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GJC2 gap junction protein gamma 2 [ Homo sapiens (human) ]

Gene ID: 57165, updated on 4-Jun-2020

Summary

Official Symbol
GJC2provided by HGNC
Official Full Name
gap junction protein gamma 2provided by HGNC
Primary source
HGNC:HGNC:17494
See related
Ensembl:ENSG00000198835 MIM:608803
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
Cx47; HLD2; GJA12; SPG44; CX46.6; LMPH1C; LMPHM3; PMLDAR
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]
Expression
Broad expression in brain (RPKM 4.2), endometrium (RPKM 1.5) and 19 other tissues See more
Orthologs

Genomic context

See GJC2 in Genome Data Viewer
Location:
1q42.13
Exon count:
2
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (228149930..228159826)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228337415..228347527)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene guanylate kinase 1 Neighboring gene IBA57 divergent transcript Neighboring gene iron-sulfur cluster assembly factor IBA57

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC105119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction channel activity involved in cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
brain development IEA
Inferred from Electronic Annotation
more info
 
cell communication by electrical coupling IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell-cell signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of G1/S transition of mitotic cell cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of calcium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
positive regulation of gene expression IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oligodendrocyte progenitor proliferation IEA
Inferred from Electronic Annotation
more info
 
regulation of protein phosphorylation IEA
Inferred from Electronic Annotation
more info
 
response to toxic substance IEA
Inferred from Electronic Annotation
more info
 
transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
connexin complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
gap junction IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
paranode region of axon IEA
Inferred from Electronic Annotation
more info
 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
proximal neuron projection IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
gap junction gamma-2 protein
Names
connexin-46.6
connexin-47
gap junction alpha-12 protein
gap junction protein, gamma 2, 47kDa

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011838.1 RefSeqGene

    Range
    5079..14975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020435.4NP_065168.2  gap junction gamma-2 protein

    See identical proteins and their annotated locations for NP_065168.2

    Status: REVIEWED

    Source sequence(s)
    AL359510, BC089439
    Consensus CDS
    CCDS1569.1
    UniProtKB/Swiss-Prot
    Q5T442
    Related
    ENSP00000355675.2, ENST00000366714.3
    Conserved Domains (3) summary
    smart00037
    Location:4678
    CNX; Connexin homologues
    smart01089
    Location:223289
    Connexin_CCC; Gap junction channel protein cysteine-rich domain
    pfam00029
    Location:5290
    Connexin; Connexin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    228149930..228159826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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