GJC3

GJC3
Identifiers
Aliases	GJC3, CX29, CX30.2, CX31.3, GJE1, gap junction protein gamma 3
External IDs	MGI: 2153041 HomoloGene: 15399 GeneCards: GJC3
Targeted by Drug
carbenoxolone, flufenamic acid, caprylic alcohol
Gene ontology Molecular function • protein homodimerization activity Cellular component • cell junction • connexin complex • plasma membrane • myelin sheath • membrane • integral component of membrane • gap junction Biological process • myelination • sensory perception of sound • cell communication Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	349149	118446
Ensembl	ENSG00000176402	ENSMUSG00000056966
UniProt	Q8NFK1	Q921C1
RefSeq (mRNA)	NM_181538	NM_080450
RefSeq (protein)	NP_853516.1	NP_536698.2
Location (UCSC)	Chr 7: 99.92 – 99.93 Mb	Chr 5: 137.95 – 137.96 Mb
PubMed search
Wikidata
View/Edit Human		View/Edit Mouse

Gap junction gamma-3, also known as connexin-29 (Cx29) or gap junction epsilon-1 (GJE1), is a protein that in humans is encoded by the GJC3 gene.

GJC3 is a conexin.

Function

This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells.

Clinical significance

Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.

Further reading

• Scherer SW, Cheung J, MacDonald JR, et al. (2003). "Human chromosome 7: DNA sequence and biology.". Science. 300 (5620): 767–72. doi:10.1126/science.1083423. PMC 2882961. PMID 12690205. 
• Hong HM, Yang JJ, Su CC, et al. (2010). "A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss.". Hum. Genet. 127 (2): 191–9. doi:10.1007/s00439-009-0758-y. PMID 19876648. 
• Ramchander PV, Panda KC, Panda AK (2010). "Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India.". Genet Test Mol Biomarkers. 14 (4): 539–41. doi:10.1089/gtmb.2010.0026. PMID 20632892. 
• Kleopa KA, Orthmann JL, Enriquez A, et al. (2004). "Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes.". Glia. 47 (4): 346–57. doi:10.1002/glia.20043. PMID 15293232. 
• Yang JJ, Wang WH, Lin YC, et al. (2010). "Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation.". Hum. Genet. 128 (3): 303–13. doi:10.1007/s00439-010-0856-x. PMID 20593197. 
• Strausberg RL, Feingold EA, Grouse LH, et al. (2002). "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. 
• 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. 
• Wang WH, Yang JJ, Lin YC, et al. (2010). "Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method.". Audiol. Neurootol. 15 (2): 81–7. doi:10.1159/000231633. PMID 19657183. 
• Altevogt BM, Kleopa KA, Postma FR, et al. (2002). "Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.". J. Neurosci. 22 (15): 6458–70. PMID 12151525. 
• Sargiannidou I, Ahn M, Enriquez AD, et al. (2008). "Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants.". Neurobiol. Dis. 30 (2): 221–33. doi:10.1016/j.nbd.2008.01.009. PMC 2704064. PMID 18353664.