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

Last updated August 19, 2023

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]

Related Research Articles

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.

Gamma-crystallin D is a protein that in humans is encoded by the CRYGD gene.

Lens fiber major intrinsic protein also known as aquaporin-0 is a protein that in humans is encoded by the MIP gene.

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.

Beta-crystallin B1 is a protein that in humans is encoded by the CRYBB1 gene. Variants in CRYBB1 are associated with autosomal dominant congenital cataract.

Gamma-crystallin B is a protein that in humans is encoded by the CRYGB gene.

Beta-crystallin A3 is a protein that in humans is encoded by the CRYBA1 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.

Alpha-tectorin is a protein that in humans is encoded by the TECTA gene.

Sodium bicarbonate transporter-like protein 11 is a protein that in humans is encoded by the SLC4A11 gene.

Heat shock factor protein 4 is a protein that in humans is encoded by the HSF4 gene.

Nance-Horan syndrome protein is a protein that in humans is encoded by the NHS gene.

Oculodentodigital syndrome is an extremely rare genetic condition that typically results in small eyes, underdeveloped teeth, and syndactyly and malformation of the fourth and fifth fingers. It is considered a kind of ectodermal dysplasia.

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.

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-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.

Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000121743 - Ensembl, May 2017
1 2 3 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". Australian and New Zealand Journal of Ophthalmology. 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): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895 . PMID 12808044.

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. S2CID 44622463.
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.
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.
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.
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. doi: 10.1242/jcs.111.15.2109 . PMID 9664032.
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.
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. doi:10.1242/jcs.114.22.4013. PMID 11739633.
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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
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.
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.
Dunham A, Matthews LH, Burton J, et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature. 428 (6982): 522–8. Bibcode:2004Natur.428..522D. doi:10.1038/nature02379. PMC 2665288 . PMID 15057823.
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. doi:10.1136/jmg.2004.018333. PMC 1735867 . PMID 15286166.
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.
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.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000121743 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 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". Australian and New Zealand Journal of Ophthalmology. 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): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMC 194895 . PMID 12808044.

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GJA3

Contents

Interactions

Related Research Articles

References

Further reading