Full text data of DIP2B
DIP2B
(KIAA1463)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Disco-interacting protein 2 homolog B; DIP2 homolog B
Note: presumably soluble (membrane word is not in UniProt keywords or features)
Disco-interacting protein 2 homolog B; DIP2 homolog B
Note: presumably soluble (membrane word is not in UniProt keywords or features)
UniProt
Q9P265
ID DIP2B_HUMAN Reviewed; 1576 AA.
AC Q9P265; Q6B011; Q8N1L5; Q8NB38;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 26-FEB-2008, sequence version 3.
DT 22-JAN-2014, entry version 77.
DE RecName: Full=Disco-interacting protein 2 homolog B;
DE Short=DIP2 homolog B;
GN Name=DIP2B; Synonyms=KIAA1463;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA Kucherlapati R., Weinstock G., Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-372 AND 764-1576.
RC TISSUE=Brain, and Synovium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-372.
RC TISSUE=Brain;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 411-1576, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII.
RT The complete sequences of 100 new cDNA clones from brain which code
RT for large proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=17236128; DOI=10.1086/510800;
RA Winnepenninckx B., Debacker K., Ramsay J., Smeets D., Smits A.,
RA FitzPatrick D.R., Kooy R.F.;
RT "CGG-repeat expansion in the DIP2B gene is associated with the fragile
RT site FRA12A on chromosome 12q13.1.";
RL Am. J. Hum. Genet. 80:221-231(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50; SER-53; THR-71;
RP SER-100; THR-140; SER-146 AND SER-148, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-203, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-53 AND SER-100, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- TISSUE SPECIFICITY: Moderately expressed in adult brain, placenta,
CC skeletal muscle, heart, kidney, pancreas, lung, spleen and colon.
CC Expression was weaker in adult liver, kidney, spleen, and ovary,
CC and in fetal brain and liver. In the brain, it is expressed in the
CC cerebral cortex; the frontal, parietal, occipital and temporal
CC lobes; the paracentral gyrus; the pons; the corpus callosum and
CC the hippocampus. Highest expression levels in the brain were found
CC in the cerebral cortex and the frontal and parietal lobes.
CC -!- SIMILARITY: Belongs to the DIP2 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH75027.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
CC Sequence=BAC03705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
CC Sequence=BAC05025.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=EAW58149.1; Type=Erroneous gene model prediction;
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DR EMBL; AC078818; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090058; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471111; EAW58149.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AK091597; BAC03705.1; ALT_SEQ; mRNA.
DR EMBL; AK097369; BAC05025.1; ALT_INIT; mRNA.
DR EMBL; BC075027; AAH75027.1; ALT_SEQ; mRNA.
DR EMBL; AB040896; BAA95987.2; -; mRNA.
DR RefSeq; NP_775873.2; NM_173602.2.
DR UniGene; Hs.505516; -.
DR ProteinModelPortal; Q9P265; -.
DR SMR; Q9P265; 1025-1562.
DR IntAct; Q9P265; 2.
DR STRING; 9606.ENSP00000301180; -.
DR PhosphoSite; Q9P265; -.
DR DMDM; 172044681; -.
DR PaxDb; Q9P265; -.
DR PRIDE; Q9P265; -.
DR Ensembl; ENST00000301180; ENSP00000301180; ENSG00000066084.
DR GeneID; 57609; -.
DR KEGG; hsa:57609; -.
DR UCSC; uc001rwv.3; human.
DR CTD; 57609; -.
DR GeneCards; GC12P050898; -.
DR H-InvDB; HIX0010630; -.
DR HGNC; HGNC:29284; DIP2B.
DR HPA; HPA046133; -.
DR MIM; 611379; gene.
DR neXtProt; NX_Q9P265; -.
DR PharmGKB; PA143485449; -.
DR eggNOG; COG0318; -.
DR HOGENOM; HOG000045270; -.
DR HOVERGEN; HBG026594; -.
DR InParanoid; Q9P265; -.
DR OMA; CILTSQT; -.
DR OrthoDB; EOG7D59MW; -.
DR GenomeRNAi; 57609; -.
DR NextBio; 64255; -.
DR PRO; PR:Q9P265; -.
DR ArrayExpress; Q9P265; -.
DR Bgee; Q9P265; -.
