Full text data of SLC44A2
SLC44A2
(CTL2)
[Confidence: medium (present in either hRBCD or BSc_CH or PM22954596)]
Choline transporter-like protein 2 (Solute carrier family 44 member 2)
Choline transporter-like protein 2 (Solute carrier family 44 member 2)
Comments
Isoform Q8IWA5-2 was detected.
Isoform Q8IWA5-2 was detected.
UniProt
Q8IWA5
ID CTL2_HUMAN Reviewed; 706 AA.
AC Q8IWA5; B2RBB1; B3KNH3; B4DFJ0; F2Q9D7; Q658V1; Q658Z2; Q6PJV7;
read moreAC Q8N2F0; Q9NY68;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 22-JAN-2014, entry version 100.
DE RecName: Full=Choline transporter-like protein 2;
DE AltName: Full=Solute carrier family 44 member 2;
GN Name=SLC44A2; Synonyms=CTL2; ORFNames=PSEC0210;
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 [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1),
RP FUNCTION, AND VARIANT ARG-154.
RX PubMed=10677542; DOI=10.1073/pnas.030339697;
RA O'Regan S., Traiffort E., Ruat M., Cha N., Compaore D., Meunier F.-M.;
RT "An electric lobe suppressor for a yeast choline transport mutation
RT belongs to a new family of transporter-like proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:1835-1840(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE, TISSUE SPECIFICITY,
RP AND VARIANT ARG-154.
RC TISSUE=Epithelium, and Inner ear;
RX PubMed=14973250; DOI=10.1523/JNEUROSCI.5063-03.2004;
RA Nair T.S., Kozma K.E., Hoefling N.L., Kommareddi P.K., Ueda Y.,
RA Gong T.-W., Lomax M.I., Lansford C.D., Telian S.A., Satar B.,
RA Arts H.A., El-Kashlan H.K., Berryhill W.E., Raphael Y., Carey T.E.;
RT "Identification and characterization of choline transporter-like
RT protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the
RT target of antibody-induced hearing loss.";
RL J. Neurosci. 24:1772-1779(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Santoso S.S., Bayat B.B., Sachs U.;
RT "Detection of HNA-3b antibodies in patient sera.";
RL Submitted (APR-2011) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 565-706 (ISOFORM 2), AND VARIANT
RP ARG-154.
RC TISSUE=Brain cortex, Placenta, and Teratocarcinoma;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-154.
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP ARG-154.
RC TISSUE=Eye, and Testis;
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-706 (ISOFORM 1),
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 273-706 (ISOFORM 2), AND
RP VARIANT ARG-154.
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 321-706 (ISOFORM 1).
RC TISSUE=Embryo;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 663-706 (ISOFORM 3).
RA Yu W., Gibbs R.A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP INTERACTION WITH COCH.
RX PubMed=17926100; DOI=10.1007/s10162-007-0099-2;
RA Kommareddi P.K., Nair T.S., Raphael Y., Telian S.A., Kim A.H.,
RA Arts H.A., El-Kashlan H.K., Carey T.E.;
RT "Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the
RT inner ear.";
RL J. Assoc. Res. Otolaryngol. 8:435-446(2007).
RN [12]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-
RT linked cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
RN [14]
RP FUNCTION, ALTERNATIVE PROMOTER USAGE, AND TISSUE SPECIFICITY.
RX PubMed=20665236; DOI=10.1007/s10930-010-9268-y;
RA Kommareddi P.K., Nair T.S., Thang L.V., Galano M.M., Babu E.,
RA Ganapathy V., Kanazawa T., McHugh J.B., Carey T.E.;
RT "Isoforms, expression, glycosylation, and tissue distribution of
RT CTL2/SLC44A2.";
RL Protein J. 29:417-426(2010).
CC -!- FUNCTION: Isoform 1, but not isoform 3, exhibits some choline
CC transporter activity.
CC -!- SUBUNIT: Interacts with COCH.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By
CC similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=CTL2a, CTL2P2A;
CC IsoId=Q8IWA5-1; Sequence=Displayed;
CC Name=2; Synonyms=CTL2b, CTL2P2B;
CC IsoId=Q8IWA5-2; Sequence=VSP_015431;
CC Name=3; Synonyms=CTL2P1;
CC IsoId=Q8IWA5-3; Sequence=VSP_041792;
CC Note=Produced by alternative promoter usage;
CC -!- TISSUE SPECIFICITY: Present in supporting cells of the inner ear
CC (at protein level). Only isoform 3 is expressed in inner ear
CC vestibular tissue.
