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8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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GJB7
gap junction protein beta 7
Chromosome 6 · 6q14.3-q15
NCBI Gene: 375519Ensembl: ENSG00000164411.13HGNC: HGNC:16690UniProt: Q6PEY0
14PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
gap junction channel activitytransmembrane transportcell-cell signalingconnexin complexneurodegenerative diseaseatrial fibrillationheart failureleukemia
✦AI Summary

GJB7 encodes connexin-25, a gap junction protein that forms intercellular channels for cell-to-cell communication. As a connexin, GJB7 assembles with five other connexin molecules to create hemichannels (connexons) that dock with homologous proteins in adjacent cells, forming functional gap junctions with approximately 16 Ångstrom pores 1. These channels permit direct diffusion of small water-soluble molecules up to approximately 1000 daltons between adjacent cells 1. GJB7 is functionally expressed and capable of mediating dye transfer in transfected cells, confirming its role in intercellular communication 1. In disease contexts, GJB7 frameshift mutations occur in colorectal and gastric cancers with high microsatellite instability (MSI-H), appearing in approximately 1% of MSI-H colorectal cancers 2. These mutations may contribute to tumorigenesis by altering gap junction function and cellular communication integrity 2. Additionally, GJB7 expression is elevated in acute leukemia cells compared to normal hematopoietic stem cells, and Cx25-dependent gap junctions mediate homotypic leukemia cell communication that influences chemosensitivity 3. Reducing Cx25 expression sensitizes leukemia cells to chemotherapy, suggesting therapeutic potential 3. Notably, nonsyndromic deafness does not arise from GJB7 mutations in sub-Saharan African populations 4.

Sources cited
1
GJB7/Cx25 encodes a functional connexin with 223 amino acids that forms gap junction channels permitting small molecule transfer up to ~1000 daltons
PMID: 12064583
2
GJB7 harbors frameshift mutations in colorectal cancers with MSI-H and may contribute to tumorigenesis through altered gap junction function
PMID: 32170581
3
Cx25 mediates homotypic leukemia cell communication and its reduction sensitizes leukemia cells to chemotherapy
PMID: 26375552
4
GJB7 mutations do not cause nonsyndromic deafness in sub-Saharan African populations
PMID: 30169122
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.31Weak
atrial fibrillationOpen Targets
0.30Weak
heart failureOpen Targets
0.09Suggestive
leukemiaOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.03Suggestive
kidney diseaseOpen Targets
0.03Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
secondary malignant neoplasmOpen Targets
0.02Suggestive
COVID-19Open Targets
0.01Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.01Suggestive
head and neck squamous cell carcinomaOpen Targets
0.01Suggestive
bronchiectasisOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
non-Hodgkins lymphomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
Colon Sessile Serrated Adenoma/PolypOpen Targets
0.00Suggestive
acute lymphoblastic leukemiaOpen Targets
0.00Suggestive
lung diseaseOpen Targets
0.00Suggestive
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%GJC3Shared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
38%
Ovary
19%
Brain
13%
Liver
13%
Heart
0%
Gene Interaction Network
Click a node to explore
GJB7GJB3GJD2GJA9GJA10GJD4GJC3
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q6PEY0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.97LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF2.70 [0.93–1.97]
RankingsWhere GJB7 stands among ~20K protein-coding genes
  • #15,870of 20,598
    Most Researched14
  • #17,776of 17,882
    Most Constrained (LOEUF)1.97
Genes detectedGJB7
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
PMID: 30169122
Annu Rev Genomics Hum Genet · 2018
1.00
2
Tight Junction-Related CLDN5 and CLDN6 Genes, and Gap Junction-Related GJB6 and GJB7 Genes Are Somatically Mutated in Gastric and Colorectal Cancers.
PMID: 32170581
Pathol Oncol Res · 2020
0.88
3
Cloning and functional expression of a novel human connexin-25 gene.
PMID: 12064583
Cell Commun Adhes · 2001
0.75
4
Cx25 contributes to leukemia cell communication and chemosensitivity.
PMID: 26375552
Oncotarget · 2015
0.63
5
Determinants of geropsychiatric inpatient length of stay.
PMID: 15884745
Psychiatr Q · 2005
0.50