LOCUS       NM_001038603            4423 bp    mRNA    linear   PRI 04-DEC-2024
DEFINITION  Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript
            variant 1, mRNA.
ACCESSION   NM_001038603
VERSION     NM_001038603.3
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 4423)
  AUTHORS   Alruwaili,M., Armstrong,S., Prince,T., Erdmann,M., Matthews,D.A.,
            Luu,L., Davidson,A., Aljabr,W. and Hiscox,J.A.
  TITLE     SARS-CoV-2 NSP12 associates with TRiC and the P323L substitution
            acts as a host adaption
  JOURNAL   J Virol 97 (11), e0042423 (2023)
   PUBMED   37929963
  REMARK    GeneRIF: SARS-CoV-2 NSP12 associates with TRiC and the P323L
            substitution acts as a host adaption.
REFERENCE   2  (bases 1 to 4423)
  AUTHORS   Han,W., Jin,M., Liu,C., Zhao,Q., Wang,S., Wang,Y., Yin,Y., Peng,C.,
            Wang,Y. and Cong,Y.
  TITLE     Structural basis of plp2-mediated cytoskeletal protein folding by
            TRiC/CCT
  JOURNAL   Sci Adv 9 (11), eade1207 (2023)
   PUBMED   36921056
  REMARK    GeneRIF: Structural basis of plp2-mediated cytoskeletal protein
            folding by TRiC/CCT.
REFERENCE   3  (bases 1 to 4423)
  AUTHORS   He,Y. and Li,D.Z.
  TITLE     Co-occurrence of two rare genetic diseases: A potential pitfall for
            prenatal diagnosis in successive pregnancies
  JOURNAL   Prenat Diagn 40 (12), 1606-1609 (2020)
   PUBMED   33015857
  REMARK    GeneRIF: Co-occurrence of two rare genetic diseases: A potential
            pitfall for prenatal diagnosis in successive pregnancies.
REFERENCE   4  (bases 1 to 4423)
  AUTHORS   Zhang,J.X., Qin,M.B., Ye,Z., Peng,P., Li,S.M., Song,Q., Lin,L.,
            Liu,S.Q., Xie,L.H., Zhu,Y. and Huang,J.A.
  TITLE     Association of tricellulin expression with poor colorectal cancer
            prognosis and metastasis
  JOURNAL   Oncol Rep 44 (5), 2174-2184 (2020)
   PUBMED   33000262
  REMARK    GeneRIF: Association of tricellulin expression with poor colorectal
            cancer prognosis and metastasis.
REFERENCE   5  (bases 1 to 4423)
  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   6  (bases 1 to 4423)
  AUTHORS   Ikenouchi,J., Furuse,M., Furuse,K., Sasaki,H., Tsukita,S. and
            Tsukita,S.
  TITLE     Tricellulin constitutes a novel barrier at tricellular contacts of
            epithelial cells
  JOURNAL   J Cell Biol 171 (6), 939-945 (2005)
   PUBMED   16365161
REFERENCE   7  (bases 1 to 4423)
  AUTHORS   Zhang,Y., Wolf-Yadlin,A., Ross,P.L., Pappin,D.J., Rush,J.,
            Lauffenburger,D.A. and White,F.M.
  TITLE     Time-resolved mass spectrometry of tyrosine phosphorylation sites
            in the epidermal growth factor receptor signaling network reveals
            dynamic modules
  JOURNAL   Mol Cell Proteomics 4 (9), 1240-1250 (2005)
   PUBMED   15951569
REFERENCE   8  (bases 1 to 4423)
  AUTHORS   Ramzan,K., Shaikh,R.S., Ahmad,J., Khan,S.N., Riazuddin,S.,
            Ahmed,Z.M., Friedman,T.B., Wilcox,E.R. and Riazuddin,S.
  TITLE     A new locus for nonsyndromic deafness DFNB49 maps to chromosome
            5q12.3-q14.1
  JOURNAL   Hum Genet 116 (1-2), 17-22 (2005)
   PUBMED   15538632
  REMARK    GeneRIF: Maps to 5q12.3-q14.1.
REFERENCE   9  (bases 1 to 4423)
  AUTHORS   Gubin,A.N., Njoroge,J.M., Bouffard,G.G. and Miller,J.L.
