Version 5.4
Homo sapiens Gene: GJC2
Summary
InnateDB Gene IDBG-107204.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GJC2
Gene Name gap junction protein, gamma 2, 47kDa
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000198835
Encoded Proteins
IDBP-107206
gap junction protein, gamma 2, 47kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 1:228149852-228159826
Strand Forward strand
Band q42.13
Transcripts
ENST00000366714 ENSP00000355675
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 1 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 1 [view]
Protein-Protein 1 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
Biological Process
GO:0007267 cell-cell signaling
GO:0008219 cell death
GO:0009636 response to toxic substance
GO:0055085 transmembrane transport
Cellular Component
GO:0005921 gap junction
GO:0005922 connexon complex
GO:0016021 integral component of membrane
GO:0043209 myelin sheath
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000043448
View Gene Order
ENSBTAG00000014916
Not yet available
Pathways
NETPATH
REACTOME
REACT_9509
Gap junction assembly pathway
REACT_9411
Gap junction trafficking pathway
REACT_9480
Gap junction trafficking and regulation pathway
REACT_11123
Membrane Trafficking pathway
KEGG
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.100072 Hs.743715
RefSeq NM_020435
HUGO
OMIM
CCDS CCDS1569
HPRD 10582
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca