Full text data of TMC8
TMC8
(EVER2, EVIN2)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Transmembrane channel-like protein 8 (Epidermodysplasia verruciformis protein 2)
Transmembrane channel-like protein 8 (Epidermodysplasia verruciformis protein 2)
Comments
Isoform Q8IU68-2 was detected.
Isoform Q8IU68-2 was detected.
UniProt
Q8IU68
ID TMC8_HUMAN Reviewed; 726 AA.
AC Q8IU68; Q2YDC0; Q8IWU7; Q8N358; Q8NF04;
DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAR-2003, sequence version 1.
DT 22-JAN-2014, entry version 80.
DE RecName: Full=Transmembrane channel-like protein 8;
DE AltName: Full=Epidermodysplasia verruciformis protein 2;
GN Name=TMC8; Synonyms=EVER2, EVIN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION,
RP AND INVOLVEMENT IN EV.
RX PubMed=12426567; DOI=10.1038/ng1044;
RA Ramoz N., Rueda L.-A., Bouadjar B., Montoya L.-S., Orth G., Favre M.;
RT "Mutations in two adjacent novel genes are associated with
RT epidermodysplasia verruciformis.";
RL Nat. Genet. 32:579-581(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=12906855; DOI=10.1016/S0888-7543(03)00154-X;
RA Kurima K., Yang Y., Sorber K., Griffith A.J.;
RT "Characterization of the transmembrane channel-like (TMC) gene family:
RT functional clues from hearing loss and epidermodysplasia
RT verruciformis.";
RL Genomics 82:300-308(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP ILE-306.
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human
RT spleen.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Blood;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Probable ion channel (By similarity).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass
CC membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Large EVER2;
CC IsoId=Q8IU68-1; Sequence=Displayed;
CC Name=2; Synonyms=Small EVER2;
CC IsoId=Q8IU68-2; Sequence=VSP_016448;
CC -!- TISSUE SPECIFICITY: Expressed in placenta, prostate and testis.
CC -!- DISEASE: Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare
CC autosomal recessive genodermatosis associated with a high risk of
CC skin carcinoma that results from an abnormal susceptibility to
CC infection by specific human papillomaviruses. Infection leads to
CC persistent wart-like or macular lesions. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMC family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03459.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC Sequence=BC028076; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
CC -!- WEB RESOURCE: Name=TMC8base; Note=TMC8 mutation db;
CC URL="http://bioinf.uta.fi/TMC8base/";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AY057380; AAL25837.1; -; mRNA.
DR EMBL; AY099358; AAM44454.1; -; mRNA.
DR EMBL; AY099359; AAM44455.1; -; mRNA.
DR EMBL; AY236500; AAP69878.1; -; mRNA.
DR EMBL; AK090478; BAC03459.1; ALT_INIT; mRNA.
DR EMBL; AC021593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028076; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC110296; AAI10297.1; -; mRNA.
DR RefSeq; NP_689681.2; NM_152468.4.
DR UniGene; Hs.592102; -.
DR ProteinModelPortal; Q8IU68; -.
DR STRING; 9606.ENSP00000325561; -.
DR PhosphoSite; Q8IU68; -.
DR DMDM; 74714272; -.
DR PaxDb; Q8IU68; -.
DR PRIDE; Q8IU68; -.
DR Ensembl; ENST00000318430; ENSP00000325561; ENSG00000167895.
DR Ensembl; ENST00000589691; ENSP00000467482; ENSG00000167895.
DR GeneID; 147138; -.
DR KEGG; hsa:147138; -.
DR UCSC; uc002jup.2; human.
DR CTD; 147138; -.
DR GeneCards; GC17P076126; -.
DR H-InvDB; HIX0173689; -.
DR HGNC; HGNC:20474; TMC8.
DR HPA; HPA054429; -.
DR MIM; 226400; phenotype.
DR MIM; 605829; gene.
DR neXtProt; NX_Q8IU68; -.
DR Orphanet; 302; Epidermodysplasia verruciformis.
DR PharmGKB; PA134892288; -.
DR eggNOG; NOG70493; -.
DR HOGENOM; HOG000038033; -.
DR HOVERGEN; HBG055908; -.
DR InParanoid; Q8IU68; -.
DR OMA; WCVVLKL; -.
DR OrthoDB; EOG73FQM9; -.
DR ChiTaRS; TMC8; human.
DR GeneWiki; TMC8; -.
DR GenomeRNAi; 147138; -.
DR NextBio; 85549; -.
DR PRO; PR:Q8IU68; -.
DR ArrayExpress; Q8IU68; -.
DR Bgee; Q8IU68; -.
DR CleanEx; HS_TMC8; -.
DR Genevestigator; Q8IU68; -.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR InterPro; IPR012496; TMC.
DR Pfam; PF07810; TMC; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Endoplasmic reticulum;
KW Glycoprotein; Ion channel; Ion transport; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 726 Transmembrane channel-like protein 8.
FT /FTId=PRO_0000185386.
FT TOPO_DOM 1 114 Cytoplasmic (Potential).
FT TRANSMEM 115 135 Helical; (Potential).
FT TOPO_DOM 136 200 Lumenal (Potential).
FT TRANSMEM 201 221 Helical; (Potential).
FT TOPO_DOM 222 299 Cytoplasmic (Potential).
FT TRANSMEM 300 320 Helical; (Potential).
