GJA3

GJA3
Identifiers
Aliases	GJA3, CTRCT14, CX46, CZP3, gap junction protein alpha 3
External IDs	OMIM: 121015 MGI: 95714 HomoloGene: 9670 GeneCards: GJA3
Gene location (Human)
Chr.	Chromosome 13 (human)
End	20,161,052 bp
Gene location (Mouse)
Chr.	Chromosome 14 (mouse)
End	57,295,557 bp
RNA expression pattern
	Top expressed in
	right ventricle; ; right atrium; ; secondary oocyte; ; right coronary artery; ; islet of Langerhans; ; placenta; ; left coronary artery; ; germinal epithelium; ; lower lobe of lung; ; kidney;
	Top expressed in
	renal corpuscle; ; atrioventricular valve; ; hair follicle; ; aortic valve; ; atrium; ; myocardium of ventricle; ; ciliary body; ; lip; ; interventricular septum; ; skin of abdomen;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	gap junction channel activity;
Cellular component	integral component of membrane; gap junction; cell junction; plasma membrane; connexin complex; membrane;
Biological process	cell communication; cell-cell signaling; transmembrane transport; visual perception;
	Sources:Amigo / QuickGO
Orthologs
	2700
	14611
	ENSG00000121743
	ENSMUSG00000048582
	Q9Y6H8
	Q64448
	NM_021954
	NM_001271623; NM_016975
	NP_068773
	NP_001258552; NP_058671
	Wikidata
View/Edit Human	View/Edit Mouse

Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.^[5]^[6]^[7]

Interactions

GJA3 has been shown to interact with Tight junction protein 1.^[8]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000121743 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000048582 – 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.
^ Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S (May 1999). "Connexin46 mutations in autosomal dominant congenital cataract". Am J Hum Genet. 64 (5): 1357–64. doi:10.1086/302383. PMC 1377871. PMID 10205266.
^ Rosenberg AM, Gole GA (Jul 1982). "Morning Glory Syndrome: a report of two cases". Aust J Ophthalmol. 9 (4): 263–5. doi:10.1111/j.1442-9071.1981.tb00919.x. PMID 7342922.
^ "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".
^ Nielsen, Peter A; Baruch Amos; Shestopalov Valery I; Giepmans Ben N G; Dunia Irene; Benedetti E Lucio; Kumar Nalin M (Jun 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6). United States: 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895. PMID 12808044. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. p. 574. ISBN 978-1-934115-46-6.
Hsieh CL, Kumar NM, Gilula NB, Francke U (1991). "Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes". Somat. Cell Mol. Genet. 17 (2): 191–200. doi:10.1007/BF01232976. PMID 1849321.
Willecke K; Jungbluth S; Dahl E; et al. (1991). "Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes". Eur. J. Cell Biol. 53 (2): 275–80. PMID 1964417. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Mackay D; Ionides A; Berry V; et al. (1997). "A new locus for dominant "zonular pulverulent" cataract, on chromosome 13". Am. J. Hum. Genet. 60 (6): 1474–8. doi:10.1086/515468. PMC 1716126. PMID 9199569. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Gong X; Li E; Klier G; et al. (1998). "Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice". Cell. 91 (6): 833–43. doi:10.1016/S0092-8674(00)80471-7. PMID 9413992. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Dunia I; Recouvreur M; Nicolas P; et al. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling". J. Cell. Sci. 111 (15): 2109–20. PMID 9664032. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Rees MI; Watts P; Fenton I; et al. (2000). "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)". Hum. Genet. 106 (2): 206–9. doi:10.1007/s004390051029. PMID 10746562. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Das Sarma J; Meyer RA; Wang F; et al. (2002). "Multimeric connexin interactions prior to the trans-Golgi network". J. Cell. Sci. 114 (Pt 22): 4013–24. PMID 11739633. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Schubert AL, Schubert W, Spray DC, Lisanti MP (2002). "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry. 41 (18): 5754–64. doi:10.1021/bi0121656. PMID 11980479.
Strausberg RL; Feingold EA; Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Nielsen PA; Baruch A; Shestopalov VI; et al. (2004). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMC 194895. PMID 12808044. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Jiang H; Jin Y; Bu L; et al. (2003). "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract". Mol. Vis. 9: 579–83. PMID 14627959. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Dunham A; Matthews LH; Burton J; et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. doi:10.1038/nature02379. PMC 2665288. PMID 15057823. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Bennett TM, Mackay DS, Knopf HL, Shiels A (2004). "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q". Mol. Vis. 10: 376–82. PMID 15208569.
Burdon KP; Wirth MG; Mackey DA; et al. (2004). "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance". J. Med. Genet. 41 (8): e106–e106. doi:10.1136/jmg.2004.018333. PMC 1735867. PMID 15286166. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Lin D, Lobell S, Jewell A, Takemoto DJ (2004). "Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma". Mol. Vis. 10: 688–95. PMID 15467523.
Gerhard DS; Wagner L; Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)
Devi RR, Reena C, Vijayalakshmi P (2006). "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population". Mol. Vis. 11: 846–52. PMID 16254549.
Addison PK; Berry V; Holden KR; et al. (2006). "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family". Mol. Vis. 12: 791–5. PMID 16885921. {{cite journal}}: Unknown parameter |name-list-format= ignored (|name-list-style= suggested) (help)

This article on a gene on human chromosome 13 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000121743 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000048582 – 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.

[pmid10205266-5] Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S (May 1999). "Connexin46 mutations in autosomal dominant congenital cataract". Am J Hum Genet. 64 (5): 1357–64. doi:10.1086/302383. PMC 1377871. PMID 10205266.

[pmid7342922-6] Rosenberg AM, Gole GA (Jul 1982). "Morning Glory Syndrome: a report of two cases". Aust J Ophthalmol. 9 (4): 263–5. doi:10.1111/j.1442-9071.1981.tb00919.x. PMID 7342922.

[entrez-7] "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa".

[pmid12808044-8] Nielsen, Peter A; Baruch Amos; Shestopalov Valery I; Giepmans Ben N G; Dunia Irene; Benedetti E Lucio; Kumar Nalin M (Jun 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell. 14 (6). United States: 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895. PMID 12808044. {{cite journal}}: Cite has empty unknown parameters: |laydate=, |laysource=, and |laysummary= (help)

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Interactions

References

Further reading