LOCUS       NM_153212               1444 bp    mRNA    linear   PRI 11-JUN-2024
DEFINITION  Homo sapiens gap junction protein beta 4 (GJB4), mRNA.
ACCESSION   NM_153212
VERSION     NM_153212.3
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 1444)
  AUTHORS   Muramatsu,J., Arihara,Y., Yoshida,M., Kubo,T., Nakamura,H.,
            Ishikawa,K., Fujita,H., Sugita,S., Konno,T., Kojima,T., Kawano,Y.,
            Kobune,M. and Takada,K.
  TITLE     Gap junction beta-4 accelerates cell cycle progression and
            metastasis through MET-AKT activation in pancreatic cancer
  JOURNAL   Cancer Sci 115 (5), 1564-1575 (2024)
   PUBMED   38342100
  REMARK    GeneRIF: Gap junction beta-4 accelerates cell cycle progression and
            metastasis through MET-AKT activation in pancreatic cancer.
REFERENCE   2  (bases 1 to 1444)
  AUTHORS   Okamoto,R., Goto,I., Nishimura,Y., Kobayashi,I., Hashizume,R.,
            Yoshida,Y., Ito,R., Kobayashi,Y., Nishikawa,M., Ali,Y., Saito,S.,
            Tanaka,T., Sawa,Y., Ito,M. and Dohi,K.
  TITLE     Gap junction protein beta 4 plays an important role in cardiac
            function in humans, rodents, and zebrafish
  JOURNAL   PLoS One 15 (10), e0240129 (2020)
   PUBMED   33048975
  REMARK    GeneRIF: Gap junction protein beta 4 plays an important role in
            cardiac function in humans, rodents, and zebrafish.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1444)
  AUTHORS   Adadey,S.M., Esoh,K.K., Quaye,O., Amedofu,G.K., Awandare,G.A. and
            Wonkam,A.
  TITLE     GJB4 and GJC3 variants in non-syndromic hearing impairment in Ghana
  JOURNAL   Exp Biol Med (Maywood) 245 (15), 1355-1367 (2020)
   PUBMED   32524838
  REMARK    GeneRIF: GJB4 and GJC3 variants in non-syndromic hearing impairment
            in Ghana.
REFERENCE   4  (bases 1 to 1444)
  AUTHORS   de Oliveira,R.T.G., Christofolini,D.M., Criado,P.R., Lacaz
            Martins,E., Kelsell,D. and Machado Filho,C.D.S.
  TITLE     Clinical variability of the GJB4:c.35G > A gene variant: a study of
            a large Brazilian erythrokeratodermia pedigree
  JOURNAL   Int J Dermatol 59 (6), 722-725 (2020)
   PUBMED   32311086
  REMARK    GeneRIF: Clinical variability of the GJB4:c.35G > A gene variant: a
            study of a large Brazilian erythrokeratodermia pedigree.
REFERENCE   5  (bases 1 to 1444)
  AUTHORS   Richard,G., Brown,N., Rouan,F., Van der Schroeff,J.G., Bijlsma,E.,
            Eichenfield,L.F., Sybert,V.P., Greer,K.E., Hogan,P., Campanelli,C.,
            Compton,J.G., Bale,S.J., DiGiovanna,J.J. and Uitto,J.
  TITLE     Genetic heterogeneity in erythrokeratodermia variabilis: novel
            mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype
            correlations
  JOURNAL   J Invest Dermatol 120 (4), 601-609 (2003)
   PUBMED   12648223
  REMARK    GeneRIF: the involvement of connexin gene 30.3 (GJB4) in the
            etiology of erythrokeratodermia variabilis
REFERENCE   6  (bases 1 to 1444)
  AUTHORS   Lopez-Bigas,N., Melchionda,S., Gasparini,P., Borragan,A.,
            Arbones,M.L. and Estivill,X.
  TITLE     A common frameshift mutation and other variants in GJB4 (connexin
            30.3): Analysis of hearing impairment families
  JOURNAL   Hum Mutat 19 (4), 458 (2002)
   PUBMED   11933201
  REMARK    GeneRIF: A common frameshift mutation and other variants in GJB4
            (connexin 30.3): Analysis of hearing impairment families
REFERENCE   7  (bases 1 to 1444)
  AUTHORS   Manthey,D., Banach,K., Desplantez,T., Lee,C.G., Kozak,C.A.,
            Traub,O., Weingart,R. and Willecke,K.
  TITLE     Intracellular domains of mouse connexin26 and -30 affect
            diffusional and electrical properties of gap junction channels
  JOURNAL   J Membr Biol 181 (2), 137-148 (2001)
   PUBMED   11420600
REFERENCE   8  (bases 1 to 1444)
  AUTHORS   Macari,F., Landau,M., Cousin,P., Mevorah,B., Brenner,S.,
            Panizzon,R., Schorderet,D.F., Hohl,D. and Huber,M.
  TITLE     Mutation in the gene for connexin 30.3 in a family with
            erythrokeratodermia variabilis
  JOURNAL   Am J Hum Genet 67 (5), 1296-1301 (2000)
   PUBMED   11017804
REFERENCE   9  (bases 1 to 1444)
  AUTHORS   Hennemann,H., Dahl,E., White,J.B., Schwarz,H.J., Lalley,P.A.,
            Chang,S., Nicholson,B.J. and Willecke,K.
  TITLE     Two gap junction genes, connexin 31.1 and 30.3, are closely linked
            on mouse chromosome 4 and preferentially expressed in skin
  JOURNAL   J Biol Chem 267 (24), 17225-17233 (1992)
   PUBMED   1512260
REFERENCE   10 (bases 1 to 1444)
  AUTHORS   Hacham-Zadeh,S. and Even-Paz,Z.
  TITLE     Erythrokeratodermia variabilis in a Jewish Kurdish family
  JOURNAL   Clin Genet 13 (5), 404-408 (1978)
   PUBMED   148984
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL121988.10 and AK057628.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Dec 12, 2018 this sequence version replaced NM_153212.2.
            
            Summary: This gene encodes a transmembrane connexin protein that is
            a component of gap junctions. Mutations in this gene have been
            associated with erythrokeratodermia variabilis, progressive
            symmetric erythrokeratoderma and hearing impairment. [provided by
            RefSeq, Dec 2009].
            
            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 :: AK057628.1, CV574426.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1966682, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000339480.3/ ENSP00000345868.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL121988.10        73014-73014         c
            2-1444              AK057628.1         1-1443
FEATURES             Location/Qualifiers
     source          1..1444
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p34.3"
     gene            1..1444
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /note="gap junction protein beta 4"
                     /db_xref="GeneID:127534"
                     /db_xref="HGNC:HGNC:4286"
                     /db_xref="MIM:605425"
     exon            1..49
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /inference="alignment:Splign:2.1.0"
     exon            50..1444
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /inference="alignment:Splign:2.1.0"
     CDS             372..1172
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /note="connexin 30.3; gap junction protein, beta 4,
                     30.3kDa"
                     /codon_start=1
                     /product="gap junction beta-4 protein"
                     /protein_id="NP_694944.1"
                     /db_xref="CCDS:CCDS383.1"
                     /db_xref="GeneID:127534"
                     /db_xref="HGNC:HGNC:4286"
                     /db_xref="MIM:605425"
                     /translation="MNWAFLQGLLSGVNKYSTVLSRIWLSVVFIFRVLVYVVAAEEVW
                     DDEQKDFVCNTKQPGCPNVCYDEFFPVSHVRLWALQLILVTCPSLLVVMHVAYREERE
                     RKHHLKHGPNAPSLYDNLSKKRGGLWWTYLLSLIFKAAVDAGFLYIFHRLYKDYDMPR
                     VVACSVEPCPHTVDCYISRPTEKKVFTYFMVTTAAICILLNLSEVFYLVGKRCMEIFG
                     PRHRRPRCRECLPDTCPPYVLSQGGHPEDGNSVLMKAGSAPVDAGGYP"
     regulatory      1423..1428
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /note="hexamer: AATAAA"
     polyA_site      1444
                     /gene="GJB4"
                     /gene_synonym="CX30.3; EKV; EKVP2"
                     /note="major polyA site"
ORIGIN      
        1 caaacagaca agcccaagga caaggaagca gctactggac ccaagaagga ataaggtaga
       61 ccctgatttt ggaacctgaa gaccaaagtg caagattagc tctgctactt ccatctgtgg
      121 accattgggc aggtatctct gggccttcac ttactctttg tgaaatgagg acaggggcaa
      181 tccctaccct accaagtcat tgggagtgaa gacatgatga cacggtgatt gtgaaaagat
      241 tttgtcaatc gcaccagcat taagggtgcc catctccagg ttcccccagg cctcaaggct
      301 cccaaggcct gagtgggcag gtagcaccca ggtatagacc ttccacgtgc agcacccagg
      361 acacagccag catgaactgg gcatttctgc agggcctgct gagtggcgtg aacaagtact
      421 ccacagtgct gagccgcatc tggctgtctg tggtgttcat ctttcgtgtg ctggtgtacg
      481 tggtggcagc ggaggaggtg tgggacgatg agcagaagga ctttgtctgc aacaccaagc
      541 agcccggctg ccccaacgtc tgctatgacg agttcttccc cgtgtcccac gtgcgcctct
      601 gggccctaca gctcatcctg gtcacgtgcc cctcactgct cgtggtcatg cacgtggcct
      661 accgcgagga acgcgagcgc aagcaccacc tgaaacacgg gcccaatgcc ccgtccctgt
      721 acgacaacct gagcaagaag cggggcggac tgtggtggac gtacttgctg agcctcatct
      781 tcaaggccgc cgtggatgct ggcttcctct atatcttcca ccgcctctac aaggattatg
      841 acatgccccg cgtggtggcc tgctccgtgg agccttgccc ccacactgtg gactgttaca
      901 tctcccggcc cacggagaag aaggtcttca cctacttcat ggtgaccaca gctgccatct
      961 gcatcctgct caacctcagt gaagtcttct acctggtggg caagaggtgc atggagatct
     1021 tcggccccag gcaccggcgg cctcggtgcc gggaatgcct acccgatacg tgcccaccat
     1081 atgtcctctc ccagggaggg caccctgagg atgggaactc tgtcctaatg aaggctgggt
     1141 cggccccagt ggatgcaggt gggtatccat aacctgcgag atcagcagat aagatcaaca
     1201 ggtccccccc acatgaggcc acccaggaaa aaaggcaggg gcagtggcat ccttgccgta
     1261 gcagggtggt gaggagggtg gctgtggggg ctcaggaagc tcgcccaggg gccaatgtgg
     1321 gaggttgggg gtagtttggt ccctgggtcc tgagcctcag gggagggagg ttgatagcta
     1381 ctggggattt tgtatatggc aacagtatat gtcaaacctc ttaataaata tgattttccc
     1441 agta
//
