ID TMC2_HUMAN STANDARD; PRT; 906 AA. AC Q8TDI7; Q9BYN2; Q9BYN3; Q9BYN4; Q9BYN5; DT 28-FEB-2003 (Rel. 41, Created) DT 15-MAR-2004 (Rel. 43, Last sequence update) DT 15-MAR-2004 (Rel. 43, Last annotation update) DE Transmembrane cochlear-expressed protein 2. GN TMC2. OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; OC Mammalia; Eutheria; Primates; Catarrhini; Hominidae; Homo. OX NCBI_TaxID=9606; RN [1] RP SEQUENCE FROM N.A. RC TISSUE=Brain, Inner ear, and Testis; RX MEDLINE=21918583; PubMed=11850618; RA Kurima K., Peters L.M., Yang Y., Riazuddin S., Ahmed Z.M., Naz S., RA Arnaud D., Drury S., Mo J., Makishima T., Ghosh M., Menon P.S.N., RA Deshmukh D., Oddoux C., Ostrer H., Khan S., Raizuddin S., RA Deininger P.L., Hampton L.L., Sullivan S.L., Battey J.F., RA Keats B.J.B., Wilcox E.R., Friedman T.B., Griffith A.J.; RT "Dominant and recessive deafness caused by mutations of a novel gene, RT TMC1, required for cochlear hair-cell function."; RL Nat. Genet. 30:277-284(2002). RN [2] RP REVISIONS. RA Kurima K., Griffith A.J., Friedman T.B.; RL Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases. RN [3] RP SEQUENCE FROM N.A. RX MEDLINE=21638749; PubMed=11780052; RA Deloukas P., Matthews L.H., Ashurst J., Burton J., Gilbert J.G.R., RA Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., RA Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., RA Beasley O.P., Bird C.P., Blakey S.E., Bridgeman A.M., Brown A.J., RA Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., RA Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., RA Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., RA Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., RA Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., RA Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., RA Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., RA Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., RA Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., RA Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., RA Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., RA Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., RA Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., RA Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., RA Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., RA Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., RA Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., RA Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., RA Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., RA Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., RA Rogers J.; RT "The DNA sequence and comparative analysis of human chromosome 20."; RL Nature 414:865-871(2001). CC -!- FUNCTION: May be required for the normal function of cochlear hair CC cells. CC -!- SUBCELLULAR LOCATION: Integral membrane protein (Potential). CC -!- TISSUE SPECIFICITY: Detected in fetal cochlea. CC -!- SIMILARITY: Belongs to the TMC family. CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF417580; AAL86401.2; -. DR EMBL; AL049712; CAC29096.1; -. DR EMBL; AL049712; CAC29097.1; -. DR EMBL; AL049712; CAC29098.1; -. DR EMBL; AL049712; CAC29099.1; -. DR Genew; HGNC:16527; TMC2. DR MIM; 606707; -. KW Transmembrane. FT DOMAIN 1 263 Cytoplasmic (Potential). FT TRANSMEM 264 284 Potential. FT DOMAIN 285 336 Extracellular (Potential). FT TRANSMEM 337 357 Potential. FT DOMAIN 358 431 Cytoplasmic (Potential). FT TRANSMEM 432 452 Potential. FT DOMAIN 453 508 Extracellular (Potential). FT TRANSMEM 509 529 Potential. FT DOMAIN 530 693 Cytoplasmic (Potential). FT TRANSMEM 694 714 Potential. FT DOMAIN 715 750 Extracellular (Potential). FT TRANSMEM 751 771 Potential. FT DOMAIN 772 906 Cytoplasmic (Potential). FT DOMAIN 6 242 GLU/ASP/LYS/ARG-RICH (HIGHLY CHARGED). SQ SEQUENCE 906 AA; 102581 MW; 792C552E4F2FCA32 CRC64; MSHQVKGLKE EARGGVKGRV KSGSPHTGDR LGRRSSSKRA LKAEGTPGRR GAQRSQKERA GGSPSPGSPR RKQTGRRRHR EELGEQERGE AERTCEGRRK RDERASFQER TAAPKREKEI PRKEEKSKRQ KKPRSSSLAS SASGGESLSE EELAQILEQV EEKKKLIATM RSKPWPMAKK LTELREAQEF VEKYEGALGK GKGKQLYAYK MLMAKKWVKF KRDFDNFKTQ CIPWEMKIKD IESHFGSSVA SYFIFLRWMY GVNLVLFGLI FGLVIIPEVL MGMPYGSIPR KTVPRAEEEK AMDFSVLWDF EGYIKYSALF YGYYNNQRTI GWLRYRLPMA YFMVGVSVFG YSLIIVIRSM ASNTQGSTGE GESDNFTFSF KMFTSWDYLI GNSETADNKY ASITTSFKES IVDEQESNKE ENIHLTRFLR VLANFLIICC LCGSGYLIYF VVKRSQQFSK MQNVSWYERN EVEIVMSLLG MFCPPLFETI AALENYHPRT GLKWQLGRIF ALFLGNLYTF LLALMDDVHL KLANEETIKN ITHWTLFNYY NSSGWNESVP RPPLHPADVP RGSCWETAVG IEFMRLTVSD MLVTYITILL GDFLRACFVR FMNYCWCWDL EAGFPSYAEF DISGNVLGLI FNQGMIWMGS FYAPGLVGIN VLRLLTSMYF QCWAVMSSNV PHERVFKASR SNNFYMGLLL LVLFLSLLPV AYTIMSLPPS FDCGPFSGKN RMYDVLQETI ENDFPTFLGK IFAFLANPGL IIPAILLMFL AIYYLNSVSK SLSRANAQLR KKIQVLREVE KSHKSVKGKA TARDSEDTPK SSSKNATQLQ LTKEETTPPS ASQSQAMDKK AQGPGTSNSA SRTTLPASGH LPISRPPGIG PDSGHAPSQT HPWRSASGKS AQRPPH //