GJD3
Gap junction protein, delta 3, 31.9kDa | |||||||||||||
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Identifiers | |||||||||||||
Symbols | GJD3 ; CX31.9; Cx30.2; GJA11; GJC1 | ||||||||||||
External IDs | OMIM: 607425 MGI: 2384150 HomoloGene: 17530 IUPHAR: 722 GeneCards: GJD3 Gene | ||||||||||||
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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: 98.98 – 98.98 Mb | |||||||||||
PubMed search | |||||||||||||
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.[1]
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.[1]
References
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.
- 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. 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.
- 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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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