CC -!- SIMILARITY: Belongs to the CTL (choline transporter-like) family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC11662.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
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DR EMBL; AJ245621; CAB75542.1; -; Genomic_DNA.
DR EMBL; FN668568; CBJ93592.1; -; mRNA.
DR EMBL; AK027519; BAG51335.1; -; mRNA.
DR EMBL; AK294118; BAG57451.1; -; mRNA.
DR EMBL; AK314582; BAG37158.1; -; mRNA.
DR EMBL; AC011475; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471106; EAW84126.1; -; Genomic_DNA.
DR EMBL; BC010617; AAH10617.1; -; mRNA.
DR EMBL; BC040556; AAH40556.1; -; mRNA.
DR EMBL; AL832517; CAH56352.1; -; mRNA.
DR EMBL; AL832978; CAH56342.1; -; mRNA.
DR EMBL; AK075512; BAC11662.1; ALT_INIT; mRNA.
DR EMBL; AF070636; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001138528.1; NM_001145056.1.
DR RefSeq; NP_065161.3; NM_020428.3.
DR RefSeq; XP_005260054.1; XM_005259997.1.
DR RefSeq; XP_005260055.1; XM_005259998.1.
DR UniGene; Hs.534560; -.
DR ProteinModelPortal; Q8IWA5; -.
DR MINT; MINT-5006445; -.
DR STRING; 9606.ENSP00000336888; -.
DR DrugBank; DB00122; Choline.
DR TCDB; 2.A.92.1.4; the choline transporter-like (ctl) family.
DR PhosphoSite; Q8IWA5; -.
DR DMDM; 311033462; -.
DR PaxDb; Q8IWA5; -.
DR PeptideAtlas; Q8IWA5; -.
DR PRIDE; Q8IWA5; -.
DR Ensembl; ENST00000335757; ENSP00000336888; ENSG00000129353.
DR Ensembl; ENST00000407327; ENSP00000385135; ENSG00000129353.
DR Ensembl; ENST00000586078; ENSP00000466664; ENSG00000129353.
DR GeneID; 57153; -.
DR KEGG; hsa:57153; -.
DR UCSC; uc002mpf.3; human.
DR CTD; 57153; -.
DR GeneCards; GC19P010713; -.
DR H-InvDB; HIX0202740; -.
DR HGNC; HGNC:17292; SLC44A2.
DR HPA; HPA003228; -.
DR MIM; 606106; gene.
DR neXtProt; NX_Q8IWA5; -.
DR PharmGKB; PA142670899; -.
DR eggNOG; NOG310633; -.
DR HOVERGEN; HBG062155; -.
DR InParanoid; Q8IWA5; -.
DR KO; K15377; -.
DR OMA; QTWMAFM; -.
DR OrthoDB; EOG7FR7G4; -.
DR PhylomeDB; Q8IWA5; -.
DR Reactome; REACT_111217; Metabolism.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR Reactome; REACT_20679; Amine compound SLC transporters.
DR ChiTaRS; SLC44A2; human.
DR GeneWiki; SLC44A2; -.
DR GenomeRNAi; 57153; -.
DR NextBio; 63129; -.
DR PRO; PR:Q8IWA5; -.
DR ArrayExpress; Q8IWA5; -.
DR Bgee; Q8IWA5; -.
DR CleanEx; HS_SLC44A2; -.
DR Genevestigator; Q8IWA5; -.
DR GO; GO:0016021; C:integral to membrane; TAS:UniProtKB.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0015220; F:choline transmembrane transporter activity; TAS:UniProtKB.
DR GO; GO:0004871; F:signal transducer activity; IMP:UniProtKB.
DR GO; GO:0006656; P:phosphatidylcholine biosynthetic process; TAS:Reactome.
DR GO; GO:0043123; P:positive regulation of I-kappaB kinase/NF-kappaB cascade; IMP:UniProtKB.
DR InterPro; IPR007603; Choline_transptr-like.
DR PANTHER; PTHR12385; PTHR12385; 1.
