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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GJD2
gap junction protein delta 2
Chromosome 15 · 15q14
NCBI Gene: 57369Ensembl: ENSG00000159248.5HGNC: HGNC:19154UniProt: Q9UKL4
43PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingconnexin complexcell-cell signalinggap junction channel activitymyopiaHypermetropiaAbnormality of refractionmyeloproliferative disorder
✦AI Summary

GJD2 encodes connexin 36 (Cx36), a gap junction protein that forms intercellular channels allowing direct communication between adjacent cells 1. The protein is highly conserved across species (98% identity between human, mouse, and rat) and is predominantly expressed in neuronal cells of the mammalian central nervous system 1. In the brain, GJD2 shows intense expression in the inferior olivary complex, cerebellar cortex, cerebral cortex, hippocampus, and spinal cord gray matter 1. The gene is located on chromosome 15 1. Functionally, GJD2 plays a critical role in refractive error development, particularly myopia. Multiple genome-wide association studies have consistently identified GJD2 variants as top genetic risk factors for myopia 2. Genetic variants in GJD2, particularly rs524952 and rs634990, are associated with increased risk of myopia progression in children and hyperopia with astigmatism 34. The GJD2 risk genotype follows a dose-response pattern, with carriers showing longer axial length and deeper vitreous chambers already visible at age 6 years 5. Functional studies in zebrafish demonstrate that loss of gjd2 orthologs leads to refractive errors and retinal electrophysiological changes 6, supporting its role in ocular biometry regulation through retinal gap junctional communication.

Sources cited
1
GJD2 encodes connexin 36, is highly conserved, predominantly expressed in neuronal cells, and located on chromosome 15q14
PMID: 10462698
2
GJD2 variants are consistently identified as top hits in GWAS for myopia and refractive errors
PMID: 35262731
3
GJD2 rs524952 is associated with fast myopia progression in children
PMID: 33811038
4
GJD2 variants rs634990 and rs524952 are associated with hyperopia and astigmatism risk
PMID: 35885949
5
GJD2 risk genotype shows dose-response pattern with longer axial length visible from age 6
PMID: 34406332
6
Loss of gjd2 orthologs in zebrafish causes refractive errors and retinal changes
PMID: 34083742
Disease Associationsⓘ20
myopiaOpen Targets
0.36Weak
HypermetropiaOpen Targets
0.34Weak
Abnormality of refractionOpen Targets
0.30Weak
myeloproliferative disorderOpen Targets
0.28Weak
refractive errorOpen Targets
0.27Weak
open-angle glaucomaOpen Targets
0.26Weak
heart diseaseOpen Targets
0.25Weak
Progressive visual lossOpen Targets
0.14Weak
AstigmatismOpen Targets
0.13Weak
schizophreniaOpen Targets
0.13Weak
atrial fibrillationOpen Targets
0.12Weak
eye diseaseOpen Targets
0.12Weak
Abruptio PlacentaeOpen Targets
0.11Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.08Suggestive
injuryOpen Targets
0.08Suggestive
hyperopiaOpen Targets
0.05Suggestive
drug allergyOpen Targets
0.04Suggestive
poisoningOpen Targets
0.04Suggestive
central nervous system cancerOpen Targets
0.04Suggestive
Menstrual disorderOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GJB3Shared pathway100%GJE1Shared pathway100%GJB7Shared pathway100%GJC3Shared pathway100%GJD4Shared pathway100%GJA10Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Heart
31%
Bone Marrow
3%
Ovary
0%
Liver
0%
Lung
0%
Gene Interaction Network
Click a node to explore
GJD2GJB3GJE1GJB7GJC3GJD4GJA10
PROTEIN STRUCTURE
Preparing viewer…
PDB8QOJ · 2.13 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.49 [0.31–0.80]
RankingsWhere GJD2 stands among ~20K protein-coding genes
  • #9,731of 20,598
    Most Researched43
  • #6,616of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedGJD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Role of GJD2(Cx36) in Refractive Error Development.
PMID: 35262731
Invest Ophthalmol Vis Sci · 2022
1.00
2
Association of CX36 Protein Encoding Gene
PMID: 35885949
Genes (Basel) · 2022
0.90
3
Gene-environment Interaction in Spherical Equivalent and Myopia: An Evidence-based Review.
PMID: 34546856
Ophthalmic Epidemiol · 2022
0.80
4
Association of polymorphisms in
PMID: 33811038
Br J Ophthalmol · 2021
0.70
5
Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.
PMID: 34406332
Invest Ophthalmol Vis Sci · 2021
0.60