DR CleanEx; HS_DIP2B; -.
DR Genevestigator; Q9P265; -.
DR GO; GO:0005634; C:nucleus; IEA:InterPro.
DR GO; GO:0003824; F:catalytic activity; IEA:InterPro.
DR InterPro; IPR000873; AMP-dep_Synth/Lig.
DR InterPro; IPR010506; DMAP1-bd.
DR Pfam; PF00501; AMP-binding; 2.
DR Pfam; PF06464; DMAP_binding; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 1576 Disco-interacting protein 2 homolog B.
FT /FTId=PRO_0000318736.
FT COMPBIAS 145 234 Ser-rich.
FT COMPBIAS 1118 1121 Poly-Ala.
FT COMPBIAS 1503 1506 Poly-Val.
FT COMPBIAS 1534 1540 Poly-Val.
FT MOD_RES 50 50 Phosphoserine.
FT MOD_RES 53 53 Phosphoserine.
FT MOD_RES 71 71 Phosphothreonine.
FT MOD_RES 100 100 Phosphoserine.
FT MOD_RES 140 140 Phosphothreonine.
FT MOD_RES 146 146 Phosphoserine.
FT MOD_RES 148 148 Phosphoserine.
FT MOD_RES 203 203 Phosphoserine.
FT VARIANT 792 792 I -> V (in dbSNP:rs11169525).
FT /FTId=VAR_038861.
FT CONFLICT 216 216 F -> L (in Ref. 3; BAC03705).
FT CONFLICT 245 245 S -> P (in Ref. 3; BAC03705).
FT CONFLICT 1432 1432 W -> R (in Ref. 3; BAC05025).
SQ SEQUENCE 1576 AA; 171492 MW; 351AC2C3E4B72E31 CRC64;
MAERGLEPSP AAVAALPPEV RAQLAELELE LSEGDITQKG YEKKRSKLLS PYSPQTQETD
SAVQKELRNQ TPAPSAAQTS APSKYHRTRS GGARDERYRS DIHTEAVQAA LAKHKEQKMA
LPMPTKRRST FVQSPADACT PPDTSSASED EGSLRRQAAL SAALQQSLQN AESWINRSIQ
GSSTSSSASS TLSHGEVKGT SGSLADVFAN TRIENFSAPP DVTTTTSSSS SSSSIRPANI
DLPPSGIVKG MHKGSNRSSL MDTADGVPVS SRVSTKIQQL LNTLKRPKRP PLKEFFVDDS
EEIVEVPQPD PNQPKPEGRQ MTPVKGEPLG VICNWPPALE SALQRWGTTQ AKCSCLTALD
MTGKPVYTLT YGKLWSRSLK LAYTLLNKLG TKNEPVLKPG DRVALVYPNN DPVMFMVAFY
GCLLAEVIPV PIEVPLTRKD AGGQQIGFLL GSCGIALALT SEVCLKGLPK TQNGEIVQFK
GWPRLKWVVT DSKYLSKPPK DWQPHISPAG TEPAYIEYKT SKEGSVMGVT VSRLAMLSHC
QALSQACNYS EGETIVNVLD FKKDAGLWHG MFANVMNKMH TISVPYSVMK TCPLSWVQRV
HAHKAKVALV KCRDLHWAMM AHRDQRDVSL SSLRMLIVTD GANPWSVSSC DAFLSLFQSH
GLKPEAICPC ATSAEAMTVA IRRPGVPGAP LPGRAILSMN GLSYGVIRVN TEDKNSALTV
QDVGHVMPGG MMCIVKPDGP PQLCKTDEIG EICVSSRTGG MMYFGLAGVT KNTFEVIPVN
SAGSPVGDVP FIRSGLLGFV GPGSLVFVVG KMDGLLMVSG RRHNADDIVA TGLAVESIKT
VYRGRIAVFS VSVFYDERIV VVAEQRPDAS EEDSFQWMSR VLQAIDSIHQ VGVYCLALVP
ANTLPKTPLG GIHISQTKQL FLEGSLHPCN ILMCPHTCVT NLPKPRQKQP GVGPASVMVG
NLVAGKRIAQ AAGRDLGQIE ENDLVRKHQF LAEILQWRAQ ATPDHVLFML LNAKGTTVCT
ASCLQLHKRA ERIASVLGDK GHLNAGDNVV LLYPPGIELI AAFYGCLYAG CIPVTVRPPH
AQNLTATLPT VRMIVDVSKA ACILTSQTLM RLLRSREAAA AVDVKTWPTI IDTDDLPRKR
LPQLYKPPTP EMLAYLDFSV STTGMLTGVK MSHSAVNALC RAIKLQCELY SSRQIAICLD
PYCGLGFALW CLCSVYSGHQ SVLIPPMELE NNLFLWLSTV NQYKIRDTFC SYSVMELCTK
GLGNQVEVLK TRGINLSCVR TCVVVAEERP RVALQQSFSK LFKDIGLSPR AVSTTFGSRV
NVAICLQGTS GPDPTTVYVD LKSLRHDRVR LVERGAPQSL LLSESGKILP GVKVVIVNPE
TKGPVGDSHL GEIWVNSPHT ASGYYTIYDS ETLQADHFNT RLSFGDAAQT LWARTGYLGF
VRRTELTAAT GERHDALYVV GALDETLELR GLRYHPIDIE TSVSRIHRSI AECAVFTWTN
LLVVVVELCG SEQEALDLVP LVTNVVLEEH YLIVGVVVVV DPGVIPINSR GEKQRMHLRD
SFLADQLDPI YVAYNM
//
ID DIP2B_HUMAN Reviewed; 1576 AA.
AC Q9P265; Q6B011; Q8N1L5; Q8NB38;
DT 26-FEB-2008, integrated into UniProtKB/Swiss-Prot.
read moreDT 26-FEB-2008, sequence version 3.
DT 22-JAN-2014, entry version 77.
DE RecName: Full=Disco-interacting protein 2 homolog B;
DE Short=DIP2 homolog B;
GN Name=DIP2B; Synonyms=KIAA1463;
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 [LARGE SCALE GENOMIC DNA].
RX PubMed=16541075; DOI=10.1038/nature04569;
RA Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y.,
RA Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C.,
RA Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M.,
RA Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B.,
RA Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D.,
RA Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z.,
RA Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z.,
RA Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H.,
RA Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H.,
RA Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V.,
RA Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J.,
RA Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A.,
RA Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M.,
RA Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E.,
RA Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K.,