DR Pfam; PF04515; Choline_transpo; 1.
PE 1: Evidence at protein level;
KW Alternative promoter usage; Alternative splicing; Complete proteome;
KW Glycoprotein; Membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 706 Choline transporter-like protein 2.
FT /FTId=PRO_0000191717.
FT TOPO_DOM 1 33 Cytoplasmic (Potential).
FT TRANSMEM 34 54 Helical; (Potential).
FT TOPO_DOM 55 232 Extracellular (Potential).
FT TRANSMEM 233 253 Helical; (Potential).
FT TOPO_DOM 254 256 Cytoplasmic (Potential).
FT TRANSMEM 257 277 Helical; (Potential).
FT TOPO_DOM 278 315 Extracellular (Potential).
FT TRANSMEM 316 336 Helical; (Potential).
FT TOPO_DOM 337 364 Cytoplasmic (Potential).
FT TRANSMEM 365 385 Helical; (Potential).
FT TOPO_DOM 386 457 Extracellular (Potential).
FT TRANSMEM 458 480 Helical; (Potential).
FT TOPO_DOM 481 504 Cytoplasmic (Potential).
FT TRANSMEM 505 525 Helical; (Potential).
FT TOPO_DOM 526 563 Extracellular (Potential).
FT TRANSMEM 564 584 Helical; (Potential).
FT TOPO_DOM 585 599 Cytoplasmic (Potential).
FT TRANSMEM 600 620 Helical; (Potential).
FT TOPO_DOM 621 638 Extracellular (Potential).
FT TRANSMEM 639 659 Helical; (Potential).
FT TOPO_DOM 660 706 Cytoplasmic (Potential).
FT CARBOHYD 187 187 N-linked (GlcNAc...).
FT CARBOHYD 200 200 N-linked (GlcNAc...).
FT CARBOHYD 417 417 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 12 MGDERPHYYGKH -> MEDERKNGAY (in isoform
FT 3).
FT /FTId=VSP_041792.
FT VAR_SEQ 672 706 LEDLERNDGSAERPYFMSSTLKKLLNKTNKKAAES -> CE
FT DLERNDGSQERPYFMSPELRDILLKGSAEEGKRAEAEE
FT (in isoform 2).
FT /FTId=VSP_015431.
FT VARIANT 154 154 Q -> R (in dbSNP:rs2288904).
FT /FTId=VAR_023404.
FT CONFLICT 92 92 I -> T (in Ref. 4; BAG51335).
FT CONFLICT 153 153 L -> F (in Ref. 3; CBJ93592).
FT CONFLICT 531 531 A -> G (in Ref. 1; CAB75542).
FT CONFLICT 695 695 L -> P (in Ref. 7; AAH40556).
SQ SEQUENCE 706 AA; 80124 MW; 9A044A531930326E CRC64;
MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLQDGDCPA VLIPSKPLAR RCFPAIHAYK
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY
GMCVDTLFLC FLEDLERNDG SAERPYFMSS TLKKLLNKTN KKAAES
//
ID CTL2_HUMAN Reviewed; 706 AA.
AC Q8IWA5; B2RBB1; B3KNH3; B4DFJ0; F2Q9D7; Q658V1; Q658Z2; Q6PJV7;
read moreAC Q8N2F0; Q9NY68;
DT 30-AUG-2005, integrated into UniProtKB/Swiss-Prot.
DT 02-NOV-2010, sequence version 3.
DT 22-JAN-2014, entry version 100.
DE RecName: Full=Choline transporter-like protein 2;
DE AltName: Full=Solute carrier family 44 member 2;
GN Name=SLC44A2; Synonyms=CTL2; ORFNames=PSEC0210;
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 [GENOMIC DNA], ALTERNATIVE SPLICING (ISOFORM 1),
RP FUNCTION, AND VARIANT ARG-154.
RX PubMed=10677542; DOI=10.1073/pnas.030339697;
RA O'Regan S., Traiffort E., Ruat M., Cha N., Compaore D., Meunier F.-M.;
RT "An electric lobe suppressor for a yeast choline transport mutation
RT belongs to a new family of transporter-like proteins.";
RL Proc. Natl. Acad. Sci. U.S.A. 97:1835-1840(2000).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), DISEASE, TISSUE SPECIFICITY,
RP AND VARIANT ARG-154.
