LOCUS       NM_018426               3284 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens transmembrane protein 63B (TMEM63B), transcript
            variant 2, mRNA.
ACCESSION   NM_018426 XM_371822
VERSION     NM_018426.3
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 3284)
  AUTHORS   Chen,G.L., Li,J.Y., Chen,X., Liu,J.W., Zhang,Q., Liu,J.Y., Wen,J.,
            Wang,N., Lei,M., Wei,J.P., Yi,L., Li,J.J., Ling,Y.P., Yi,H.Q.,
            Hu,Z., Duan,J., Zhang,J. and Zeng,B.
  TITLE     Mechanosensitive channels TMEM63A and TMEM63B mediate lung
            inflation-induced surfactant secretion
  JOURNAL   J Clin Invest 134 (5), e174508 (2024)
   PUBMED   38127458
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3284)
  AUTHORS   Zheng,W., Rawson,S., Shen,Z., Tamilselvan,E., Smith,H.E.,
            Halford,J., Shen,C., Murthy,S.E., Ulbrich,M.H., Sotomayor,M.,
            Fu,T.M. and Holt,J.R.
  TITLE     TMEM63 proteins function as monomeric high-threshold
            mechanosensitive ion channels
  JOURNAL   Neuron 111 (20), 3195-3210 (2023)
   PUBMED   37543036
REFERENCE   3  (bases 1 to 3284)
  AUTHORS   Vetro,A., Pelorosso,C., Balestrini,S., Masi,A., Hambleton,S.,
            Argilli,E., Conti,V., Giubbolini,S., Barrick,R., Bergant,G.,
            Writzl,K., Bijlsma,E.K., Brunet,T., Cacheiro,P., Mei,D., Devlin,A.,
            Hoffer,M.J.V., Machol,K., Mannaioni,G., Sakamoto,M., Menezes,M.P.,
            Courtin,T., Sherr,E., Parra,R., Richardson,R., Roscioli,T.,
            Scala,M., von Stulpnagel,C., Smedley,D., Torella,A., Tohyama,J.,
            Koichihara,R., Hamada,K., Ogata,K., Suzuki,T., Sugie,A., van der
            Smagt,J.J., van Gassen,K., Valence,S., Vittery,E., Malone,S.,
            Kato,M., Matsumoto,N., Ratto,G.M. and Guerrini,R.
  CONSRTM   TMEM63B collaborators; Genomics England Research Consortium
  TITLE     Stretch-activated ion channel TMEM63B associates with developmental
            and epileptic encephalopathies and progressive neurodegeneration
  JOURNAL   Am J Hum Genet 110 (8), 1356-1376 (2023)
   PUBMED   37421948
  REMARK    GeneRIF: Stretch-activated ion channel TMEM63B associates with
            developmental and epileptic encephalopathies and progressive
            neurodegeneration.
REFERENCE   4  (bases 1 to 3284)
  AUTHORS   Wu,D., Xu,L., Cai,W.M., Zhan,S.Y., Wan,G., Xu,Y. and Shi,Y.S.
  TITLE     A splicing-dependent ER retention signal regulates surface
            expression of the mechanosensitive TMEM63B cation channel
  JOURNAL   J Biol Chem 299 (1), 102781 (2023)
   PUBMED   36496074
REFERENCE   5  (bases 1 to 3284)
  AUTHORS   Marques,M.C., Albuquerque,I.S., Vaz,S.H. and Bernardes,G.J.L.
  TITLE     Overexpression of Osmosensitive Ca2+-Permeable Channel TMEM63B
            Promotes Migration in HEK293T Cells
  JOURNAL   Biochemistry 58 (26), 2861-2866 (2019)
   PUBMED   31243992
  REMARK    GeneRIF: overexpression of TMEM63B in HEK293T cells significantly
            enhanced cell migration and wound healing.
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            DC408120.1 and BC022095.1.
            
            On Nov 22, 2018 this sequence version replaced NM_018426.2.
