GJD3 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Identifiers | |||||||||||||||||||||||||||||||||||||||||||||||||||
Aliases | GJD3, CX31.9, Cx30.2, GJA11, GJC1, gap junction protein delta 3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607425 MGI: 2384150 HomoloGene: 17530 GeneCards: GJD3 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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]
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
- 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".
Further reading
- 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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