GJC3

Gap junction protein, gamma 3, 30.2kDa

Identifiers

GJC3 ; CX29; CX30.2; CX31.3; GJE1

External IDs

OMIM: 611925 MGI: 2153041 HomoloGene: 15399 IUPHAR: 718 GeneCards: GJC3 Gene

Gene ontology
Molecular function	• protein homodimerization activity
Cellular component	• connexon complex • integral to membrane • myelin sheath
Biological process	• sensory perception of sound • myelination
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
99.52 – 99.53 Mb

Chr 5:
137.95 – 137.96 Mb

PubMed search

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.^[1]

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.^[1]

Clinical significance

Mutations in this gene have been reported to be associated with nonsyndromic hearing loss.^[1]

References

↑ 1.0 1.1 1.2 "Entrez Gene: gap junction protein".

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.
SÃ¶hl 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.

Membrane transport protein: ion channels (TC 1A)

Ca²⁺: Calcium channel

Ligand-gated	Inositol trisphosphate receptor 1 2 3 Ryanodine receptor 1 2 3

Voltage-gated	L-type/Ca_vα 1.1 1.2 1.3 1.4 N-type/Ca_vα2.2 P-type/Ca_vα 2.1 Q-type/Ca_vα2.1 R-type/Ca_vα2.3 T-type/Ca_vα 3.1 3.2 3.3 α₂δ-subunits 1 2 β-subunits β1 β2 β3 β4 γ-subunits γ1 γ2 γ3 γ4 Cation channels of sperm 1 2 3 4 Two-pore channel 1 2

Na⁺: Sodium channel

Constitutively active	Epithelial sodium channel α β γ δ

Proton-gated	Amiloride-sensitive cation channel 1 2 3 4

Voltage-gated	Na_vα 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 1.9 7A Na_vβ 1 2 3 4

K⁺: Potassium channel

Calcium-activated	BK channel α1 β1 β2 β3 β4 SK channel SK1 SK2 SK3 IK channel IK1 K_Ca 1.1 2.1 2.2 2.3 3.1 4.1 4.2 5.1

Inward-rectifier	K_ATP K_ir 1.1 2.1 2.2 2.3 2.4 2.6 GIRK/K_ir 3.1 3.2 3.3 3.4 K_ir 4.1 4.2 5.1 6.1 6.2 7.1

Tandem pore domain	K2P 1 2 3 4 5 6 7 9 10 12 13 15 16 17 18

Voltage-gated	K_vα1-6 1.1 1.2 1.3 1.4 1.5 1.6 1.7 1.8 2.1 2.2 3.1 3.2 3.3 3.4 4.1 4.2 4.3 5.1 6.1 6.2 6.3 6.4 K_vα7-12 7.1 7.2 7.3 7.4 7.5 8.1 8.2 9.1 9.2 9.3 10.1 10.2 11.1/hERG 11.2 11.3 12.1 12.2 12.3 K_vβ 1 2 3 KCNIP 1 2 3 4 minK/ISK minK/ISK-like MiRP 1 2 3 Shaker gene

Miscellaneous

Cl⁻: Chloride channel	Calcium-activated chloride channels Anoctamin ANO1 Bestrophin 1 2 Chloride Channel Accessory 1 2 3 4 CFTR CLCN 1 2 3 4 5 6 7 KA KB CLIC 1 2 3 4 5 6 L1 CLNS 1A 1B

H⁺: Proton channel	HVCN1

M⁺: CNG cation channel	α 1 2 3 4 β 1 2 3 HCN FC 1 2 3 4

M⁺: TRP cation channel	TRPA (1) TRPC 1 2 3 4 4AP 5 6 7 TRPM 1 2 3 4 5 6 7 8 TRPML 1 2 3 TRPN TRPP 1 2 TRPV 1 2 3 4 5 6

H₂O (+ solutes): Porin	Aquaporin 0 1 2 3 4 5 6 7 8 9 Voltage-dependent anion channel 1 2 3 General bacterial porin family

Cytoplasm: Gap junction	Connexin: A GJA1 GJA3 GJA4 GJA5 GJA8 GJA9 GJA10 B GJB1 GJB2 GJB3 GJB4 GJB5 GJB6 GJB7 C GJC1 GJC2 GJC3 D GJD2 GJD3 GJD4) Innexin

By gating mechanism

Ion channel class	Ligand-gated Light-gated Voltage-gated Stretch-activated

see also disorders

Index of cells

Description	Structure nucleus chromosome genetics Organelles peroxisome cytoskeleton centrosome epithelia cilia mitochondria Membranes proteins cell adhesions Membrane transport ion channels vesicular transport solute carrier ABC transporters ATPase oxidoreduction-driven

Disease	Structural peroxisome cytoskeleton cilia mitochondria nucleus scleroprotein Membrane channelopathy solute carrier ATPase ABC transporters other extracellular ligands cell surface receptors intracellular signalling Vesicular transport Pore-forming toxins

GJC3

Function

Clinical significance

References

Further reading