  TITLE     Gene expression in proliferating human erythroid cells
  JOURNAL   Genomics 59 (2), 168-177 (1999)
   PUBMED   10409428
REFERENCE   10 (bases 1 to 4423)
  AUTHORS   Shearer,A.E., Hildebrand,M.S., Odell,A.M. and Smith,R.J.H.
  TITLE     Genetic Hearing Loss Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301607
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BG943115.1, BC033689.1,
            AK292962.1 and AC145146.2.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001038603.2.
            
            Summary: The protein encoded by this gene is a membrane protein
            found at the tight junctions between epithelial cells. The encoded
            protein helps establish epithelial barriers such as those in the
            organ of Corti, where these barriers are required for normal
            hearing. Defects in this gene are a cause of deafness autosomal
            recessive type 49 (DFNB49). Two transcript variants encoding
            different isoforms have been found for this gene. [provided by
            RefSeq, Sep 2011].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: SRR1660807.143266.1, BC033689.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968540, SAMEA1968832
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000325631.10/ ENSP00000323264.5
            RefSeq Select criteria :: based on conservation, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-11                BG943115.1         6-16
            12-167              BC033689.1         1-156
            168-168             AK292962.1         156-156
            169-2145            BC033689.1         158-2134
            2146-2146           AK292962.1         2134-2134
            2147-2156           BC033689.1         2136-2145
            2157-4423           AC145146.2         61360-63626         c
FEATURES             Location/Qualifiers
     source          1..4423
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="5"
                     /map="5q13.2"
     gene            1..4423
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="MARVEL domain containing 2"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
     exon            1..55
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     exon            56..1216
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     CDS             71..1747
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="isoform 1 is encoded by transcript variant 1;
                     tricellulin; MARVEL (membrane-associating) domain
                     containing 2; MARVEL domain-containing protein 2"
                     /codon_start=1
                     /product="MARVEL domain-containing protein 2 isoform 1"
                     /protein_id="NP_001033692.2"
                     /db_xref="CCDS:CCDS34175.1"
                     /db_xref="GeneID:153562"
                     /db_xref="HGNC:HGNC:26401"
                     /db_xref="MIM:610572"
                     /translation="MSNDGRSRNRDRRYDEVPSDLPYQDTTIRTHPTLHDSERAVSAD
                     PLPPPPLPLQPPFGPDFYSSDTEEPAIAPDLKPVRRFVPDSWKNFFRGKKKDPEWDKP
                     VSDIRYISDGVECSPPASPARPNHRSPLNSCKDPYGGSEGTFSSRKEADAVFPRDPYG
                     SLDRHTQTVRTYSEKVEEYNLRYSYMKSWAGLLRILGVVELLLGAGVFACVTAYIHKD
                     SEWYNLFGYSQPYGMGGVGGLGSMYGGYYYTGPKTPFVLVVAGLAWITTIIILVLGMS
                     MYYRTILLDSNWWPLTEFGINVALFILYMAAAIVYVNDTNRGGLCYYPLFNTPVNAVF
