LOCUS       NM_152468               4426 bp    mRNA    linear   PRI 05-OCT-2024
DEFINITION  Homo sapiens transmembrane channel like 8 (TMC8), mRNA.
ACCESSION   NM_152468
VERSION     NM_152468.5
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 4426)
  AUTHORS   Ura,H., Togi,S., Hatanaka,H. and Niida,Y.
  TITLE     Establishment of a human induced pluripotent stem cell line,
            KMUGMCi005-A, from a patient with Epidermodysplasia verruciformis
            (EV) bearing homozygous splicing donor site mutation in the TMC8
            gene
  JOURNAL   Stem Cell Res 64, 102926 (2022)
   PUBMED   36170758
  REMARK    GeneRIF: Establishment of a human induced pluripotent stem cell
            line, KMUGMCi005-A, from a patient with Epidermodysplasia
            verruciformis (EV) bearing homozygous splicing donor site mutation
            in the TMC8 gene.
REFERENCE   2  (bases 1 to 4426)
  AUTHORS   Ushida,M., Arita,T., Matsui,M., Kanehisa,F., Komori,S., Katoh,N.,
            Konishi,E., Shimizu,A., Nakano,H. and Asai,J.
  TITLE     Case of epidermodysplasia verruciformis with a novel mutation of
            TMC8
  JOURNAL   J Dermatol 48 (11), e568-e569 (2021)
   PUBMED   34459021
  REMARK    GeneRIF: Case of epidermodysplasia verruciformis with a novel
            mutation of TMC8.
REFERENCE   3  (bases 1 to 4426)
  AUTHORS   Wu,C.J., Li,X., Sommers,C.L., Kurima,K., Huh,S., Bugos,G., Dong,L.,
            Li,W., Griffith,A.J. and Samelson,L.E.
  TITLE     Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in
            lymphocytes is regulated by each of the components
  JOURNAL   J Biol Chem 295 (47), 16086-16099 (2020)
   PUBMED   32917726
  REMARK    GeneRIF: Expression of a TMC6-TMC8-CIB1 heterotrimeric complex in
            lymphocytes is regulated by each of the components.
REFERENCE   4  (bases 1 to 4426)
  AUTHORS   de Jong,S.J., Crequer,A., Matos,I., Hum,D., Gunasekharan,V.,
            Lorenzo,L., Jabot-Hanin,F., Imahorn,E., Arias,A.A., Vahidnezhad,H.,
            Youssefian,L., Markle,J.G., Patin,E., D'Amico,A., Wang,C.Q.F.,
            Full,F., Ensser,A., Leisner,T.M., Parise,L.V., Bouaziz,M.,
            Maya,N.P., Cadena,X.R., Saka,B., Saeidian,A.H., Aghazadeh,N.,
            Zeinali,S., Itin,P., Krueger,J.G., Laimins,L., Abel,L., Fuchs,E.,
            Uitto,J., Franco,J.L., Burger,B., Orth,G., Jouanguy,E. and
            Casanova,J.L.
  TITLE     The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic
            immunity to beta-papillomaviruses
  JOURNAL   J Exp Med 215 (9), 2289-2310 (2018)
   PUBMED   30068544
  REMARK    GeneRIF: these findings suggest that the disruption of
            CIB1-EVER1-EVER2-dependent keratinocyte-intrinsic immunity
            underlies the selective susceptibility to beta-HPVs of
            epidermodysplasia verruciformis patients.
REFERENCE   5  (bases 1 to 4426)
  AUTHORS   Imahorn,E., Yuksel,Z., Spoerri,I., Gurel,G., Imhof,C.,
            Saracoglu,Z.N., Koku Aksu,A.E., Rady,P.L., Tyring,S.K., Kempf,W.,
            Itin,P.H. and Burger,B.
  TITLE     Novel TMC8 splice site mutation in epidermodysplasia verruciformis
            and review of HPV infections in patients with the disease
  JOURNAL   J Eur Acad Dermatol Venereol 31 (10), 1722-1726 (2017)
   PUBMED   28646613
  REMARK    GeneRIF: The relatively high proportion of EV patients without
            mutation in TMC6/8 indicates the existence of EV-causing mutations
            in additional, presently unknown gene(s). However, a homozygous
            TMC8 splice site mutation in our patients resulted in aberrant
            transcripts which cannot retain the healthy phenotype
            Review article
REFERENCE   6  (bases 1 to 4426)
  AUTHORS   Rady,P.L., De Oliveira,W.R., He,Q., Festa,C., Rivitti,E.A.,
            Tucker,S.B. and Tyring,S.K.
  TITLE     Novel homozygous nonsense TMC8 mutation detected in patients with
            epidermodysplasia verruciformis from a Brazilian family
  JOURNAL   Br J Dermatol 157 (4), 831-833 (2007)
   PUBMED   17711520
  REMARK    GeneRIF: study reports a novel nonsense mutation of the TMC8 gene
            in Brazilian patients with epidermodysplasia verruciformis
REFERENCE   7  (bases 1 to 4426)
  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   8  (bases 1 to 4426)
  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   9  (bases 1 to 4426)
  AUTHORS   Ramoz,N., Rueda,L.A., Bouadjar,B., Montoya,L.S., Orth,G. and
            Favre,M.
  TITLE     Mutations in two adjacent novel genes are associated with
            epidermodysplasia verruciformis
  JOURNAL   Nat Genet 32 (4), 579-581 (2002)
   PUBMED   12426567
  REMARK    GeneRIF: Mutations in EVER2 are associated with epidermodysplasia
            verruciformis.
REFERENCE   10 (bases 1 to 4426)
  AUTHORS   Ramoz,N., Taieb,A., Rueda,L.A., Montoya,L.S., Bouadjar,B., Favre,M.
            and Orth,G.
  TITLE     Evidence for a nonallelic heterogeneity of epidermodysplasia
            verruciformis with two susceptibility loci mapped to chromosome
            regions 2p21-p24 and 17q25
  JOURNAL   J Invest Dermatol 114 (6), 1148-1153 (2000)
   PUBMED   10844558
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC021593.15, DC407759.1,
            AY236500.1 and AK128327.1.
            
            On Aug 31, 2019 this sequence version replaced NM_152468.4.
            
            Summary: Epidermodysplasia verruciformis (EV) is an autosomal
            recessive dermatosis characterized by abnormal susceptibility to
            human papillomaviruses (HPVs) and a high rate of progression to
            squamous cell carcinoma on sun-exposed skin. EV is caused by
            mutations in either of two adjacent genes located on chromosome
            17q25.3. Both of these genes encode integral membrane proteins that
            localize to the endoplasmic reticulum and are predicted to form
            transmembrane channels. This gene encodes a transmembrane
            channel-like protein with 8 predicted transmembrane domains and 3
            leucine zipper motifs. [provided by RefSeq, Jul 2008].
            
            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 :: AK090478.1, SRR14038191.2039423.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000318430.10/ ENSP00000325561.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-7                 AC021593.15        55832-55838         c
            8-550               DC407759.1         3-545
            551-2630            AY236500.1         231-2310
            2631-4426           AK128327.1         1174-2969
FEATURES             Location/Qualifiers
     source          1..4426
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.3"
     gene            1..4426
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /note="transmembrane channel like 8"
                     /db_xref="GeneID:147138"
                     /db_xref="HGNC:HGNC:20474"
                     /db_xref="MIM:605829"
     exon            1..81
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            82..538
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     CDS             390..2570
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /note="epidermodysplasia verruciformis 2;
                     epidermodysplasia verruciformis protein 2"
                     /codon_start=1
                     /product="transmembrane channel-like protein 8"
                     /protein_id="NP_689681.2"
                     /db_xref="CCDS:CCDS32749.1"
                     /db_xref="GeneID:147138"
                     /db_xref="HGNC:HGNC:20474"
                     /db_xref="MIM:605829"
                     /translation="MLLPRSVSSERAPGVPEPEELWEAEMERLRGSGTPVRGLPYAMM
                     DKRLIWQLREPAGVQTLRWQRWQRRRQTVERRLREAAQRLARGLGLWEGALYEIGGLF
                     GTGIRSYFTFLRFLLLLNLLSLLLTASFVLLPLVWLRPPDPGPTLNLTLQCPGSRQSP
                     PGVLRFHNQLWHVLTGRAFTNTYLFYGAYRVGPESSSVYSIRLAYLLSPLACLLLCFC
                     GTLRRMVKGLPQKTLLGQGYQAPLSAKVFSSWDFCIRVQEAATIKKHEISNEFKVELE
                     EGRRFQLMQQQTRAQTACRLLSYLRVNVLNGLLVVGAISAIFWATKYSQDNKEESLFL
                     LLQYLPPGVIALVNFLGPLLFTFLVQLENYPPNTEVNLTLIWCVVLKLASLGMFSVSL
                     GQTILCIGRDKSSCESYGYNVCDYQCWENSVGEELYKLSIFNFLLTVAFAFLVTLPRR
                     LLVDRFSGRFWAWLEREEFLVPKNVLDIVAGQTVTWMGLFYCPLLPLLNSVFLFLTFY
                     IKKYTLLKNSRASSRPFRASSSTFFFQLVLLLGLLLAAVPLGYVVSSIHSSWDCGLFT
                     NYSAPWQVVPELVALGLPPIGQRALHYLGSHAFSFPLLIMLSLVLTVCVSQTQANARA
                     IHRLRKQLVWQVQEKWHLVEDLSRLLPEPGPSDSPGPKYPASQASRPQSFCPGCPCPG
                     SPGHQAPRPGPSVVDAAGLRSPCPGQHGAPASARRFRFPSGAEL"
     exon            539..687
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            688..837
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            838..920
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            921..1057
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1058..1205
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1206..1376
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1377..1516
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1517..1640
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1641..1738
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1739..1922
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            1923..2053
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2054..2212
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2213..2291
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     exon            2292..4426
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2800..2805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /note="hexamer: AATATA"
     polyA_site      2825
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
     regulatory      4406..4411
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /note="hexamer: ATTAAA"
     polyA_site      4426
                     /gene="TMC8"
                     /gene_synonym="EV2; EVER2; EVIN2"
                     /note="major polyA site"
ORIGIN      
        1 gctccctcac caccctgcct ggcttggcag gagtcgtctg agaaggggac tcctccaggg
       61 acttggtccc taggtcccca gatggggaga ctgaggccgt ggctgtgtgt ccctctgaga
      121 gttggagcgg ggctgggccc gaattcgacc gcagcaggat tctctctcat ttctgagccc
      181 cggaggtggc agagcggcag acccgggcaa gtgaacccta gggctgcagg agcccaggcc
      241 ccgacgccgg cgcagagggg acggaagggc ccgcccccag cccagcgtgc acagaggcca
      301 tagccaaggc cttaaggctc atccaaccgg ggactcatat cccccccacc ggcagcccgg
      361 cgccccagcc tctacccgtg cccgccgaga tgctgctgcc gcggtcggtg tcatcggagc
      421 gggcccctgg ggtgccggag ccggaggagc tgtgggaggc agagatggag cggctgcgcg
      481 gctctgggac gcccgtgcgc gggctgccct atgccatgat ggacaagcgc ctcatctggc
      541 agctgcggga gcccgcgggg gtgcagacct tgcgctggca gcggtggcag cgccggcggc
      601 agacggtgga aaggcgcctg cgggaggcag cgcagcggct ggcccggggc cttgggctct
      661 gggagggggc gctctacgag atcgggggcc tcttcggcac aggaattcgg tcctacttca
      721 ccttcctccg cttcctgctg ctactcaacc tgctgagcct gctgctcacc gcaagcttcg
      781 tgctgctgcc cctggtctgg ctccgccccc ctgacccagg ccccaccctg aacttgaccc
      841 tccagtgccc tggtagccgc cagtccccgc ctggcgtttt gaggttccac aatcaacttt
      901 ggcatgtttt gactggcagg gccttcacca acacctatct cttctacggt gcgtaccgag
      961 tggggccgga gagcagctcc gtgtacagca tccgcctggc ctacctcctc agcccgctgg
     1021 cctgcctgct cctctgcttc tgtgggactc tgcggcggat ggtgaagggg ctgccgcaga
     1081 agactctgct gggtcagggc tatcaggcgc ctctcagcgc caaggtcttc tcctcatggg
     1141 acttctgcat ccgggtgcag gaagcagcca ccatcaagaa gcatgagatc agcaacgagt
     1201 tcaaggtgga gctggaggag ggccgtcgct tccagctgat gcagcagcag acccgggccc
     1261 agacggcctg ccgcctgctc tcctacctgc gggtcaacgt actcaacggg ctcctggtgg
