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
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
	spleen; ; stromal cell of endometrium; ; left ventricle; ; right lung; ; gallbladder; ; smooth muscle tissue; ; upper lobe of left lung; ; appendix; ; right lobe of thyroid gland; ; left lobe of thyroid gland;
	Top expressed in
	spermatocyte; ; spermatid; ; testicle; ; superior frontal gyrus; ; neural tube; ; circulatory system; ; heart; ; hippocampus proper; ; rhombencephalon; ; urinary bladder;
	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

Last updated October 14, 2022

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]

Related Research Articles

Gap junctions are specialized intercellular connections between a multitude of animal cell-types. They directly connect the cytoplasm of two cells, which allows various molecules, ions and electrical impulses to directly pass through a regulated gate between cells.

In biology, a connexon, also known as a connexin hemichannel, is an assembly of six proteins called connexins that form the pore for a gap junction between the cytoplasm of two adjacent cells. This channel allows for bidirectional flow of ions and signaling molecules. The connexon is the hemichannel supplied by a cell on one side of the junction; two connexons from opposing cells normally come together to form the complete intercellular gap junction channel. However, in some cells, the hemichannel itself is active as a conduit between the cytoplasm and the extracellular space, allowing the transference of ions and small molecules lower than 1-2 KDa. Little is known about this function of connexons besides the new evidence suggesting their key role in intracellular signaling.

<span class="mw-page-title-main">Connexin</span> Group of proteins which form the intermembrane channels of gap junctions

Connexins (Cx), or gap junction proteins, are structurally related transmembrane proteins that assemble to form vertebrate gap junctions. An entirely different family of proteins, the innexins, form gap junctions in invertebrates. Each gap junction is composed of two hemichannels, or connexons, which consist of homo- or heterohexameric arrays of connexins, and the connexon in one plasma membrane docks end-to-end with a connexon in the membrane of a closely opposed cell. The hemichannel is made of six connexin subunits, each of which consist of four transmembrane segments. Gap junctions are essential for many physiological processes, such as the coordinated depolarization of cardiac muscle, proper embryonic development, and the conducted response in microvasculature. For this reason, mutations in connexin-encoding genes can lead to functional and developmental abnormalities.

Gap junction alpha-1 protein (GJA1), also known as connexin 43 (Cx43), is a protein that in humans is encoded by the GJA1 gene on chromosome 6. As a connexin, GJA1 is a component of gap junctions, which allow for gap junction intercellular communication (GJIC) between cells to regulate cell death, proliferation, and differentiation. As a result of its function, GJA1 is implicated in many biological processes, including muscle contraction, embryonic development, inflammation, and spermatogenesis, as well as diseases, including oculodentodigital dysplasia (ODDD), heart malformations, and cancers.

Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene.

Gap junction alpha-5 protein (GJA5), also known as connexin 40 (Cx40) — is a protein that in humans is encoded by the GJA5 gene.

Gap junction beta-6 protein (GJB6), also known as connexin 30 (Cx30) — is a protein that in humans is encoded by the GJB6 gene. Connexin 30 (Cx30) is one of several gap junction proteins expressed in the inner ear. Mutations in gap junction genes have been found to lead to both syndromic and nonsyndromic deafness. Mutations in this gene are associated with Clouston syndrome.

Gap junction beta-3 protein (GJB3), also known as connexin 31 (Cx31) — is a protein that in humans is encoded by the GJB3 gene.

Gap junction alpha-4 protein, also known as Connexin-37 or Cx37, is a protein that in humans is encoded by the GJA4 gene. This protein, like other Connexin proteins, forms connections between cells known as gap junctions. Connexin 37 can be found in many tissues including the ovary, heart, and kidney.

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.

Gap junction gamma-1 protein (GJC1), also known as gap junction alpha-7 protein (GJA7) and connexin 45 (Cx45) — is a protein that in humans is encoded by the GJC1 gene.

Gap junction alpha-8 protein is a protein that in humans is encoded by the GJA8 gene. It is also known as connexin 50.

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.

Gap junction delta-4 protein (GJD4), also known as connexin-40.1 (Cx40.1), is a protein that in humans is encoded by the GJD4 gene.

Gap junction delta-2 protein (GJD2) also known as connexin-36 (Cx36) or gap junction alpha-9 protein (GJA9) is a protein that in humans is encoded by the GJD2 gene.

Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the GJC3 gene.

Gap junction gamma-2 (GJC2), also known as connexin-46.6 (Cx46.6) and connexin-47 (Cx47) and gap junction alpha-12 (GJA12), is a protein that in humans is encoded by the GJC2 gene.

Gap junction beta-7 protein (GJB7), also known as connexin-25 (Cx25), is a protein that in humans is encoded by the GJB7 gene.

Gap junction beta-5 protein (GJB5), also known as connexin-31.1 (Cx31.1), is a protein that in humans is encoded by the GJB5 gene.

Gap junction alpha-10 protein, also known as connexin-62 (Cx62), is a protein that in humans is encoded by the GJA10 gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000183153 - Ensembl, May 2017
1 2 3 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.
1 2 "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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000183153 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000047197 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] 1 2 "Entrez Gene: gap junction protein".

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GJD3

Contents

Function

Related Research Articles

References

Further reading