FAM13A family with sequence similarity 13 member A
Gene ID: 10144, updated on 4-Jan-2025Gene type: protein coding
Also known as: FAM13A1; ARHGAP48
- See all available tests in GTR for this gene
- Go to complete Gene record for FAM13A
- Go to Variation Viewer for FAM13A variants
Summary
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, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. GeneReviews: Not available | |
| Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. GeneReviews: Not available | |
| Genomewide association study of movement-related adverse antipsychotic effects. GeneReviews: Not available | |
| IREB2 and GALC are Associated with Pulmonary Artery Enlargement in Chronic Obstructive Pulmonary Disease. GeneReviews: Not available | |
| Meta-analyses of genome-wide association studies identify multiple loci associated with pulmonary function. GeneReviews: Not available | |
| Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. GeneReviews: Not available | |
| Variants in FAM13A are associated with chronic obstructive pulmonary disease. GeneReviews: Not available |
Genomic context
- Location:
- 4q22.1
- Sequence:
- Chromosome: 4; NC_000004.12 (88725960..89057185, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FAM13A variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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