LOCUS       NM_144686               2362 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens transmembrane channel like 4 (TMC4), transcript
            variant 2, mRNA.
ACCESSION   NM_144686
VERSION     NM_144686.4
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 2362)
  AUTHORS   Kasahara,Y., Narukawa,M., Kanda,S., Tominaga,M., Abe,K., Misaka,T.
            and Asakura,T.
  TITLE     Transmembrane channel-like 4 is involved in pH and
            temperature-dependent modulation of salty taste
  JOURNAL   Biosci Biotechnol Biochem 85 (11), 2295-2299 (2021)
   PUBMED   34468713
REFERENCE   2  (bases 1 to 2362)
  AUTHORS   Kasahara,Y., Narukawa,M., Ishimaru,Y., Kanda,S., Umatani,C.,
            Takayama,Y., Tominaga,M., Oka,Y., Kondo,K., Kondo,T., Takeuchi,A.,
            Misaka,T., Abe,K. and Asakura,T.
  TITLE     TMC4 is a novel chloride channel involved in high-concentration
            salt taste sensation
  JOURNAL   J Physiol Sci 71 (1), 23 (2021)
   PUBMED   34429071
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2362)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   4  (bases 1 to 2362)
  AUTHORS   Sookoian,S., Flichman,D., Garaycoechea,M.E., Gazzi,C.,
            Martino,J.S., Castano,G.O. and Pirola,C.J.
  TITLE     Lack of evidence supporting a role of TMC4-rs641738 missense
            variant-MBOAT7- intergenic downstream variant-in the Susceptibility
            to Nonalcoholic Fatty Liver Disease
  JOURNAL   Sci Rep 8 (1), 5097 (2018)
   PUBMED   29572551
  REMARK    GeneRIF: This study explored the role of rs641738 C/T located in
            TMC4 exon 1 (p.Gly17Glu) and 500 bases- downstream of MBOAT7 gene
            (TMC4/MBOAT7), in the genetic risk for developing nonalcoholic
            fatty liver disease (NAFLD). No evidence was found of association
            between rs641738 and either NAFLD (Cochran-Armitage test for trend,
            p = 0.529) or the disease severity (p = 0.61).
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2362)
  AUTHORS   Mancina,R.M., Dongiovanni,P., Petta,S., Pingitore,P., Meroni,M.,
            Rametta,R., Boren,J., Montalcini,T., Pujia,A., Wiklund,O.,
            Hindy,G., Spagnuolo,R., Motta,B.M., Pipitone,R.M., Craxi,A.,
            Fargion,S., Nobili,V., Kakela,P., Karja,V., Mannisto,V.,
            Pihlajamaki,J., Reilly,D.F., Castro-Perez,J., Kozlitina,J.,
            Valenti,L. and Romeo,S.
  TITLE     The MBOAT7-TMC4 Variant rs641738 Increases Risk of Nonalcoholic
            Fatty Liver Disease in Individuals of European Descent
  JOURNAL   Gastroenterology 150 (5), 1219-1230 (2016)
   PUBMED   26850495
  REMARK    GeneRIF: Report no association between the TMC4 rs641738 variant
            and the development and severity of NAFLD in individuals of
            European descent.
REFERENCE   6  (bases 1 to 2362)
  AUTHORS   Shin,S.Y., Fauman,E.B., Petersen,A.K., Krumsiek,J., Santos,R.,
            Huang,J., Arnold,M., Erte,I., Forgetta,V., Yang,T.P., Walter,K.,
            Menni,C., Chen,L., Vasquez,L., Valdes,A.M., Hyde,C.L., Wang,V.,
            Ziemek,D., Roberts,P., Xi,L., Grundberg,E., Waldenberger,M.,
            Richards,J.B., Mohney,R.P., Milburn,M.V., John,S.L., Trimmer,J.,
            Theis,F.J., Overington,J.P., Suhre,K., Brosnan,M.J., Gieger,C.,
            Kastenmuller,G., Spector,T.D. and Soranzo,N.
  CONSRTM   Multiple Tissue Human Expression Resource (MuTHER) Consortium
  TITLE     An atlas of genetic influences on human blood metabolites
  JOURNAL   Nat Genet 46 (6), 543-550 (2014)
   PUBMED   24816252
REFERENCE   7  (bases 1 to 2362)
  AUTHORS   Denoeud,F., Kapranov,P., Ucla,C., Frankish,A., Castelo,R.,
            Drenkow,J., Lagarde,J., Alioto,T., Manzano,C., Chrast,J., Dike,S.,
            Wyss,C., Henrichsen,C.N., Holroyd,N., Dickson,M.C., Taylor,R.,
            Hance,Z., Foissac,S., Myers,R.M., Rogers,J., Hubbard,T., Harrow,J.,
            Guigo,R., Gingeras,T.R., Antonarakis,S.E. and Reymond,A.
