FAM13A - family with sequence similarity 13 member A Gene

Homo sapiens

Also known as FAM13A1; ARHGAP48

Gene ID: 10144 | Gene type: protein coding

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

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04686	FAM13A Human Pre-designed siRNA Set A		/	Unkown

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

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