FT TOPO_DOM 321 338 Lumenal (Potential).
FT TRANSMEM 339 359 Helical; (Potential).
FT TOPO_DOM 360 426 Cytoplasmic (Potential).
FT TRANSMEM 427 447 Helical; (Potential).
FT TOPO_DOM 448 488 Lumenal (Potential).
FT TRANSMEM 489 509 Helical; (Potential).
FT TOPO_DOM 510 531 Cytoplasmic (Potential).
FT TRANSMEM 532 552 Helical; (Potential).
FT TOPO_DOM 553 594 Lumenal (Potential).
FT TRANSMEM 595 615 Helical; (Potential).
FT TOPO_DOM 616 726 Cytoplasmic (Potential).
FT CARBOHYD 148 148 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 567 567 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 223 Missing (in isoform 2).
FT /FTId=VSP_016448.
FT VARIANT 306 306 N -> I (in dbSNP:rs7208422).
FT /FTId=VAR_023964.
FT VARIANT 501 501 V -> I (in dbSNP:rs11651675).
FT /FTId=VAR_052337.
FT CONFLICT 5 5 R -> W (in Ref. 3; BAC03459).
SQ SEQUENCE 726 AA; 81641 MW; AA3F4A01A6C315EF CRC64;
MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW QLREPAGVQT
LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG LFGTGIRSYF TFLRFLLLLN
LLSLLLTASF VLLPLVWLRP PDPGPTLNLT LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT
NTYLFYGAYR VGPESSSVYS IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA
PLSAKVFSSW DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL
RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL GPLLFTFLVQ
LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG RDKSSCESYG YNVCDYQCWE
NSVGEELYKL SIFNFLLTVA FAFLVTLPRR LLVDRFSGRF WAWLEREEFL VPKNVLDIVA
GQTVTWMGLF YCPLLPLLNS VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL
GLLLAAVPLG YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS
FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL PEPGPSDSPG
PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG LRSPCPGQHG APASARRFRF
PSGAEL
//
ID TMC8_HUMAN Reviewed; 726 AA.
AC Q8IU68; Q2YDC0; Q8IWU7; Q8N358; Q8NF04;
DT 06-DEC-2005, integrated into UniProtKB/Swiss-Prot.
read moreDT 01-MAR-2003, sequence version 1.
DT 22-JAN-2014, entry version 80.
DE RecName: Full=Transmembrane channel-like protein 8;
DE AltName: Full=Epidermodysplasia verruciformis protein 2;
GN Name=TMC8; Synonyms=EVER2, EVIN2;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), SUBCELLULAR LOCATION,
RP AND INVOLVEMENT IN EV.
RX PubMed=12426567; DOI=10.1038/ng1044;
RA Ramoz N., Rueda L.-A., Bouadjar B., Montoya L.-S., Orth G., Favre M.;
RT "Mutations in two adjacent novel genes are associated with
RT epidermodysplasia verruciformis.";
RL Nat. Genet. 32:579-581(2002).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX PubMed=12906855; DOI=10.1016/S0888-7543(03)00154-X;
RA Kurima K., Yang Y., Sorber K., Griffith A.J.;
RT "Characterization of the transmembrane channel-like (TMC) gene family:
RT functional clues from hearing loss and epidermodysplasia
RT verruciformis.";
RL Genomics 82:300-308(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP ILE-306.
RC TISSUE=Spleen;
RA Jikuya H., Takano J., Kikuno R., Nagase T., Ohara O.;
RT "The nucleotide sequence of a long cDNA clone isolated from human
RT spleen.";
RL Submitted (JUL-2002) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16625196; DOI=10.1038/nature04689;
RA Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R.,
RA Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A.,
RA Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J.,
RA Chang J.L., Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J.,
RA DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R.,
RA Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N.,
RA Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B.,
RA Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J.,
RA Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E.,
RA Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J.,
RA Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C.,
RA Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D.,
RA Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A.,
RA Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.;
RT "DNA sequence of human chromosome 17 and analysis of rearrangement in
RT the human lineage.";
RL Nature 440:1045-1049(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC TISSUE=Blood;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
CC -!- FUNCTION: Probable ion channel (By similarity).
CC -!- SUBCELLULAR LOCATION: Endoplasmic reticulum membrane; Multi-pass
CC membrane protein.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=Large EVER2;
CC IsoId=Q8IU68-1; Sequence=Displayed;
CC Name=2; Synonyms=Small EVER2;
CC IsoId=Q8IU68-2; Sequence=VSP_016448;
CC -!- TISSUE SPECIFICITY: Expressed in placenta, prostate and testis.
CC -!- DISEASE: Epidermodysplasia verruciformis (EV) [MIM:226400]: Rare
CC autosomal recessive genodermatosis associated with a high risk of
CC skin carcinoma that results from an abnormal susceptibility to
CC infection by specific human papillomaviruses. Infection leads to
CC persistent wart-like or macular lesions. Note=The disease is
CC caused by mutations affecting the gene represented in this entry.
CC -!- SIMILARITY: Belongs to the TMC family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC03459.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;
CC Sequence=BC028076; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Aberrant splice sites;
CC -!- WEB RESOURCE: Name=TMC8base; Note=TMC8 mutation db;
CC URL="http://bioinf.uta.fi/TMC8base/";
CC -----------------------------------------------------------------------
CC Copyrighted by the UniProt Consortium, see http://www.uniprot.org/terms
CC Distributed under the Creative Commons Attribution-NoDerivs License
CC -----------------------------------------------------------------------
DR EMBL; AY057380; AAL25837.1; -; mRNA.
DR EMBL; AY099358; AAM44454.1; -; mRNA.
DR EMBL; AY099359; AAM44455.1; -; mRNA.
DR EMBL; AY236500; AAP69878.1; -; mRNA.
DR EMBL; AK090478; BAC03459.1; ALT_INIT; mRNA.
DR EMBL; AC021593; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC028076; -; NOT_ANNOTATED_CDS; mRNA.
DR EMBL; BC110296; AAI10297.1; -; mRNA.
DR RefSeq; NP_689681.2; NM_152468.4.
DR UniGene; Hs.592102; -.
DR ProteinModelPortal; Q8IU68; -.
DR STRING; 9606.ENSP00000325561; -.
DR PhosphoSite; Q8IU68; -.
DR DMDM; 74714272; -.
DR PaxDb; Q8IU68; -.
DR PRIDE; Q8IU68; -.
DR Ensembl; ENST00000318430; ENSP00000325561; ENSG00000167895.
DR Ensembl; ENST00000589691; ENSP00000467482; ENSG00000167895.
DR GeneID; 147138; -.
DR KEGG; hsa:147138; -.
DR UCSC; uc002jup.2; human.
DR CTD; 147138; -.
DR GeneCards; GC17P076126; -.
DR H-InvDB; HIX0173689; -.
DR HGNC; HGNC:20474; TMC8.
DR HPA; HPA054429; -.
DR MIM; 226400; phenotype.
DR MIM; 605829; gene.
DR neXtProt; NX_Q8IU68; -.
DR Orphanet; 302; Epidermodysplasia verruciformis.
DR PharmGKB; PA134892288; -.
DR eggNOG; NOG70493; -.
DR HOGENOM; HOG000038033; -.
DR HOVERGEN; HBG055908; -.
DR InParanoid; Q8IU68; -.
DR OMA; WCVVLKL; -.
DR OrthoDB; EOG73FQM9; -.
DR ChiTaRS; TMC8; human.
DR GeneWiki; TMC8; -.
DR GenomeRNAi; 147138; -.
DR NextBio; 85549; -.
DR PRO; PR:Q8IU68; -.
DR ArrayExpress; Q8IU68; -.
DR Bgee; Q8IU68; -.
DR CleanEx; HS_TMC8; -.
DR Genevestigator; Q8IU68; -.
DR GO; GO:0005789; C:endoplasmic reticulum membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0016021; C:integral to membrane; IEA:UniProtKB-KW.
DR GO; GO:0006811; P:ion transport; IEA:UniProtKB-KW.
DR InterPro; IPR012496; TMC.
DR Pfam; PF07810; TMC; 1.
PE 2: Evidence at transcript level;
KW Alternative splicing; Complete proteome; Endoplasmic reticulum;
KW Glycoprotein; Ion channel; Ion transport; Membrane; Polymorphism;
KW Reference proteome; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 726 Transmembrane channel-like protein 8.
FT /FTId=PRO_0000185386.
FT TOPO_DOM 1 114 Cytoplasmic (Potential).
FT TRANSMEM 115 135 Helical; (Potential).
FT TOPO_DOM 136 200 Lumenal (Potential).
FT TRANSMEM 201 221 Helical; (Potential).
FT TOPO_DOM 222 299 Cytoplasmic (Potential).
FT TRANSMEM 300 320 Helical; (Potential).
FT TOPO_DOM 321 338 Lumenal (Potential).
FT TRANSMEM 339 359 Helical; (Potential).
FT TOPO_DOM 360 426 Cytoplasmic (Potential).
FT TRANSMEM 427 447 Helical; (Potential).
FT TOPO_DOM 448 488 Lumenal (Potential).
FT TRANSMEM 489 509 Helical; (Potential).
FT TOPO_DOM 510 531 Cytoplasmic (Potential).
FT TRANSMEM 532 552 Helical; (Potential).
FT TOPO_DOM 553 594 Lumenal (Potential).
FT TRANSMEM 595 615 Helical; (Potential).
FT TOPO_DOM 616 726 Cytoplasmic (Potential).
FT CARBOHYD 148 148 N-linked (GlcNAc...) (Potential).
FT CARBOHYD 567 567 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 223 Missing (in isoform 2).
FT /FTId=VSP_016448.
FT VARIANT 306 306 N -> I (in dbSNP:rs7208422).
FT /FTId=VAR_023964.
FT VARIANT 501 501 V -> I (in dbSNP:rs11651675).
FT /FTId=VAR_052337.
FT CONFLICT 5 5 R -> W (in Ref. 3; BAC03459).
