LOCUS       NM_080751               4999 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens transmembrane channel like 2 (TMC2), mRNA.
ACCESSION   NM_080751
VERSION     NM_080751.3
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4999)
  AUTHORS   Corey,D.P. and Holt,J.R.
  TITLE     Are TMCs the Mechanotransduction Channels of Vertebrate Hair Cells?
  JOURNAL   J Neurosci 36 (43), 10921-10926 (2016)
   PUBMED   27798174
  REMARK    GeneRIF: But the great majority of evidence is consistent with
            these TMCs as pore-forming subunits of the long-sought hair-cell
            transduction channel. [review]
REFERENCE   2  (bases 1 to 4999)
  AUTHORS   Kawashima,Y., Kurima,K., Pan,B., Griffith,A.J. and Holt,J.R.
  TITLE     Transmembrane channel-like (TMC) genes are required for auditory
            and vestibular mechanosensation
  JOURNAL   Pflugers Arch 467 (1), 85-94 (2015)
   PUBMED   25074487
  REMARK    Review article
REFERENCE   3  (bases 1 to 4999)
  AUTHORS   Maeda,R., Kindt,K.S., Mo,W., Morgan,C.P., Erickson,T., Zhao,H.,
            Clemens-Grisham,R., Barr-Gillespie,P.G. and Nicolson,T.
  TITLE     Tip-link protein protocadherin 15 interacts with transmembrane
            channel-like proteins TMC1 and TMC2
  JOURNAL   Proc Natl Acad Sci U S A 111 (35), 12907-12912 (2014)
   PUBMED   25114259
REFERENCE   4  (bases 1 to 4999)
  AUTHORS   Beurg,M., Kim,K.X. and Fettiplace,R.
  TITLE     Conductance and block of hair-cell mechanotransducer channels in
            transmembrane channel-like protein mutants
  JOURNAL   J Gen Physiol 144 (1), 55-69 (2014)
   PUBMED   24981230
REFERENCE   5  (bases 1 to 4999)
  AUTHORS   Holt,J.R., Pan,B., Koussa,M.A. and Asai,Y.
  TITLE     TMC function in hair cell transduction
  JOURNAL   Hear Res 311, 17-24 (2014)
   PUBMED   24423408
  REMARK    Review article
REFERENCE   6  (bases 1 to 4999)
  AUTHORS   Lin,X.
  TITLE     Perception of sound and gravity by TMC1 and TMC2
  JOURNAL   J Clin Invest 121 (12), 4633-4636 (2011)
   PUBMED   22105165
REFERENCE   7  (bases 1 to 4999)
  AUTHORS   Tlili,A., Rebeh,I.B., Aifa-Hmani,M., Dhouib,H., Moalla,J.,
            Tlili-Chouchene,J., Said,M.B., Lahmar,I., Benzina,Z.,
            Charfedine,I., Driss,N., Ghorbel,A., Ayadi,H. and Masmoudi,S.
  TITLE     TMC1 but not TMC2 is responsible for autosomal recessive
            nonsyndromic hearing impairment in Tunisian families
  JOURNAL   Audiol Neurootol 13 (4), 213-218 (2008)
   PUBMED   18259073
  REMARK    GeneRIF: Autozygosity by descent analysis of 2 markers bordering
            the TMC2 gene allowed us to rule out its association with deafness
            within these families.
REFERENCE   8  (bases 1 to 4999)
  AUTHORS   Kurima,K., Yang,Y., Sorber,K. and Griffith,A.J.
  TITLE     Characterization of the transmembrane channel-like (TMC) gene
            family: functional clues from hearing loss and epidermodysplasia
            verruciformis
  JOURNAL   Genomics 82 (3), 300-308 (2003)
   PUBMED   12906855
REFERENCE   9  (bases 1 to 4999)
  AUTHORS   Keresztes,G., Mutai,H. and Heller,S.
