LOCUS       NM_002060               1621 bp    mRNA    linear   PRI 28-AUG-2024
DEFINITION  Homo sapiens gap junction protein alpha 4 (GJA4), mRNA.
ACCESSION   NM_002060
VERSION     NM_002060.3
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 1621)
  AUTHORS   Pithova,P., Cichrova,M., Kvapil,M., Hubacek,J.A., Dlouha,D. and
            Pitha,J.
  TITLE     Determinants of vascular impairment in type 1 diabetes-impact of
            sex and connexin 37 gene polymorphism: A cross-sectional study
  JOURNAL   Cardiovasc Diabetol 23 (1), 309 (2024)
   PUBMED   39175027
  REMARK    GeneRIF: Determinants of vascular impairment in type 1
            diabetes-impact of sex and connexin 37 gene polymorphism: A
            cross-sectional study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1621)
  AUTHORS   Huo,R., Yang,Y., Xu,H., Zhao,S., Song,D., Weng,J., Ma,R., Sun,Y.,
            Wang,J., Jiao,Y., Zhang,J., He,Q., Wu,R., Wang,S., Zhao,J.Z.,
            Zhang,J., Wang,J. and Cao,Y.
  TITLE     Somatic GJA4 mutation in intracranial extra-axial cavernous
            hemangiomas
  JOURNAL   Stroke Vasc Neurol 8 (6), 453-462 (2023)
   PUBMED   37072338
  REMARK    GeneRIF: Somatic GJA4 mutation in intracranial extra-axial
            cavernous hemangiomas.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1621)
  AUTHORS   Acharya,B.R., Fang,J.S., Jeffery,E.D., Chavkin,N.W., Genet,G.,
            Vasavada,H., Nelson,E.A., Sheynkman,G.M., Humphries,M.J. and
            Hirschi,K.K.
  TITLE     Connexin 37 sequestering of activated-ERK in the cytoplasm promotes
            p27-mediated endothelial cell cycle arrest
  JOURNAL   Life Sci Alliance 6 (8), e202201685 (2023)
   PUBMED   37197981
  REMARK    GeneRIF: Connexin 37 sequestering of activated-ERK in the cytoplasm
            promotes p27-mediated endothelial cell cycle arrest.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1621)
  AUTHORS   Hongo,H., Miyawaki,S., Teranishi,Y., Mitsui,J., Katoh,H.,
            Komura,D., Tsubota,K., Matsukawa,T., Watanabe,M., Kurita,M.,
            Yoshimura,J., Dofuku,S., Ohara,K., Ishigami,D., Okano,A., Kato,M.,
            Hakuno,F., Takahashi,A., Kunita,A., Ishiura,H., Shin,M.,
            Nakatomi,H., Nagao,T., Goto,H., Takahashi,S.I., Ushiku,T.,
            Ishikawa,S., Okazaki,M., Morishita,S., Tsuji,S. and Saito,N.
  TITLE     Somatic GJA4 gain-of-function mutation in orbital cavernous venous
            malformations
  JOURNAL   Angiogenesis 26 (1), 37-52 (2023)
   PUBMED   35902510
  REMARK    GeneRIF: Somatic GJA4 gain-of-function mutation in orbital
            cavernous venous malformations.
REFERENCE   5  (bases 1 to 1621)
  AUTHORS   Chen,K.H., Huang,H.Y., Chen,T.C., Liu,Y.J., Lin,I.C., Ng,K.F.,
            Chuang,H.C. and Huang,S.C.
  TITLE     A clinicopathological reappraisal of orbital vascular malformations
            and distinctive GJA4 mutation in cavernous venous malformations
  JOURNAL   Hum Pathol 130, 79-87 (2022)
   PUBMED   36209871
  REMARK    GeneRIF: A clinicopathological reappraisal of orbital vascular
            malformations and distinctive GJA4 mutation in cavernous venous
            malformations.
            Review article
REFERENCE   6  (bases 1 to 1621)
  AUTHORS   Reed,K.E., Westphale,E.M., Larson,D.M., Wang,H.Z., Veenstra,R.D.
            and Beyer,E.C.
  TITLE     Molecular cloning and functional expression of human connexin37, an
            endothelial cell gap junction protein
  JOURNAL   J Clin Invest 91 (3), 997-1004 (1993)
   PUBMED   7680674
REFERENCE   7  (bases 1 to 1621)
  AUTHORS   Haefliger,J.A., Bruzzone,R., Jenkins,N.A., Gilbert,D.J.,
            Copeland,N.G. and Paul,D.L.
  TITLE     Four novel members of the connexin family of gap junction proteins.
            Molecular cloning, expression, and chromosome mapping
  JOURNAL   J Biol Chem 267 (3), 2057-2064 (1992)
   PUBMED   1370487
REFERENCE   8  (bases 1 to 1621)
  AUTHORS   Willecke,K., Jungbluth,S., Dahl,E., Hennemann,H., Heynkes,R. and
            Grzeschik,K.H.
  TITLE     Six genes of the human connexin gene family coding for gap
            junctional proteins are assigned to four different human
            chromosomes
  JOURNAL   Eur J Cell Biol 53 (2), 275-280 (1990)
   PUBMED   1964417
REFERENCE   9  (bases 1 to 1621)
  AUTHORS   Beyer,E.C., Paul,D.L. and Goodenough,D.A.
  TITLE     Connexin family of gap junction proteins
  JOURNAL   J Membr Biol 116 (3), 187-194 (1990)
   PUBMED   2167375
  REMARK    Review article
REFERENCE   10 (bases 1 to 1621)
  AUTHORS   Risek,B., Guthrie,S., Kumar,N. and Gilula,N.B.