RA Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D.,
RA Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M.,
RA Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R.,
RA Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J.,
RA Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C.,
RA Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M.,
RA Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M.,
RA Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P.,
RA Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L.,
RA Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E.,
RA Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C.,
RA Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F.,
RA Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M.,
RA Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S.,
RA Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J.,
RA Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A.,
RA Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M.,
RA Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I.,
RA Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A.,
RA Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D.,
RA Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I.,
RA Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T.,
RA Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S.,
RA Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D.,
RA Kucherlapati R., Weinstock G., Gibbs R.A.;
RT "The finished DNA sequence of human chromosome 12.";
RL Nature 440:346-351(2006).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-372 AND 764-1576.
RC TISSUE=Brain, and Synovium;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
RA Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
RA Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
RA Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
RA Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
RA Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
RA Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
RA Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
RA Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
RA Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
RA Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
RA Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
RA Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
RA Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
RA Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
RA Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
RA Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
RA Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
RA Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
RA Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-372.
RC TISSUE=Brain;
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).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 411-1576, AND TISSUE
RP SPECIFICITY.
RC TISSUE=Fetal brain;
RX PubMed=10819331; DOI=10.1093/dnares/7.2.143;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVII.
RT The complete sequences of 100 new cDNA clones from brain which code
RT for large proteins in vitro.";
RL DNA Res. 7:143-150(2000).
RN [6]
RP TISSUE SPECIFICITY.
RX PubMed=17236128; DOI=10.1086/510800;
RA Winnepenninckx B., Debacker K., Ramsay J., Smeets D., Smits A.,
RA FitzPatrick D.R., Kooy R.F.;
RT "CGG-repeat expansion in the DIP2B gene is associated with the fragile
RT site FRA12A on chromosome 12q13.1.";
RL Am. J. Hum. Genet. 80:221-231(2007).
RN [7]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50; SER-53; THR-71;
RP SER-100; THR-140; SER-146 AND SER-148, AND MASS SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA Elledge S.J., Gygi S.P.;
RT "A quantitative atlas of mitotic phosphorylation.";
RL Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN [8]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-203, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA Rodionov V., Han D.K.;
RT "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT reveals system-wide modulation of protein-protein interactions.";
RL Sci. Signal. 2:RA46-RA46(2009).
