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  2. ARHGAP42 - Rho GTPase activating protein 42 Gene

ARHGAP42 - Rho GTPase activating protein 42 Gene

中文名称:Rho GTP 酶激活蛋白 42

种属: Homo sapiens

同用名: AD031; GRAF3; TMEM133

基因 ID: 143872 | 基因类型: protein coding

关于 ARHGAP42

Cytogenetic location: 11q22.1 Genomic coordinates (GRCh38): 11:100,687,288-100,993,941 (from NCBI)

This gene has 9 transcripts (splice variants), 268 orthologues and 3 paralogues. Ubiquitous expression in placenta (RPKM 4.3), thyroid (RPKM 3.5) and 24 other tissues.

功能概要

该基因编码 Rho GTP 酶激活蛋白 (RhoGAP) ,以及 GRAF 或 BAR-PH 蛋白家族的成员。该基因的表达在血管平滑肌细胞中富集,编码的蛋白质抑制 RhoA 活性以调节血管张力和控制血压。该基因第一个内含子的突变调节其表达,并与临界高血压患者的血压降低有关。[RefSeq 提供,2017 年 7 月]

This gene encodes a Rho GTPase-activating protein (RhoGAP), and member of the GRAF or BAR-PH family of proteins. Expression of this gene is enriched in vascular smooth muscle cells and the encoded protein inhibits RhoA activity to regulate vascular tone and control blood pressure. A mutation in the first intron of this gene modulates its expression and is associated with reduced blood pressure in human patients with borderline hypertension. [provided by RefSeq, Jul 2017]

ARHGAP42 基因产物(2)

mRNA Protein Name
NM_001367945.1 NP_001354874.1 rho GTPase-activating protein 42 isoform 2
NM_152432.4 NP_689645.2 rho GTPase-activating protein 42 isoform 1
基因本体论
  • 分子功能
  • 生物过程
分子功能 GO 注释 逻辑证据 参考文献 来源
enables GTPase activator activity IDA
IDA: 通过直接分析推断
24335996 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in activation of GTPase activity IDA
IDA: 通过直接分析推断
24335996 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

ARHGAP42 蛋白结构

RhoGAP

RhoGAP: RhoGAP domain (397 - 545)

SH3_9

SH3_9: Variant SH3 domain (824 - 871)

  • 0
  • 200
  • 400
  • 600
  • 800
  • 874 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 42

rho-type GTPase-activating protein 42

关联疾病

疾病名称 别名
Pontocerebellar Hypoplasia, Type 8

Pontocerebellar Hypoplasia Type 8

PCH8

Pontocerebellar Hypoplasia Due To Chmp1a Mutation

Pontocerebellar Hypoplasia 8

Hypoplasia, Pontocerebellar, Type 8

Pontocerebellar Hypoplasia, Type 1a

Pontocerebellar Hypoplasia Type 1a

PCH1A

Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy

Pontocerebellar Hypoplasia With Anterior Horn Cell Disease

Pch1

Pontocerebellar Hypoplasia 1a

Hypoplasia, Pontocerebellar, Type 1a

Pontocerebellar Hypoplasia Type 1

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
Bos taurus ARHGAP42 VGNC VGNC:26096
Macaca mulatta ARHGAP42 VGNC VGNC:99546
Rattus norvegicus ARHGAP42 RGD RGD:1564081
Felis catus ARHGAP42 VGNC VGNC:81904
Mus musculus ARHGAP42 MGD MGI:1918794
Canis familiaris ARHGAP42 VGNC VGNC:38064