SQ SEQUENCE 726 AA; 81641 MW; AA3F4A01A6C315EF CRC64;
MLLPRSVSSE RAPGVPEPEE LWEAEMERLR GSGTPVRGLP YAMMDKRLIW QLREPAGVQT
LRWQRWQRRR QTVERRLREA AQRLARGLGL WEGALYEIGG LFGTGIRSYF TFLRFLLLLN
LLSLLLTASF VLLPLVWLRP PDPGPTLNLT LQCPGSRQSP PGVLRFHNQL WHVLTGRAFT
NTYLFYGAYR VGPESSSVYS IRLAYLLSPL ACLLLCFCGT LRRMVKGLPQ KTLLGQGYQA
PLSAKVFSSW DFCIRVQEAA TIKKHEISNE FKVELEEGRR FQLMQQQTRA QTACRLLSYL
RVNVLNGLLV VGAISAIFWA TKYSQDNKEE SLFLLLQYLP PGVIALVNFL GPLLFTFLVQ
LENYPPNTEV NLTLIWCVVL KLASLGMFSV SLGQTILCIG RDKSSCESYG YNVCDYQCWE
NSVGEELYKL SIFNFLLTVA FAFLVTLPRR LLVDRFSGRF WAWLEREEFL VPKNVLDIVA
GQTVTWMGLF YCPLLPLLNS VFLFLTFYIK KYTLLKNSRA SSRPFRASSS TFFFQLVLLL
GLLLAAVPLG YVVSSIHSSW DCGLFTNYSA PWQVVPELVA LGLPPIGQRA LHYLGSHAFS
FPLLIMLSLV LTVCVSQTQA NARAIHRLRK QLVWQVQEKW HLVEDLSRLL PEPGPSDSPG
PKYPASQASR PQSFCPGCPC PGSPGHQAPR PGPSVVDAAG LRSPCPGQHG APASARRFRF
PSGAEL
//
MIM
226400
*RECORD*
*FIELD* NO
226400
*FIELD* TI
#226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
;;EVER
*FIELD* TX
A number sign (#) is used with this entry because epidermodysplasia
read moreverruciformis can be caused by mutations in either of 2 adjacent genes
located on 17q25: TMC6 (605828) or TMC8 (605829).
DESCRIPTION
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated
with a high risk of skin cancer (Ramoz et al., 2000). EV results from an
abnormal susceptibility to specific related human papillomavirus (HPV)
genotypes and to the oncogenic potential of some of them, mainly HPV5.
Infection with EV-associated HPV leads to the early development of
disseminated flat wart-like and pityriasis versicolor-like lesions.
Patients are unable to reject their lesions, and cutaneous Bowen
carcinomas in situ and invasive squamous cell carcinomas develop in
about half of them, mainly on sun-exposed areas.
CLINICAL FEATURES
The lesions often resemble verrucae planae (Sullivan and Ellis, 1939).
The mucous membranes, hair, and nails are not affected. Malignant
degeneration, usually of the superficial basal cell type, is frequent.
Characteristic changes in the epidermal cells with peculiar
vacuolization are observed. Ellis (1953) stated that this disorder
occurs most frequently in Orientals.
INHERITANCE
Sullivan and Ellis (1939) found that of the 16 previously reported
families, 4 had consanguineous parents. Familial aggregation was
described by Midana (1949) and by Jablonska et al. (1966). Hermann
(1955) found parental consanguinity. Lutzner (1977) considered this an
autosomal recessive disorder. The family reported by Jablonska et al.
(1979) suggested autosomal dominant inheritance. The fact that spouses
and some family members stayed free of the disease speaks against
intrafamilial infection as the cause. Feuerman et al. (1979) reported
the cases of 2 Arab brothers. The parents and 7 sibs were unaffected.
PATHOGENESIS
The view that epidermodysplasia verruciformis is an extensive form of
viral verrucae planae is supported by successful autoinoculation and
heteroinoculation experiments. Lutz (1957) was one of the first to
describe the condition; he accepted that it is not an entity but
suggested that genetic predisposition may account for the extensiveness
of the eruption of warts. By electron microscopy, Baker (1968) and
others demonstrated particles suggesting papovavirus. The common wart
virus can be demonstrated in the warts by both electron and fluorescent
microscopy (Yabe and Sadakane, 1975). Warts appear to progress to
squamous cell carcinoma in about 10% of cases (Lutzner, 1977). As in
Shope papilloma, virus is no longer demonstrable in the cancers.
Jablonska et al. (1979) observed papillomaviruses (HPVs), either HPV3 or
HPV4 and sometimes both, in cases and found that the clinical picture
differed depending on which virus was involved. Malignancies developed
only in family members infected with HPV4. Orth et al. (1979) pointed to
papillomavirus type 5 as the determinant of malignant evolution of the
warts. Individuals with epidermodysplasia verruciformis are not prone to
bacterial, fungal, or viral infections, and are not abnormally
susceptible to genital papillomaviral infections.
MOLECULAR GENETICS
Ramoz et al. (2002) studied 2 Algerian and 2 Colombian consanguineous
families who had been previously described (Ramoz et al., 1999; Ramoz et
al., 2000) and an additional EV1-linked Algerian family in which an
individual was affected with HPV5. The EV1 locus (605828) had been
mapped to a 1-cM interval on 17q25 (Ramoz et al., 2000); Ramoz et al.
(2002) cloned both the EVER1 and EVER2 genes from this region. In
individuals with epidermodysplasia verruciformis, Ramoz et al. (2002)
identified 2 homozygous nonsense mutations in the EVER1 gene
(605828.0001-605828.0002) and 2 homozygous mutations in the EVER2 gene
(605829.0001-605829.0002).
*FIELD* SA
Jablonska and Formas (1959)
*FIELD* RF
1. Baker, H.: Epidermodysplasia verruciformis with electron microscopic
demonstration of virus. Proc. Roy. Soc. Med. 61: 589-590, 1968.
