HSPA12A

Chr 10

heat shock protein family A (Hsp70) member 12A

NCBI Gene: 259217ENSG00000165868UniProt: O43301OMIM: 610701

Predicted to enable ATP binding activity. Predicted to act upstream of or within several processes, including import into nucleus; liver development; and macrophage activation. Located in extracellular exosome. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
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Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.984
Z-score 4.42
OE 0.13 (0.06–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.12Z-score
OE missense 0.71 (0.64–0.78)
298 obs / 420.4 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.13 (0.06–0.30)
0≤0.351.4
Missense OE?0.71 (0.64–0.78)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 4 / 30.3Missense obs/exp: 298 / 420.4Syn Z: 0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSPA12A · 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