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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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FAM13A
family with sequence similarity 13 member A
Chromosome 4 · 4q22.1
NCBI Gene: 10144Ensembl: ENSG00000138640.16HGNC: HGNC:19367UniProt: O94988
73PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
GTPase activator activityregulation of small GTPase mediated signal transductioncytosolsignal transductionchronic obstructive pulmonary diseaseidiopathic pulmonary fibrosisrespiratory system diseaseresponse to bronchodilator
✦AI Summary

FAM13A is a GTPase-activating protein (GAP) predominantly expressed in multiciliated airway epithelial cells that regulates small GTPase signaling, particularly RhoA activity 1. The FAM13A long isoform contains an N-terminal RhoGAP domain with demonstrated RhoGAP catalytic activity 1. Functionally, FAM13A coordinates cilia movement and mucociliary clearance by regulating actin cytoskeleton dynamics and epithelial cell integrity 12. Loss of FAM13A increases RhoA activity, induces F-actin stress fiber formation, and dysregulates epithelial-mesenchymal transition markers 2. Clinically, FAM13A variants represent risk alleles for multiple respiratory diseases. Genome-wide association studies identified FAM13A as a susceptibility locus for chr4 obstructive pulmonary disease (COPD) and airway obstruction independent of smoking status 34. FAM13A dysfunction may impair mucociliary clearance, increasing respiratory disease susceptibility 1. Beyond pulmonary disease, FAM13A is involved in adiposity regulation and cardiometabolic homeostasis; it was identified as a causal gene for idiopathic pulmonary fibrosis and participates in fat distribution and insulin-glucose signaling pathways 56. Genetic polymorphisms in FAM13A associate with obesity phenotypes and fat distribution in metabolically healthy women 7.

Sources cited
1
FAM13A long isoform contains RhoGAP domain with GTPase-activating activity and coordinates cilia movement in mucociliary transport
PMID: 38691660
2
FAM13A knockdown increases RhoA activity, induces F-actin stress fibers, and regulates epithelial-mesenchymal transition markers
PMID: 29239766
3
FAM13A on chromosome 4q22 is associated with COPD susceptibility in GWAS studies
PMID: 21778810
4
FAM13A variants associate with FEV1/FVC ratio and airway obstruction independent of smoking status
PMID: 27612410
5
FAM13A is a causal gene for idiopathic pulmonary fibrosis identified through multi-omics approach as potential drug target
PMID: 40091050
6
FAM13A participates in fat distribution, adipocyte function, and insulin-glucose signaling in uncoupling adiposity from cardiometabolic disease
PMID: 33619380
7
FAM13A genetic polymorphisms associate with body mass index, visceral fat distribution, and blood pressure in obese women
PMID: 37107672
Disease Associationsⓘ20
chronic obstructive pulmonary diseaseOpen Targets
0.65Moderate
idiopathic pulmonary fibrosisOpen Targets
0.56Moderate
respiratory system diseaseOpen Targets
0.40Weak
response to bronchodilatorOpen Targets
0.38Weak
squamous cell carcinomaOpen Targets
0.34Weak
interstitial lung diseaseOpen Targets
0.34Weak
osteoarthritis, kneeOpen Targets
0.33Weak
Varicose veinsOpen Targets
0.31Weak
colorectal cancerOpen Targets
0.31Weak
metabolic syndromeOpen Targets
0.30Weak
skull disorderOpen Targets
0.29Weak
pulmonary fibrosisOpen Targets
0.29Weak
goutOpen Targets
0.28Weak
chronic bronchitisOpen Targets
0.28Weak
Abnormality of the skeletal systemOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.26Weak
AnisometropiaOpen Targets
0.26Weak
open-angle glaucomaOpen Targets
0.26Weak
malunion fractureOpen Targets
0.25Weak
myopiaOpen Targets
0.24Weak
Pathogenic Variants1
Single alleleLikely pathogenic
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language
★☆☆☆2023
View on ClinVar ↗
Related Genes
ARHGAP19Shared pathway100%GARNL3Shared pathway100%ARHGAP23Shared pathway100%PLEKHG1Shared pathway100%PLEKHG6Shared pathway100%FAM13BShared pathway100%
Tissue Expression6 tissues
Liver
100%
Ovary
74%
Bone Marrow
61%
Lung
40%
Heart
38%
Brain
34%
Gene Interaction Network
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FAM13AARHGAP19GARNL3ARHGAP23PLEKHG1PLEKHG6FAM13B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt O94988
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.75LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.47–0.75]
RankingsWhere FAM13A stands among ~20K protein-coding genes
  • #6,460of 20,598
    Most Researched73
  • #4,983of 5,498
    Most Pathogenic Variants1
  • #5,887of 17,882
    Most Constrained (LOEUF)0.75
Genes detectedFAM13A
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic insights into idiopathic pulmonary fibrosis: a multi-omics approach to identify potential therapeutic targets.
PMID: 40091050
J Transl Med · 2025
1.00
2
The Influence of
PMID: 37107672
Genes (Basel) · 2023
0.90
3
Genome-wide discovery of genetic loci that uncouple excess adiposity from its comorbidities.
PMID: 33619380
Nat Metab · 2021
0.80
4
The FAM13A Long Isoform Regulates Cilia Movement and Coordination in Airway Mucociliary Transport.
PMID: 38691660
Am J Respir Cell Mol Biol · 2024
0.70
5
Genetics of COPD.
PMID: 21778810
Allergol Int · 2011
0.60