Gjb2 Gene Summary [Mouse]

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 and 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, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Gjb2
Official Name
gap junction protein, beta 2 [Source:MGI Symbol;Acc:MGI:95720]
Ensembl ID
ENSMUSG00000046352
Bio databases IDs NCBI: 14619 Ensembl: ENSMUSG00000046352
Aliases gap junction protein, beta 2
Synonyms BAPS, Cnx26, CX26, CXN-26, Cxne, DFNA3, DFNA3A, DFNB1, DFNB1A, gap junction protein beta 2, gap junction protein, beta 2, gap junction protein β 2, gap junction protein, β 2, HID, KID, NSRD1, PPK
Species
Mouse, Mus musculus
OrthologiesHumanRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse Gjb2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Connexin homologues
  • Gap junction channel protein cysteine-rich domain
  • transmembrane domain
  • calcium ion binding
  • protein binding
  • identical protein binding
  • transporter
  • Connexin
  • gap-junction forming channel

Pathways

Biological processes and signaling networks where the Gjb2 gene in mouse plays a role, providing insight into its function and relevance in health or disease.

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • breast cancer
  • familial nonsyndromic hearing impairment
  • autosomal dominant deafness type 3A
  • autosomal recessive deafness type 1A
  • autosomal dominant keratitis ichthyosis and deafness syndrome
  • autosomal recessive deafness
  • plaque psoriasis
  • sensorineural hearing loss
  • diabetes mellitus
  • GJB2-related disorder
regulated by
regulates
role in cell
  • growth
  • loss
  • cell death
  • apoptosis
  • cellular infiltration by
  • formation
  • monorden sensitivity
  • density
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • membrane fraction
  • cell junction
  • Cytoplasm
  • cell surface
  • perinuclear region
  • cellular membrane
  • Nucleus
  • vesicles
  • lysosome
  • cell-cell contacts
  • connexons
  • ER-to-Golgi intermediate compartment
  • lateral plasma membrane
  • perinucleolar compartments
  • gap junction plaques
  • gap junctions
  • perikaryon
  • astrocyte projections

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Gjb2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • transmembrane transport
  • inner ear development
  • response to progesterone stimulus
  • cell-cell signaling
  • decidualization
  • sensory perception of sound
  • response to retinoic acid
  • response to ischemia
  • cellular response to glucagon stimulus
  • cell communication by electrical coupling
  • response to estradiol stimulus
  • gap junction assembly
  • cellular response to oxidative stress
  • response to lipopolysaccharide
  • cellular response to dexamethasone stimulus

Cellular Component

Where in the cell the gene product is active
  • gap junction
  • lateral plasma membrane
  • connexon complex
  • perinuclear region of cytoplasm
  • cell body
  • endoplasmic reticulum-Golgi intermediate compartment
  • plasma membrane

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • protein binding
  • calcium ion binding
  • gap junction channel activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.