Gjb2 gap junction protein, beta 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Gjb2provided by MGI
Official Full Name: gap junction protein, beta 2provided by MGI
Primary source: MGI:MGI:95720
See related: Ensembl:ENSMUSG00000046352 AllianceGenome:MGI:95720
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Cx26; Cxne; Cnx26; Gjb-2
Summary: Enables gap junction channel activity. Involved in cell-cell signaling and gap junction-mediated intercellular transport. Acts upstream of or within gap junction assembly. Located in gap junction. Is integral component of plasma membrane. Part of connexin complex. Is expressed in several structures, including alimentary system; ear; genitourinary system; meninges; and skin. Used to study autosomal dominant keratitis-ichthyosis-deafness syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Bart-Pumphrey syndrome; Vohwinkel syndrome; autosomal dominant keratitis-ichthyosis-deafness syndrome; nonsyndromic deafness (multiple); and palmoplantar keratoderma-deafness syndrome. Orthologous to human GJB2 (gap junction protein beta 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in liver adult (RPKM 59.7), placenta adult (RPKM 35.5) and 8 other tissues See more
Orthologs: human all
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Genomic context

Location:: 14 C3; 14 30.1 cM

Exon count:: 2

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	14	NC_000080.7 (57336059..57342159, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	14	NC_000080.6 (57098602..57104702, complement)

Chromosome 14 - NC_000080.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Degradation of cochlear Connexin26 accelerate the development of age-related hearing loss.
Title: Degradation of cochlear Connexin26 accelerate the development of age-related hearing loss.
Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice.
Title: Antibody gene transfer treatment drastically improves epidermal pathology in a keratitis ichthyosis deafness syndrome model using male mice.
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.
Title: The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice.
Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.
Title: Cx26 heterozygous mutations cause hyperacusis-like hearing oversensitivity and increase susceptibility to noise.
Connexin26 mediates CO2-dependent regulation of breathing via glial cells of the medulla oblongata.
Title: Connexin26 mediates CO(2)-dependent regulation of breathing via glial cells of the medulla oblongata.
Platelet-Rich Plasma Modulates Gap Junction Functionality and Connexin 43 and 26 Expression During TGF-beta1-Induced Fibroblast to Myofibroblast Transition: Clues for Counteracting Fibrosis.
Title: Platelet-Rich Plasma Modulates Gap Junction Functionality and Connexin 43 and 26 Expression During TGF-β1-Induced Fibroblast to Myofibroblast Transition: Clues for Counteracting Fibrosis.
Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation.
Title: Hearing consequences in Gjb2 knock-in mice: implications for human p.V37I mutation.
Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Title: Inner Ear Connexin Channels: Roles in Development and Maintenance of Cochlear Function.
Actin-independent trafficking of cochlear connexin 26 to non-lipid raft gap junction plaques.
Title: Actin-independent trafficking of cochlear connexin 26 to non-lipid raft gap junction plaques.
The reduction of postnatal expression of cochlear Cx26 induces hearing loss in a dose-dependent manner.
Title: Reduced postnatal expression of cochlear Connexin26 induces hearing loss and affects the developmental status of pillar cells in a dose-dependent manner.

Submit: New GeneRIF Correction See all GeneRIFs (74)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3) 1 citation
Endonuclease-mediated (4)
Targeted (10) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH129172 (e-PCR)
- UniSTS:212480

M81445 (e-PCR)
- UniSTS:124987

Gjb2 (e-PCR), detects polymorphism
- UniSTS:502660

Gjb2 (e-PCR), detects polymorphism
- UniSTS:496773

AI325222 (e-PCR)
- UniSTS:186005

D14Mit83 (e-PCR), detects polymorphism
- UniSTS:127439

Gjb2 (e-PCR), detects polymorphism
- UniSTS:546791

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables calcium ion binding	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables gap junction channel activity	IDA Inferred from Direct Assay more info	PubMed
enables gap junction channel activity	ISO Inferred from Sequence Orthology more info
enables gap junction channel activity involved in cell communication by electrical coupling	ISO Inferred from Sequence Orthology more info
enables identical protein binding	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell communication	IEA Inferred from Electronic Annotation more info
involved_in cell-cell signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-cell signaling	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within gap junction assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in gap junction assembly	ISO Inferred from Sequence Orthology more info
involved_in gap junction-mediated intercellular transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in gap junction-mediated intercellular transport	IDA Inferred from Direct Assay more info	PubMed
involved_in gap junction-mediated intercellular transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within sensory perception of sound	IEA Inferred from Electronic Annotation more info
involved_in transmembrane transport	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
located_in anchoring junction	IEA Inferred from Electronic Annotation more info
located_in astrocyte projection	ISO Inferred from Sequence Orthology more info
located_in cell body	ISO Inferred from Sequence Orthology more info
located_in cell junction	ISO Inferred from Sequence Orthology more info
part_of connexin complex	IBA Inferred from Biological aspect of Ancestor more info
part_of connexin complex	IDA Inferred from Direct Assay more info	PubMed
part_of connexin complex	ISO Inferred from Sequence Orthology more info
located_in gap junction	IDA Inferred from Direct Assay more info	PubMed
located_in gap junction	ISO Inferred from Sequence Orthology more info
located_in lateral plasma membrane	ISO Inferred from Sequence Orthology more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: gap junction beta-2 protein

Names: connexin e; connexin-26; gap junction membrane channel protein beta 2

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.