GJB7

Chr 6

gap junction protein beta 7

Also known as: CX25, bA136M9.1, connexin25

NCBI Gene: 375519ENSG00000164411UniProt: Q6PEY0

Connexins, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.91
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.91LOEUF
pLI 0.000
Z-score -0.79
OE 1.35 (0.77–1.91)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.37Z-score
OE missense 1.10 (0.95–1.28)
122 obs / 111.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.35 (0.77–1.91)
0≤0.351.4
Missense OE?1.10 (0.95–1.28)
0≤0.61.4
Synonymous OE?0.77
0≤1.21.6
LoF obs/exp: 8 / 5.9Missense obs/exp: 122 / 111.0Syn Z: 1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GJB7 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients