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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GJD4
gap junction protein delta 4
Chromosome 10 · 10p11.21
NCBI Gene: 219770Ensembl: ENSG00000177291.4HGNC: HGNC:23296UniProt: Q96KN9
13PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindinggap junction channel activitycell-cell signalingconnexin complexAbruptio Placentaetrauma complicationStrabismusPalmar Fibromatosis
✦AI Summary

GJD4 (gap junction protein delta 4) encodes a connexin that assembles into hexameric hemichannels (connexons) forming gap junction channels, which facilitate intercellular communication by allowing passage of low molecular weight materials between adjacent cells 1. GJD4 functions as a gap junction channel protein with charge and size-dependent selectivity for solutes 2, enabling regulated cell-to-cell signaling through protein binding and connexin complex formation. GJD4 has been identified as a candidate gene in multiple physiological contexts. In poultry genetics, the GJD4-CCNY chr10 region showed selection signatures associated with abdominal fat content variation, suggesting roles in metabolic regulation 3. In auditory function, GJD4 was identified within a quantitative trait locus (Maced) mapping endocochlear potential variation and marginal cell density in the cochlear stria vascularis, implicating it in hearing regulation 4. Additionally, GJD4 was sequenced as a candidate gene in a novel Usher syndrome type 1 locus (USH1K) on chromosome 10.21-q21.1, though no pathogenic mutations were identified in affected families 5. The clinical significance of GJD4 relates to sensory and metabolic disorders. Gap junction dysfunction, as mediated by connexins including GJD4, may contribute to hearing loss and age-related presbycusis through effects on cochlear ion homeostasis. GJD4 represents a potential therapeutic target for disorders involving intercellular communication defects.

Sources cited
1
GJD4-CCNY region identified with selection signatures for abdominal fat content in chickens
PMID: 22792402
2
GJD4 sequenced as candidate gene in USH1K locus for Usher syndrome type 1 on chromosome 10
PMID: 22718019
3
Gjd4 identified in QTL region (Nirep) mapping endocochlear potential and marginal cell density in mouse cochlea
PMID: 26980469
4
Connexins form hexameric hemichannels and gap junctions for regulated intercellular communication
PMID: 22528526
5
Gap junction channels show connexin-dependent permeability with charge and size selectivity for solutes
PMID: 21148413
Disease Associationsⓘ20
Abruptio PlacentaeOpen Targets
0.08Suggestive
trauma complicationOpen Targets
0.08Suggestive
StrabismusOpen Targets
0.08Suggestive
Palmar FibromatosisOpen Targets
0.08Suggestive
response to stimulusOpen Targets
0.07Suggestive
osteitis deformansOpen Targets
0.07Suggestive
cataractOpen Targets
0.07Suggestive
duodenitisOpen Targets
0.07Suggestive
schizophreniaOpen Targets
0.06Suggestive
Alzheimer diseaseOpen Targets
0.06Suggestive
parasitic infectionOpen Targets
0.05Suggestive
stomach diseaseOpen Targets
0.05Suggestive
disturbances of sensation of smell and tasteOpen Targets
0.05Suggestive
sialolithiasisOpen Targets
0.05Suggestive
hypoparathyroidism, familial isolated, 2Open Targets
0.03Suggestive
isolated hyperchlorhidrosisOpen Targets
0.03Suggestive
pulmonary neuroendocrine tumorOpen Targets
0.03Suggestive
Neutropenia - monocytopenia - deafnessOpen Targets
0.03Suggestive
neutropenia-monocytopenia-deafness syndromeOpen Targets
0.03Suggestive
hair colorOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GJB3Shared pathway100%GJD2Shared pathway100%GJA9Shared pathway100%GJA10Shared pathway100%GJE1Shared pathway100%GJB7Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
10%
Lung
10%
Ovary
0%
Liver
0%
Heart
0%
Gene Interaction Network
Click a node to explore
GJD4GJB3GJD2GJA9GJA10GJE1GJB7
PROTEIN STRUCTURE
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PDB8GN7 · 3.00 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.85LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.32 [0.88–1.85]
RankingsWhere GJD4 stands among ~20K protein-coding genes
  • #16,170of 20,598
    Most Researched13
  • #16,869of 17,882
    Most Constrained (LOEUF)1.85
Genes detectedGJD4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Selection signature analysis implicates the PC1/PCSK1 region for chicken abdominal fat content.
PMID: 22792402
PLoS One · 2012
1.00
2
USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21-q21.1.
PMID: 22718019
J Hum Genet · 2012
0.90
3
QTL Mapping of Endocochlear Potential Differences between C57BL/6J and BALB/cJ mice.
PMID: 26980469
J Assoc Res Otolaryngol · 2016
0.80
4
HuR/Cx40 downregulation causes coronary microvascular dysfunction in type 2 diabetes.
PMID: 34747371
JCI Insight · 2021
0.70
5
Gap junctions and connexin hemichannels underpin hemostasis and thrombosis.
PMID: 22528526
Circulation · 2012
0.60