  TITLE     Modulation of gap junction transcript and protein expression during
            pregnancy in the rat
  JOURNAL   J Cell Biol 110 (2), 269-282 (1990)
   PUBMED   1688855
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU103361.1, BC072389.1 and
            BC027889.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002060.2.
            
            Summary: This gene encodes a member of the connexin gene family.
            The encoded protein is a component of gap junctions, which are
            composed of arrays of intercellular channels that provide a route
            for the diffusion of low molecular weight materials from cell to
            cell. Mutations in this gene have been associated with
            atherosclerosis and a higher risk of myocardial infarction.
            [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 :: SRR5189664.63189.1,
                                           SRR3476690.817105.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000342280.5/ ENSP00000343676.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 AU103361.1         2-10
            10-1089             BC072389.1         1-1080
            1090-1201           BC027889.1         1078-1189
            1202-1621           BC072389.1         1193-1612
FEATURES             Location/Qualifiers
     source          1..1621
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..1621
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /note="gap junction protein alpha 4"
                     /db_xref="GeneID:2701"
                     /db_xref="HGNC:HGNC:4278"
                     /db_xref="MIM:121012"
     exon            1..70
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /inference="alignment:Splign:2.1.0"
     exon            71..1621
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /inference="alignment:Splign:2.1.0"
     CDS             88..1089
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /note="connexin-37; gap junction protein, alpha 4, 37kDa"
                     /codon_start=1
                     /product="gap junction alpha-4 protein"
                     /protein_id="NP_002051.2"
                     /db_xref="CCDS:CCDS30669.1"
                     /db_xref="GeneID:2701"
                     /db_xref="HGNC:HGNC:4278"
                     /db_xref="MIM:121012"
                     /translation="MGDWGFLEKLLDQVQEHSTVVGKIWLTVLFIFRILILGLAGESV
                     WGDEQSDFECNTAQPGCTNVCYDQAFPISHIRYWVLQFLFVSTPTLVYLGHVIYLSRR
                     EERLRQKEGELRALPAKDPQVERALAAVERQMAKISVAEDGRLRIRGALMGTYVASVL
                     CKSVLEAGFLYGQWRLYGWTMEPVFVCQRAPCPYLVDCFVSRPTEKTIFIIFMLVVGL
                     ISLVLNLLELVHLLCRCLSRGMRARQGQDAPPTQGTSSDPYTDQVFFYLPVGQGPSSP
                     PCPTYNGLSSSEQNWANLTTEERLASSRPPLFLDPPPQNGQKPPSRPSSSASKKQYV"
     regulatory      1600..1605
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /note="hexamer: AATAAA"
     polyA_site      1621
                     /gene="GJA4"
                     /gene_synonym="CX37"
                     /note="major polyA site"
ORIGIN      
        1 agcagggctc ccgcgggcgt cactccggcc atcgtcccca cctccacctg ggccgcccgg
       61 caggcaggcg acggaggccc gggagccatg ggtgactggg gcttcctgga gaagttgctg
      121 gaccaggtcc aggagcactc gaccgtggtg ggtaagatct ggctgacggt gctcttcatc
      181 ttccgcatcc tcatcctggg cctggccggc gagtcagtgt ggggtgacga gcaatcagat
      241 ttcgagtgta acacggccca gccaggctgc accaacgtct gctatgacca ggccttcccc
      301 atctcccaca tccgctactg ggtgctgcag ttcctcttcg tcagcacacc caccctggtc
      361 tacctgggcc atgtcattta cctgtctcgg cgagaagagc ggctgcggca gaaggagggg
      421 gagctgcggg cactgccggc caaggaccca caggtggagc gggcgctggc ggccgtagag
      481 cgtcagatgg ccaagatctc ggtggcagaa gatggtcgcc tgcgcatccg cggagcactg
      541 atgggcacct atgtcgccag tgtgctctgc aagagtgtgc tagaggcagg cttcctctat
      601 ggccagtggc gcctgtacgg ctggaccatg gagcccgtgt ttgtgtgcca gcgagcaccc
      661 tgcccctacc tcgtggactg ctttgtctct cgccccacgg agaagaccat cttcatcatc
      721 ttcatgttgg tggttggact catctccctg gtgcttaacc tgctggagtt ggtgcacctg
      781 ctgtgtcgct gcctcagccg ggggatgagg gcacggcaag gccaagacgc acccccgacc
      841 cagggcacct cctcagaccc ttacacggac caggtcttct tctacctccc cgtgggccag
      901 gggccctcat ccccaccatg ccccacctac aatgggctct catccagtga gcagaactgg
      961 gccaacctga ccacagagga gaggctggcg tcttccaggc cccctctctt cctggaccca
     1021 ccccctcaga atggccaaaa acccccaagt cgtcccagca gctctgcttc taagaagcag
     1081 tatgtataga ggcctgtggc ttatgtcacc caacagaggg gtcctgagaa gtctggctgc
     1141 ctgggatgcc ccctgccccc tcctggaagg ctctgcagag atgactgggc tggggaagca
     1201 ggtgcttgct ggccatggag cctcattgca agttgttctt gaacacctga ggccttcctg
     1261 gtgcccacca ggcactacgg cttcctctcc agaatgtggc tttgcctgag cacagacaga
     1321 gtcagcatgg aatgctcttg gccaagggta ctgggggccc tctggccttt tgcagctgat
     1381 ccagaggaac ccagagccaa cttaccccaa cctcacccta tggaacagtc acctgtgcgc
     1441 aggttgtcct caaaccctct cctcacagga aaaggcggat tgaggctgct gggtcagcct
     1501 tgatcgcaca gacagagctt gtgccggatt tggccctgtc aaggggactg gtgccttgtt
     1561 ttcatcactc cttcctagtt ctactgttca agcttctgaa ataaacagga cttgatcaca
     1621 a
//
