Homo sapiens Gene: GJD2
Summary
InnateDB Gene IDBG-5653.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GJD2
Gene Name gap junction protein, delta 2, 36kDa
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000159248
Encoded Proteins
gap junction protein, delta 2, 36kDa
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene encodes a member of the connexin protein family. Connexins are gap junction proteins which are arranged in groups of 6 around a central pore to form a connexon, a component of the gap junction intercellular channel. The channels formed by this protein allow cationic molecule exchange between human beta cells and may function in the regulation of insulin secretion. [provided by RefSeq, Oct 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 15:34751032-34754965
Strand Reverse strand
Band q14
Transcripts
ENST00000290374 ENSP00000290374
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 0 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005243 gap junction channel activity
GO:0005515 protein binding
Biological Process
GO:0001508 action potential
GO:0007267 cell-cell signaling
GO:0007268 synaptic transmission
GO:0007601 visual perception
GO:0055085 transmembrane transport
Cellular Component
GO:0005886 plasma membrane
GO:0005922 connexon complex
GO:0016021 integral component of membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Electric Transmission Across Gap Junctions pathway
Neuronal System pathway
Transmission across Electrical Synapses pathway
Gap junction trafficking pathway
Gap junction assembly pathway
Gap junction trafficking and regulation pathway
Membrane Trafficking pathway
KEGG
Gap junction pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt Q9UKL4
TrEMBL
UniProt Splice Variant
Entrez Gene 57369
UniGene Hs.283816 Hs.578568
RefSeq NM_020660
HUGO HGNC:19154
OMIM 607058
CCDS CCDS10040
HPRD
IMGT
EMBL AB037509 AF153047 BC069339 BC112110 BC112114
GenPept AAD54234 AAH69339 AAI12111 AAI12115 BAA90429
RNA Seq Atlas 57369