LOCUS       NM_001110219            2064 bp    mRNA    linear   PRI 06-DEC-2024
DEFINITION  Homo sapiens gap junction protein beta 6 (GJB6), transcript variant
            1, mRNA.
ACCESSION   NM_001110219
VERSION     NM_001110219.3
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 2064)
  AUTHORS   O'Shaughnessy,E.M., Duffy,W., Garcia-Vega,L., Hussey,K.,
            Burden,A.D., Zamiri,M. and Martin,P.E.
  TITLE     Dysregulation of Connexin Expression Plays a Pivotal Role in
            Psoriasis
  JOURNAL   Int J Mol Sci 22 (11), 6060 (2021)
   PUBMED   34199748
  REMARK    GeneRIF: Dysregulation of Connexin Expression Plays a Pivotal Role
            in Psoriasis.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2064)
  AUTHORS   Buonfiglio,P., Bruque,C.D., Luce,L., Giliberto,F., Lotersztein,V.,
            Menazzi,S., Paoli,B., Elgoyhen,A.B. and Dalamon,V.
  TITLE     GJB2 and GJB6 Genetic Variant Curation in an Argentinean
            Non-Syndromic Hearing-Impaired Cohort
  JOURNAL   Genes (Basel) 11 (10), 1233 (2020)
   PUBMED   33096615
  REMARK    GeneRIF: GJB2 and GJB6 Genetic Variant Curation in an Argentinean
            Non-Syndromic Hearing-Impaired Cohort.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2064)
  AUTHORS   Zhan,Y., Luo,S., Pi,Z. and Zhang,G.
  TITLE     A recurrent mutation of GJB6 in a big Chinese family with Hidrotic
            ectodermal dysplasia
  JOURNAL   Hereditas 157 (1), 34 (2020)
   PUBMED   32843087
  REMARK    GeneRIF: A recurrent mutation of GJB6 in a big Chinese family with
            Hidrotic ectodermal dysplasia.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2064)
  AUTHORS   Eggena,M., Targan,S.R., Iwanczyk,L., Vidrich,A., Gordon,L.K. and
            Braun,J.
  TITLE     Phage display cloning and characterization of an immunogenetic
            marker (perinuclear anti-neutrophil cytoplasmic antibody) in
            ulcerative colitis
  JOURNAL   J Immunol 156 (10), 4005-4011 (1996)
   PUBMED   8621942
REFERENCE   5  (bases 1 to 2064)
  AUTHORS   Kibar,Z., Der Kaloustian,V.M., Brais,B., Hani,V., Fraser,F.C. and
            Rouleau,G.A.
  TITLE     The gene responsible for Clouston hidrotic ectodermal dysplasia
            maps to the pericentromeric region of chromosome 13q
  JOURNAL   Hum Mol Genet 5 (4), 543-547 (1996)
   PUBMED   8845850
REFERENCE   6  (bases 1 to 2064)
  AUTHORS   Stoppini,M., Bellotti,V., Negri,A., Merlini,G., Garver,F. and
            Ferri,G.
  TITLE     Characterization of the two unique human anti-flavin monoclonal
            immunoglobulins
  JOURNAL   Eur J Biochem 228 (3), 886-893 (1995)
   PUBMED   7737190
REFERENCE   7  (bases 1 to 2064)
  AUTHORS   Smith,R.J.H. and Ranum,P.T.
  TITLE     Nonsyndromic Hearing Loss and Deafness, DFNA3 - RETIRED CHAPTER,
            FOR HISTORICAL REFERENCE ONLY
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301708
REFERENCE   8  (bases 1 to 2064)
  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
REFERENCE   9  (bases 1 to 2064)
  AUTHORS   Smith,R.J.H., Azaiez,H. and Booth,K.
  TITLE     GJB2-Related Autosomal Recessive Nonsyndromic Hearing Loss
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301449
REFERENCE   10 (bases 1 to 2064)
  AUTHORS   Mellerio,J. and Greenblatt,D.
  TITLE     Hidrotic Ectodermal Dysplasia 2
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301379
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from DN998505.1, BP227986.1,
            AK075247.1, CF453597.1 and BC038934.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_001110219.2.
            
            Summary: Gap junctions allow the transport of ions and metabolites
            between the cytoplasm of adjacent cells. They are formed by two
            hemichannels, made up of six connexin proteins assembled in groups.
            Each connexin protein has four transmembrane segments, two
            extracellular loops, a cytoplasmic loop formed between the two
            inner transmembrane segments, and the N- and C-terminus both being
            in the cytoplasm. The specificity of the gap junction is determined
            by which connexin proteins comprise the hemichannel. In the past,
            connexin protein names were based on their molecular weight,
            however the new nomenclature uses sequential numbers based on which
            form (alpha or beta) of the gap junction is present. This gene
            encodes one of the connexin proteins. Mutations in this gene have
            been found in some forms of deafness and in some families with
            hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (1) represents the longest
            transcript. All variants encode the same protein.
