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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GJA9
gap junction protein alpha 9
Chromosome 1 · 1p34.3
NCBI Gene: 81025Ensembl: ENSG00000131233.10HGNC: HGNC:19155UniProt: P57773
10PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gap junction channel activitycell-cell signalingconnexin complexgap junctionmenopausemathematical abilityliver diseaseplacental retention
✦AI Summary

GJA9 encodes connexin 59, a gap junction protein that forms intercellular channels allowing diffusion of low molecular weight materials between adjacent cells 1. The protein belongs to a specialized subgroup of connexins that can function both as traditional gap junction channels and as hemichannels mediating ephaptic inhibitory signaling in retinal synapses 2. In the retina, GJA9-encoded connexins participate in sign-inverting synaptic feedback from horizontal cells to cone photoreceptors through ephaptic mechanisms 2. The protein shows predominant neuronal expression, particularly in the central nervous system where it may facilitate electrical coupling between neurons 3. Disease relevance includes polyneuropathy, as a frameshift variant in GJA9 causes inherited polyneuropathy in Leonberger dogs with dominant inheritance and incomplete penetrance, making it a candidate gene for Charcot-Marie-Tooth disease 1. Additionally, GJA9 variants have been identified in patients with Mendelian neurocognitive disorders 4. Recent research demonstrates that connexin 36 (the protein product) can mediate intercellular transmission of endoplasmic reticulum stress signals, contributing to somatostatin analogue resistance in growth hormone pituitary adenomas 5. The gene also produces long non-coding RNA transcripts (GJA9-MYCBP) that serve as diagnostic biomarkers for acute lymphoblastic leukemia 6.

Sources cited
1
GJA9 encodes connexin 59 and frameshift variants cause polyneuropathy in dogs
PMID: 28841859
2
GJA9-encoded connexins function as hemichannels mediating ephaptic inhibition in retinal synapses
PMID: 22796289
3
Cx36 shows predominant neuronal expression in the central nervous system
PMID: 10751658
4
GJA9 variants identified in patients with Mendelian neurocognitive disorders
PMID: 26077850
5
Connexin 36 mediates intercellular endoplasmic reticulum stress transmission in pituitary adenomas
PMID: 38169563
6
GJA9-MYCBP long non-coding RNA serves as diagnostic biomarker for acute lymphoblastic leukemia
PMID: 38994720
Disease Associationsⓘ20
menopauseOpen Targets
0.16Weak
mathematical abilityOpen Targets
0.10Weak
liver diseaseOpen Targets
0.08Suggestive
placental retentionOpen Targets
0.08Suggestive
kidney diseaseOpen Targets
0.07Suggestive
non-small cell lung carcinomaOpen Targets
0.07Suggestive
cardiomyopathyOpen Targets
0.06Suggestive
poisoningOpen Targets
0.04Suggestive
bipolar disorderOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.03Suggestive
rotator cuff tearOpen Targets
0.03Suggestive
atrial fibrillationOpen Targets
0.03Suggestive
gram-negative bacterial infectionsOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
Charcot-Marie-Tooth diseaseOpen Targets
0.01Suggestive
acute myeloid leukemiaOpen Targets
0.01Suggestive
lung cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
deafnessOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GJB3Shared pathway100%GJD2Shared pathway100%GJE1Shared pathway100%GJB7Shared pathway100%GJC3Shared pathway100%GJD4Shared pathway100%
Tissue Expression6 tissues
Brain
100%
Lung
40%
Ovary
40%
Bone Marrow
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
GJA9GJB3GJD2GJE1GJB7GJC3GJD4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P57773
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.86LoF Tolerant
pLIⓘ
0.18Tolerant
Observed/Expected LoF0.76 [0.23–1.86]
RankingsWhere GJA9 stands among ~20K protein-coding genes
  • #17,064of 20,598
    Most Researched10
  • #16,932of 17,882
    Most Constrained (LOEUF)1.86
Genes detectedGJA9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Connexin hemichannel mediated ephaptic inhibition in the retina.
PMID: 22796289
Brain Res · 2012
1.00
2
Plasma cell-free RNA characteristics in COVID-19 patients.
PMID: 35064006
Genome Res · 2022
0.90
3
A GJA9 frameshift variant is associated with polyneuropathy in Leonberger dogs.
PMID: 28841859
BMC Genomics · 2017
0.80
4
Upregulation of the long noncoding RNA GJA9-MYCBP and PVT1 is a potential diagnostic biomarker for acute lymphoblastic leukemia.
PMID: 38994720
Cancer Rep (Hoboken) · 2024
0.70
5
Structure, chromosomal localization, and brain expression of human Cx36 gene.
PMID: 10462698
J Neurosci Res · 1999
0.60