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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GJC3
gap junction protein gamma 3
Chromosome 7 · 7q22.1
NCBI Gene: 349149Ensembl: ENSG00000176402.6HGNC: HGNC:17495UniProt: Q8NFK1
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingconnexin complexcell-cell signalinggap junction channel activityage-related macular degenerationX-linked retinal dysplasiadeafnessautosomal dominant slowed nerve conduction velocity
✦AI Summary

GJC3 (connexin 31.3/Cx31.3) encodes a gap junction protein expressed primarily in oligodendrocytes that forms hexameric hemichannels assembling into gap junction intercellular channels (GJIChs) for cell-cell communication 1. The protein mediates both electrical and metabolic coupling between cells, with structural studies revealing a ~8 Å pore diameter that selectively transports chloride ions 2. In the central nervous system, oligodendrocytes express GJC3 alongside other connexins (Cx32, Cx47) and form heterotypic channels with astrocyte connexins to facilitate glial communication 1. GJC3 mutations cause nonsyndromic hearing loss through impaired hemichannel function. Two missense mutations (p.R15G and p.L23H) reduce ATP release without affecting membrane trafficking 3, while p.W77S exhibits a dominant negative effect, accumulating in the endoplasmic reticulum and degrading via proteasome/lysosomal pathways 4. Among connexin gene variants, GJC3 mutations associate with flat audiometric configurations in hearing-impaired children 5. Notably, GJC3 expression differs between species: it is confined to mouse myelin but absent from human central nervous system myelin, suggesting species-dependent divergence relevant to translating mouse disease models to humans 6.

Sources cited
1
GJC3 encodes Cx29/Cx31.3 expressed in oligodendrocytes; connexins form hemichannels and gap junction channels for electrical and metabolic coupling
PMID: 37189458
2
Cryo-EM structure shows Cx31.3 hemichannel has ~8 Å pore diameter and selectively transports chloride ions
PMID: 32923625
3
GJC3 missense mutations p.R15G and p.L23H cause hearing loss through reduced hemichannel function and ATP release
PMID: 23179405
4
GJC3 p.W77S mutation shows dominant negative effect with ER accumulation and proteasome/lysosomal degradation
PMID: 28367085
5
GJC3 variants associate with flat audiometric configuration in nonsyndromic hearing loss children
PMID: 20593197
6
GJC3 (Cx29) expression is confined to mouse myelin but absent from human central nervous system myelin
PMID: 35543322
Disease Associationsⓘ20
age-related macular degenerationOpen Targets
0.07Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
deafnessOpen Targets
0.06Suggestive
autosomal dominant slowed nerve conduction velocityOpen Targets
0.05Suggestive
age related macular degeneration 11Open Targets
0.05Suggestive
age related macular degeneration 2Open Targets
0.05Suggestive
age related macular degeneration 4Open Targets
0.05Suggestive
age related macular degeneration 6Open Targets
0.05Suggestive
age related macular degeneration 7Open Targets
0.05Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.05Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.05Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.04Suggestive
adult-onset autosomal dominant demyelinating leukodystrophyOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4B1Open Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 1FOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4AOpen Targets
0.04Suggestive
hearing loss, autosomal recessiveOpen Targets
0.04Suggestive
Autosomal dominant intermediate Charcot-Marie-Tooth disease type BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease dominant intermediate BOpen Targets
0.04Suggestive
Charcot-Marie-Tooth disease type 4JOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GJB3Shared pathway100%GJD2Shared pathway100%GJA9Shared pathway100%GJA10Shared pathway100%GJD4Shared pathway100%GJE1Shared pathway100%
Tissue Expression6 tissues
Liver
100%
Brain
41%
Ovary
18%
Bone Marrow
17%
Heart
13%
Lung
8%
Gene Interaction Network
Click a node to explore
GJC3GJB3GJD2GJA9GJA10GJD4GJE1
PROTEIN STRUCTURE
Preparing viewer…
PDB6L3T · 2.34 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.21LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.54–1.21]
RankingsWhere GJC3 stands among ~20K protein-coding genes
  • #14,706of 20,598
    Most Researched18
  • #12,760of 17,882
    Most Constrained (LOEUF)1.21
Genes detectedGJC3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47.
PMID: 37189458
Biomolecules · 2023
1.00
2
Cryo-EM structure of human Cx31.3/GJC3 connexin hemichannel.
PMID: 32923625
Sci Adv · 2020
0.90
3
Conservation and divergence of myelin proteome and oligodendrocyte transcriptome profiles between humans and mice.
PMID: 35543322
Elife · 2022
0.80
4
Mechanism of two novel human GJC3 missense mutations in causing non-syndromic hearing loss.
PMID: 23179405
Cell Biochem Biophys · 2013
0.70
5
PMID: 32524838
Exp Biol Med (Maywood) · 2020
0.60