            
            Transcript Variant: This variant (2) differs in the 5' UTR compared
            to variant 1. Variants 1 and 2 encode the same protein.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR7346977.1307514.1,
                                           SRR9304717.351515.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000323267.11/ ENSP00000327154.6
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-543               DC408120.1         1-543
            544-3284            BC022095.1         181-2921
FEATURES             Location/Qualifiers
     source          1..3284
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.1"
     gene            1..3284
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /note="transmembrane protein 63B"
                     /db_xref="GeneID:55362"
                     /db_xref="HGNC:HGNC:17735"
                     /db_xref="MIM:619952"
     exon            1..125
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            126..308
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     CDS             150..2648
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /codon_start=1
                     /product="CSC1-like protein 2"
                     /protein_id="NP_060896.1"
                     /db_xref="CCDS:CCDS34461.1"
                     /db_xref="GeneID:55362"
                     /db_xref="HGNC:HGNC:17735"
                     /db_xref="MIM:619952"
                     /translation="MLPFLLATLGTTALNNSNPKDYCYSARIRSTVLQGLPFGGVPTV
                     LALDFMCFLALLFLFSILRKVAWDYGRLALVTDADRLRRQERDRVEQEYVASAMHGDS
                     HDRYERLTSVSSSVDFDQRDNGFCSWLTAIFRIKDDEIRDKCGGDAVHYLSFQRHIIG
                     LLVVVGVLSVGIVLPVNFSGDLLENNAYSFGRTTIANLKSGNNLLWLHTSFAFLYLLL
                     TVYSMRRHTSKMRYKEDDLVKRTLFINGISKYAESEKIKKHFEEAYPNCTVLEARPCY
                     NVARLMFLDAERKKAERGKLYFTNLQSKENVPTMINPKPCGHLCCCVVRGCEQVEAIE
                     YYTKLEQKLKEDYKREKEKVNEKPLGMAFVTFHNETITAIILKDFNVCKCQGCTCRGE
                     PRPSSCSESLHISNWTVSYAPDPQNIYWEHLSIRGFIWWLRCLVINVVLFILLFFLTT
                     PAIIITTMDKFNVTKPVEYLNNPIITQFFPTLLLWCFSALLPTIVYYSAFFEAHWTRS
                     GENRTTMHKCYTFLIFMVLLLPSLGLSSLDLFFRWLFDKKFLAEAAIRFECVFLPDNG
                     AFFVNYVIASAFIGNAMDLLRIPGLLMYMIRLCLARSAAERRNVKRHQAYEFQFGAAY
                     AWMMCVFTVVMTYSITCPIIVPFGLMYMLLKHLVDRYNLYYAYLPAKLDKKIHSGAVN
                     QVVAAPILCLFWLLFFSTMRTGFLAPTSMFTFVVLVITIVICLCHVCFGHFKYLSAHN
                     YKIEHTETDTVDPRSNGRPPTAAAVPKSAKYIAQVLQDSEVDGDGDGAPGSSGDEPPS
                     SSSQDEELLMPPDALTDTDFQSCEDSLIENEIHQ"
     exon            309..388
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            389..427
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            428..518
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            519..556
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            557..699
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            700..751
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            752..860
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            861..931
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1012
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1013..1136
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1137..1270
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1271..1408
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1409..1562
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1563..1669
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1670..1756
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1757..1822
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1823..1985
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            1986..2091
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            2092..2259
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            2260..2375
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            2376..2456
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     exon            2457..3284
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3261..3266
                     /regulatory_class="polyA_signal_sequence"
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /note="hexamer: AATAAA"