RN [9]
RP PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-53 AND SER-100, AND MASS
RP SPECTROMETRY.
RC TISSUE=Cervix carcinoma;
RX PubMed=20068231; DOI=10.1126/scisignal.2000475;
RA Olsen J.V., Vermeulen M., Santamaria A., Kumar C., Miller M.L.,
RA Jensen L.J., Gnad F., Cox J., Jensen T.S., Nigg E.A., Brunak S.,
RA Mann M.;
RT "Quantitative phosphoproteomics reveals widespread full
RT phosphorylation site occupancy during mitosis.";
RL Sci. Signal. 3:RA3-RA3(2010).
RN [10]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX PubMed=21269460; DOI=10.1186/1752-0509-5-17;
RA Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P.,
RA Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.;
RT "Initial characterization of the human central proteome.";
RL BMC Syst. Biol. 5:17-17(2011).
CC -!- TISSUE SPECIFICITY: Moderately expressed in adult brain, placenta,
CC skeletal muscle, heart, kidney, pancreas, lung, spleen and colon.
CC Expression was weaker in adult liver, kidney, spleen, and ovary,
CC and in fetal brain and liver. In the brain, it is expressed in the
CC cerebral cortex; the frontal, parietal, occipital and temporal
CC lobes; the paracentral gyrus; the pons; the corpus callosum and
CC the hippocampus. Highest expression levels in the brain were found
CC in the cerebral cortex and the frontal and parietal lobes.
CC -!- SIMILARITY: Belongs to the DIP2 family.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAH75027.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
CC Sequence=BAC03705.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
CC Sequence=BAC05025.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC Sequence=EAW58149.1; Type=Erroneous gene model prediction;
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DR EMBL; AC078818; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; AC090058; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471111; EAW58149.1; ALT_SEQ; Genomic_DNA.
DR EMBL; AK091597; BAC03705.1; ALT_SEQ; mRNA.
DR EMBL; AK097369; BAC05025.1; ALT_INIT; mRNA.
DR EMBL; BC075027; AAH75027.1; ALT_SEQ; mRNA.
DR EMBL; AB040896; BAA95987.2; -; mRNA.
DR RefSeq; NP_775873.2; NM_173602.2.
DR UniGene; Hs.505516; -.
DR ProteinModelPortal; Q9P265; -.
DR SMR; Q9P265; 1025-1562.
DR IntAct; Q9P265; 2.
DR STRING; 9606.ENSP00000301180; -.
DR PhosphoSite; Q9P265; -.
DR DMDM; 172044681; -.
DR PaxDb; Q9P265; -.
DR PRIDE; Q9P265; -.
DR Ensembl; ENST00000301180; ENSP00000301180; ENSG00000066084.
DR GeneID; 57609; -.
DR KEGG; hsa:57609; -.
DR UCSC; uc001rwv.3; human.
DR CTD; 57609; -.
DR GeneCards; GC12P050898; -.
DR H-InvDB; HIX0010630; -.
DR HGNC; HGNC:29284; DIP2B.
DR HPA; HPA046133; -.
DR MIM; 611379; gene.
DR neXtProt; NX_Q9P265; -.
DR PharmGKB; PA143485449; -.
DR eggNOG; COG0318; -.
DR HOGENOM; HOG000045270; -.
DR HOVERGEN; HBG026594; -.
DR InParanoid; Q9P265; -.
DR OMA; CILTSQT; -.
DR OrthoDB; EOG7D59MW; -.
DR GenomeRNAi; 57609; -.
DR NextBio; 64255; -.
DR PRO; PR:Q9P265; -.
DR ArrayExpress; Q9P265; -.
DR Bgee; Q9P265; -.
DR CleanEx; HS_DIP2B; -.
DR Genevestigator; Q9P265; -.
DR GO; GO:0005634; C:nucleus; IEA:InterPro.
DR GO; GO:0003824; F:catalytic activity; IEA:InterPro.
DR InterPro; IPR000873; AMP-dep_Synth/Lig.
DR InterPro; IPR010506; DMAP1-bd.
DR Pfam; PF00501; AMP-binding; 2.
