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 component of membrane • myelin sheath
Biological process	• cell communication • sensory perception of sound • myelination
Sources: Amigo / QuickGO

Orthologs

Species

Human

Mouse

RefSeq (mRNA)

RefSeq (protein)

Location (UCSC)

Chr 7:
99.92 – 99.93 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 2 3 "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

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GJC3

Function

Clinical significance

References

Further reading