     polyA_site      3284
                     /gene="TMEM63B"
                     /gene_synonym="C6orf110"
                     /note="major polyA site"
ORIGIN      
        1 atacactgcc gcggccgccg caggagcccg gagctcgagc cgcccagcga ctccccctcc
       61 ccctccccca gccccgcccc gccccaaccc ggggctccga gccggagccg agtctgcgcc
      121 tgggggagga ccatgcggca gtagcagcca tgctgccctt tctgctggcc acactgggca
      181 ccacagccct caacaacagc aaccccaagg actactgcta cagcgcccgc atccgcagca
      241 ctgtcctgca gggcctgccc tttgggggcg tccccaccgt gctggctctc gacttcatgt
      301 gcttccttgc actgctgttc ttattctcta tcctccggaa ggtggcctgg gactatgggc
      361 ggctggcctt ggtgacagat gcagacaggc ttcggcggca ggagagggac cgagtggaac
      421 aggaatatgt ggcttcagct atgcacgggg acagccatga ccggtatgag cgtctcacct
      481 ctgtctccag ctccgttgac tttgaccaaa gggacaatgg tttctgttcc tggctgacag
      541 ccatcttcag gataaaggat gatgagatcc gggacaaatg tgggggcgat gccgtgcact
      601 acctgtcctt tcagcggcac atcatcgggc tgctggtggt tgtgggcgtc ctctccgtag
      661 gcatcgtgct gcctgtcaac ttctcagggg acctgctgga gaacaatgcc tacagctttg
      721 ggagaaccac cattgccaac ttgaaatcag ggaacaacct gctatggctg cacacctcct
      781 tcgccttcct gtatctgctg ctcaccgtct acagcatgcg tagacacacc tccaagatgc
      841 gctacaagga ggatgatctg gtgaagcgga ccctcttcat caatggaatc tccaaatatg
      901 cagagtcaga aaagatcaag aagcattttg aggaagccta ccccaactgc acagttctcg
      961 aagcccgccc gtgttacaac gtggctcgcc taatgttcct cgatgcagag aggaagaagg
     1021 ccgagcgggg aaagctgtac ttcacaaacc tccagagcaa ggagaacgtg cctaccatga
     1081 tcaaccccaa gccctgtggc cacctctgct gctgtgtggt gcgaggctgt gagcaggtgg
     1141 aggccattga gtactacaca aagctggagc agaagctgaa ggaagactac aagcgggaga
     1201 aggagaaggt gaatgagaag cctcttggca tggcctttgt caccttccac aatgagacta
     1261 tcaccgccat catcctgaag gacttcaacg tgtgtaaatg ccagggctgc acctgccgtg
     1321 gggagccacg cccctcatcc tgcagcgagt ccctgcacat ctccaactgg accgtgtcct
     1381 atgcccctga ccctcagaac atctactggg agcacctctc catccgaggc ttcatctggt
     1441 ggctgcgctg cctggtcatc aatgtcgtcc tcttcatcct cctcttcttc ctcaccactc
     1501 cagccatcat catcaccacc atggacaagt tcaacgtcac caagcctgtg gagtacctca
     1561 acaaccccat catcacccag ttcttcccca ccctgctgct gtggtgcttc tcggccctcc
     1621 ttcccaccat cgtctactac tcagccttct ttgaagccca ctggacacgc tctggggaga
     1681 acaggacaac catgcacaag tgctacactt tcctcatctt catggtgctg ctcctaccct
     1741 cgctgggact gagcagcctg gacctcttct tccgctggct ctttgataag aaattcttgg
     1801 ctgaggcagc tattcggttt gagtgtgtgt tcctgcccga caacggcgcc ttcttcgtga
     1861 actacgtcat tgcctcagcc tttatcggca acgccatgga cctgctgcgc atcccaggcc
     1921 tgctcatgta catgatccgg ctctgcctgg cgcgctcggc cgccgagagg cgcaacgtga
     1981 agcggcatca ggcctacgag ttccagtttg gcgcagccta cgcctggatg atgtgcgtct
     2041 tcacggtggt catgacctac agtatcacct gccccatcat cgtgcccttc gggctcatgt
     2101 acatgctgct gaagcacctg gtagacaggt acaatctcta ctacgcctac ctgccggcca
     2161 agctggacaa gaagatccac tcgggggctg tgaaccaggt ggtggccgcg cccatcctct
     2221 gcctcttctg gctgctcttc ttttccacca tgcgcacggg gttcctagct cccacgtcta
     2281 tgttcacatt tgtggtcctg gtcatcacca tcgtcatctg tctctgccac gtctgctttg
     2341 gacacttcaa atacctcagt gcccacaact acaagattga gcacacggag acagatactg
     2401 tggaccccag aagcaatgga cggcccccca ctgctgctgc tgtccccaaa tctgcgaaat
     2461 acatcgctca ggtgctgcag gactcagagg tggacgggga tggggatggg gctcctggga
     2521 gctcagggga tgagccccca tcatcctcat cccaagatga ggagttgctg atgccacccg
     2581 acgccctcac ggacacagac ttccagtctt gcgaggacag cctcatagag aatgagattc
     2641 accagtaagg ggagggaggg gccctggagg ccacatcctg ccccacccca cccccactcc
     2701 cacggacact aaaacgctaa taatttatta gatctaaagc cccttcctcc ccagcccctg
     2761 ctttcattaa ggtatttaaa cttgggggtt tcactgctct cccccatgat ggagggaggg
     2821 agccccccaa cctcagtgag gagagccccg agccggcccc ggggcaaaga ggggtgcaga
     2881 gggagttccc ccagatcagt accccccacc cctccccagc tagtagcatg accaggagag
     2941 ggttaatgag agccaagagg agtacctggt gcacctggtg ccggtggctg gagacctggg
     3001 gggcaggtgg atctggggct gttccccccc ctccgttttt tccaccccac agttcctcct
     3061 gggatctggc cctccaggga agtggagcct ccagccccta ggggatgcat gaggggggag
     3121 ggggtgctga gtgggaggaa gagtcaggct cacagctggg gtggcctggg ggtgggggtg
     3181 ggcaaggctg acactggaaa atgggttttt gcactgtttt ttttttggtt tttttgttct
     3241 tttttgtttt tttcctttaa aataaaaaca aagaaaagct ctga
//