RC TISSUE=Epithelium, and Inner ear;
RX PubMed=14973250; DOI=10.1523/JNEUROSCI.5063-03.2004;
RA Nair T.S., Kozma K.E., Hoefling N.L., Kommareddi P.K., Ueda Y.,
RA Gong T.-W., Lomax M.I., Lansford C.D., Telian S.A., Satar B.,
RA Arts H.A., El-Kashlan H.K., Berryhill W.E., Raphael Y., Carey T.E.;
RT "Identification and characterization of choline transporter-like
RT protein 2, an inner ear glycoprotein of 68 and 72 kDa that is the
RT target of antibody-induced hearing loss.";
RL J. Neurosci. 24:1772-1779(2004).
RN [3]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
RA Santoso S.S., Bayat B.B., Sachs U.;
RT "Detection of HNA-3b antibodies in patient sera.";
RL Submitted (APR-2011) to the EMBL/GenBank/DDBJ databases.
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), NUCLEOTIDE
RP SEQUENCE [LARGE SCALE MRNA] OF 565-706 (ISOFORM 2), AND VARIANT
RP ARG-154.
RC TISSUE=Brain cortex, Placenta, and Teratocarcinoma;
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 [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15057824; DOI=10.1038/nature02399;
RA Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J.,
RA Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M.,
RA Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E.,
RA Caenepeel S., Carrano A.V., Caoile C., Chan Y.M., Christensen M.,
RA Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C.,
RA Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M.,
RA Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T.,
RA Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H.,
RA Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S.,
RA Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J.,
RA Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M.,
RA Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J.,
RA Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D.,
RA Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A.,
RA Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I.,
RA Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E.,
RA Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M.,
RA Rubin E.M., Lucas S.M.;
RT "The DNA sequence and biology of human chromosome 19.";
RL Nature 428:529-535(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-154.
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 [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANT
RP ARG-154.
RC TISSUE=Eye, and Testis;
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 [8]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 60-706 (ISOFORM 1),
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 273-706 (ISOFORM 2), AND
RP VARIANT ARG-154.
RC TISSUE=Stomach;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [9]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 321-706 (ISOFORM 1).
RC TISSUE=Embryo;
RX PubMed=16303743; DOI=10.1093/dnares/12.2.117;
RA Otsuki T., Ota T., Nishikawa T., Hayashi K., Suzuki Y., Yamamoto J.,
RA Wakamatsu A., Kimura K., Sakamoto K., Hatano N., Kawai Y., Ishii S.,
RA Saito K., Kojima S., Sugiyama T., Ono T., Okano K., Yoshikawa Y.,
RA Aotsuka S., Sasaki N., Hattori A., Okumura K., Nagai K., Sugano S.,
RA Isogai T.;
RT "Signal sequence and keyword trap in silico for selection of full-
RT length human cDNAs encoding secretion or membrane proteins from oligo-
RT capped cDNA libraries.";
RL DNA Res. 12:117-126(2005).
RN [10]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 663-706 (ISOFORM 3).
RA Yu W., Gibbs R.A.;
RL Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases.
RN [11]
RP INTERACTION WITH COCH.
RX PubMed=17926100; DOI=10.1007/s10162-007-0099-2;
RA Kommareddi P.K., Nair T.S., Raphael Y., Telian S.A., Kim A.H.,
RA Arts H.A., El-Kashlan H.K., Carey T.E.;
RT "Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the
RT inner ear.";
RL J. Assoc. Res. Otolaryngol. 8:435-446(2007).
RN [12]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200, AND MASS
RP SPECTROMETRY.
RC TISSUE=Liver;
RX PubMed=19159218; DOI=10.1021/pr8008012;
RA Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.;
RT "Glycoproteomics analysis of human liver tissue by combination of
RT multiple enzyme digestion and hydrazide chemistry.";
RL J. Proteome Res. 8:651-661(2009).
RN [13]
RP GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-187 AND ASN-200, AND MASS
RP SPECTROMETRY.
RC TISSUE=Leukemic T-cell;
RX PubMed=19349973; DOI=10.1038/nbt.1532;
RA Wollscheid B., Bausch-Fluck D., Henderson C., O'Brien R., Bibel M.,
RA Schiess R., Aebersold R., Watts J.D.;
RT "Mass-spectrometric identification and relative quantification of N-
RT linked cell surface glycoproteins.";
RL Nat. Biotechnol. 27:378-386(2009).
