GJC3 - Misplaced Pages

Protein-coding gene in the species Homo sapiens

GJC3

Identifiers

GJC3, CX29, CX30.2, CX31.3, GJE1, gap junction protein gamma 3

External IDs

OMIM: 611925; MGI: 2153041; HomoloGene: 15399; GeneCards: GJC3; OMA:GJC3 - orthologs

Gene location (Human)

Chr.	Chromosome 7 (human)

Band	7q22.1	Start	99,923,266 bp
Band	7q22.1	End	99,929,620 bp

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)

Band	5\|5 G2	Start	137,951,723 bp
Band	5\|5 G2	End	137,961,360 bp

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

tibial nerve

body of pancreas

olfactory zone of nasal mucosa

testicle

minor salivary glands

sural nerve

lactiferous gland

prostate

skin of leg

liver

Top expressed in

lumbar subsegment of spinal cord

primary visual cortex

superior frontal gyrus

dentate gyrus of hippocampal formation granule cell

cerebellar cortex

gastrula

deep cerebellar nuclei

sciatic nerve

globus pallidus

anterior horn of spinal cord

More reference expression data

BioGPS

n/a

Gene ontology
Molecular function	protein homodimerization activity gap junction channel activity involved in AV node cell-bundle of His cell electrical coupling
Cellular component	cell junction connexin complex plasma membrane myelin sheath membrane integral component of membrane gap junction
Biological process	myelination hearing cell communication AV node cell to bundle of His cell communication by electrical coupling
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


NP_536698

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 is known as a connexin, most of which form gap junctions that provide direct connections between neighboring cells. However, Cx29, which is highly expressed in myelin-forming glial cells of the CNS and PNS, has not been documented to form gap junctions in any cell type. In both PNS and CNS myelinated axons, Cx29 is precisely colocalized with Kv1.2 voltage-gated K+ channels, where both proteins are concentrated in the juxtaparanode and along the inner mesaxon. By freeze-fracture immunogold labeling electron microscopy, Cx29 is identified in abundant "rosettes" of transmembrane protein particles in the innermost layer of myelin, directly apposed to equally abundant immunogold-labeled Kv1.1 potassium channels, both in the juxtaparanodal axolemma and along the inner mesaxon. A role in K handling during saltatory conduction is implied but not yet demonstrated.

Clinical significance

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

References

^ GRCh38: Ensembl release 89: ENSG00000176402 – Ensembl, May 2017
^ GRCm38: Ensembl release 89: ENSMUSG00000056966 – 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.
^ "Entrez Gene: gap junction protein".
Altevogt BM, Kleopa KA, Postma FR, Scherer SS, Paul DL (August 2002). "Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems". The Journal of Neuroscience. 22 (15): 6458–70. doi:10.1523/JNEUROSCI.22-15-06458.2002. PMC 6758161. PMID 12151525.
Rash JE, Vanderpool KG, Yasumura T, Hickman J, Beatty JT, Nagy JI (April 2016). "KV1 channels identified in rodent myelinated axons, linked to Cx29 in innermost myelin: support for electrically active myelin in mammalian saltatory conduction". Journal of Neurophysiology. 115 (4): 1836–59. doi:10.1152/jn.01077.2015. PMC 4869480. PMID 26763782.

Hong HM, Yang JJ, Su CC, Chang JY, Li TC, Li SY (February 2010). "A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss". Human Genetics. 127 (2): 191–9. doi:10.1007/s00439-009-0758-y. PMID 19876648. S2CID 7892178.
Ramchander PV, Panda KC, Panda AK (August 2010). "Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India". Genetic Testing and Molecular Biomarkers. 14 (4): 539–41. doi:10.1089/gtmb.2010.0026. PMID 20632892.
Kleopa KA, Orthmann JL, Enriquez A, Paul DL, Scherer SS (September 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. S2CID 9498256.
Yang JJ, Wang WH, Lin YC, Weng HH, Yang JT, Hwang CF, Wu CM, Li SY (September 2010). "Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation". Human Genetics. 128 (3): 303–13. doi:10.1007/s00439-010-0856-x. PMID 20593197. S2CID 1423816.
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 Communication & Adhesion. 10 (1): 27–36. doi:10.1080/15419060302063. PMID 12881038. S2CID 225894.
Wang WH, Yang JJ, Lin YC, Yang JT, Chan CH, Li SY (2010). "Identification of novel variants in the Cx29 gene of nonsyndromic hearing loss patients using buccal cells and restriction fragment length polymorphism method". Audiology and Neuro-Otology. 15 (2): 81–7. doi:10.1159/000231633. PMID 19657183. S2CID 24962158.
Altevogt BM, Kleopa KA, Postma FR, Scherer SS, Paul DL (August 2002). "Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems". The Journal of Neuroscience. 22 (15): 6458–70. doi:10.1523/JNEUROSCI.22-15-06458.2002. PMC 6758161. PMID 12151525.
Sargiannidou I, Ahn M, Enriquez AD, Peinado A, Reynolds R, Abrams C, Scherer SS, Kleopa KA (May 2008). "Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants". Neurobiology of Disease. 30 (2): 221–33. doi:10.1016/j.nbd.2008.01.009. PMC 2704064. PMID 18353664.

Membrane transport protein: ion channels (TC 1A)

Ca: 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

This article on a gene on human chromosome 7 is a stub. You can help Misplaced Pages by expanding it.

Categories:

Function

Clinical significance

References

Further reading