DR Pfam; PF06464; DMAP_binding; 1.
PE 1: Evidence at protein level;
KW Complete proteome; Phosphoprotein; Polymorphism; Reference proteome.
FT CHAIN 1 1576 Disco-interacting protein 2 homolog B.
FT /FTId=PRO_0000318736.
FT COMPBIAS 145 234 Ser-rich.
FT COMPBIAS 1118 1121 Poly-Ala.
FT COMPBIAS 1503 1506 Poly-Val.
FT COMPBIAS 1534 1540 Poly-Val.
FT MOD_RES 50 50 Phosphoserine.
FT MOD_RES 53 53 Phosphoserine.
FT MOD_RES 71 71 Phosphothreonine.
FT MOD_RES 100 100 Phosphoserine.
FT MOD_RES 140 140 Phosphothreonine.
FT MOD_RES 146 146 Phosphoserine.
FT MOD_RES 148 148 Phosphoserine.
FT MOD_RES 203 203 Phosphoserine.
FT VARIANT 792 792 I -> V (in dbSNP:rs11169525).
FT /FTId=VAR_038861.
FT CONFLICT 216 216 F -> L (in Ref. 3; BAC03705).
FT CONFLICT 245 245 S -> P (in Ref. 3; BAC03705).
FT CONFLICT 1432 1432 W -> R (in Ref. 3; BAC05025).
SQ SEQUENCE 1576 AA; 171492 MW; 351AC2C3E4B72E31 CRC64;
MAERGLEPSP AAVAALPPEV RAQLAELELE LSEGDITQKG YEKKRSKLLS PYSPQTQETD
SAVQKELRNQ TPAPSAAQTS APSKYHRTRS GGARDERYRS DIHTEAVQAA LAKHKEQKMA
LPMPTKRRST FVQSPADACT PPDTSSASED EGSLRRQAAL SAALQQSLQN AESWINRSIQ
GSSTSSSASS TLSHGEVKGT SGSLADVFAN TRIENFSAPP DVTTTTSSSS SSSSIRPANI
DLPPSGIVKG MHKGSNRSSL MDTADGVPVS SRVSTKIQQL LNTLKRPKRP PLKEFFVDDS
EEIVEVPQPD PNQPKPEGRQ MTPVKGEPLG VICNWPPALE SALQRWGTTQ AKCSCLTALD
MTGKPVYTLT YGKLWSRSLK LAYTLLNKLG TKNEPVLKPG DRVALVYPNN DPVMFMVAFY
GCLLAEVIPV PIEVPLTRKD AGGQQIGFLL GSCGIALALT SEVCLKGLPK TQNGEIVQFK
GWPRLKWVVT DSKYLSKPPK DWQPHISPAG TEPAYIEYKT SKEGSVMGVT VSRLAMLSHC
QALSQACNYS EGETIVNVLD FKKDAGLWHG MFANVMNKMH TISVPYSVMK TCPLSWVQRV
HAHKAKVALV KCRDLHWAMM AHRDQRDVSL SSLRMLIVTD GANPWSVSSC DAFLSLFQSH
GLKPEAICPC ATSAEAMTVA IRRPGVPGAP LPGRAILSMN GLSYGVIRVN TEDKNSALTV
QDVGHVMPGG MMCIVKPDGP PQLCKTDEIG EICVSSRTGG MMYFGLAGVT KNTFEVIPVN
SAGSPVGDVP FIRSGLLGFV GPGSLVFVVG KMDGLLMVSG RRHNADDIVA TGLAVESIKT
VYRGRIAVFS VSVFYDERIV VVAEQRPDAS EEDSFQWMSR VLQAIDSIHQ VGVYCLALVP
ANTLPKTPLG GIHISQTKQL FLEGSLHPCN ILMCPHTCVT NLPKPRQKQP GVGPASVMVG
NLVAGKRIAQ AAGRDLGQIE ENDLVRKHQF LAEILQWRAQ ATPDHVLFML LNAKGTTVCT
ASCLQLHKRA ERIASVLGDK GHLNAGDNVV LLYPPGIELI AAFYGCLYAG CIPVTVRPPH
AQNLTATLPT VRMIVDVSKA ACILTSQTLM RLLRSREAAA AVDVKTWPTI IDTDDLPRKR
LPQLYKPPTP EMLAYLDFSV STTGMLTGVK MSHSAVNALC RAIKLQCELY SSRQIAICLD
PYCGLGFALW CLCSVYSGHQ SVLIPPMELE NNLFLWLSTV NQYKIRDTFC SYSVMELCTK
GLGNQVEVLK TRGINLSCVR TCVVVAEERP RVALQQSFSK LFKDIGLSPR AVSTTFGSRV
NVAICLQGTS GPDPTTVYVD LKSLRHDRVR LVERGAPQSL LLSESGKILP GVKVVIVNPE
TKGPVGDSHL GEIWVNSPHT ASGYYTIYDS ETLQADHFNT RLSFGDAAQT LWARTGYLGF
VRRTELTAAT GERHDALYVV GALDETLELR GLRYHPIDIE TSVSRIHRSI AECAVFTWTN
LLVVVVELCG SEQEALDLVP LVTNVVLEEH YLIVGVVVVV DPGVIPINSR GEKQRMHLRD
SFLADQLDPI YVAYNM
//
MIM
611379
*RECORD*
*FIELD* NO
611379
*FIELD* TI
*611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B
;;KIAA1463
*FIELD* TX
read more
CLONING
By sequencing clones obtained from a size-fractionated fetal brain cDNA
library, Nagase et al. (2000) cloned DIP2B, which they designated
KIAA1463. The transcript contains a repetitive element in its 3-prime
UTR. RT-PCR ELISA detected moderate expression in adult brain and in all
specific adult brain regions examined. Expression was weaker in adult
liver, kidney, spleen, and ovary, and in fetal brain and liver, with
little to no expression in all other tissues examined.
Winnepenninckx et al. (2007) identified DIP2B as the gene associated
with fragile site FRA12A (136630) on chromosome 12. The predicted
1,576-amino acid DIP2B protein contains a DMAP1 (DNMAP1; 605077)-binding
domain and 2 AMP-binding domains. Northern blot analysis detected a 9-kb
transcript in most tissues examined. Within specific brain regions,
highest expression was in cerebral cortex and frontal and parietal
lobes.
GENE STRUCTURE
Winnepenninckx et al. (2007) determined that the DIP2B gene contains 38
exons.
MAPPING
By FISH and genomic sequence analysis, Winnepenninckx et al. (2007)
mapped the DIP2B gene to chromosome 12q13.12.
MOLECULAR GENETICS
In 2 patients with mental retardation associated with FRA12A,
Winnepenninckx et al. (2007) identified a CGG repeat expansion in the
5-prime untranslated region of the DIP2B gene (611379.0001).
*FIELD* AV
.0001
MENTAL RETARDATION, FRA12A TYPE
DIP2B, CGG(n) EXPANSION
In 2 patients with mental retardation associated with FRA12A (136630),
Winnepenninckx et al. (2007) identified a polymorphic CGG repeat
expansion in the 5-prime untranslated region of the DIP2B gene. The
length of the expanded allele in the affected individuals was greater
than 1,050 to 1,150 basepairs, whereas unaffected FRA12A family carriers
had 650 to 860 basepairs. In 7 individuals with significant
neurocognitive problems reported in the literature, the average level of
FRA12A expression in lymphocytes was 43.7%, whereas that in unaffected
carrier individuals was 16.6%. The percentage of cytogenetic expression
of FRA12A was thus associated with the clinical phenotype. DIP2B mRNA
levels were halved in 2 subjects with FRA12A with mental retardation in
whom the repeat expansion was methylated. In 2 individuals without
mental retardation but with an expanded and methylated repeat, DIP2B
expression was reduced to approximately two-thirds of the values
observed in controls. A carrier of an unmethylated CGG repeat expansion
showed increased levels of DIP2B mRNA, which suggested that the repeat
elongation increases gene expression.
*FIELD* RF
1. Nagase, T.; Kikuno, R.; Ishikawa, K.; Hirosawa, M.; Ohara, O.:
Prediction of the coding sequences of unidentified human genes. XVII.
The complete sequences of 100 new cDNA clones from brain which code
for large proteins in vitro. DNA Res. 7: 143-150, 2000.
2. Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.; Smits,
A.; FitzPatrick, D. R.; Kooy, R. F.: CGG-repeat expansion in the
DIP2B gene is associated with the fragile site FRA12A on chromosome
12q13.1. Am. J. Hum. Genet. 80: 221-231, 2007.
*FIELD* CN
Cassandra L. Kniffin - updated: 8/28/2007
*FIELD* CD
Patricia A. Hartz: 8/27/2007
*FIELD* ED
wwang: 09/06/2007
ckniffin: 8/28/2007
mgross: 8/27/2007
*RECORD*
*FIELD* NO
611379
*FIELD* TI
*611379 DISCO-INTERACTING PROTEIN 2, DROSOPHILA, HOMOLOG OF, B; DIP2B
;;KIAA1463
*FIELD* TX
read more
CLONING
By sequencing clones obtained from a size-fractionated fetal brain cDNA
library, Nagase et al. (2000) cloned DIP2B, which they designated
KIAA1463. The transcript contains a repetitive element in its 3-prime
UTR. RT-PCR ELISA detected moderate expression in adult brain and in all
specific adult brain regions examined. Expression was weaker in adult
liver, kidney, spleen, and ovary, and in fetal brain and liver, with
little to no expression in all other tissues examined.
Winnepenninckx et al. (2007) identified DIP2B as the gene associated
with fragile site FRA12A (136630) on chromosome 12. The predicted
1,576-amino acid DIP2B protein contains a DMAP1 (DNMAP1; 605077)-binding
domain and 2 AMP-binding domains. Northern blot analysis detected a 9-kb
transcript in most tissues examined. Within specific brain regions,
highest expression was in cerebral cortex and frontal and parietal
lobes.
GENE STRUCTURE
Winnepenninckx et al. (2007) determined that the DIP2B gene contains 38
exons.
MAPPING
By FISH and genomic sequence analysis, Winnepenninckx et al. (2007)
mapped the DIP2B gene to chromosome 12q13.12.
MOLECULAR GENETICS
In 2 patients with mental retardation associated with FRA12A,
Winnepenninckx et al. (2007) identified a CGG repeat expansion in the
5-prime untranslated region of the DIP2B gene (611379.0001).
*FIELD* AV
.0001
MENTAL RETARDATION, FRA12A TYPE
DIP2B, CGG(n) EXPANSION
In 2 patients with mental retardation associated with FRA12A (136630),
Winnepenninckx et al. (2007) identified a polymorphic CGG repeat
expansion in the 5-prime untranslated region of the DIP2B gene. The
length of the expanded allele in the affected individuals was greater
than 1,050 to 1,150 basepairs, whereas unaffected FRA12A family carriers
had 650 to 860 basepairs. In 7 individuals with significant
neurocognitive problems reported in the literature, the average level of
FRA12A expression in lymphocytes was 43.7%, whereas that in unaffected
carrier individuals was 16.6%. The percentage of cytogenetic expression
of FRA12A was thus associated with the clinical phenotype. DIP2B mRNA
levels were halved in 2 subjects with FRA12A with mental retardation in
whom the repeat expansion was methylated. In 2 individuals without
mental retardation but with an expanded and methylated repeat, DIP2B
expression was reduced to approximately two-thirds of the values
observed in controls. A carrier of an unmethylated CGG repeat expansion
showed increased levels of DIP2B mRNA, which suggested that the repeat
elongation increases gene expression.
*FIELD* RF
1. Nagase, T.; Kikuno, R.; Ishikawa, K.; Hirosawa, M.; Ohara, O.:
Prediction of the coding sequences of unidentified human genes. XVII.
The complete sequences of 100 new cDNA clones from brain which code
for large proteins in vitro. DNA Res. 7: 143-150, 2000.
2. Winnepenninckx, B.; Debacker, K.; Ramsay, J.; Smeets, D.; Smits,
A.; FitzPatrick, D. R.; Kooy, R. F.: CGG-repeat expansion in the
DIP2B gene is associated with the fragile site FRA12A on chromosome
12q13.1. Am. J. Hum. Genet. 80: 221-231, 2007.
*FIELD* CN
Cassandra L. Kniffin - updated: 8/28/2007
*FIELD* CD
Patricia A. Hartz: 8/27/2007
*FIELD* ED
wwang: 09/06/2007
ckniffin: 8/28/2007
mgross: 8/27/2007