LOCUS       NM_020660               2922 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens gap junction protein delta 2 (GJD2), mRNA.
ACCESSION   NM_020660
VERSION     NM_020660.3
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 2922)
  AUTHORS   Mao,W. and Chen,S.
  TITLE     Assembly mechanisms of the neuronal gap junction channel connexin
            36 elucidated by Cryo-EM
  JOURNAL   Arch Biochem Biophys 754, 109959 (2024)
   PUBMED   38490311
  REMARK    GeneRIF: Assembly mechanisms of the neuronal gap junction channel
            connexin 36 elucidated by Cryo-EM.
REFERENCE   2  (bases 1 to 2922)
  AUTHORS   St Clair,J.R., Westacott,M.J., Miranda,J., Farnsworth,N.L.,
            Kravets,V., Schleicher,W.E., Dwulet,J.M., Levitt,C.H., Heintz,A.,
            Ludin,N.W.F. and Benninger,R.K.P.
  TITLE     Restoring connexin-36 function in diabetogenic environments
            precludes mouse and human islet dysfunction
  JOURNAL   J Physiol 601 (18), 4053-4072 (2023)
   PUBMED   37578890
  REMARK    GeneRIF: Restoring connexin-36 function in diabetogenic
            environments precludes mouse and human islet dysfunction.
REFERENCE   3  (bases 1 to 2922)
  AUTHORS   Lee,S.N., Cho,H.J., Jeong,H., Ryu,B., Lee,H.J., Kim,M., Yoo,J.,
            Woo,J.S. and Lee,H.H.
  TITLE     Cryo-EM structures of human Cx36/GJD2 neuronal gap junction channel
  JOURNAL   Nat Commun 14 (1), 1347 (2023)
   PUBMED   36906653
  REMARK    GeneRIF: Cryo-EM structures of human Cx36/GJD2 neuronal gap
            junction channel.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2922)
  AUTHORS   Kunceviciene,E., Muskieta,T., Sriubiene,M., Liutkeviciene,R.,
            Smalinskiene,A., Grabauskyte,I., Insodaite,R., Juoceviciute,D. and
            Kucinskas,L.
  TITLE     Association of CX36 Protein Encoding Gene GJD2 with Refractive
            Errors
  JOURNAL   Genes (Basel) 13 (7), 1166 (2022)
   PUBMED   35885949
  REMARK    GeneRIF: Association of CX36 Protein Encoding Gene GJD2 with
            Refractive Errors.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2922)
  AUTHORS   van der Sande,E., Haarman,A.E.G., Quint,W.H., Tadema,K.C.D.,
            Meester-Smoor,M.A., Kamermans,M., De Zeeuw,C.I., Klaver,C.C.W.,
            Winkelman,B.H.J. and Iglesias,A.I.
  TITLE     The Role of GJD2(Cx36) in Refractive Error Development
  JOURNAL   Invest Ophthalmol Vis Sci 63 (3), 5 (2022)
   PUBMED   35262731
  REMARK    GeneRIF: The Role of GJD2(Cx36) in Refractive Error Development.
            Review article
REFERENCE   6  (bases 1 to 2922)
  AUTHORS   Degen,J., Meier,C., Van Der Giessen,R.S., Sohl,G.,
            Petrasch-Parwez,E., Urschel,S., Dermietzel,R., Schilling,K., De
            Zeeuw,C.I. and Willecke,K.
  TITLE     Expression pattern of lacZ reporter gene representing connexin36 in
            transgenic mice
  JOURNAL   J Comp Neurol 473 (4), 511-525 (2004)
   PUBMED   15116387
  REMARK    GeneRIF: Results of reporter gene analysis of Cx36 expression in
            transgenic mice suggest that Cx36 has functional roles not only in
            several types of neurons in the retina and central nervous system
            but also in excitable cells of the pancreas and adrenal gland.
REFERENCE   7  (bases 1 to 2922)
  AUTHORS   Bathelier,C., Francois,M. and Lucotte,G.
  TITLE     Neonatal detection of the 35delG mutation of the GJB2 gene in
            families at risk for deafness
  JOURNAL   Genet Couns 15 (1), 61-66 (2004)
   PUBMED   15083701
  REMARK    GeneRIF: 35delG mutation of the GJB2 gne is a risk for deafness
REFERENCE   8  (bases 1 to 2922)
  AUTHORS   Martin,D., Tawadros,T., Meylan,L., Abderrahmani,A.,
            Condorelli,D.F., Waeber,G. and Haefliger,J.A.
