FHIP2A

Chr 10

FHF complex subunit HOOK interacting protein 2A

Also known as: FAM160B1, KIAA1600, bA106M7.3

Predicted to be involved in protein transport along microtubule. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating 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
1
Pubs (1 yr)
P/LP submissions
P/LP missense
0.25
LOEUF· LoF intol.
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.25LOEUF
pLI 0.999
Z-score 5.29
OE 0.12 (0.060.25)
Highly constrained

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

Missense Constraint?
1.37Z-score
OE missense 0.81 (0.740.89)
325 obs / 402.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.12 (0.060.25)
00.351.4
Missense OE?0.81 (0.740.89)
00.61.4
Synonymous OE?1.06
01.21.6
LoF obs/exp: 5 / 42.0Missense obs/exp: 325 / 402.5Syn Z: -0.59

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

FHIP2A · 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.

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