  TITLE     Prominent use of distal 5' transcription start sites and discovery
            of a large number of additional exons in ENCODE regions
  JOURNAL   Genome Res 17 (6), 746-759 (2007)
   PUBMED   17567994
REFERENCE   8  (bases 1 to 2362)
  AUTHORS   Oh,J.H., Yang,J.O., Hahn,Y., Kim,M.R., Byun,S.S., Jeon,Y.J.,
            Kim,J.M., Song,K.S., Noh,S.M., Kim,S., Yoo,H.S., Kim,Y.S. and
            Kim,N.S.
  TITLE     Transcriptome analysis of human gastric cancer
  JOURNAL   Mamm Genome 16 (12), 942-954 (2005)
   PUBMED   16341674
REFERENCE   9  (bases 1 to 2362)
  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   10 (bases 1 to 2362)
  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
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AY236492.1, BQ082417.1, BC025323.1, AC245052.3, BU680152.1 and
            AA578987.1.
            
            On Jun 2, 2019 this sequence version replaced NM_144686.3.
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            segment in the 5' coding region compared to variant 1. The
            resulting isoform (2) is shorter but has the same N- and C-termini
            compared to isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC025323.1, AK314973.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000619895.5/ ENSP00000479458.1
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-40                AY236492.1         91-130
            41-93               BQ082417.1         41-93
            94-1596             BC025323.1         91-1593
            1597-1597           AC245052.3         90774-90774         c
            1598-1948           AY236492.1         1705-2055
            1949-2361           BU680152.1         168-580
            2362-2362           AA578987.1         26-26               c
FEATURES             Location/Qualifiers
     source          1..2362
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="19"
                     /map="19q13.42"
     gene            1..2362
                     /gene="TMC4"
                     /note="transmembrane channel like 4"
                     /db_xref="GeneID:147798"
                     /db_xref="HGNC:HGNC:22998"
                     /db_xref="MIM:617181"
     exon            1..122
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     CDS             44..2164
                     /gene="TMC4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     transmembrane channel-like protein 4; testicular tissue
                     protein Li 204; voltage-gated chloride channel TMC4"
                     /codon_start=1
                     /product="voltage-gated chloride channel TMC4 isoform 2"
                     /protein_id="NP_653287.2"
                     /db_xref="CCDS:CCDS12882.1"
                     /db_xref="GeneID:147798"
                     /db_xref="HGNC:HGNC:22998"
                     /db_xref="MIM:617181"
                     /translation="MEENPTLESEAWGSSREWLAPREARGGPSLSSVLNELPSAATLR
                     YRDPGVLPWGALEEEEEDGGRSRKAFTEVTQTELQDPHPSRELPWPMQARRAHRQRNA
                     SRDQVVYGSGTKTDRWARLLRRSKEKTKEGLRSLQPWAWTLKRIGGQFGAGTESYFSL
                     LRFLLLLNVLASVLMACMTLLPTWLGGAPPGPPGPDISSPCGSYNPHSQGLVTFATQL
                     FNLLSGEGYLEWSPLFYGFYPPRPRLAVTYLCWAFAVGLICLLLILHRSVSGLKQTLL
                     AESEALTSYSHRVFSAWDFGLCGDVHVRLRQRIILYELKVELEETVVRRQAAVRTLGQ
                     QARVWLVRVLLNLLVVALLGAAFYGVYWATGCTVELQEMPLVQELPLLKLGVNYLPSI
                     FIAGVNFVLPPVFKLIAPLEGYTRSRQIVFILLRTVFLRLASLVVLLFSLWNQITCGG
                     DSEAEDCKTCGYNYKQLPCWETVLGQEMYKLLLFDLLTVLAVALLIQFPRKLLCGLCP
                     GALGRLAGTQEFQVPDEVLGLIYAQTVVWVGSFFCPLLPLLNTVKFLLLFYLKKLTLF
                     STCSPAARTFRASAANFFFPLVLLLGLAISSVPLLYSIFLIPPSKLCGPFRGQSSIWA
                     QIPESISSLPETTQNFLFFLGTQAFAVPLLLISSILMAYTVALANSYGRLISELKRQR
                     ETEAQNKVFLARRAVALTSTKPAL"
     exon            123..336
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            337..485
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            486..718