RN [14]
RP FUNCTION, ALTERNATIVE PROMOTER USAGE, AND TISSUE SPECIFICITY.
RX PubMed=20665236; DOI=10.1007/s10930-010-9268-y;
RA Kommareddi P.K., Nair T.S., Thang L.V., Galano M.M., Babu E.,
RA Ganapathy V., Kanazawa T., McHugh J.B., Carey T.E.;
RT "Isoforms, expression, glycosylation, and tissue distribution of
RT CTL2/SLC44A2.";
RL Protein J. 29:417-426(2010).
CC -!- FUNCTION: Isoform 1, but not isoform 3, exhibits some choline
CC transporter activity.
CC -!- SUBUNIT: Interacts with COCH.
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein (By
CC similarity).
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative promoter usage, Alternative splicing; Named isoforms=3;
CC Name=1; Synonyms=CTL2a, CTL2P2A;
CC IsoId=Q8IWA5-1; Sequence=Displayed;
CC Name=2; Synonyms=CTL2b, CTL2P2B;
CC IsoId=Q8IWA5-2; Sequence=VSP_015431;
CC Name=3; Synonyms=CTL2P1;
CC IsoId=Q8IWA5-3; Sequence=VSP_041792;
CC Note=Produced by alternative promoter usage;
CC -!- TISSUE SPECIFICITY: Present in supporting cells of the inner ear
CC (at protein level). Only isoform 3 is expressed in inner ear
CC vestibular tissue.
CC -!- SIMILARITY: Belongs to the CTL (choline transporter-like) family.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAC11662.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
CC -----------------------------------------------------------------------
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DR EMBL; AJ245621; CAB75542.1; -; Genomic_DNA.
DR EMBL; FN668568; CBJ93592.1; -; mRNA.
DR EMBL; AK027519; BAG51335.1; -; mRNA.
DR EMBL; AK294118; BAG57451.1; -; mRNA.
DR EMBL; AK314582; BAG37158.1; -; mRNA.
DR EMBL; AC011475; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471106; EAW84126.1; -; Genomic_DNA.
DR EMBL; BC010617; AAH10617.1; -; mRNA.
DR EMBL; BC040556; AAH40556.1; -; mRNA.
DR EMBL; AL832517; CAH56352.1; -; mRNA.
DR EMBL; AL832978; CAH56342.1; -; mRNA.
DR EMBL; AK075512; BAC11662.1; ALT_INIT; mRNA.
DR EMBL; AF070636; -; NOT_ANNOTATED_CDS; mRNA.
DR RefSeq; NP_001138528.1; NM_001145056.1.
DR RefSeq; NP_065161.3; NM_020428.3.
DR RefSeq; XP_005260054.1; XM_005259997.1.
DR RefSeq; XP_005260055.1; XM_005259998.1.
DR UniGene; Hs.534560; -.
DR ProteinModelPortal; Q8IWA5; -.
DR MINT; MINT-5006445; -.
DR STRING; 9606.ENSP00000336888; -.
DR DrugBank; DB00122; Choline.
DR TCDB; 2.A.92.1.4; the choline transporter-like (ctl) family.
DR PhosphoSite; Q8IWA5; -.
DR DMDM; 311033462; -.
DR PaxDb; Q8IWA5; -.
DR PeptideAtlas; Q8IWA5; -.
DR PRIDE; Q8IWA5; -.
DR Ensembl; ENST00000335757; ENSP00000336888; ENSG00000129353.
DR Ensembl; ENST00000407327; ENSP00000385135; ENSG00000129353.
DR Ensembl; ENST00000586078; ENSP00000466664; ENSG00000129353.
DR GeneID; 57153; -.
DR KEGG; hsa:57153; -.
DR UCSC; uc002mpf.3; human.
DR CTD; 57153; -.
DR GeneCards; GC19P010713; -.
DR H-InvDB; HIX0202740; -.
DR HGNC; HGNC:17292; SLC44A2.
DR HPA; HPA003228; -.
DR MIM; 606106; gene.
DR neXtProt; NX_Q8IWA5; -.
