FAM13A

Chr 4

family with sequence similarity 13 member A

Also known as: ARHGAP48, FAM13A1

NCBI Gene: 10144ENSG00000138640UniProt: O94988

Predicted to enable GTPase activator activity. Predicted to be involved in regulation of small GTPase mediated signal transduction. Predicted to be located in cytosol. Implicated in chronic obstructive pulmonary disease. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
29
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.83
LOEUF
DN
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.83LOEUF
pLI 0.000
Z-score 2.64
OE 0.63 (0.49–0.83)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.80Z-score
OE missense 0.91 (0.84–0.97)
510 obs / 563.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.63 (0.49–0.83)
0≤0.351.4
Missense OE?0.91 (0.84–0.97)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 38 / 60.1Missense obs/exp: 510 / 563.5Syn Z: 1.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FAM13A · 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