2. Ellis, F.: In discussion of Barker and Sachs. Arch. Derm. 67:
443-455, 1953.
3. Feuerman, E. J.; Sandbank, M.; David, M.: Two siblings with epidermodysplasia
verruciformis with large clear cells in the epidermis: electron microscope
and immunological findings. Acta Derm. Venerol. 59: 513-520, 1979.
4. Hermann, H.: Epidermodysplasia verruciformis: Erb-und Erscheinungsbild. Z.
Menschl. Vererb. Konstitutionsl. 32: 409-417, 1955.
5. Jablonska, S.; Fabjanska, L.; Formas, I.: On the viral etiology
of epidermodysplasia verruciformis. Dermatologica 132: 369-385,
1966.
6. Jablonska, S.; Formas, I.: Weitere positive Ergebnisse mit Auto-und
Heteroinokulation bei Epidermodysplasia verruciformis Lewandowsky-Lutz. Dermatologica 118:
86-93, 1959.
7. Jablonska, S.; Orth, G.; Jarzabek-Chorzelska, M.; Glinski, W.;
Obalek, S.; Rzesa, G.; Croissant, O.; Favre, M.: Twenty-one years
of follow-up studies of familial epidermodysplasia verruciformis. Dermatologica 158:
309-327, 1979.
8. Lutz, W.: Zur Epidermodysplasia verruciformis. Dermatologica 115:
309-314, 1957.
9. Lutzner, M. A.: Nosology among the neoplastic genodermatoses.In:
Mulvihill, J. J.; Miller, R. W.; Fraumeni, J. F., Jr.: Genetics of
Human Cancer. New York: Raven Press (pub.) 1977. Pp. 145-167.
10. Midana, A.: Sulla questione dei rapporti tra epidermodysplasia
verruciformis e verrucosi generalizzata. Dermatologica 99: 1-23,
1949.
11. Orth, G.; Jablonska, S.; Jarzabek-Chorzelska, M.; Obalek, S.;
Rzesa, G.; Favre, M.; Croissant, O.: Characteristics of the lesions
and risk of malignant conversion associated with the type of human
papillomavirus involved in epidermodysplasia verruciformis. Cancer
Res. 39: 1074-1082, 1979.
12. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Favre, M.; Orth, G.: A
susceptibility locus for epidermodysplasia verruciformis, an abnormal
predisposition to infection with the oncogenic human papillomavirus
type 5, maps to chromosome 17qter in a region containing a psoriasis
locus. J. Invest. Derm. 112: 259-263, 1999.
13. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Montoya, L.-S.; Orth, G.;
Favre, M.: Mutations in two adjacent novel genes are associated with
epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002.
14. Ramoz, N.; Taieb, A.; Rueda, L.-A.; Montoya, L.-S.; Bouadjar,
B.; Favre, M.; Orth, G.: Evidence for a nonallelic heterogeneity
of epidermodysplasia verruciformis with two susceptibility loci mapped
to chromosome regions 2p21-p24 and 17q25. J. Invest. Derm. 114:
1148-1153, 2000.
15. Sullivan, M.; Ellis, F. A.: Epidermodysplasia verruciformis (Lewandowsky
and Lutz). Arch. Derm. Syph. 40: 422-432, 1939.
16. Yabe, Y.; Sadakane, H.: Virus of epidermodysplasia verruciformis:
electron microscopic and fluorescent antibody studies. J. Invest.
Derm. 65: 324-330, 1975.
*FIELD* CS
Skin:
Epidermodysplasia verruciformis;
Verrucae planae;
Basal cell carcinoma
Lab:
Epidermal cell vacuolization
Inheritance:
? Autosomal recessive predisposition to viral etiology
*FIELD* CN
Victor A. McKusick - updated: 11/26/2002
*FIELD* CD
Victor A. McKusick: 6/3/1986
*FIELD* ED
mgross: 04/14/2010
ckniffin: 1/13/2010
alopez: 11/27/2002
terry: 11/26/2002
alopez: 4/6/2001
mimadm: 4/14/1994
warfield: 3/14/1994
supermim: 3/16/1992
supermim: 3/20/1990
supermim: 3/6/1990
ddp: 10/26/1989
*RECORD*
*FIELD* NO
226400
*FIELD* TI
#226400 EPIDERMODYSPLASIA VERRUCIFORMIS; EV
;;EVER
*FIELD* TX
A number sign (#) is used with this entry because epidermodysplasia
read moreverruciformis can be caused by mutations in either of 2 adjacent genes
located on 17q25: TMC6 (605828) or TMC8 (605829).
DESCRIPTION
Epidermodysplasia verruciformis (EV) is a rare genodermatosis associated
with a high risk of skin cancer (Ramoz et al., 2000). EV results from an
abnormal susceptibility to specific related human papillomavirus (HPV)
genotypes and to the oncogenic potential of some of them, mainly HPV5.
Infection with EV-associated HPV leads to the early development of
disseminated flat wart-like and pityriasis versicolor-like lesions.
Patients are unable to reject their lesions, and cutaneous Bowen
carcinomas in situ and invasive squamous cell carcinomas develop in
about half of them, mainly on sun-exposed areas.
CLINICAL FEATURES
The lesions often resemble verrucae planae (Sullivan and Ellis, 1939).
The mucous membranes, hair, and nails are not affected. Malignant
degeneration, usually of the superficial basal cell type, is frequent.