  TITLE     TMC and EVER genes belong to a larger novel family, the TMC gene
            family encoding transmembrane proteins
  JOURNAL   BMC Genomics 4 (1), 24 (2003)
   PUBMED   12812529
REFERENCE   10 (bases 1 to 4999)
  AUTHORS   Kurima,K., Peters,L.M., Yang,Y., Riazuddin,S., Ahmed,Z.M., Naz,S.,
            Arnaud,D., Drury,S., Mo,J., Makishima,T., Ghosh,M., Menon,P.S.,
            Deshmukh,D., Oddoux,C., Ostrer,H., Khan,S., Riazuddin,S.,
            Deininger,P.L., Hampton,L.L., Sullivan,S.L., Battey,J.F. Jr.,
            Keats,B.J., Wilcox,E.R., Friedman,T.B. and Griffith,A.J.
  TITLE     Dominant and recessive deafness caused by mutations of a novel
            gene, TMC1, required for cochlear hair-cell function
  JOURNAL   Nat Genet 30 (3), 277-284 (2002)
   PUBMED   11850618
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL049712.12.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 10, 2020 this sequence version replaced NM_080751.2.
            
            Summary: This gene encodes a transmembrane protein that is
            necesssary for mechanotransduction in cochlear hair cells of the
            inner ear. Mutations in this gene may underlie hereditary disorders
            of balance and hearing. [provided by RefSeq, Aug 2015].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF417580.2 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000358864.2/ ENSP00000351732.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-83                AL049712.12        135294-135376       c
            84-131              AL049712.12        134633-134680       c
            132-450             AL049712.12        113175-113493       c
            451-603             AL049712.12        109939-110091       c
            604-694             AL049712.12        99680-99770         c
            695-776             AL049712.12        92722-92803         c
            777-883             AL049712.12        91893-91999         c
            884-982             AL049712.12        79541-79639         c
            983-1125            AL049712.12        76982-77124         c
            1126-1273           AL049712.12        74651-74798         c
            1274-1462           AL049712.12        69648-69836         c
            1463-1642           AL049712.12        61351-61530         c
            1643-1792           AL049712.12        59609-59758         c
            1793-1921           AL049712.12        58627-58755         c
            1922-1989           AL049712.12        55745-55812         c
            1990-2229           AL049712.12        54638-54877         c
            2230-2355           AL049712.12        47553-47678         c
            2356-2434           AL049712.12        35945-36023         c
            2435-2552           AL049712.12        34358-34475         c
            2553-4999           AL049712.12        28369-30815         c
FEATURES             Location/Qualifiers
     source          1..4999
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="20"
                     /map="20p13"
     gene            1..4999
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /note="transmembrane channel like 2"
                     /db_xref="GeneID:117532"
                     /db_xref="HGNC:HGNC:16527"