DR PharmGKB; PA142670899; -.
DR eggNOG; NOG310633; -.
DR HOVERGEN; HBG062155; -.
DR InParanoid; Q8IWA5; -.
DR KO; K15377; -.
DR OMA; QTWMAFM; -.
DR OrthoDB; EOG7FR7G4; -.
DR PhylomeDB; Q8IWA5; -.
DR Reactome; REACT_111217; Metabolism.
DR Reactome; REACT_15518; Transmembrane transport of small molecules.
DR Reactome; REACT_20679; Amine compound SLC transporters.
DR ChiTaRS; SLC44A2; human.
DR GeneWiki; SLC44A2; -.
DR GenomeRNAi; 57153; -.
DR NextBio; 63129; -.
DR PRO; PR:Q8IWA5; -.
DR ArrayExpress; Q8IWA5; -.
DR Bgee; Q8IWA5; -.
DR CleanEx; HS_SLC44A2; -.
DR Genevestigator; Q8IWA5; -.
DR GO; GO:0016021; C:integral to membrane; TAS:UniProtKB.
DR GO; GO:0005765; C:lysosomal membrane; IDA:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0015220; F:choline transmembrane transporter activity; TAS:UniProtKB.
DR GO; GO:0004871; F:signal transducer activity; IMP:UniProtKB.
DR GO; GO:0006656; P:phosphatidylcholine biosynthetic process; TAS:Reactome.
DR GO; GO:0043123; P:positive regulation of I-kappaB kinase/NF-kappaB cascade; IMP:UniProtKB.
DR InterPro; IPR007603; Choline_transptr-like.
DR PANTHER; PTHR12385; PTHR12385; 1.
DR Pfam; PF04515; Choline_transpo; 1.
PE 1: Evidence at protein level;
KW Alternative promoter usage; Alternative splicing; Complete proteome;
KW Glycoprotein; Membrane; Polymorphism; Reference proteome;
KW Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1 706 Choline transporter-like protein 2.
FT /FTId=PRO_0000191717.
FT TOPO_DOM 1 33 Cytoplasmic (Potential).
FT TRANSMEM 34 54 Helical; (Potential).
FT TOPO_DOM 55 232 Extracellular (Potential).
FT TRANSMEM 233 253 Helical; (Potential).
FT TOPO_DOM 254 256 Cytoplasmic (Potential).
FT TRANSMEM 257 277 Helical; (Potential).
FT TOPO_DOM 278 315 Extracellular (Potential).
FT TRANSMEM 316 336 Helical; (Potential).
FT TOPO_DOM 337 364 Cytoplasmic (Potential).
FT TRANSMEM 365 385 Helical; (Potential).
FT TOPO_DOM 386 457 Extracellular (Potential).
FT TRANSMEM 458 480 Helical; (Potential).
FT TOPO_DOM 481 504 Cytoplasmic (Potential).
FT TRANSMEM 505 525 Helical; (Potential).
FT TOPO_DOM 526 563 Extracellular (Potential).
FT TRANSMEM 564 584 Helical; (Potential).
FT TOPO_DOM 585 599 Cytoplasmic (Potential).
FT TRANSMEM 600 620 Helical; (Potential).
FT TOPO_DOM 621 638 Extracellular (Potential).
FT TRANSMEM 639 659 Helical; (Potential).
FT TOPO_DOM 660 706 Cytoplasmic (Potential).
FT CARBOHYD 187 187 N-linked (GlcNAc...).
FT CARBOHYD 200 200 N-linked (GlcNAc...).
FT CARBOHYD 417 417 N-linked (GlcNAc...) (Potential).
FT VAR_SEQ 1 12 MGDERPHYYGKH -> MEDERKNGAY (in isoform
FT 3).
FT /FTId=VSP_041792.
FT VAR_SEQ 672 706 LEDLERNDGSAERPYFMSSTLKKLLNKTNKKAAES -> CE
FT DLERNDGSQERPYFMSPELRDILLKGSAEEGKRAEAEE
FT (in isoform 2).
FT /FTId=VSP_015431.
FT VARIANT 154 154 Q -> R (in dbSNP:rs2288904).
FT /FTId=VAR_023404.
FT CONFLICT 92 92 I -> T (in Ref. 4; BAG51335).