     1321 ttggggccat cagcgccatc ttctgggcta ccaagtactc acaggacaac aaggaggagt
     1381 ccctgtttct gctgctccag tacctgcccc ctggggtcat cgccctggtc aacttcctgg
     1441 gtcccctgct gttcacattt ctggtccagc tggagaacta ccctcccaac acggaggtca
     1501 acctcactct gatctggtgc gtggtgctga agctggccag cttggggatg ttctccgtct
     1561 ccctgggtca gaccatactg tgcattggca gagacaagag cagctgtgag tcctacggct
     1621 acaacgtttg tgactatcag tgctgggaga actccgtggg ggaggagctg tacaagctga
     1681 gtatcttcaa cttcctcctc accgtggcct tcgccttcct ggtcaccctg cctcggaggc
     1741 tgctggtgga ccggttctca ggccggttct gggcctggct ggaacgggag gagttcctgg
     1801 tccccaagaa tgtgctggac atcgtggcgg ggcagacggt cacctggatg ggcctcttct
     1861 actgccccct gctgcccctg ctgaatagcg tcttcctctt cctcaccttc tacatcaaga
     1921 agtacaccct cctgaagaac tccagggcat cttcgcggcc cttccgtgcc tccagctcca
     1981 ccttcttctt ccagctagtg ctcctcctgg gcctgcttct ggctgcagtg cccctgggct
     2041 atgtggtcag cagcatccac tcctcctggg actgcggcct cttcaccaac tactcagcac
     2101 cctggcaagt ggtcccggag ctggtggccc ttgggctccc gcccattggc cagcgtgccc
     2161 tccactacct gggctcccac gccttcagct tccccctcct catcatgctc agccttgtcc
     2221 tgacggtgtg cgtctcccag acccaggcca atgccagggc catccacagg ctccggaagc
     2281 agctggtgtg gcaggttcag gagaagtggc acctggtgga ggacctgtcg cgactgctgc
     2341 cggagccagg cccgagcgac tctccgggcc ccaagtaccc tgcctcccaa gcttcgcgcc
     2401 cgcagtcctt ctgccccgga tgcccatgcc ctggctcccc gggccaccag gccccgcggc
     2461 cgggcccctc cgtcgtggat gccgcgggac tgcgttcccc ttgccctgga cagcacggtg
     2521 ccccggcctc cgcccgcaga ttccgcttcc ccagcggcgc ggagctgtaa cccctacccc
     2581 tgcctccccg aagcctccct ggggcccctt caggcctcct tactccatct tccagacccc
     2641 tggcgaccac cgcccctctc agtggctcca gggcctccct cagaggtccc caaagatgga
     2701 cacacaaccc cagcggcagc aggaaaaaca tatgggaatt ttctttctat attttaatct
     2761 catcccttta aaatgtctat tttttattgt gttttttata atatacataa tctattagta
     2821 tagtatctct tgaatgcgat tttttctaga atgtgttctg ctgatttgtt ttagagccat
     2881 gagtgcaatt tatacacata catctattgg gaatgctcag aagttgttta ctgatggaag
     2941 tgccttcaga agagtccggg aaccacttcc taaggaagga aagagctggc cacagttaga
     3001 gcaagcctgc ctggggccct gctctgtgtt ccagctgcaa actgcctgca tcatcccttc
     3061 ctgttactct tccttcacct gagacagtcg aggccacagc gtcagccagg gccagagctg
     3121 ggatttgaac ccaggcactc gggctccaga gccacactgc cccagtgtgg ggcttagtgg
     3181 cggctcctgg ccctgactga ggggctgact gaagcctggt gagagcgtgc tgggtcagcc
     3241 tctccctggc gggaatcctc tccgtccagt cttctaacct agcagcctca cgtccacaga
     3301 gctgccttgt gaaactcagc agagccctgg cttcctgcag agccgtgttc tcccagcctg
     3361 cttcatggct ccctggttga gccaagcttg cggatccgtg gggtgaaggt acccgcaccg
     3421 cctgggcctt agtggtatgt acgggcctgc atcgtgagca gcgggcgggg gcccaggcag
     3481 gtgaggcagc tggccacaag ggcagggccc ggcccccctc ccaaggctgt gtctgatatt
     3541 cttgagcctg ttcgagtttc cttttccaag cctcctgttc tcccaccccc acccctgcca
     3601 tgctgcagtg actaaatctg tggttctcat ccttggagaa cacctgagta gctgctacaa
     3661 gctggccaca gcccagcgac tctgatgtgg ttgggctggg tgtggccagc agccagggca
     3721 tcgggacttt tcgaagctcc caggtgactc accggcagct ggggatgaga actgtcagga
     3781 gggaaggtca gaagtcccag gatgcacttg aaaagcctct agctccacca gtgaccagct
     3841 cctggctgga ctcctggtct ggactcagca tcagggaggc tctggcctct cgccctcagg
     3901 gctgggggct tcttcacatg gtcatcaaag acttggccag ttccgcctct cccacggccg
     3961 tccttgtctc acccagcatc acgacgcatc agttcaccaa caaacacgat tcagtgctgc
     4021 tagtgctggg tcctgttctg ggggctggtg atgaggccaa gagggaaaga gggagctctg
     4081 tgttccatcg agggggcgac aagcctggac cagatgaaag tgactcatgt tgttaattag
     4141 cggcttaggg ccaaaggtgg cccctggacc agtggcctca gcatcacctg ggaaaaggtt
     4201 agaaatgaac attcccaggc cccacctcag cctcctgaat cagagcatcc ctttggcaaa
     4261 ccatactgag aaacaaccac gtgcatcacc aagcgctgtg aagaaggcaa gctttgagac
     4321 cttgaaggaa tcatcaaact ctgggcctcg gtgtgctcac ccagggcgag acaaagacgc
     4381 catgctcctc caagtggcct ccaagattaa atgagcaatg actttt
//