                     CRVEGGQIAAMIFLFVTMIVYLISALVCLKLWRHEAARRHREYMEQQEINEPSLSSKR
                     KMCEMATSGDRQRDSEVNFKELRTAKMKPELLSGHIPPGHIPKPIVMPDYVAKYPVIQ
                     TDDERERYKAVFQDQFSEYKELSAEVQAVLRKFDELDAVMSRLPHHSESRQEHERISR
                     IHEEFKKKKNDPTFLEKKERCDYLKNKLSHIKQRIQEYDKVMNWDVQGYS"
     exon            1217..1252
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     exon            1253..1401
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     exon            1402..1573
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     exon            1574..1624
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     exon            1625..4423
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4285..4290
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="hexamer: ATTAAA"
     polyA_site      4305
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="major polyA site"
     regulatory      4394..4399
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
                     /note="hexamer: AATAAA"
     polyA_site      4423
                     /gene="MARVELD2"
                     /gene_synonym="DFNB49; MARVD2; MRVLDC2; Tric"
ORIGIN      
        1 gataccggtt tcagagtcct gggcagcgtg cgcgctcttc ctggcggctg cgcaggtgtg
       61 aaaatcacaa atgtcaaatg atggaagatc caggaatcgg gacaggcgct acgatgaggt
      121 cccaagcgac ctgccctatc aagataccac cataagaacc cacccaactc ttcatgacag
      181 tgagcgggca gtgagcgctg atcccttgcc accaccccct ctcccattac agccaccatt
      241 cggcccagac ttctactcaa gtgacacaga agaaccagct atagcgccag atctcaaacc
      301 agtaaggcgc tttgtccctg actcctggaa gaactttttc agagggaaga aaaaggaccc
      361 cgaatgggat aagccggtgt ctgatatcag gtacatctcc gatggagtgg agtgttcacc
      421 accagcctct ccagcaagac caaaccaccg ttcgcccctc aactcctgca aagatcccta
      481 cggagggtca gaaggaacct ttagttcccg gaaagaggct gacgcagtgt ttccccggga
      541 tccctatgga tctctagacc gacacacaca aacagttcga acatacagtg agaaggtgga
      601 ggagtataac ctgagatact cctacatgaa gtcgtgggca ggcctgctga gaatactggg
      661 tgtggtggag ctgcttttgg gggccggtgt ctttgcttgt gtcacagctt acattcacaa
      721 ggacagtgag tggtacaact tgtttggata ttcacaaccg tatggcatgg gaggcgttgg
      781 tggattgggc agtatgtatg ggggctatta ctacactggc cctaagaccc cttttgtact
      841 cgtggttgct ggattagctt ggatcaccac cattattatt ctggttcttg gcatgtccat
      901 gtattaccgg accattcttc tggactctaa ttggtggccc ctaactgaat ttggaattaa
      961 cgttgccttg tttattttgt atatggccgc agccatagtc tatgtgaatg ataccaaccg
     1021 aggtggcctc tgctactatc cgttatttaa tacaccagtg aatgcagtgt tctgccgggt
     1081 agaaggagga cagatagctg caatgatctt cctgtttgtc accatgatag tttatctcat
     1141 tagtgctttg gtttgcctaa agttatggag gcatgaggca gctcggagac atagagaata
     1201 tatggaacaa caggagataa atgagccatc attgtcatcg aaaaggaaaa tgtgtgaaat
     1261 ggccaccagt ggtgacagac aaagagactc agaagttaat ttcaaggaac tgagaacagc
     1321 aaaaatgaaa cctgaactac tgagtggaca catcccccca ggccacattc ctaaacctat
     1381 cgtgatgccc gactatgtgg caaaataccc tgtgattcag acagatgatg agcgagaacg
     1441 ctataaagct gtgttccaag accagttttc agagtacaaa gagctgtctg cagaagttca
     1501 ggctgtcctg aggaagtttg atgagctgga tgcagtgatg agcagattgc cacatcattc
     1561 ggaaagccga caggaacatg agagaatttc aagaatccat gaagagttta agaaaaaaaa
     1621 gaatgatcct acatttctgg aaaaaaaaga acgctgtgat tacctaaaga ataaactttc
     1681 tcacataaag caaagaattc aagaatatga taaagtaatg aattgggatg tacaaggtta
     1741 ttcttaacgc ttatttgaaa ccactttatt tttttatttt attttatttt tttgagatga
     1801 agtctcgctc tgttacccag gctggaatgc agtggcacaa tctcggctca ctgcaacctc
     1861 cacctcccgg gttcaagcaa ttctcctgtt caagcaatta gcctccccag tagctgggat
     1921 tacaggcgtg cgctgccaca ccccgctaat ttttgtattt ttagtagaga cgaggtttca
     1981 ccatgttggt caggctggga aactactttt tttaaaaaat agcaagttta ctatttattt
     2041 actgcctttt taatgctagc ctctgtggta gagaagcaag cgcttcccaa atcagcttcc
     2101 aattggttta accagtatgc aacattaaag attttactca gacattttta aacgaattca
     2161 aatgttctaa gggcctttac taagaatgga aaaaatcctg tgttcatctt tcatctgtga
     2221 ccaatttcat attcatctat ctcatttaaa tgtgtcatca ttttagagat cgtatcctgg
     2281 cagtgtgatg ggcaagtgga ccatcaattc tggtgctact ttttcctttt ttactcaggc
     2341 aggttcctag gatttttctg ggacaaattt ctcttcctag agaaattcct aggggatttc
     2401 taaaggattt ttctaaggga aaaagggtga catctttcaa aggtgtcatt tattcccttg
     2461 aaaggtgttt gaatcccaga tcaacatttt cagacatcct gatcttgggc aaattgctta
     2521 atctctctgt gcctgtttcc tcttctgtaa aatggggcta ataatagttc cttcctcata
     2581 gagttgttag gattaaagga gttactaata tggtaggaac tatattagtg tttgtgaagt
     2641 ctactgaagt gtttgtgaaa tgaataaatt ataaagaatg agtctcaaga aaaggtcctt
     2701 aatgagcaag cccaacctac ttaaccaaaa gcccaagtgt ctggtgcctt tctggtttgt
     2761 ggtgttaact catggcctta gcctggtgct tcactgtggc tctgtggccc ctggggttcc
     2821 acatggcctc cctgtctttc atcagtgtga ctgtacatct ctccatctcc ccatagtcca
     2881 gcctgccctg gacacattga attgtatgaa tggtattgct tttttttttt tttttttgtg
     2941 agacagagtc ttactctgtt gcccagactg gagtgcagtg gtgcgatctc ggctcactgc
     3001 aagctccgcc tcccaagttc acgtcatttt cctgcctcag cctcccgagt agctgggact
     3061 acaggcacct gccaccacgc ccagctaatt tttttgtatt tttagtagag atggggtttc
     3121 accgtgttag ccaggatgat ctcgatctcc tgacctcatg atccacccgc ctcagcctcc
     3181 caaagtgttg ggattacagg cgtgagtcac cgcgcccagc tggtattgct tttctattcc
     3241 ctttggacat acatgctaca gtcccacaat gtagcatttc cttggaaact cccttttttt
     3301 ttttttttga gatggagttt cgctcttgtt gcccaggctg gagtacagtg gtatgatctt
     3361 ggctcactgc agcctctgcc tcctgggttc aagcgattct cctgcctctg cctcccaagt
     3421 agctgggatt acaggcaccc accaccatgc ccagctaatt ttttgtattt ttagtagaga
     3481 caggatttca ctatgttggc caggttggtc tcaagctcct gacctcagat gatctaccag
     3541 cctcggcctt ctgaagtgct gggattcagg tgtgagccac tgtgcccagc agggatgctt
     3601 catctttcta agaattatct tggctttgga ctttattcat aaatgtttta tttctgttag
     3661 tatgaacaat agactgcctt aacaaagttt ttttttaaac aaaatcgttc ttgttggatt
     3721 ttattcagca gcatctatca tgtagataaa ttcccaggtg tagcattaca gcttctgact
     3781 aatatagctg ccattcagac aattaatgtt caaagagttt tctaaagtga taaaaccaaa
     3841 gaaaagcatg tggaaaagca gaagcttaga aagttgtggt cactgaatgc actccctggt
     3901 ttttatttgt cagtgaaatc tttatgcatt cattgttaat attttaattc catggctttg
     3961 taggctgtgc tgtgtctgaa ggggtaacac ctagggaaac atgaggcccc ttatgggacc
     4021 ccccaaatgg aacaacttca ctttctcttt tatgtattga gccctgtgtt aacatttcac
     4081 ttaagaagag caccagtgct ttaaaaaaaa aaaaaggtaa aatattacca ttttgataga
     4141 ctgtaaagag ttagattcct gttgaagtgt taaggaaatt taactttgtg aaacttttaa
     4201 aataaagttt ataaatgtag ctaatctttg aaaaaccaat gcagtaacac tgatttgtaa
     4261 atgttgtggt caatccctag gtgcattaaa gtttcagtca cctgccgtgt gtgtgtgtgc
     4321 ccttttatgt ttgccttcct agcattcctg tgttcactgt gcatgttctt gaaaatattt
     4381 tcacttgtca gaaaataaac tggaaagtca ttgaaaaccc gta
//
