Gjb6 Gene Summary [Mouse]

Predicted to enable cytoskeletal protein binding activity and gap junction channel activity involved in cell communication by electrical coupling. Acts upstream of or within ear morphogenesis and sensory perception of sound. Located in gap junction. Is expressed in bladder; spiral ligament; urinary system; and urothelium of bladder. Used to study Clouston syndrome and autosomal recessive nonsyndromic deafness 1A. Human ortholog(s) of this gene implicated in Clouston syndrome; autosomal dominant nonsyndromic deafness 3B; autosomal recessive nonsyndromic deafness 1A; autosomal recessive nonsyndromic deafness 1B; and ectodermal dysplasia. Orthologous to human GJB6 (gap junction protein beta 6). [provided by Alliance of Genome Resources, Jul 2025]

Details

Type
Protein Coding
Official Symbol
Gjb6
Official Name
gap junction protein, beta 6 [Source:MGI Symbol;Acc:MGI:107588]
Ensembl ID
ENSMUSG00000040055
Bio databases IDs NCBI: 14623 Ensembl: ENSMUSG00000040055
Aliases gap junction protein, beta 6
Synonyms CX30, Cxnf, D14Bwg0506e, DFNA3, DFNA3B, DFNB1B, ECTD2, ED2, EDH, gap junction protein beta 6, gap junction protein, beta 6, gap junction protein β 6, gap junction protein, β 6, HED, HED2
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 Gjb6 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • beta-tubulin binding
  • actin filament binding
  • microtubule binding
  • Connexin homologues
  • Gap junction channel protein cysteine-rich domain
  • protein binding
  • transporter
  • Connexin
  • gap-junction forming channel

Pathways

Biological processes and signaling networks where the Gjb6 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
  • non-small cell lung cancer
  • edema
  • osteoarthritis
  • plasma cell myeloma
  • hereditary disorder
  • hidrotic ectodermal dysplasia syndrome
  • sensorineural hearing loss
  • Huntington disease
  • androgenic alopecia
  • astrocytosis
regulated by
regulates
role in cell
  • proliferation
  • activation
  • migration
  • quantity
  • thickness
  • assembly
  • formation
  • vacuolation in
  • organization
  • gap junctional intercellular communication in

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
  • cell junction
  • cellular membrane
  • actin filaments
  • apical membrane
  • gap junction plaques
  • gap junctions
  • axons

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the mouse Gjb6 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
  • negative regulation of cell proliferation
  • cell-cell signaling
  • sinoatrial node development
  • sensory perception of sound
  • cellular response to glucose stimulus
  • ear morphogenesis
  • cell communication by electrical coupling
  • gap junction assembly
  • response to lipopolysaccharide
  • response to electrical stimulus
  • maintenance of blood-brain barrier

Cellular Component

Where in the cell the gene product is active
  • gap junction
  • connexon complex
  • cell junction
  • actin filament
  • apical plasma membrane

Molecular Function

What the gene product does at the molecular level
  • actin filament binding
  • protein binding
  • beta-tubulin binding
  • gap junction channel activity
  • microtubule binding

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.