GJA10

Chr 6

gap junction protein alpha 10

Also known as: CX62

NCBI Gene: 84694ENSG00000135355UniProt: P57773

Connexins, such as GJA10, 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]

113
ClinVar variants
13
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— GJA10
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 Pathogenic / Likely Pathogenic· 92 VUS of 113 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.42LOEUF
pLI 0.000
Z-score 0.29
OE 0.92 (0.62–1.42)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.72Z-score
OE missense 1.12 (1.02–1.23)
316 obs / 282.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.92 (0.62–1.42)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.12 (1.02–1.23)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.04
0≤1.21.6
LoF obs/exp: 15 / 16.3Missense obs/exp: 316 / 282.1Syn Z: -0.30

ClinVar Variant Classifications

113 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic13
VUS92
Likely Benign8
13
Pathogenic
92
VUS
8
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
13
0
13
Likely Pathogenic
0
0
0
0
0
VUS
0
79
13
0
92
Likely Benign
0
6
2
0
8
Benign
0
0
0
0
0
Total085280113

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GJA10 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Expression of connexin genes in the human retina.
Söhl G et al.·BMC Ophthalmol
2010
Comprehensive Analysis of Colorectal Cancer Immunity and Identification of Immune-Related Prognostic Targets.
Wen H et al.·Dis Markers
2022
Connexin hemichannel mediated ephaptic inhibition in the retina.
Klaassen LJ et al.·Brain Res
2012Review
Structural, functional, and mechanistic insights uncover the fundamental role of orphan connexin-62 in platelets.
Sahli KA et al.·Blood
2021Functional
Expression of connexin57 in mouse development and in harmaline-tremor model.
Zappalà A et al.·Neuroscience
2010Functional
Gating, permselectivity and pH-dependent modulation of channels formed by connexin57, a major connexin of horizontal cells in the mouse retina.
Palacios-Prado N et al.·J Physiol
2009Functional
Molecular cloning and functional expression of the mouse gap junction gene connexin-57 in human HeLa cells.
Manthey D et al.·J Biol Chem
1999Functional
General and acute care surgical procedures in patients with left ventricular assist devices.
Arnaoutakis GJ et al.·World J Surg
2014Cohort
Spatial relationships of connexin36, connexin57 and zonula occludens-1 in the outer plexiform layer of mouse retina.
Ciolofan C et al.·Neuroscience
2007Functional
Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues.
Söhl G et al.·Cell Commun Adhes
2003Functional
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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