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GJC2 gap junction protein, gamma 2, 47kDa [ Homo sapiens (human) ]

Gene ID: 57165, updated on 13-Jan-2015
Official Symbol
GJC2provided by HGNC
Official Full Name
gap junction protein, gamma 2, 47kDaprovided by HGNC
Primary source
HGNC:HGNC:17494
See related
Ensembl:ENSG00000198835; HPRD:10582; MIM:608803; Vega:OTTHUMG00000039771
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; 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]
Orthologs
See GJC2 in MapViewer
Location:
1q42.13
Exon count:
2
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 1 NC_000001.11 (228149714..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 antisense RNA 1 (head to head) Neighboring gene IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Calcium Regulation in the Cardiac Cell, organism-specific biosystem (from WikiPathways)
    Calcium Regulation in the Cardiac Cell, organism-specific biosystemCalcium is a common signaling mechanism, as once it enters the cytoplasm it exerts allosteric regulatory affects on many enzymes and proteins. Calcium can act in signal transduction after influx resu...
  • Gap junction assembly, organism-specific biosystem (from REACTOME)
    Gap junction assembly, organism-specific biosystemThe assembly of gap junctions involves (1) synthesis of connexin polypeptides at endoplasmic reticulum membranes, (2) oligomerization into homomeric- and heteromeric gap junction connexons (hemi-chan...
  • Gap junction trafficking, organism-specific biosystem (from REACTOME)
    Gap junction trafficking, organism-specific biosystemGap junctions are intercellular communication channels formed from Cx (connexin) protein subunits (see Segretain and Falk 2004 and Evans et al. 2006 for comprehensive reviews). Connexins are transpor...
  • Gap junction trafficking and regulation, organism-specific biosystem (from REACTOME)
    Gap junction trafficking and regulation, organism-specific biosystemGap junctions are clusters of intercellular channels connecting adjacent cells and permitting the direct exchange of ions and small molecules between cells. These channels are composed of two hemicha...
  • Membrane Trafficking, organism-specific biosystem (from REACTOME)
    Membrane Trafficking, organism-specific biosystemThe secretory membrane system allows a cell to regulate delivery of newly synthesized proteins, carbohydrates, and lipids to the cell surface, a necessity for growth and homeostasis. The system is ma...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC105119

Gene Ontology Provided by GOA

Function Evidence Code Pubs
gap junction channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
cell-cell signaling 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
connexon complex IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
myelin sheath IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
gap junction gamma-2 protein
Names
gap junction gamma-2 protein
connexin-47
connexin-46.6
gap junction alpha-12 protein

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 

    Range
    4863..14975
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_020435.3NP_065168.2  gap junction gamma-2 protein

    See proteins identical to NP_065168.2

    Status: REVIEWED

    Source sequence(s)
    AL359510, BC089439
    Consensus CDS
    CCDS1569.1
    UniProtKB/Swiss-Prot
    Q5T442
    Related
    ENSP00000355675, OTTHUMP00000037763, ENST00000366714, OTTHUMT00000095985
    Conserved Domains (2) summary
    pfam00029
    Location:5109
    Connexin; Connexin
    pfam10582
    Location:223289
    Connexin_CCC; Gap junction channel protein cysteine-rich domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000001.11 

    Range
    228149714..228159826
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 

    Range
    229609739..229619848
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000133.1 

    Range
    198852444..198862502
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)