ID   TMC2_HUMAN     STANDARD;      PRT;   906 AA.
AC   Q8TDI7; Q5JXT0; Q5JXT1; Q6UWW4; Q6ZS41; Q8N9F3; Q9BYN2; Q9BYN3;
AC   Q9BYN4; Q9BYN5;
DT   19-OCT-2002, integrated into UniProtKB/Swiss-Prot.
DT   24-OCT-2003, sequence version 2.
DT   18-APR-2006, entry version 25.
DE   Transmembrane cochlear-expressed protein 2.
GN   Name=TMC2; ORFNames=UNQ907/PRO1928;
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] (ISOFORM 1).
RC   TISSUE=Brain, Inner ear, and Testis;
RX   MEDLINE=21918583; PubMed=11850618; DOI=10.1038/ng842;
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 REVISION.
RA   Kurima K., Griffith A.J., Friedman T.B.;
RL   Submitted (MAR-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ARG-123.
RX   MEDLINE=21638749; PubMed=11780052; DOI=10.1038/414865a;
RA   Deloukas P., Matthews L.H., Ashurst J.L., 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).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 4), AND NUCLEOTIDE
RP   SEQUENCE [LARGE SCALE MRNA] OF 427-906 (ISOFORM 3).
RC   TISSUE=Brain;
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 MRNA] OF 693-906 (ISOFORM 4).
RX   MEDLINE=22887296; PubMed=12975309; DOI=10.1101/gr.1293003;
RA   Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA   Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA   Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S.,
RA   Huang A., Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J.,
RA   Lewis L., Liao D., Mark M.R., Robbie E., Sanchez C., Schoenfeld J.,
RA   Seshagiri S., Simmons L., Singh J., Smith V., Stinson J., Vagts A.,
RA   Vandlen R.L., Watanabe C., Wieand D., Woods K., Xie M.-H.,
RA   Yansura D.G., Yi S., Yu G., Yuan J., Zhang M., Zhang Z., Goddard A.D.,
RA   Wood W.I., Godowski P.J., Gray A.M.;
RT   "The secreted protein discovery initiative (SPDI), a large-scale
RT   effort to identify novel human secreted and transmembrane proteins: a
RT   bioinformatics assessment.";
RL   Genome Res. 13:2265-2270(2003).
CC   -!- FUNCTION: May be required for the normal function of cochlear hair
CC       cells.
CC   -!- SUBCELLULAR LOCATION: Membrane; multi-pass membrane protein
CC       (Potential).
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=4;
CC       Name=1;
CC         IsoId=Q8TDI7-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TDI7-2; Sequence=VSP_015280;
CC         Note=Gene prediction based on EST data. No experimental
CC         confirmation available;
CC       Name=3;
CC         IsoId=Q8TDI7-3; Sequence=VSP_015281, VSP_015282;
CC         Note=No experimental confirmation available;
CC       Name=4;
CC         IsoId=Q8TDI7-4; Sequence=VSP_015279, VSP_015283, VSP_015284;
CC         Note=No experimental confirmation available;
CC   -!- TISSUE SPECIFICITY: Detected in fetal cochlea.
CC   -!- SIMILARITY: Belongs to the TMC family.
CC   -!- CAUTION: Ref.3 (CAI22419) sequence differs from that shown due to
CC       erroneous gene model prediction.
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DR   EMBL; AF417580; AAL86401.2; -; mRNA.
DR   EMBL; AL049712; CAI22419.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; AL049712; CAI22420.1; -; Genomic_DNA.
DR   EMBL; AK094789; BAC04423.1; ALT_INIT; mRNA.
DR   EMBL; AK127751; BAC87114.1; -; mRNA.
DR   EMBL; AY358613; AAQ88976.1; ALT_INIT; mRNA.
DR   UniGene; Hs.352626; -.
DR   Ensembl; ENSG00000149488; Homo sapiens.
DR   HGNC; HGNC:16527; TMC2.
DR   MIM; 606707; gene.
DR   InterPro; IPR012496; TMC.
DR   Pfam; PF07810; TMC; 1.
KW   Alternative splicing; Membrane; Polymorphism; Transmembrane.
FT   CHAIN         1    906       Transmembrane cochlear-expressed protein
FT                                2.
FT                                /FTId=PRO_0000185382.
FT   TOPO_DOM      1    263       Cytoplasmic (Potential).
FT   TRANSMEM    264    284       Potential.
FT   TOPO_DOM    285    336       Extracellular (Potential).
FT   TRANSMEM    337    357       Potential.
FT   TOPO_DOM    358    431       Cytoplasmic (Potential).
FT   TRANSMEM    432    452       Potential.
FT   TOPO_DOM    453    508       Extracellular (Potential).
FT   TRANSMEM    509    529       Potential.
FT   TOPO_DOM    530    693       Cytoplasmic (Potential).
FT   TRANSMEM    694    714       Potential.
FT   TOPO_DOM    715    750       Extracellular (Potential).
FT   TRANSMEM    751    771       Potential.
FT   TOPO_DOM    772    906       Cytoplasmic (Potential).
FT   COMPBIAS      6    242       Arg/Asp/Glu/Lys-rich (highly charged).
FT   VARSPLIC      1    644       Missing (in isoform 4).
FT                                /FTId=VSP_015279.
FT   VARSPLIC     12     27       Missing (in isoform 2).
FT                                /FTId=VSP_015280.
FT   VARSPLIC    625    665       PSYAEFDISGNVLGLIFNQGMIWMGSFYAPGLVGINVLRLL
FT                                -> VGHHFMDIPHKGISTIFFDTYSQMHSWAFHFFGSLMTV
FT                                SAL (in isoform 3).
FT                                /FTId=VSP_015281.
FT   VARSPLIC    666    906       Missing (in isoform 3).
FT                                /FTId=VSP_015282.
FT   VARSPLIC    727    806       SGKNRMYDVLQETIENDFPTFLGKIFAFLANPGLIIPAILL
FT                                MFLAIYYLNSVSKSLSRANAQLRKKIQVLREVEKSHKSV
FT                                -> RCRVSVAREHLPSRGSLLRGPRPRIPVLVSCQPVKGHG
FT                                TLGESPMPFKRVFCQDGNVRSFCVCAVHFSSHQPPVAVECL
FT                                K (in isoform 4).
FT                                /FTId=VSP_015283.
FT   VARSPLIC    807    906       Missing (in isoform 4).
FT                                /FTId=VSP_015284.
FT   VARIANT     123    123       K -> R (in dbSNP:6050063).
FT                                /FTId=VAR_023360.
SQ   SEQUENCE   906 AA;  102582 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
//