InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: GJB6

Summary

InnateDB Gene

IDBG-13254.5

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

GJB6

Gene Name

gap junction protein, beta 6, 30kDa

Synonyms

CX30; DFNA3; DFNA3B; DFNB1B; ECTD2; ED2; EDH; HED; HED2

Species

Homo sapiens

Ensembl Gene

ENSG00000121742

Encoded Proteins

IDBP-13256

gap junction protein, beta 6, 30kDa

IDBP-13258

gap junction protein, beta 6, 30kDa

IDBP-229123

gap junction protein, beta 6, 30kDa

IDBP-229125

gap junction protein, beta 6, 30kDa

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 13:20221971-20232395

Strand

Reverse strand

Band

q12.11

Transcripts

ENST00000356192	ENSP00000348521
ENST00000241124	ENSP00000241124
ENST00000400066	ENSP00000382939
ENST00000400065	ENSP00000382938

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 5 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	5 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005515	protein binding

Biological Process

GO:0006915	apoptotic process
GO:0007154	cell communication
GO:0007568	aging
GO:0007605	sensory perception of sound
GO:0008285	negative regulation of cell proliferation
GO:0032496	response to lipopolysaccharide
GO:0042471	ear morphogenesis
GO:0048839	inner ear development
GO:0051602	response to electrical stimulus
GO:0071333	cellular response to glucose stimulus

Cellular Component

GO:0005829	cytosol
GO:0005921	gap junction
GO:0005922	connexon complex
GO:0016021	integral component of membrane
GO:0016324	apical plasma membrane

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000040055

View Gene Order

ENSBTAG00000038662

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

O95452

TrEMBL

A0A024RDS4

UniProt Splice Variant

Entrez Gene

10804

UniGene

Hs.511757

RefSeq

NM_001110220 NM_001110219 NM_001110221 NM_006783

HUGO

HGNC:4288

OMIM

604418

CCDS

CCDS9291

HPRD

05107

IMGT

EMBL

AJ005585 AK075247 AK289592 AL355984 AY297110 AY789474 AY789475 AY789476 BC038934 CH471075

GenPept

AAH38934 AAP51162 AAV67951 AAV67952 AAV67953 BAF82281 BAG52094 CAA06611 CAI14832 EAX08254 EAX08255 EAX08256 EAX08257 EAX08258

RNA Seq Atlas

10804