LOCUS       NP_065168                439 aa            linear   PRI 04-OCT-2024
DEFINITION  gap junction gamma-2 protein [Homo sapiens].
ACCESSION   NP_065168
VERSION     NP_065168.2
DBSOURCE    REFSEQ: accession 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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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  (residues 1 to 439)
  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 (residues 1 to 439)
  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 Mar 15, 2004 this sequence version replaced NP_065168.1.
            
            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##
FEATURES             Location/Qualifiers
     source          1..439
                     /organism="Homo sapiens"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1q42.13"
     Protein         1..439
                     /product="gap junction gamma-2 protein"
                     /note="connexin-47; connexin-46.6; gap junction alpha-12
                     protein; gap junction protein, gamma 2, 47kDa"
                     /calculated_mol_wt=46871
     Region          5..291
                     /region_name="Connexin"
                     /note="pfam00029"
                     /db_xref="CDD:459638"
     Site            26..46
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Site            79..99
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Region          108..178
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Site            217..237
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Site            266..286
                     /site_type="transmembrane region"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Region          364..439
                     /region_name="Disordered.
                     /evidence=ECO:0000256|SAM:MobiDB-lite"
                     /note="propagated from UniProtKB/Swiss-Prot (Q5T442.1)"
     Site            371
                     /site_type="phosphorylation"
                     /note="Phosphoserine.
                     /evidence=ECO:0000250|UniProtKB:Q8BQU6; propagated from
                     UniProtKB/Swiss-Prot (Q5T442.1)"
     CDS             1..439
                     /gene="GJC2"
                     /gene_synonym="CX46.6; Cx47; GJA12; HLD2; LMPH1C; LMPHM3;
                     PMLDAR; SPG44"
                     /coded_by="NM_020435.4:98..1417"
                     /db_xref="CCDS:CCDS1569.1"
                     /db_xref="GeneID:57165"
                     /db_xref="HGNC:HGNC:17494"
                     /db_xref="MIM:608803"
ORIGIN      
        1 mtnmswsflt rlleeihnhs tfvgkvwltv lvvfrivlta vggeaiysde qakftcntrq
       61 pgcdnvcyda faplshvrfw vfqivvistp svmylgyavh rlaraseqer rralrrrpgp
      121 rraprahlpp phagwpepad lgeeepmlgl geeeeeeetg aaegageeae eagaeeactk
      181 avgadgkaag tpgptgqhdg rrriqreglm rvyvaqlvar aafevaflvg qyllygfevr
      241 pffpcsrqpc phvvdcfvsr ptektvfllv myvvsclcll lnlcemahlg lgsaqdavrg
      301 rrgppasapa paprpppcaf paaaaglacp pdyslvvraa erarahdqnl anlalqalrd
      361 gaaagdrdrd sspcvglpaa srgppragap asrtgsatsa gtvgeqgrpg therpgakpr
      421 agsekgsass rdgkttvwi
//
