GJD3

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)
End	40,364,737 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	98,873,842 bp
RNA expression pattern
	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
	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
	125111
	353155
	ENSG00000183153
	ENSMUSG00000047197
	Q8N144
	Q91YD1
	NM_152219
	NM_178596
	NP_689343
	NP_848711
	Wikidata
View/Edit Human	View/Edit Mouse

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]

Function

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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000183153 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000047197 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: gap junction protein".

White TW, Srinivas M, Ripps H, et al. (2002). "Virtual cloning, functional expression, and gating analysis of human connexin31.9". Am. J. Physiol., Cell Physiol. 283 (3): C960–70. doi:10.1152/ajpcell.00163.2002. PMID 12176752.
Gemel J, Lin X, Collins R, et al. (2008). "Cx30.2 can form heteromeric gap junction channels with other cardiac connexins". Biochem. Biophys. Res. Commun. 369 (2): 388–94. doi:10.1016/j.bbrc.2008.02.040. PMC 2323682. PMID 18291099.
Belluardo N, White TW, Srinivas M, et al. (2001). "Identification and functional expression of HCx31.9, a novel gap junction gene". Cell Commun. Adhes. 8 (4–6): 173–8. doi:10.3109/15419060109080719. PMID 12064584. S2CID 13136344.
Bukauskas FF, Kreuzberg MM, Rackauskas M, et al. (2006). "Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels: implications for atrioventricular conduction in the heart". Proc. Natl. Acad. Sci. U.S.A. 103 (25): 9726–31. Bibcode:2006PNAS..103.9726B. doi:10.1073/pnas.0603372103. PMC 1480474. PMID 16772377.
Söhl G, Nielsen PA, Eiberger J, Willecke K (2003). "Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues". Cell Commun. Adhes. 10 (1): 27–36. doi:10.1080/15419060302063. PMID 12881038. S2CID 225894.
Kreuzberg MM, Liebermann M, Segschneider S, et al. (2009). "Human connexin31.9, unlike its orthologous protein connexin30.2 in the mouse, is not detectable in the human cardiac conduction system". J. Mol. Cell. Cardiol. 46 (4): 553–9. doi:10.1016/j.yjmcc.2008.12.007. PMID 19168070.
Unsworth HC, Aasen T, McElwaine S, Kelsell DP (2007). "Tissue-specific effects of wild-type and mutant connexin 31: a role in neurite outgrowth". Hum. Mol. Genet. 16 (2): 165–72. doi:10.1093/hmg/ddl452. PMID 17142249.
Nielsen PA, Beahm DL, Giepmans BN, et al. (2002). "Molecular cloning, functional expression, and tissue distribution of a novel human gap junction-forming protein, connexin-31.9. Interaction with zona occludens protein-1". J. Biol. Chem. 277 (41): 38272–83. doi:10.1074/jbc.M205348200. PMID 12154091.