LOCUS       NM_020435               2165 bp    mRNA    linear   PRI 04-OCT-2024
DEFINITION  Homo sapiens gap junction protein gamma 2 (GJC2), mRNA.
ACCESSION   NM_020435
VERSION     NM_020435.4
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 2165)
  AUTHORS   Abrams,C.K.
  TITLE     Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47
  JOURNAL   Biomolecules 13 (4), 712 (2023)
   PUBMED   37189458
  REMARK    GeneRIF: Mechanisms of Diseases Associated with Mutation in
            GJC2/Connexin 47.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2165)
  AUTHORS   Flores-Obando,R.E., Freidin,M.M., Hernandez,A.I. and Abrams,C.K.
  TITLE     Activation of the unfolded protein response by Connexin47 mutations
            associated with Pelizaeus-Merzbacher-like disease
  JOURNAL   Mol Cell Neurosci 120, 103716 (2022)
   PUBMED   35276347
  REMARK    GeneRIF: Activation of the unfolded protein response by Connexin47
            mutations associated with Pelizaeus-Merzbacher-like disease.
REFERENCE   3  (bases 1 to 2165)
  AUTHORS   Schneider,S., Kollges,R., Stegmann,J.D., Thieme,F., Hilger,A.C.,
            Waffenschmidt,L., Fazaal,J., Kalanithy,J.C., Geipel,A., Strizek,B.,
            Ludwig,K.U., Reutter,H. and Muller,A.
  TITLE     Resequencing of VEGFR3 pathway genes implicate GJC2 and FLT4 in the
            formation of primary congenital chylothorax
  JOURNAL   Am J Med Genet A 188 (5), 1607-1611 (2022)
   PUBMED   34994518
  REMARK    GeneRIF: Resequencing of VEGFR3 pathway genes implicate GJC2 and
            FLT4 in the formation of primary congenital chylothorax.
REFERENCE   4  (bases 1 to 2165)
  AUTHORS   Geng,X., Chen,L., Srinivasan,R.S., Kylat,R.J., Witte,M.H. and
            Erickson,R.J.
  TITLE     Lack of embryonic homozygous or adult heterozygous lymphatic
            phenotypes for a Sos1 mutation and lack of lymphatic embryonic
            phenotypes for a homozygous Cx47 mutation in mice
  JOURNAL   Lymphology 55 (3), 129-134 (2022)
   PUBMED   36446400
  REMARK    GeneRIF: Lack of embryonic homozygous or adult heterozygous
            lymphatic phenotypes for a Sos1 mutation and lack of lymphatic
            embryonic phenotypes for a homozygous Cx47 mutation in mice.
REFERENCE   5  (bases 1 to 2165)
  AUTHORS   Uhlenberg,B., Schuelke,M., Ruschendorf,F., Ruf,N., Kaindl,A.M.,
            Henneke,M., Thiele,H., Stoltenburg-Didinger,G., Aksu,F.,
            Topaloglu,H., Nurnberg,P., Hubner,C., Weschke,B. and Gartner,J.
  TITLE     Mutations in the gene encoding gap junction protein alpha 12
            (connexin 46.6) cause Pelizaeus-Merzbacher-like disease
  JOURNAL   Am J Hum Genet 75 (2), 251-260 (2004)
   PUBMED   15192806
  REMARK    Erratum:[Am J Hum Genet. 2004 Oct;5(4):737]
REFERENCE   6  (bases 1 to 2165)
  AUTHORS   Menichella,D.M., Goodenough,D.A., Sirkowski,E., Scherer,S.S. and
            Paul,D.L.
  TITLE     Connexins are critical for normal myelination in the CNS
  JOURNAL   J Neurosci 23 (13), 5963-5973 (2003)
   PUBMED   12843301
REFERENCE   7  (bases 1 to 2165)
  AUTHORS   Odermatt,B., Wellershaus,K., Wallraff,A., Seifert,G., Degen,J.,
            Euwens,C., Fuss,B., Bussow,H., Schilling,K., Steinhauser,C. and
            Willecke,K.
  TITLE     Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent
            protein reporter gene reveal predominant oligodendrocytic
            expression of Cx47 and display vacuolized myelin in the CNS
  JOURNAL   J Neurosci 23 (11), 4549-4559 (2003)
   PUBMED   12805295
REFERENCE   8  (bases 1 to 2165)
  AUTHORS   Nahhas,N., Conant,A., Orthmann-Murphy,J., Vanderver,A. and
            Hobson,G.
  TITLE     Pelizaeus-Merzbacher-Like Disease 1
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   29276893
REFERENCE   9  (bases 1 to 2165)
  AUTHORS   Vanderver,A., Tonduti,D., Schiffmann,R., Schmidt,J. and van der
            Knaap,M.S.
  TITLE     Leukodystrophy Overview - 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   24501781
REFERENCE   10 (bases 1 to 2165)
  AUTHORS   Hedera,P.
  TITLE     Hereditary Spastic Paraplegia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301682
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC089439.1 and AL359510.24.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_020435.3.
            
            Summary: This gene encodes a gap junction protein. Gap junction
            proteins are members of a large family of homologous connexins and
            comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic
            domains. This gene plays a key role in central myelination and is
            involved in peripheral myelination in humans. Defects in this gene
            are the cause of autosomal recessive Pelizaeus-Merzbacher-like
            disease-1. [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 :: BC089439.1, BC035840.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000366714.3/ ENSP00000355675.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1989              BC089439.1         217-2205
            1990-1990           AL359510.24        40723-40723
            1991-2165           BC089439.1         2207-2381
FEATURES             Location/Qualifiers
     source          1..2165
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     gene            1..2165
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /note="gap junction protein gamma 2"
                     /db_xref="GeneID:57165"
                     /db_xref="HGNC:HGNC:17494"
                     /db_xref="MIM:608803"
     exon            1..78
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /inference="alignment:Splign:2.1.0"
     exon            79..2165
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /inference="alignment:Splign:2.1.0"
     CDS             98..1417
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /note="connexin-47; connexin-46.6; gap junction alpha-12
                     protein; gap junction protein, gamma 2, 47kDa"
                     /codon_start=1
                     /product="gap junction gamma-2 protein"
                     /protein_id="NP_065168.2"
                     /db_xref="CCDS:CCDS1569.1"
                     /db_xref="GeneID:57165"
                     /db_xref="HGNC:HGNC:17494"
                     /db_xref="MIM:608803"
                     /translation="MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGE
                     AIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFWVFQIVVISTPSVMYLGYAVHRL
                     ARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG
                     AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLV
                     ARAAFEVAFLVGQYLLYGFEVRPFFPCSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSC
                     LCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAFPAAAAGLACPPDYS
                     LVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPAS
                     RTGSATSAGTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI"
     regulatory      2144..2149
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /note="hexamer: AATAAA"
     polyA_site      2165
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /note="major polyA site"
ORIGIN      
        1 acacaccctc ggggaggacc agcatccaag caggtggaag ggctctgagg gagactggaa
       61 ttttctggcc tggagaagga cccgcccgcc cgcccctatg accaacatga gctggagctt
      121 cctgacgcgg ctgctggagg agatccacaa ccactccacc ttcgtgggca aggtgtggct
      181 cacggtgctg gtggtcttcc gcatcgtgct gacggctgtg ggcggcgagg ccatctactc
      241 ggacgagcag gccaagttca cttgcaacac gcggcagcca ggctgcgaca acgtctgcta
      301 tgacgccttc gcgcccctgt cgcacgtgcg cttctgggtc ttccagattg tggtcatctc
      361 cacgccctcg gtcatgtacc tgggctacgc cgtgcaccgc ctggcccgtg cgtctgagca
      421 ggagcggcgc cgcgccctcc gccgccgccc ggggccacgc cgcgcgcccc gagcgcacct
      481 gccgcccccg cacgccggct ggcctgagcc cgccgacctg ggcgaggagg agcccatgct
      541 gggcctgggc gaggaggagg aggaggagga gacgggggca gccgagggcg ccggcgagga
      601 agcggaggag gcaggcgcgg aggaggcgtg cactaaggcg gtcggcgctg acggcaaggc
      661 ggcagggacc ccgggcccga ccgggcaaca cgatgggcgg aggcgcatcc agcgggaggg
      721 cctgatgcgc gtgtacgtgg cccagctggt ggccagggca gctttcgagg tggccttcct
      781 ggtgggccag tacctgctgt acggcttcga ggtgcgaccg ttctttccct gcagccgcca
      841 gccctgcccg cacgtggtgg actgcttcgt gtcgcgccct actgaaaaga cggtcttcct
      901 gctggttatg tacgtggtca gctgcctgtg cctgctgctc aacctctgtg agatggccca
      961 cctgggcttg ggcagcgcgc aggacgcggt gcgcggccgc cgcggccccc cggcctccgc
     1021 ccccgccccc gcgccgcggc ccccgccctg cgccttccct gcggcggccg ctggcttggc
     1081 ctgcccgccc gactacagcc tggtggtgcg ggcggccgag cgcgctcggg cgcatgacca
     1141 gaacctggca aacctggccc tgcaggcgct gcgcgacggg gcagcggctg gggaccgcga
     1201 ccgggacagt tcgccgtgcg tcggcctccc tgcggcctcc cgggggcccc ccagagcagg
     1261 cgcccccgcg tcccggacgg gcagtgctac ctctgcgggc actgtcgggg agcagggccg
     1321 gcccggcacc cacgagcggc caggagccaa gcccagggct ggctccgaga agggcagtgc
     1381 cagcagcagg gacgggaaga ccaccgtgtg gatctgaggg cgctggcttg cgagctgggc
     1441 cagggaggag gagggttggg gggctccggt ggaaacctgc gaccccttct cctcagcctt
     1501 ctccttagcc ggtggcctca ggcagactct gcccagaggg gcagccaggc tgctcaggga
     1561 aggggctgaa agcggcagag gagtgccctg gcttggtcac cactggggcc aaggtggggt
     1621 ggagagaggc ctaggagcca gaaagggccc tctgctgtgg tctgaacccc agggggagtg
     1681 gggcattgac tccacccctg tcctgagctg gaataggtcc tctgggatgc cagctctccc
     1741 ctttgtgctt ccctgcagca acccatggag ggcccagggt gcctggtatg ggcatcagtt
     1801 ggtgggggtg cgggggtgcg tgtccccatt ccctgcaaca gcaaatgggg ctccttcttc
     1861 agccctcccc ttcccagccc caaactgaga cagactggga gctgggagcc tggggtggac
     1921 aggaccatac cctctttgag cttctgcgat gccggccttc cgttcctctg ggaggcttga
     1981 agttctgcaa agatgttgat atgccttgca gcttggaccc aatgggtggt ggtcagggcc
     2041 tgggggcttg gccatgctgg gggaatgggg ctctgggttc ctgcctgtgg cctgtctgtc
     2101 ctcctcccta attcagaccc agcctcaaga ggaaagggag taaaataaaa ctaacttgtt
     2161 tataa
//
