1. Gene
  2. FAM13A - family with sequence similarity 13 member A Gene

FAM13A - family with sequence similarity 13 member A Gene

中文名称:具有序列相似性的家族 13 成员 A

种属: Homo sapiens

同用名: FAM13A1; ARHGAP48

基因 ID: 10144 | 基因类型: protein coding

关于 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.

功能概要

预测启用 GTPase 激活剂活动。预测参与调节小 GTPase 介导的信号转导。预测位于胞质溶胶中。与慢性阻塞性肺病有关。 [由基因组资源联盟提供,2022 年 4 月]

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 基因产物(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 蛋白结构

RhoGAP

RhoGAP: RhoGAP domain (59 - 205)

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  • 1023 a.a.
蛋白主名 其他名称

protein FAM13A

FAM13A1_v2 protein

关联疾病

疾病名称 别名
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
疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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