                     /db_xref="MIM:606707"
     exon            1..83
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     CDS             50..2770
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /note="transmembrane cochlear-expressed protein 2;
                     transmembrane cochlear-expressed gene 2"
                     /codon_start=1
                     /product="transmembrane channel-like protein 2"
                     /protein_id="NP_542789.2"
                     /db_xref="CCDS:CCDS13029.2"
                     /db_xref="GeneID:117532"
                     /db_xref="HGNC:HGNC:16527"
                     /db_xref="MIM:606707"
                     /translation="MSHQVKGLKEEARGGVKGRVKSGSPHTGDRLGRRSSSKRALKAE
                     GTPGRRGAQRSQKERAGGSPSPGSPRRKQTGRRRHREELGEQERGEAERTCEGRRKRD
                     ERASFQERTAAPKREKEIPRREEKSKRQKKPRSSSLASSASGGESLSEEELAQILEQV
                     EEKKKLIATMRSKPWPMAKKLTELREAQEFVEKYEGALGKGKGKQLYAYKMLMAKKWV
                     KFKRDFDNFKTQCIPWEMKIKDIESHFGSSVASYFIFLRWMYGVNLVLFGLIFGLVII
                     PEVLMGMPYGSIPRKTVPRAEEEKAMDFSVLWDFEGYIKYSALFYGYYNNQRTIGWLR
                     YRLPMAYFMVGVSVFGYSLIIVIRSMASNTQGSTGEGESDNFTFSFKMFTSWDYLIGN
                     SETADNKYASITTSFKESIVDEQESNKEENIHLTRFLRVLANFLIICCLCGSGYLIYF
                     VVKRSQQFSKMQNVSWYERNEVEIVMSLLGMFCPPLFETIAALENYHPRTGLKWQLGR
                     IFALFLGNLYTFLLALMDDVHLKLANEETIKNITHWTLFNYYNSSGWNESVPRPPLHP
                     ADVPRGSCWETAVGIEFMRLTVSDMLVTYITILLGDFLRACFVRFMNYCWCWDLEAGF
                     PSYAEFDISGNVLGLIFNQGMIWMGSFYAPGLVGINVLRLLTSMYFQCWAVMSSNVPH
                     ERVFKASRSNNFYMGLLLLVLFLSLLPVAYTIMSLPPSFDCGPFSGKNRMYDVLQETI
                     ENDFPTFLGKIFAFLANPGLIIPAILLMFLAIYYLNSVSKSLSRANAQLRKKIQVLRE
                     VEKSHKSVKGKATARDSEDTPKSSSKNATQLQLTKEETTPPSASQSQAMDKKAQGPGT
                     SNSASRTTLPASGHLPISRPPGIGPDSGHAPSQTHPWRSASGKSAQRPPH"
     exon            84..131
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            132..450
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            451..603
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            604..694
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            695..776
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            777..883
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            884..982
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            983..1125
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1126..1273
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1274..1462
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1463..1642
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1643..1792
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1793..1921
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1922..1989
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            1990..2229
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            2230..2355
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            2356..2434
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            2435..2552
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     exon            2553..4999
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4976..4981