  TITLE     Critical role of the transcriptional repressor neuron-restrictive
            silencer factor in the specific control of connexin36 in
            insulin-producing cell lines
  JOURNAL   J Biol Chem 278 (52), 53082-53089 (2003)
   PUBMED   14565956
  REMARK    GeneRIF: connexin 36 expression is regulated by the transcriptional
            repressor NRSF/REST
REFERENCE   9  (bases 1 to 2922)
  AUTHORS   de Brouwer,A.P., Pennings,R.J., Roeters,M., Van Hauwe,P.,
            Astuto,L.M., Hoefsloot,L.H., Huygen,P.L., van den Helm,B.,
            Deutman,A.F., Bork,J.M., Kimberling,W.J., Cremers,F.P.,
            Cremers,C.W. and Kremer,H.
  TITLE     Mutations in the calcium-binding motifs of CDH23 and the 35delG
            mutation in GJB2 cause hearing loss in one family
  JOURNAL   Hum Genet 112 (2), 156-163 (2003)
   PUBMED   12522556
  REMARK    GeneRIF: Mutations in the calcium-binding motifs of CDH23 and the
            35delG mutation in GJB2 cause hearing loss in one family
REFERENCE   10 (bases 1 to 2922)
  AUTHORS   Belluardo,N., Trovato-Salinaro,A., Mudo,G., Hurd,Y.L. and
            Condorelli,D.F.
  TITLE     Structure, chromosomal localization, and brain expression of human
            Cx36 gene
  JOURNAL   J Neurosci Res 57 (5), 740-752 (1999)
   PUBMED   10462698
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC087457.5 and BC112110.1.
            
            On Nov 23, 2018 this sequence version replaced NM_020660.2.
            
            Summary: This gene encodes a member of the connexin protein family.
            Connexins are gap junction proteins which are arranged in groups of
            6 around a central pore to form a connexon, a component of the gap
            junction intercellular channel. The channels formed by this protein
            allow cationic molecule exchange between human beta cells and may
            function in the regulation of insulin secretion. [provided by
            RefSeq, Oct 2012].
            
            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 :: BC112110.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2144335, SAMEA2145544
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290374.5/ ENSP00000290374.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-417               AC087457.5         58235-58651         c
            418-842             BC112110.1         1-425
            843-843             AC087457.5         56764-56764         c
            844-1513            BC112110.1         427-1096
            1514-2922           AC087457.5         54685-56093         c
FEATURES             Location/Qualifiers
     source          1..2922
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q14"
     gene            1..2922
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /note="gap junction protein delta 2"
                     /db_xref="GeneID:57369"
                     /db_xref="HGNC:HGNC:19154"
                     /db_xref="MIM:607058"
     exon            1..581
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /inference="alignment:Splign:2.1.0"
     CDS             511..1476
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /note="connexin-36; gap junction alpha-9 protein; gap
                     junction protein, delta 2, 36kDa"
                     /codon_start=1
                     /product="gap junction delta-2 protein"
                     /protein_id="NP_065711.1"
                     /db_xref="CCDS:CCDS10040.1"
                     /db_xref="GeneID:57369"
                     /db_xref="HGNC:HGNC:19154"
                     /db_xref="MIM:607058"
                     /translation="MGEWTILERLLEAAVQQHSTMIGRILLTVVVIFRILIVAIVGET
                     VYDDEQTMFVCNTLQPGCNQACYDRAFPISHIRYWVFQIIMVCTPSLCFITYSVHQSA
                     KQRERRYSTVFLALDRDPPESIGGPGGTGGGGSGGGKREDKKLQNAIVNGVLQNTENT
                     SKETEPDCLEVKELTPHPSGLRTASKSKLRRQEGISRFYIIQVVFRNALEIGFLVGQY
                     FLYGFSVPGLYECNRYPCIKEVECYVSRPTEKTVFLVFMFAVSGICVVLNLAELNHLG
                     WRKIKLAVRGAQAKRKSIYEIRNKDLPRVSVPNFGRTQSSDSAYV"
