FAM13A - family with sequence similarity 13 member A Gene
Also Known as FAM13A1; ARHGAP48
Species: Homo sapiens
About FAM13A
This gene has 22 transcripts (splice variants), 238 orthologues, 2 paralogues and is associated with 1 phenotype. Ubiquitous expression in fat (RPKM 21.4), thyroid (RPKM 14.6) and 25 other tissues.
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, Apr 2022]
FAM13A Products (5)
| mRNA | Protein | Name |
|---|---|---|
| NM_001015045.3 | NP_001015045.1 | protein FAM13A isoform b |
| NM_001265578.2 | NP_001252507.1 | protein FAM13A isoform c |
| NM_001265579.2 | NP_001252508.1 | protein FAM13A isoform d |
| NM_001265580.2 | NP_001252509.1 | protein FAM13A isoform e |
| NM_014883.4 | NP_055698.2 | protein FAM13A isoform a |
FAM13A Protein Structure
RhoGAP: RhoGAP domain (59 - 205)
- 0
- 200
- 400
- 600
- 800
- 1023 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
protein FAM13A |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
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| Interstitial Lung Disease 2 |
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| Silicosis |
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| Bronchitis |
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| Plasma Protein Metabolism Disease |
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