FAM13A - family with sequence similarity 13 member A Gene

Also Known as FAM13A1; ARHGAP48

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 10144

About FAM13A

Cytogenetic location: 4q22.1 Genomic coordinates (GRCh38): 4:88,725,960-89,057,185 (from NCBI)

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: RhoGAP domain (59 - 205)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 1023 a.a.
Protein Preferred Names Protein Names

protein FAM13A

  • FAM13A1_v2 protein

Related Diseases

Diseases Alias
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
  • Polycystic Kidney Disease 2

  • PKD2

  • Polycystic Kidney Disease, Adult, Type Ii

  • Apkd2

  • Polycystic Kidney Disease, Type 2

  • Adpkd2

  • Adult Polycystic Kidney Disease Type 2

  • Autosomal Dominant Polycystic Kidney Disease 2

  • Pkd-2

  • Polycystic Kidney Disease Adult Type Ii

  • Polycystic Kidney Type 2 Autosomal Dominant Disease

  • Kidney Disease, Polycystic, Type 2

Interstitial Lung Disease 2
  • Idiopathic Pulmonary Fibrosis

  • Ipf

  • Fibrocystic Pulmonary Dysplasia

  • Pulmonary Fibrosis, Idiopathic

  • Pulmonary Fibrosis, Idiopathic, Susceptibility To

  • Cryptogenic Fibrosing Alveolitis

  • ILD2

  • Idiopathic Pulmonary Fibrosis, Familial

  • Fibrosing Alveolitis, Cryptogenic

  • Uip

  • Fibrosing Alveolitis

  • Interstitial Pneumonitis, Usual

  • Familial Idiopathic Pulmonary Fibrosis

  • Idiopathic Fibrosing Alveolitis, Chronic Form

  • Usual Interstitial Pneumonia

  • Fibrosing Alveolitis Cryptogenic

  • Hamman-Rich Disease

  • Idiopathic Pulmonary Fibrosis Familial

  • Interstitial Pneumonitis Usual

  • Fibrosis Idiopathic Pulmonary

  • Fibrosis, Pulmonary, Idiopathic

  • Hamman-Rich Syndrome

  • Chronic Idiopathic Pulmonary Fibrosis

  • Acute Interstitial Pneumonia

  • Interstitial Pulmonary Fibrosis

  • Ipf - [Idiopathic Pulmonary Fibrosis]

  • Idiopathic Lung Fibrosis

  • Fibrosing Lung Disease

  • Pulmonary Fibrosis Nos

  • Fibrosing Pneumonitis

Silicosis
  • Silicotuberculosis

  • Acute Silicosis

  • Chronic Silicosis

  • Pneumoconiosis Due To Silicates

  • Silica Pneumoconiosis

  • Silicotic Fibrosis Of Lung

  • Accelerated Silicosis

  • Experimental Silicosis

Bronchitis
  • Chronic Bronchitis

  • Acute Bronchitis

  • Bronchitis, Chronic

  • Acute Bronchitis And Bronchiolitis

  • Chest Cold

  • Chest Infection

  • Ci - Chest Infection

  • Recurrent Wheezy Bronchitis

  • Bronchitis Chronic

  • Lower Respiratory Tract Infection

  • Acute Lower Respiratory Tract Infection

  • Chronic Bronchitis Nos

  • Senile Bronchitis

  • Bronchitis Nos In Those Under L5 Years Of Age

  • Bronchitis Nos

Plasma Protein Metabolism Disease
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus FAM13A VGNC VGNC:62063
Rattus norvegicus FAM13A RGD RGD:1309807
Bos taurus FAM13A VGNC VGNC:28731
Macaca mulatta FAM13A VGNC VGNC:72299
Mus musculus FAM13A MGD MGI:1889842
Canis familiaris FAM13A VGNC VGNC:40596