     exon            582..2922
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2895..2900
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /note="hexamer: AATAAA"
     polyA_site      2922
                     /gene="GJD2"
                     /gene_synonym="CX36; GJA9"
                     /note="major polyA site"
ORIGIN      
        1 gcggatcccc gagcccagca ttcggctccg cgcgctcggc cctggcctcg caggctgccg
       61 cgccggagcg ccaggtgccc gctgaagtag caggaacaga gccggtgttc ggaccctccc
      121 ctggccccca acctgcggcg gagagcggcg ctgagacttc tcctgggcgg gcgagcgctg
      181 gaggacctgc aggctgccac cccgccccgc ccctcgtccc ggcgtccgcg ggatccagac
      241 ccgaaccccg gacggcgccc gaggttcgtg ccctctctct agaccgcgcc aactgcccca
      301 tcggtcggga cgcgcttgga tttctttccc catttcttct cttttaagta caataaaagg
      361 aaagggggat tcgaggattt tttaaaaaat tgcttcttta attgggaggc aattcactcc
      421 cattctggaa gtgcggcccg gggaggggcc aggagcggga acgtgcccgg tgctgcccag
      481 tctttgtctg ctgcctccgg atgcacagcg atgggggaat ggaccatctt ggagaggctg
      541 ctagaagccg cggtgcagca gcactccact atgatcggga ggatcctgtt gactgtggtg
      601 gtgatcttcc ggatcctcat tgtggccatt gtgggggaga cggtgtacga tgatgagcag
      661 accatgtttg tgtgcaacac cctgcagccc ggctgtaacc aggcctgcta tgaccgcgcc
      721 ttccccatct cccacatacg ttactgggtc ttccagatca taatggtgtg tacccccagt
      781 ctttgcttca tcacctactc tgtgcaccag tccgccaagc agcgagaacg ccgctactct
      841 acagtcttcc tagccctgga cagagacccc cctgagtcca taggaggtcc tggaggaact
      901 gggggtgggg gcagtggtgg gggcaaacga gaagataaga agttgcaaaa tgctattgtg
      961 aatggggtgc tgcagaacac agagaacacc agtaaggaga cagagccaga ttgtttagag
     1021 gttaaggagc tgactccaca cccatcaggt ctacgcactg catcaaaatc caagctcaga
     1081 aggcaggaag gcatctcccg cttctacatt atccaagtgg tgttccgaaa tgccctggaa
     1141 attgggttcc tggttggcca atattttctc tatggcttta gtgtcccagg gttgtatgag
     1201 tgtaaccgct acccctgcat caaggaggtg gaatgttatg tgtcccggcc aactgagaag
     1261 actgtctttc tagtgttcat gtttgctgta agtggcatct gtgttgtgct caacctggct
     1321 gaactcaacc acctgggatg gcgcaagatc aagctggctg tgcgaggggc tcaggccaag
     1381 agaaagtcaa tctatgagat tcgtaacaag gacctgccaa gggtcagtgt tcccaatttt
     1441 ggcaggactc agtccagtga ctctgcctat gtgtgagagg gcaggtttca tgaaggtctg
     1501 ggggatggca aggagcccca aggcagatga ctgctcagac gtggctgtat ccaccctcat
     1561 ttatgtgacc ctcaccatta agatgtagga taagactgga taaaagaaga ttttgcacca
     1621 atgggaaagg aggaaaagtg gacccatttt cacatatcac ctaattggtt ctacagagac
     1681 gattgggtag agtgatgaaa tggatcaatt agacttcttt ggtccctttc tgtttatggc
     1741 ctagcctgat cctgataaca ctgaacttgc acagctacca agtaggactt agccctgctg
     1801 agctctttat tctggtgaat ggtgtgagtt gagtacttca ttgatataaa atttgtgacc
     1861 tatctcaacc catcccttta tcctgagcca tgggacaaac atccttgagg cactcttcat
     1921 gtatctcccc caccagcatg cccctttccc tcaatccaaa atagcatgcc agcttttttt
     1981 tttttttttt ttttttttcc agaatctggc cttacattag acctaatatg ttttatttgc
     2041 aaacttagag ggaattacat ggggtgctta ttggagaacg gccatggcag aggttttcat
     2101 tagagcccca tctgactggc ccttagtcgt gatgaaaacc ttaggaatgt ctcaatattt
     2161 ccagttttct aactcaaact gcactggtgc tgtttactag ggatggggga tgggtgggag
     2221 ggagggaatt gcaatatgca actacaacac ttttgtgaga ttgttgttgc acagttaggc
     2281 acacggttac gagcttcagg atatttctgc cttccagctt gtggactttg gttaacatta
     2341 aaaagatttt ttttggctaa tatcaagagt gtctagctga gccacagcat ttgtaactgg
     2401 tgtatctcac tcattttctt acatagtttt gttgtgcaac acagctgcac ggtcattttg
     2461 ccatgatttg aatttacctg tgtgcttaca ccagagacct taatcatccc atgtcaatcc
     2521 tgatttatta ttttttcagt tactctttga aacacacaca catatacaga cacacataca
     2581 aaattactgg cttaaaagac ctgcaactaa acactattgg ctaacgtgtg tttacggtga
     2641 cttatttgag acatatacca aaggttcaaa aacctattgc attggactgt caatatgttt
     2701 tcttcttttt gctcttattt atttaagtgc catactgtac ctttcatatc cactgtgtat
     2761 ttagttaaaa tattggccaa gagaaacatc tgggtaatgt gcttttatga agccctttgt
     2821 tccctttgaa ttatcattat catttttgat ttagatatgg acatggtgta acacacaact
     2881 aaggatttgt ttaaaataaa gttcttgcct ttttttgtaa aa
//
