Protein-coding gene in the species Homo sapiens
| GJD3 |
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| Identifiers |
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| Aliases | GJD3, CX31.9, Cx30.2, GJA11, GJC1, gap junction protein delta 3 |
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| External IDs | OMIM: 607425; MGI: 2384150; HomoloGene: 17530; GeneCards: GJD3; OMA:GJD3 - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 17 (human)[1] |
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| | Band | 17q21.2 | Start | 40,360,652 bp[1] |
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| End | 40,364,737 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 11 (mouse)[2] |
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| | Band | 11|11 D | Start | 98,873,006 bp[2] |
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| End | 98,873,842 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| 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
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| | Top expressed in | - spermatocyte
- spermatid
- testicle
- superior frontal gyrus
- neural tube
- circulatory system
- heart
- hippocampus proper
- rhombencephalon
- urinary bladder
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| 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 |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | | |
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| RefSeq (protein) | | |
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| Location (UCSC) | Chr 17: 40.36 – 40.36 Mb | Chr 11: 98.87 – 98.87 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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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
- ^ 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".
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.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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