HSPE1

Chr 2

heat shock protein family E (Hsp10) member 1

Also known as: CPN10, EPF, GROES, HSP10

This gene encodes a major heat shock protein which functions as a chaperonin. Its structure consists of a heptameric ring which binds to another heat shock protein in order to form a symmetric, functional heterodimer which enhances protein folding in an ATP-dependent manner. This gene and its co-chaperonin, HSPD1, are arranged in a head-to-head orientation on chromosome 2. Naturally occurring read-through transcription occurs between this locus and the neighboring locus MOBKL3.[provided by RefSeq, Feb 2011]

OMIMResearchGenerating clinical summary…
LOFmechanismLOEUF 0.56
Clinical SummaryHSPE1
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
6 VUS of 7 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.804
Z-score 2.15
OE 0.00 (0.000.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.45Z-score
OE missense 0.44 (0.310.62)
23 obs / 52.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.00 (0.000.56)
00.351.4
Missense OE?0.44 (0.310.62)
00.61.4
Synonymous OE?1.35
01.21.6
LoF obs/exp: 0 / 5.4Missense obs/exp: 23 / 52.6Syn Z: -1.20

This gene — mechanism propensity

DN
0.4388th %ile
GOF
0.2398th %ile
LOF
0.77top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

7 submitted variants in ClinVar

Classification Summary

VUS6
Likely Benign1
6
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
6
0
0
6
Likely Benign
0
0
0
1
1
Benign
0
0
0
0
0
Total06017

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

View in ClinVar →

36 pathogenic / likely-pathogenic (of 39) ClinVar copy-number / structural variants overlap HSPE1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

HSPE1 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →