FOCAD

Chr 9AR

focadhesin

Also known as: KIAA1797, SCOLIV

NCBI Gene: 54914ENSG00000188352UniProt: Q5VW36OMIM: 614606

The FOCAD protein is required for maintaining specific protein levels in the liver and may regulate RNA degradation by the exosome complex. Mutations cause severe congenital liver disease with autosomal recessive inheritance. This gene shows minimal constraint against loss-of-function variants in the general population.

OMIMResearchSummary from RefSeq, OMIM, UniProt
ARLOEUF 0.881 OMIM phenotype
Clinical Summary— FOCAD
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.88LOEUF
pLI 0.000
Z-score 2.59
OE 0.72 (0.59–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-2.93Z-score
OE missense 1.27 (1.21–1.33)
1182 obs / 930.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.72 (0.59–0.88)
0≤0.351.4
Missense OE1.27 (1.21–1.33)
0≤0.61.4
Synonymous OE1.18
0≤1.21.6
LoF obs/exp: 72 / 99.9Missense obs/exp: 1182 / 930.8Syn Z: -2.61

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FOCAD · 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

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
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
TNG961 is a selective oral HBS1L molecular glue degrader for the treatment of FOCAD-deleted cancers.
Nicholson HE et al.·Cancer Discov
2026
A novel homozygous splice-site variant in the FOCAD gene causing infantile liver cirrhosis and neutropenia: expanding disease phenotype and successful surgical treatment.
Nuzhnaya E et al.·Front Med (Lausanne)
2025Open Access
Tumor suppressor collateral damage screens reveal mRNA homeostasis protein HBS1L as a novel vulnerability in ch9p21 driven FOCAD deleted cancer.
Zhang H et al.·Biochim Biophys Acta Mol Cell Res
2026
FOCAD Gene Defect Resulting in Rapidly Progressing Neonatal Liver Cirrhosis Requiring Transplant.
Raja S et al.·Cureus
2025Open Access
A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications.
Tarrell A et al.·Case Rep Genet
2025Open Access
Top 5 resultsSearch Europe PMC ↗

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