FHIP2B

Chr 8

FHF complex subunit HOOK interacting protein 2B

Also known as: FAI16, FAM160B2, RAI16, RAM160B2

NCBI Gene: 64760ENSG00000158863UniProt: Q86V87
0
Active trials
0
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.78
LOEUF
GOF
Mechanism· predicted
Clinical Summary— FHIP2B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.78LOEUF
pLI 0.000
Z-score 2.60
OE 0.52 (0.36–0.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.08Z-score
OE missense 0.99 (0.91–1.07)
427 obs / 431.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.52 (0.36–0.78)
0≤0.351.4
Missense OE0.99 (0.91–1.07)
0≤0.61.4
Synonymous OE1.11
0≤1.21.6
LoF obs/exp: 18 / 34.5Missense obs/exp: 427 / 431.4Syn Z: -1.27
DN
0.5574th %ile
GOF
0.7027th %ile
LOF
0.3161th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FHIP2B · 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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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