HIF1AN

Chr 10

hypoxia inducible factor 1 subunit alpha inhibitor

Also known as: FIH1

NCBI Gene: 55662ENSG00000166135UniProt: Q9NWT6OMIM: 606615

Enables several functions, including 2-oxoglutarate-dependent dioxygenase activity; NF-kappaB binding activity; and transition metal ion binding activity. Involved in negative regulation of Notch signaling pathway and positive regulation of myoblast differentiation. Located in cytosol; nucleoplasm; and perinuclear region of cytoplasm. [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
17
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.56
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.56LOEUF
pLI 0.074
Z-score 3.07
OE 0.28 (0.15–0.56)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.02Z-score
OE missense 0.59 (0.50–0.69)
111 obs / 189.0 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.28 (0.15–0.56)
0≤0.351.4
Missense OE?0.59 (0.50–0.69)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 6 / 21.2Missense obs/exp: 111 / 189.0Syn Z: 0.78

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

HIF1AN · 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