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

Gene ID: 57165, updated on 12-Aug-2022

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; AllianceGenome:HGNC:17494
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
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Genomic context

See GJC2 in Genome Data Viewer
Location:
1q42.13
Exon count:
2
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (228149930..228159826)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (227338927..227348822)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (228337631..228347527)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ribosomal protein S28 pseudogene 3 Neighboring gene guanylate kinase 1 Neighboring gene uncharacterized LOC124904534 Neighboring gene IBA57 divergent transcript Neighboring gene iron-sulfur cluster assembly factor IBA57 Neighboring gene Sharpr-MPRA regulatory region 12629

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

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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, Q8IWJ9
    UniProtKB/TrEMBL
    A0A654IBV7
    Related
    ENSP00000355675.2, ENST00000366714.3
    Conserved Domains (1) summary
    pfam00029
    Location:5291
    Connexin

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

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

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060925.1 Alternate T2T-CHM13v2.0

    Range
    227338927..227348822
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)