ID   TMC2_HUMAN     STANDARD;      PRT;   890 AA.
AC   Q8TDI7; Q9BYN2; Q9BYN3; Q9BYN4; Q9BYN5;
DT   15-JUN-2002 (Rel. 41, Created)
DT   15-JUN-2002 (Rel. 41, Last sequence update)
DT   15-JUN-2002 (Rel. 41, 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   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   Lehvaslaiho 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.
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DR   EMBL; AF417580; AAL86401.1; -.
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    247       CYTOPLASMIC (POTENTIAL).
FT   TRANSMEM    248    268       POTENTIAL.
FT   DOMAIN      269    320       EXTRACELLULAR (POTENTIAL).
FT   TRANSMEM    321    341       POTENTIAL.
FT   DOMAIN      342    415       CYTOPLASMIC (POTENTIAL).
FT   TRANSMEM    416    436       POTENTIAL.
FT   DOMAIN      437    492       EXTRACELLULAR (POTENTIAL).
FT   TRANSMEM    493    513       POTENTIAL.
FT   DOMAIN      514    677       CYTOPLASMIC (POTENTIAL).
FT   TRANSMEM    678    698       POTENTIAL.
FT   DOMAIN      699    734       EXTRACELLULAR (POTENTIAL).
FT   TRANSMEM    735    755       POTENTIAL.
FT   DOMAIN      756    890       CYTOPLASMIC (POTENTIAL).
FT   DOMAIN        6    226       GLU/ASP/LYS/ARG-RICH (HIGHLY CHARGED).
SQ   SEQUENCE   890 AA;  101006 MW;  A35AE2216B2AC0C4 CRC64;
     MSHQVKGLKE EGDRLGRRSS SKRALKAEGT PGRRGAQRSQ KERAGGSPSP GSPRRKQTGR
     RRHREELGEQ ERGEAERTCE GRRKRDERAS FQERTAAPKR EKEIPRKEEK SKRQKKPRSS
     SLASSASGGE SLSEEELAQI LEQVEEKKKL IATMRSKPWP MAKKLTELRE AQEFVEKYEG
     ALGKGKGKQL YAYKMLMAKK WVKFKRDFDN FKTQCIPWEM KIKDIESHFG SSVASYFIFL
     RWMYGVNLVL FGLIFGLVII PEVLMGMPYG SIPRKTVPRA EEEKAMDFSV LWDFEGYIKY
     SALFYGYYNN QRTIGWLRYR LPMAYFMVGV SVFGYSLIIV IRSMASNTQG STGEGESDNF
     TFSFKMFTSW DYLIGNSETA DNKYASITTS FKESIVDEQE SNKEENIHLT RFLRVLANFL
     IICCLCGSGY LIYFVVKRSQ QFSKMQNVSW YERNEVEIVM SLLGMFCPPL FETIAALENY
     HPRTGLKWQL GRIFALFLGN LYTFLLALMD DVHLKLANEE TIKNITHWTL FNYYNSSGWN
     ESVPRPPLHP ADVPRGSCWE TAVGIEFMRL TVSDMLVTYI TILLGDFLRA CFVRFMNYCW
     CWDLEAGFPS YAEFDISGNV LGLIFNQGMI WMGSFYAPGL VGINVLRLLT SMYFQCWAVM
     SSNVPHERVF KASRSNNFYM GLLLLVLFLS LLPVAYTIMS LPPSFDCGPF SGKNRMYDVL
     QETIENDFPT FLGKIFAFLA NPGLIIPAIL LMFLAIYYLN SVSKSLSRAN AQLRKKIQVL
     REVEKSHKSV KGKATARDSE DTPKSSSKNA TQLQLTKEET TPPSASQSQA MDKKAQGPGT
     SNSASRTTLP ASGHLPISRP PGIGPDSGHA PSQTHPWRSA SGKSAQRPPH
//