GJD3 Gene Summary [Human]

This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
GJD3
Official Name
gap junction protein delta 3 [Source:HGNC Symbol;Acc:HGNC:19147]
Ensembl ID
ENSG00000183153
Bio databases IDs NCBI: 125111 Ensembl: ENSG00000183153
Aliases gap junction protein delta 3, connexin 31.9
Synonyms Cx30.2, CX31.9, Cxnr, gap junction protein delta 3, gap junction protein, delta 3, gap junction protein δ 3, gap junction protein, δ 3, GJA11, GJC1
Species
Human, Homo sapiens
OrthologiesMouseRat

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 human GJD3 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
  • protein binding
  • ion channel
  • transporter
  • Connexin
  • gap-junction forming channel

Pathways

Biological processes and signaling networks where the GJD3 gene in human 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
  • androgenic alopecia
  • idiopathic inflammatory myopathy
regulated by
role in cell
  • assembly
  • communication

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 surface
  • gap junction plaques
  • gap junctions

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human GJD3 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • response to glucose stimulus
  • cell communication
  • ion transmembrane transport
  • cell-cell signaling
  • gap junction assembly
  • negative regulation of heart rate
  • AV node cell to bundle of His cell communication by electrical coupling
  • cell communication involved in cardiac conduction

Cellular Component

Where in the cell the gene product is active
  • connexon complex
  • plasma membrane
  • cell surface

Molecular Function

What the gene product does at the molecular level
  • ion channel activity
  • gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
  • protein binding
  • gap junction channel activity involved in cardiac conduction electrical coupling

Gene-Specific Assays for Results You Can Trust

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