            
            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 :: SRR3476690.232839.1,
                                           SRR1660807.230555.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2147596 [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000647029.1/ ENSP00000493834.1
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 DN998505.1         79-80
            3-92                BP227986.1         1-90
            93-1474             AK075247.1         1-1382
            1475-1942           CF453597.1         319-786
            1943-2064           BC038934.1         1646-1767
FEATURES             Location/Qualifiers
     source          1..2064
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="13"
                     /map="13q12.11"
     gene            1..2064
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /note="gap junction protein beta 6"
                     /db_xref="GeneID:10804"
                     /db_xref="HGNC:HGNC:4288"
                     /db_xref="MIM:604418"
     exon            1..126
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /inference="alignment:Splign:2.1.0"
     exon            127..250
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /inference="alignment:Splign:2.1.0"
     exon            251..360
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /inference="alignment:Splign:2.1.0"
     exon            361..530
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /inference="alignment:Splign:2.1.0"
     exon            531..2064
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /inference="alignment:Splign:2.1.0"
     CDS             546..1331
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /note="ectodermal dysplasia 2, hidrotic (Clouston
                     syndrome); connexin 30; gap junction protein, beta 6,
                     30kDa"
                     /codon_start=1
                     /product="gap junction beta-6 protein"
                     /protein_id="NP_001103689.1"
                     /db_xref="CCDS:CCDS9291.1"
                     /db_xref="GeneID:10804"
                     /db_xref="HGNC:HGNC:4288"
                     /db_xref="MIM:604418"
                     /translation="MDWGTLHTFIGGVNKHSTSIGKVWITVIFIFRVMILVVAAQEVW
                     GDEQEDFVCNTLQPGCKNVCYDHFFPVSHIRLWALQLIFVSTPALLVAMHVAYYRHET
                     TRKFRRGEKRNDFKDIEDIKKQKVRIEGSLWWTYTSSIFFRIIFEAAFMYVFYFLYNG
                     YHLPWVLKCGIDPCPNLVDCFISRPTEKTVFTIFMISASVICMLLNVAELCYLLLKVC
                     FRRSKRAQTQKNHPNHALKESKQNEMNELISDSGQNAITGFPS"
     regulatory      2033..2038
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /note="hexamer: AATAAA"
     polyA_site      2064
                     /gene="GJB6"
                     /gene_synonym="CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2;
                     EDH; HED; HED2"
                     /note="major polyA site"
ORIGIN      
        1 gccttcaccc gaaacccgac gagagcccga cagccggcgg cgcccgagcc cgacctgcct
       61 gcccagccgg agcgaagggc gccgccccgc gcagagcccg cgccagggcc gccggccgca
      121 gagcagttaa aacgtgcagg caccagaagg cacttcctgt cggtgaagaa gacctgtctc
      181 cggtgtcacg ggcatcctgt gttttgcaaa cggggctgac ctcccttcct ggggagcagg
      241 aagggtcagg gaaggaaaag aagtacagaa gatctggcta aacaatttct gtatggcgaa
      301 agaaaaattc taacttgtac gccctcttca tgcatcttta attcaatttg aatattccag
      361 gcgacatcct cactgaccga gcaaagattg acattcgtat catcactgtg caccattggc
      421 ttctaggcac tccagtgggg taggagaagg aggtctgaaa ccctcgcaga gggatcttgc
      481 cctcattctt tgggtctgaa acactggcag tcgttggaaa caggactcag ggataaacca
      541 gcgcaatgga ttgggggacg ctgcacactt tcatcggggg tgtcaacaaa cactccacca
      601 gcatcgggaa ggtgtggatc acagtcatct ttattttccg agtcatgatc ctcgtggtgg
      661 ctgcccagga agtgtggggt gacgagcaag aggacttcgt ctgcaacaca ctgcaaccgg
      721 gatgcaaaaa tgtgtgctat gaccactttt tcccggtgtc ccacatccgg ctgtgggccc
      781 tccagctgat cttcgtctcc accccagcgc tgctggtggc catgcatgtg gcctactaca
      841 ggcacgaaac cactcgcaag ttcaggcgag gagagaagag gaatgatttc aaagacatag
      901 aggacattaa aaagcagaag gttcggatag aggggtcgct gtggtggacg tacaccagca
      961 gcatcttttt ccgaatcatc tttgaagcag cctttatgta tgtgttttac ttcctttaca
     1021 atgggtacca cctgccctgg gtgttgaaat gtgggattga cccctgcccc aaccttgttg
     1081 actgctttat ttctaggcca acagagaaga ccgtgtttac catttttatg atttctgcgt
     1141 ctgtgatttg catgctgctt aacgtggcag agttgtgcta cctgctgctg aaagtgtgtt
     1201 ttaggagatc aaagagagca cagacgcaaa aaaatcaccc caatcatgcc ctaaaggaga
     1261 gtaagcagaa tgaaatgaat gagctgattt cagatagtgg tcaaaatgca atcacaggtt
     1321 tcccaagcta aacatttcaa ggtaaaatgt agctgcgtca taaggagact tctgtcttct
     1381 ccagaaggca ataccaacct gaaagttcct tctgtagcct gaagagtttg taaatgactt
     1441 tcataataaa tagacacttg agttaacttt ttgtaggata cttgctccat tcatacacaa
     1501 cgtaatcaaa tatgtggtcc atctctgaaa acaagagact gcttgacaaa ggagcattgc
     1561 agtcactttg acaggttcct tttaagtgga ctctctgaca aagtgggtac tttctgaaaa
     1621 tttatataac tgttgttgat aaggaacatt tatccaggaa ttgatacgtt tattaggaaa
     1681 agatattttt ataggcttgg atgtttttag ttctgacttt gaatttatat aaagtatttt
     1741 tataatgact ggtcttcctt acctggaaaa acatgcgatg ttagttttag aattacacca
     1801 caagtatcta aatttggaac ttacaaaggg tctatcttgt aaatattgtt ttgcattgtc
     1861 tgttggcaaa tttgtgaact gtcatgatac gcttaaggtg gaaagtgttc attgcacaat
     1921 atatttttac tgctttctga atgtagacgg aacagtgtgg aagcagaagg cttttttaac
     1981 tcatccgttt gccaatcatt gcaaacaact gaaatgtgga tgtgattgcc tcaataaagc
     2041 tcgtccccat tgcttaagcc ttca
//
