HSPA6

Chr 1

heat shock protein family A (Hsp70) member 6

Also known as: HSP70B'

NCBI Gene: 3310ENSG00000173110UniProt: P17066

Enables several functions, including ATP hydrolysis activity; heat shock protein binding activity; and unfolded protein binding activity. Involved in cellular response to heat and protein refolding. Located in COP9 signalosome; centriole; and cytosol. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
59
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.38
LOEUF
DN
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?
1.38LOEUF
pLI 0.000
Z-score 0.64
OE 0.79 (0.48–1.38)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.22Z-score
OE missense 1.03 (0.95–1.12)
398 obs / 386.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.79 (0.48–1.38)
0≤0.351.4
Missense OE?1.03 (0.95–1.12)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 9 / 11.3Missense obs/exp: 398 / 386.0Syn Z: -0.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HSPA6 · 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