FAM13A Chromosome 4
Family with sequence similarity 13 member A
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What This Gene Does
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]
Gene Info
Gene Group
Rho GTPase activating proteins
Locus Type
gene with protein product
Location
4q22.1
Ensembl
ENSG00000138640
Associated Conditions (5)
Chronic obstructive pulmonary disease
Squamous cell carcinoma
Interstitial lung disease 2
Combined pulmonary fibrosis-emphysema syndrome
Susceptibility to severe coronavirus disease (COVID-19)
Key Variants
RS1903003
association
Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
Health Risk
RS942316220
association
Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease
Health Risk
RS377446507
Conflicting classifications of pathogenicity
Squamous cell carcinoma, Squamous cell carcinoma
Health Risk
RS2609255
Uncertain significance; association
Interstitial lung disease 2, Chronic obstructive pulmonary disease, Combined pulmonary fibrosis-emphysema syndrome
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1903003 | Health Risk | association | Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |
| RS942316220 | Health Risk | association | Chronic obstructive pulmonary disease, Chronic obstructive pulmonary disease |
| RS377446507 | Health Risk | Conflicting classifications of pathogenicity | Squamous cell carcinoma, Squamous cell carcinoma |
| RS2609255 | Health Risk | Uncertain significance; association | Interstitial lung disease 2, Chronic obstructive pulmonary disease, Combined pulmonary fibrosis-emphysema syndrome |