The protein is a regulatory component of the INO80 chromatin remodeling complex, which controls gene transcription, DNA replication, and DNA repair. This gene is highly constrained against loss-of-function mutations (pLI 1.0, LOEUF 0.23), suggesting mutations would likely cause severe developmental disorders, though specific associated diseases have not yet been clearly established in the literature. The inheritance pattern for potential INO80D-related conditions remains to be determined.

OMIMResearchSummary from RefSeq, UniProt
LOFmechanismLOEUF 0.23
Clinical SummaryINO80D
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.23LOEUF
pLI 1.000
Z-score 5.29
OE 0.10 (0.050.23)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.74Z-score
OE missense 0.68 (0.620.74)
390 obs / 575.1 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.10 (0.050.23)
00.351.4
Missense OE0.68 (0.620.74)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 4 / 40.2Missense obs/exp: 390 / 575.1Syn Z: 0.12
DN
0.2499th %ile
GOF
0.2298th %ile
LOF
0.84top 5%

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

LOFprediction above median · LOEUF 0.23

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

INO80D · 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.

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Clinical Literature
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