Characteristic changes in the epidermal cells with peculiar
vacuolization are observed. Ellis (1953) stated that this disorder
occurs most frequently in Orientals.
INHERITANCE
Sullivan and Ellis (1939) found that of the 16 previously reported
families, 4 had consanguineous parents. Familial aggregation was
described by Midana (1949) and by Jablonska et al. (1966). Hermann
(1955) found parental consanguinity. Lutzner (1977) considered this an
autosomal recessive disorder. The family reported by Jablonska et al.
(1979) suggested autosomal dominant inheritance. The fact that spouses
and some family members stayed free of the disease speaks against
intrafamilial infection as the cause. Feuerman et al. (1979) reported
the cases of 2 Arab brothers. The parents and 7 sibs were unaffected.
PATHOGENESIS
The view that epidermodysplasia verruciformis is an extensive form of
viral verrucae planae is supported by successful autoinoculation and
heteroinoculation experiments. Lutz (1957) was one of the first to
describe the condition; he accepted that it is not an entity but
suggested that genetic predisposition may account for the extensiveness
of the eruption of warts. By electron microscopy, Baker (1968) and
others demonstrated particles suggesting papovavirus. The common wart
virus can be demonstrated in the warts by both electron and fluorescent
microscopy (Yabe and Sadakane, 1975). Warts appear to progress to
squamous cell carcinoma in about 10% of cases (Lutzner, 1977). As in
Shope papilloma, virus is no longer demonstrable in the cancers.
Jablonska et al. (1979) observed papillomaviruses (HPVs), either HPV3 or
HPV4 and sometimes both, in cases and found that the clinical picture
differed depending on which virus was involved. Malignancies developed
only in family members infected with HPV4. Orth et al. (1979) pointed to
papillomavirus type 5 as the determinant of malignant evolution of the
warts. Individuals with epidermodysplasia verruciformis are not prone to
bacterial, fungal, or viral infections, and are not abnormally
susceptible to genital papillomaviral infections.
MOLECULAR GENETICS
Ramoz et al. (2002) studied 2 Algerian and 2 Colombian consanguineous
families who had been previously described (Ramoz et al., 1999; Ramoz et
al., 2000) and an additional EV1-linked Algerian family in which an
individual was affected with HPV5. The EV1 locus (605828) had been
mapped to a 1-cM interval on 17q25 (Ramoz et al., 2000); Ramoz et al.
(2002) cloned both the EVER1 and EVER2 genes from this region. In
individuals with epidermodysplasia verruciformis, Ramoz et al. (2002)
identified 2 homozygous nonsense mutations in the EVER1 gene
(605828.0001-605828.0002) and 2 homozygous mutations in the EVER2 gene
(605829.0001-605829.0002).
*FIELD* SA
Jablonska and Formas (1959)
*FIELD* RF
1. Baker, H.: Epidermodysplasia verruciformis with electron microscopic
demonstration of virus. Proc. Roy. Soc. Med. 61: 589-590, 1968.
2. Ellis, F.: In discussion of Barker and Sachs. Arch. Derm. 67:
443-455, 1953.
3. Feuerman, E. J.; Sandbank, M.; David, M.: Two siblings with epidermodysplasia
verruciformis with large clear cells in the epidermis: electron microscope
and immunological findings. Acta Derm. Venerol. 59: 513-520, 1979.
4. Hermann, H.: Epidermodysplasia verruciformis: Erb-und Erscheinungsbild. Z.
Menschl. Vererb. Konstitutionsl. 32: 409-417, 1955.
5. Jablonska, S.; Fabjanska, L.; Formas, I.: On the viral etiology
of epidermodysplasia verruciformis. Dermatologica 132: 369-385,
1966.
6. Jablonska, S.; Formas, I.: Weitere positive Ergebnisse mit Auto-und
Heteroinokulation bei Epidermodysplasia verruciformis Lewandowsky-Lutz. Dermatologica 118:
86-93, 1959.
7. Jablonska, S.; Orth, G.; Jarzabek-Chorzelska, M.; Glinski, W.;
Obalek, S.; Rzesa, G.; Croissant, O.; Favre, M.: Twenty-one years
of follow-up studies of familial epidermodysplasia verruciformis. Dermatologica 158:
309-327, 1979.
8. Lutz, W.: Zur Epidermodysplasia verruciformis. Dermatologica 115:
309-314, 1957.
9. Lutzner, M. A.: Nosology among the neoplastic genodermatoses.In:
Mulvihill, J. J.; Miller, R. W.; Fraumeni, J. F., Jr.: Genetics of
Human Cancer. New York: Raven Press (pub.) 1977. Pp. 145-167.
10. Midana, A.: Sulla questione dei rapporti tra epidermodysplasia
verruciformis e verrucosi generalizzata. Dermatologica 99: 1-23,
1949.
11. Orth, G.; Jablonska, S.; Jarzabek-Chorzelska, M.; Obalek, S.;
Rzesa, G.; Favre, M.; Croissant, O.: Characteristics of the lesions
and risk of malignant conversion associated with the type of human
papillomavirus involved in epidermodysplasia verruciformis. Cancer
Res. 39: 1074-1082, 1979.
12. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Favre, M.; Orth, G.: A
susceptibility locus for epidermodysplasia verruciformis, an abnormal
predisposition to infection with the oncogenic human papillomavirus
type 5, maps to chromosome 17qter in a region containing a psoriasis
locus. J. Invest. Derm. 112: 259-263, 1999.
13. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Montoya, L.-S.; Orth, G.;
Favre, M.: Mutations in two adjacent novel genes are associated with
epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002.
14. Ramoz, N.; Taieb, A.; Rueda, L.-A.; Montoya, L.-S.; Bouadjar,
B.; Favre, M.; Orth, G.: Evidence for a nonallelic heterogeneity
of epidermodysplasia verruciformis with two susceptibility loci mapped
to chromosome regions 2p21-p24 and 17q25. J. Invest. Derm. 114:
1148-1153, 2000.
15. Sullivan, M.; Ellis, F. A.: Epidermodysplasia verruciformis (Lewandowsky
and Lutz). Arch. Derm. Syph. 40: 422-432, 1939.
16. Yabe, Y.; Sadakane, H.: Virus of epidermodysplasia verruciformis:
electron microscopic and fluorescent antibody studies. J. Invest.
Derm. 65: 324-330, 1975.
*FIELD* CS
Skin:
Epidermodysplasia verruciformis;
Verrucae planae;
Basal cell carcinoma
Lab:
Epidermal cell vacuolization
Inheritance:
? Autosomal recessive predisposition to viral etiology
*FIELD* CN
Victor A. McKusick - updated: 11/26/2002
*FIELD* CD
Victor A. McKusick: 6/3/1986
*FIELD* ED
mgross: 04/14/2010
ckniffin: 1/13/2010
alopez: 11/27/2002
terry: 11/26/2002
alopez: 4/6/2001
mimadm: 4/14/1994
warfield: 3/14/1994
supermim: 3/16/1992
supermim: 3/20/1990
supermim: 3/6/1990
ddp: 10/26/1989
MIM
605829
*RECORD*
*FIELD* NO
605829
*FIELD* TI
*605829 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 8; TMC8
;;EPIDERMODYSPLASIA VERRUCIFORMIS GENE 2; EVER2; EV2
read more*FIELD* TX
For phenotypic information on epidermodysplasia verruciformis (EV), see
226400.
CLONING
Ramoz et al. (2002) positionally cloned the EVER2 gene from the EV1
locus on 17q25 (Ramoz et al., 1999). Computational analysis of the EV1
interval on the Human Genome Draft Sequence allowed construction of a
contig of partially sequenced overlapping BACs. The region contained the
genes encoding thymidine kinase-1 (TK1; 188300) and synaptogyrin-2
(SYNGR2; 603926) as well as the EV1 and EV2 genes, which were assigned
the symbols EVER1 (605828) and EVER2, respectively. The EVER2 gene
encodes 2 alternatively spliced proteins of 726 and 503 amino acids.
EVER2 was predicted to contain 8 transmembrane domains and 3 leucine
zipper motifs. EVER2 and EVER1 share approximately 28% amino acid
identity, are expressed in the cytoplasm, and colocalize with calnexin
(114217), an integral membrane protein located in the endoplasmic
reticulum.
GENE STRUCTURE
Ramoz et al. (2002) determined that the EVER2 gene contains 16 exons.
The EVER1 and EVER2 genes are in opposite orientation from the first
in-frame ATG start codon and are separated by 4,732 bp.
MAPPING
Ramoz et al. (2002) narrowed the EV1 interval to about 180 kb on 17q25,
and cloned both the EVER1 and EVER2 genes from this region. Ramoz et al.
(2000) had found evidence for linkage between EV and the 2p24-p21
region. The validity of the chromosome 2 mapping is in doubt with the
demonstration by Ramoz et al. (2002) that 2 contiguous genes on 17q25
are the sites of mutations causing epidermodysplasia verruciformis.
MOLECULAR GENETICS
Ramoz et al. (2002) demonstrated that epidermodysplasia verruciformis
(226400) can result from mutations in either of 2 adjacent genes on
17q25, EVER1 or EVER2. The products of the EVER1 and EVER2 genes have
features of integral membrane proteins and are localized in the
endoplasmic reticulum. In taking into account that mutations in either
EVER1 or EVER2 are associated with epidermodysplasia verruciformis, it
is likely that the transmembrane EVER proteins are tightly coupled to
the same pathway in the endoplasmic reticulum.
*FIELD* AV
.0001
EPIDERMODYSPLASIA VERRUCIFORMIS
TMC8, 1-BP DEL, 754T
In the affected member of an Algerian family with epidermodysplasia
verruciformis (226400) who was infected with HPV5, Ramoz et al. (2002)
identified a homozygous deletion of 754 or 755T in the TMC8 gene, which
led to a frameshift mutation and termination of the protein at codon
283.
.0002
EPIDERMODYSPLASIA VERRUCIFORMIS
TMC8, GLU362TER
Ramoz et al. (2002) found that 3 individuals in a consanguineous
Colombian family with epidermodysplasia verruciformis (226400) harbored
a homozygous 1084G-T transversion in the TMC8 gene that caused the
nonsense mutation glu362-to-ter (E362X) in the resultant protein.
*FIELD* RF
1. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Favre, M.; Orth, G.: A
susceptibility locus for epidermodysplasia verruciformis, an abnormal
predisposition to infection with the oncogenic human papillomavirus
type 5, maps to chromosome 17qter in a region containing a psoriasis
locus. J. Invest. Derm. 112: 259-263, 1999.
2. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Montoya, L.-S.; Orth, G.;
Favre, M.: Mutations in two adjacent novel genes are associated with
epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002.
3. Ramoz, N.; Taieb, A.; Rueda, L.-A.; Montoya, L.-S.; Bouadjar, B.;
Favre, M.; Orth, G.: Evidence for a nonallelic heterogeneity of epidermodysplasia
verruciformis with two susceptibility loci mapped to chromosome regions
2p21-p24 and 17q25. J. Invest. Derm. 114: 1148-1153, 2000.
*FIELD* CD
Gary A. Bellus: 4/6/2001
*FIELD* ED
mgross: 04/14/2010
ckniffin: 1/13/2010
alopez: 11/27/2002
terry: 11/26/2002
alopez: 4/9/2001
alopez: 4/6/2001
*RECORD*
*FIELD* NO
605829
*FIELD* TI
*605829 TRANSMEMBRANE CHANNEL-LIKE PROTEIN 8; TMC8
;;EPIDERMODYSPLASIA VERRUCIFORMIS GENE 2; EVER2; EV2
read more*FIELD* TX
For phenotypic information on epidermodysplasia verruciformis (EV), see
226400.
CLONING
Ramoz et al. (2002) positionally cloned the EVER2 gene from the EV1
locus on 17q25 (Ramoz et al., 1999). Computational analysis of the EV1
interval on the Human Genome Draft Sequence allowed construction of a
contig of partially sequenced overlapping BACs. The region contained the
genes encoding thymidine kinase-1 (TK1; 188300) and synaptogyrin-2
(SYNGR2; 603926) as well as the EV1 and EV2 genes, which were assigned
the symbols EVER1 (605828) and EVER2, respectively. The EVER2 gene
encodes 2 alternatively spliced proteins of 726 and 503 amino acids.
EVER2 was predicted to contain 8 transmembrane domains and 3 leucine
zipper motifs. EVER2 and EVER1 share approximately 28% amino acid
identity, are expressed in the cytoplasm, and colocalize with calnexin
(114217), an integral membrane protein located in the endoplasmic
reticulum.
GENE STRUCTURE
Ramoz et al. (2002) determined that the EVER2 gene contains 16 exons.
The EVER1 and EVER2 genes are in opposite orientation from the first
in-frame ATG start codon and are separated by 4,732 bp.
MAPPING
Ramoz et al. (2002) narrowed the EV1 interval to about 180 kb on 17q25,
and cloned both the EVER1 and EVER2 genes from this region. Ramoz et al.
(2000) had found evidence for linkage between EV and the 2p24-p21
region. The validity of the chromosome 2 mapping is in doubt with the
demonstration by Ramoz et al. (2002) that 2 contiguous genes on 17q25
are the sites of mutations causing epidermodysplasia verruciformis.
MOLECULAR GENETICS
Ramoz et al. (2002) demonstrated that epidermodysplasia verruciformis
(226400) can result from mutations in either of 2 adjacent genes on
17q25, EVER1 or EVER2. The products of the EVER1 and EVER2 genes have
features of integral membrane proteins and are localized in the
endoplasmic reticulum. In taking into account that mutations in either
EVER1 or EVER2 are associated with epidermodysplasia verruciformis, it
is likely that the transmembrane EVER proteins are tightly coupled to
the same pathway in the endoplasmic reticulum.
*FIELD* AV
.0001
EPIDERMODYSPLASIA VERRUCIFORMIS
TMC8, 1-BP DEL, 754T
In the affected member of an Algerian family with epidermodysplasia
verruciformis (226400) who was infected with HPV5, Ramoz et al. (2002)
identified a homozygous deletion of 754 or 755T in the TMC8 gene, which
led to a frameshift mutation and termination of the protein at codon
283.
.0002
EPIDERMODYSPLASIA VERRUCIFORMIS
TMC8, GLU362TER
Ramoz et al. (2002) found that 3 individuals in a consanguineous
Colombian family with epidermodysplasia verruciformis (226400) harbored
a homozygous 1084G-T transversion in the TMC8 gene that caused the
nonsense mutation glu362-to-ter (E362X) in the resultant protein.
*FIELD* RF
1. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Favre, M.; Orth, G.: A
susceptibility locus for epidermodysplasia verruciformis, an abnormal
predisposition to infection with the oncogenic human papillomavirus
type 5, maps to chromosome 17qter in a region containing a psoriasis
locus. J. Invest. Derm. 112: 259-263, 1999.
2. Ramoz, N.; Rueda, L.-A.; Bouadjar, B.; Montoya, L.-S.; Orth, G.;
Favre, M.: Mutations in two adjacent novel genes are associated with
epidermodysplasia verruciformis. Nature Genet. 32: 579-581, 2002.
3. Ramoz, N.; Taieb, A.; Rueda, L.-A.; Montoya, L.-S.; Bouadjar, B.;
Favre, M.; Orth, G.: Evidence for a nonallelic heterogeneity of epidermodysplasia
verruciformis with two susceptibility loci mapped to chromosome regions
2p21-p24 and 17q25. J. Invest. Derm. 114: 1148-1153, 2000.
*FIELD* CD
Gary A. Bellus: 4/6/2001
*FIELD* ED
mgross: 04/14/2010
ckniffin: 1/13/2010
alopez: 11/27/2002
terry: 11/26/2002
alopez: 4/9/2001
alopez: 4/6/2001