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            719..840
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            841..988
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            989..1156
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1157..1320
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1321..1447
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1448..1545
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1546..1729
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1730..1860
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            1861..2016
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            2017..2095
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     exon            2096..2362
                     /gene="TMC4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2339..2344
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMC4"
                     /note="hexamer: AATAAA"
     polyA_site      2362
                     /gene="TMC4"
                     /note="major polyA site"
ORIGIN      
        1 agtgtctgcc tggtggccac tagagacagc ccagcctggg gccatggaag aaaacccgac
       61 cttggaatca gaagcctggg gctcctctag ggagtggctg gccccccggg aggccagagg
      121 aggcccatcg ctgtcttctg tgctgaacga gctgcccagt gctgccaccc ttcggtaccg
      181 agaccctggg gtgctgcctt ggggggcgct ggaggaggag gaggaggatg gaggaaggag
      241 cagaaaggcc ttcacagaag tcacccagac agagctgcag gaccctcacc cttcccggga
      301 actgccctgg cccatgcagg ccagacgggc acacaggcaa agaaatgcca gcagggacca
      361 ggtggtctat ggctctggaa ctaagacgga ccgatgggcg cggctacttc ggaggtccaa
      421 ggagaaaaca aaggaaggct tgcgaagcct gcagccctgg gcgtggacac tgaagaggat
      481 cgggggccag tttggcgccg gcacggagtc ctacttctcc ctgctgcgct tcctgctcct
      541 tcttaacgtg ctggcctctg tgctcatggc ctgcatgacg ctgctgccca cctggttggg
      601 aggcgctccc ccaggccctc ccggccccga catctcctcg ccctgcggct cctataaccc
      661 ccactcccag ggcctggtca cctttgccac ccagctcttc aacttgctct cgggtgaggg
      721 ttacctggaa tggtcccctc tcttctatgg cttctacccg ccccgcccac gcctggcggt
      781 cacctacctg tgctgggcct ttgccgttgg cctcatctgc ctcctgctca tcctgcatcg
      841 ctcggtgtct gggctgaagc agacactgct ggcggagtcc gaggctctga ccagctacag
      901 ccaccgggtg ttctcggcct gggacttcgg tctctgcggg gacgtccacg tgcggctgcg
      961 ccagcgcatc atcttgtacg aattaaaggt ggagctggag gagacagtgg tgcggcgcca
     1021 ggctgcggtg cggacgctgg gccagcaagc cagggtttgg ttggtgcggg tgctgctcaa
     1081 cctgctggtg gtcgcgctcc tgggggcagc cttctatggc gtctactggg ctacggggtg
     1141 caccgtggag ctgcaggaga tgccccttgt ccaggagttg ccactgctga agcttggggt
     1201 gaattacctt ccgtccatct tcatcgctgg ggtcaatttt gtgctgccgc ccgtgttcaa
     1261 gctcattgct ccactggagg gctacactcg gagtcgccag atcgttttta tcctgctcag
     1321 gaccgtgttt cttcgcctcg cctccctggt ggtcctgctc ttctctctct ggaatcagat
     1381 cacttgtggg ggcgactccg aggctgagga ctgcaaaacc tgtggctaca attacaaaca
     1441 acttccgtgc tgggagactg tcctgggcca ggaaatgtac aaacttctgc tctttgatct
     1501 gctgactgtc ttggcagtcg cgctgctcat ccagtttcct agaaagctcc tctgtggcct
     1561 ctgtcctggg gcgctgggtc gtctggcggg gacccaagag ttccaggtgc ccgacgaggt
     1621 gctggggctc atctacgcgc agacggtggt ctgggtgggg agttttttct gccctttact
     1681 gcccctgctt aacacggtca agttcctgct gcttttctac ctgaagaagc ttaccctctt
     1741 ctccacctgc tccccggctg cccgcacctt ccgggcctcc gcggcgaatt tctttttccc
     1801 cttggtcctt ctcctgggtc tggccatctc cagcgttccc ctgctttaca gcatcttcct
     1861 gatcccgcct tctaagctgt gtggtccatt ccgggggcag tcgtccatct gggcccagat
     1921 ccctgagtct atttccagcc tccctgagac cacccagaat ttcctcttct tcctggggac
     1981 ccaggctttt gctgtgcccc ttctgctgat ctccagcatc ctgatggcgt acactgtggc
     2041 tctggctaac tcctacggac gcctcatctc tgagctcaaa cgtcagagag agacggaggc
     2101 gcagaataaa gtcttcctgg cacggcgcgc tgtggcgctg acctccacca aaccggctct
     2161 ttgacccccg cagcccacgt cccgctttca gaccccaggc ccattgtaag cctaggtcac
     2221 aacatctgta aactaggaga actggagaag actccacgcc cttccagctt tggtatctgg
     2281 agatttccag ggcccctcgc cgccacgtcc ctgactctcg ggtgatcttc cttgtatcaa
     2341 taaatacagc cgaggttgct ga
//
