Contents

GJD3

Protein-coding gene in the species Homo sapiens

GJD3
Identifiers
Aliases	GJD3, CX31.9, Cx30.2, GJA11, GJC1, gap junction protein delta 3
External IDs	OMIM: 607425; MGI: 2384150; HomoloGene: 17530; GeneCards: GJD3; OMA:GJD3 - orthologs
Gene location (Human) Chr. Chromosome 17 (human)[1] Band 17q21.2 Start 40,360,652 bp[1] End 40,364,737 bp[1]
Gene location (Mouse) Chr. Chromosome 11 (mouse)[2] Band 11|11 D Start 98,873,006 bp[2] End 98,873,842 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad apex of heart spleen mucosa of ileum stromal cell of endometrium left ventricle right lung gallbladder mucosa of transverse colon smooth muscle tissue Top expressed in spermatocyte embryo spermatid embryo primary visual cortex testicle Cortex of frontal lobe superior frontal gyrus neural tube striatum of neuraxis More reference expression data BioGPS n/a
Gene ontology Molecular function ion channel activity gap junction channel activity protein binding gap junction channel activity involved in cardiac conduction electrical coupling Cellular component integral component of membrane gap junction cell surface cell junction plasma membrane integral component of plasma membrane connexin complex membrane Biological process gap junction assembly cell communication ion transmembrane transport response to glucose transmembrane transport cell communication involved in cardiac conduction cell communication by electrical coupling involved in cardiac conduction Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 125111 353155 Ensembl ENSG00000183153 ENSMUSG00000047197 UniProt Q8N144 Q91YD1 RefSeq (mRNA) NM_152219 NM_178596 RefSeq (protein) NP_689343 NP_848711 Location (UCSC) Chr 17: 40.36 – 40.36 Mb Chr 11: 98.87 – 98.87 Mb PubMed search [3] [4]
Wikidata
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Gap junction delta-2 (GJD2), also known as connexin-36 (Cx36) or gap junction alpha-9 (GJA9), is a protein that in humans is encoded by the GJD2 gene.^[5]

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.^[5]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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