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /note="hexamer: AATAAA"
     polyA_site      4999
                     /gene="TMC2"
                     /gene_synonym="C20orf145"
                     /note="major polyA site"
ORIGIN      
        1 aggagcacgc tgcgtgagcc tgtgcaggac cccagcagtg ctgctgacca tgagccacca
       61 ggtaaagggc ctgaaagagg aagcacgagg cggagtgaaa gggcgggtga agagcggctc
      121 tccacacaca ggtgacaggc tgggaaggag atcctcaagc aagcgggctc tcaaagccga
      181 ggggacccca ggcaggcgcg gagctcagcg aagccagaag gagcgcgccg ggggcagccc
      241 aagcccgggg tctccccgga ggaagcaaac agggcgcagg agacacagag aagagctggg
      301 ggagcaggag cggggcgagg cagagaggac ctgcgagggc aggagaaagc gcgacgagag
      361 ggcctccttc caggagcgga cagcagcccc aaagagggaa aaggagattc cgaggaggga
      421 ggagaagtcg aagcggcaga agaaacccag gtcatcctcc ttggcctcca gtgcctctgg
      481 tggggagtcc ctgtccgagg aggaactggc ccagatcctg gagcaggtgg aagaaaaaaa
      541 gaagctcatt gccaccatgc ggagcaagcc ctggcccatg gcgaagaagc tgacagagct
      601 cagggaggcc caggaatttg tggagaagta tgaaggtgcc ttgggaaagg ggaaaggcaa
      661 gcaactatat gcctacaaga tgctgatggc caagaaatgg gtcaaattta agagagactt
      721 tgataatttc aagactcaat gtatcccctg ggaaatgaag atcaaggaca ttgaaagtca
      781 ctttggttct tcagtggcat cgtatttcat ctttctccga tggatgtatg gagttaacct
      841 tgtccttttt ggcttaatat ttggtctagt cataatccca gaggtactga tgggcatgcc
      901 ctatgggagt attcccagaa agacagtgcc tcgggctgag gaagaaaagg ccatggattt
      961 ttctgtcctt tgggattttg agggctatat caagtactct gcactcttct atggctacta
     1021 caacaaccag aggaccatcg ggtggctgag gtaccggctg cctatggctt actttatggt
     1081 gggggtcagc gtgttcggct acagcctgat tattgtcatt cgatcgatgg ccagcaatac
     1141 ccaaggaagc acaggcgaag gggagagtga caacttcaca ttcagcttca agatgttcac
     1201 cagctgggac tacctgatcg ggaattcaga gacagctgat aacaaatatg catccatcac
     1261 caccagcttc aaggaatcaa tagtggatga acaagagagt aacaaagaag aaaatatcca
     1321 tctgacaaga tttcttcgtg tcctggccaa ctttctcatc atctgctgtt tgtgtggaag
     1381 tgggtacctc atttactttg tggttaagcg atctcagcaa ttctccaaaa tgcagaatgt
     1441 cagctggtat gaaaggaatg aggtagagat cgtgatgtcc ctgcttggaa tgttttgtcc
     1501 ccctctgttt gaaaccatcg ctgccctgga gaattaccac ccacgcactg gactgaagtg
     1561 gcagctggga cgcatctttg cactcttcct ggggaacctc tacacatttc tcttggccct
     1621 gatggatgac gtccacctca agcttgctaa tgaagagaca ataaagaaca tcactcactg
     1681 gactctgttt aactattaca actcttctgg ttggaacgag agtgtccccc gaccacccct
     1741 gcaccctgca gatgtgcccc ggggttcttg ctgggagaca gctgtgggca ttgaattcat
     1801 gaggctgacg gtgtctgaca tgctggtaac gtacatcacc atcctgctgg gggacttcct
     1861 acgggcttgt tttgtgcggt tcatgaacta ctgctggtgc tgggacttgg aggctggatt
     1921 tccttcatat gctgagtttg atattagtgg aaatgtgctg ggtttgatct tcaaccaagg
     1981 aatgatctgg atgggctcct tctatgctcc aggcctggtg ggcattaatg tgctgcgcct
     2041 gctgacctcc atgtacttcc agtgctgggc ggtgatgagc agcaacgtac cccatgaacg
     2101 cgtgttcaaa gcctcccgat ccaacaactt ctacatgggc ctcctgctgc tggtgctctt
     2161 cctcagcctc ctgccggtgg cctacaccat catgtccctc ccaccctcct ttgactgcgg
     2221 gccgttcagt gggaaaaaca gaatgtacga tgtcctccaa gagaccattg aaaacgattt
     2281 cccaaccttc ctgggcaaga tctttgcttt cctcgccaat ccaggcctga tcatcccagc
     2341 catcctgctg atgttcttgg ccatttacta cctgaactca gtttccaaaa gcctttcccg
     2401 agctaatgcc cagctgagga agaaaatcca agtgctccgt gaagttgaga agagtcacaa
     2461 atctgtaaaa ggcaaagcca cagccagaga ttcagaggac acacctaaaa gcagctccaa
     2521 aaatgccacc cagctccaac tcaccaagga agagaccact cctccctctg ccagccaaag
     2581 ccaggccatg gacaagaagg cgcagggccc tgggacctcc aattctgcca gcaggaccac
     2641 actgcctgcc tctggacacc ttcctatatc tcggccccct ggaatcggac cagattctgg
     2701 ccacgcccca tctcagactc atccgtggag gtcagcctct ggaaagagtg ctcagagacc
     2761 tccccactga tggctaggac tccagggagc ctcgacccta gggctgatcc tcaagtaccc
     2821 cagtttcaca cataccaaac caaggttctc tcccctcttt cctctcacat acatgctctg
     2881 tctcctctct tggaatgcat gaactttgat tccttcaggc ccttgtcagc taccgaagga
     2941 ggaagacagt ggcttcacct gtcctttagg gaagctggag ccatctctgc actaactgcc
     3001 ctcccaaata tcttggttca gacagctctg aaccccacgc tcacagtggt cgaccttgcc
     3061 tcccgatttt cggagttggg gaagggccat gaccaccctc gtagactttt tccatgggat
     3121 acagtttagg acacgggttt ctgccagctt ccctaaccag gagggggatg gagaagggcc
     3181 tacatttctc aatccagagg aagtgagctg gtttaaatga aaggtccagg ccaggcacag
     3241 tggctcacac ctgtagtccc agcactttgg gagaccaagg tgggtggatc gcttgagccc
     3301 aggagttcaa gaccagcccg ggcaatgtgg cgaaacccca tccctacaaa aaaattagct
     3361 aggcatggtg gtatgcacct gtaatcccag ctacttggga ggctgaggca gaaggatcac
     3421 ttgagcccag gaggcagagg ttgcagttag ctaagatcac gtcactgcac tccagtctgg
     3481 gcaacagagt gagacgctgt cttaacaaca acaagtctgg ccaggagtgg tggctcacac
     3541 ctgtaatccc aacactttaa gaggctgaag tgggaggcca ggggtttcag atgagcctga
     3601 gcaacagagc aagacccttg tctctacaaa tagataaatg aatcaaagta aatgaaagtg
     3661 aatgaaaata aaggtaaatg gaccaaagac cagtcatgga gagtggggat tggtgggaag
     3721 actggtgata ccccagtacc cagcccaagg gaagcttaca ccatggagca caaaacaggg
     3781 agtgaaaaca gtgaatcaca ggagcgagtg agttgcccag tgcctcttat cttggaagga
     3841 aacctgcctt acccagggca gaaaaatctt tttcatgcac caaattctaa aaggaatttg
     3901 ataacatgat tattgtacaa aagaccttga agatggtttc tctgaagagt tttgcaaaag
     3961 gtacaatgca gagcgttgtc tctggggatt ctatgttcac ttagtgtcat atcatggttc
     4021 tatgcagaat atttcttagg gggaagaagc caggggccag accattaaga aggccttgat
     4081 ggcaagggca gagcctaggt agggtgggag tcacagtcca ggactctgca acagcccagc
     4141 tatcttgcac acagctcctt cctttcctcc actctgtgct cccagaccca ggtaagcagt
     4201 gaggcctcag agggccccag agaccctctc acccatgtct ctgagtgttc taaagagagt
     4261 cagccacctt aacctcatca actgttacag ccaccaccca accaggcccc caggggttct
     4321 caggagaatc ccccagactc agaaagtcag gcaaagccct ggcagagaga cgaagatttt
     4381 tacagcaatt tcataagctg tacaattaaa ataatttcta acttccctcc caaatccctt
     4441 cccttctcaa tccagcacca aaacttcaca tatatataca aactgcaatg gaataatagg
     4501 gacatgtgac caggagaaac aggataaatt atttcacacc aatctctcct ggcaaggcta
     4561 acgaagatgt tgcaatgcct gatttccatg gaacccaggt ccaagcccca aatccaaaac
     4621 tgcctgtgtg tcatatgcct tcccccaagc taacctacct gaaacctcag tacagggatc
     4681 ctggcactgt aacccaacca atcaggacca gaaggcccaa agatggccac cacaccaaca
     4741 cctggccttc tgcatcagaa tgccaggccc tgaggcaggg aacactctgc ctgcctgagc
     4801 cattggtccc ctagtgatta ctgtcaggcc tccactggtt actaatacac ataaataccc
     4861 accacaaaca caaaccaacc atcctgatct gatgaagtgt aattttatgt gacggaatgt
     4921 atatgtcatc taatgctgca taacaaatta ttcccaaaac ataacagcct aaaacaataa
     4981 acaattatgt attattgta
//
