HSFY1

Chr Y

heat shock transcription factor Y-linked 1

Also known as: HSF2L, HSFY

This gene encodes a heat shock factor family transcriptional activator that regulates heat shock protein expression and is located on the Y chromosome in a region associated with male infertility. Deletions involving HSFY1 are linked to azoospermia and male infertility. The gene follows Y-linked inheritance, passing from father to son.

OMIMResearchSummary from RefSeq
Clinical SummaryHSFY1
📋
ClinVar Variants
64 unique Pathogenic / Likely Pathogenic· 10 VUS of 87 total submissions

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

87 submitted variants in ClinVar

Classification Summary

Pathogenic62
Likely Pathogenic2
VUS10
Likely Benign10
Benign2
Conflicting1
62
Pathogenic
2
Likely Pathogenic
10
VUS
10
Likely Benign
2
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
62
Likely Pathogenic
2
VUS
10
Likely Benign
10
Benign
2
Conflicting
1
Total87

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

HSFY1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found