FT CONFLICT 153 153 L -> F (in Ref. 3; CBJ93592).
FT CONFLICT 531 531 A -> G (in Ref. 1; CAB75542).
FT CONFLICT 695 695 L -> P (in Ref. 7; AAH40556).
SQ SEQUENCE 706 AA; 80124 MW; 9A044A531930326E CRC64;
MGDERPHYYG KHGTPQKYDP TFKGPIYNRG CTDIICCVFL LLAIVGYVAV GIIAWTHGDP
RKVIYPTDSR GEFCGQKGTK NENKPYLFYF NIVKCASPLV LLEFQCPTPQ ICVEKCPDRY
LTYLNARSSR DFEYYKQFCV PGFKNNKGVA EVLQDGDCPA VLIPSKPLAR RCFPAIHAYK
GVLMVGNETT YEDGHGSRKN ITDLVEGAKK ANGVLEARQL AMRIFEDYTV SWYWIIIGLV
IAMAMSLLFI ILLRFLAGIM VWVMIIMVIL VLGYGIFHCY MEYSRLRGEA GSDVSLVDLG
FQTDFRVYLH LRQTWLAFMI ILSILEVIII LLLIFLRKRI LIAIALIKEA SRAVGYVMCS
LLYPLVTFFL LCLCIAYWAS TAVFLSTSNE AVYKIFDDSP CPFTAKTCNP ETFPSSNESR
QCPNARCQFA FYGGESGYHR ALLGLQIFNA FMFFWLANFV LALGQVTLAG AFASYYWALR
KPDDLPAFPL FSAFGRALRY HTGSLAFGAL ILAIVQIIRV ILEYLDQRLK AAENKFAKCL
MTCLKCCFWC LEKFIKFLNR NAYIMIAIYG TNFCTSARNA FFLLMRNIIR VAVLDKVTDF
LFLLGKLLIV GSVGILAFFF FTHRIRIVQD TAPPLNYYWV PILTVIVGSY LIAHGFFSVY
GMCVDTLFLC FLEDLERNDG SAERPYFMSS TLKKLLNKTN KKAAES
//
MIM
606106
*RECORD*
*FIELD* NO
606106
*FIELD* TI
*606106 SOLUTE CARRIER FAMILY 44, MEMBER 2; SLC44A2
;;CHOLINE TRANSPORTER-LIKE PROTEIN 2; CTL2
read more*FIELD* TX
CLONING
Choline, a major constituent of cell membranes, participates in the
synthesis of acetylcholine in cholinergic neurons. It is taken up with
high affinity at cholinergic nerve terminals in a sodium-dependent
manner. O'Regan et al. (2000) cloned CTL1, a suppressor for a yeast
choline transport mutation, from a Torpedo electric lobe yeast
expression library by functional complementation. By EST database
searching and PCR on a sarcoma cell line, they obtained cDNAs encoding
human CTL1 (606105), CTL2, and CTL4 (606107). The predicted 706-amino
acid CTL2 protein is 43% and 67% homologous to human CTL1 and CTL4,
respectively. The CTL proteins contain 10 transmembrane domains and 11
highly conserved cysteines, and they lack signal peptides.
MAPPING
By STS analysis, O'Regan et al. (2000) mapped the CTL2 gene to
chromosome 19p13.1.
MOLECULAR GENETICS
Transfusion-related acute lung injury (TRALI) is a life-threatening
complication of blood transfusion. Severe TRALI is often due to
antibodies in blood components directed at human neutrophil
alloantigen-3a (HNA3a). Using serologic, flow cytometric, and
immunoprecipitation analyses of HNA3a-positive granulocytes together
with plasma containing HNA3a-specific antibodies, Greinacher et al.
(2010) identified an 80- to 100-kD protein that shifted to 64 kD after
deglycosylation. Peptide analysis identified the protein as SLC44A2.
Analysis of 54 individuals of known HNA3 phenotype revealed a 461A-G SNP
(dbSNP rs2288904), resulting in either gln or arg at residue 154, that
was fully concordant with HNA3 status. The 461G variant encodes arg154,
or HNA3a phenotype, whereas the 461A variant encodes gln154, or HNA3b
phenotype. The 461G variant was found in all 6 individuals who developed
TRALI after transfusion of HNA3a-specific alloantibody-containing blood
components. SNP array analysis suggested that approximately 95% of the
European population is either homozygous or heterozygous for 461G and is
therefore at risk for TRALI if transfused with anti-HNA3a-containing
products.
