HSPA4L

Chr 4

heat shock protein family A (Hsp70) member 4 like

Also known as: APG-1, APG1, HSPH3, Osp94

The protein encoded by this gene is heat shock inducible and may act as a chaperone. The encoded protein can protect the heat-shocked cell against the harmful effects of aggregated proteins. This gene is highly expressed in leukemia cells and may be a good target for therapeutic intervention. Several transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

ResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
P/LP submissions
P/LP missense
0.62
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

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.62LOEUF
pLI 0.000
Z-score 3.53
OE 0.42 (0.290.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.00Z-score
OE missense 0.86 (0.790.94)
372 obs / 430.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.290.62)
00.351.4
Missense OE?0.86 (0.790.94)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 18 / 43.0Missense obs/exp: 372 / 430.6Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HSPA4L · 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 →