*FIELD* RF
1. Greinacher, A.; Wesche, J.; Hammer, E.; Furll, B.; Volker, U.;
Reil, A.; Bux, J.: Characterization of the human neutrophil alloantigen-3a. Nature
Med. 16: 45-48, 2010.
2. O'Regan, S.; Traiffort, E.; Ruat, M.; Cha, N.; Compaore, D.; Meunier,
F.-M.: An electric lobe suppressor for a yeast choline transport
mutation belongs to a new family of transporter-like proteins. Proc.
Nat. Acad. Sci. 97: 1835-1840, 2000.
*FIELD* CN
Paul J. Converse - updated: 2/4/2010
*FIELD* CD
Paul J. Converse: 7/12/2001
*FIELD* ED
mgross: 02/15/2010
terry: 2/4/2010
mgross: 7/12/2001
*RECORD*
*FIELD* NO
606106
*FIELD* TI
*606106 SOLUTE CARRIER FAMILY 44, MEMBER 2; SLC44A2
;;CHOLINE TRANSPORTER-LIKE PROTEIN 2; CTL2
read more*FIELD* TX
CLONING
Choline, a major constituent of cell membranes, participates in the
synthesis of acetylcholine in cholinergic neurons. It is taken up with
high affinity at cholinergic nerve terminals in a sodium-dependent
manner. O'Regan et al. (2000) cloned CTL1, a suppressor for a yeast
choline transport mutation, from a Torpedo electric lobe yeast
expression library by functional complementation. By EST database
searching and PCR on a sarcoma cell line, they obtained cDNAs encoding
human CTL1 (606105), CTL2, and CTL4 (606107). The predicted 706-amino
acid CTL2 protein is 43% and 67% homologous to human CTL1 and CTL4,
respectively. The CTL proteins contain 10 transmembrane domains and 11
highly conserved cysteines, and they lack signal peptides.
MAPPING
By STS analysis, O'Regan et al. (2000) mapped the CTL2 gene to
chromosome 19p13.1.
MOLECULAR GENETICS
Transfusion-related acute lung injury (TRALI) is a life-threatening
complication of blood transfusion. Severe TRALI is often due to
antibodies in blood components directed at human neutrophil
alloantigen-3a (HNA3a). Using serologic, flow cytometric, and
immunoprecipitation analyses of HNA3a-positive granulocytes together
with plasma containing HNA3a-specific antibodies, Greinacher et al.
(2010) identified an 80- to 100-kD protein that shifted to 64 kD after
deglycosylation. Peptide analysis identified the protein as SLC44A2.
Analysis of 54 individuals of known HNA3 phenotype revealed a 461A-G SNP
(dbSNP rs2288904), resulting in either gln or arg at residue 154, that
was fully concordant with HNA3 status. The 461G variant encodes arg154,
or HNA3a phenotype, whereas the 461A variant encodes gln154, or HNA3b
phenotype. The 461G variant was found in all 6 individuals who developed
TRALI after transfusion of HNA3a-specific alloantibody-containing blood
components. SNP array analysis suggested that approximately 95% of the
European population is either homozygous or heterozygous for 461G and is
therefore at risk for TRALI if transfused with anti-HNA3a-containing
products.
*FIELD* RF
1. Greinacher, A.; Wesche, J.; Hammer, E.; Furll, B.; Volker, U.;
Reil, A.; Bux, J.: Characterization of the human neutrophil alloantigen-3a. Nature
Med. 16: 45-48, 2010.
2. O'Regan, S.; Traiffort, E.; Ruat, M.; Cha, N.; Compaore, D.; Meunier,
F.-M.: An electric lobe suppressor for a yeast choline transport
mutation belongs to a new family of transporter-like proteins. Proc.
Nat. Acad. Sci. 97: 1835-1840, 2000.
*FIELD* CN
Paul J. Converse - updated: 2/4/2010
*FIELD* CD
Paul J. Converse: 7/12/2001
*FIELD* ED
mgross: 02/15/2010
terry: 2/4/2010
mgross: 7/12/2001