1. Gene
  2. ARHGAP32 - Rho GTPase activating protein 32 Gene

ARHGAP32 - Rho GTPase activating protein 32 Gene

中文名称:Rho GTP 酶激活蛋白 32

种属: Homo sapiens

同用名: GRIT; RICS; GC-GAP; PX-RICS; p250GAP; p200RhoGAP

基因 ID: 9743 | 基因类型: protein coding

关于 ARHGAP32

Cytogenetic location: 11q24.3 Genomic coordinates (GRCh38): 11:128,965,060-129,279,632 (from NCBI)

This gene has 9 transcripts (splice variants), 209 orthologues and 3 paralogues. Ubiquitous expression in brain (RPKM 12.5), esophagus (RPKM 7.8) and 22 other tissues.

功能概要

RICS 是一种神经元相关 GTP 酶激活蛋白,可通过调节 Rho GTP 酶 (参见 RHOA;MIM 165390) 活性来调节树突棘形态和强度 (Okabe 等人,2003 [PubMed 12531901]) 。[OMIM 提供,2008 年 3 月] ]

RICS is a neuron-associated GTPase-activating protein that may regulate dendritic spine morphology and strength by modulating Rho GTPase (see RHOA; MIM 165390) activity (Okabe et al., 2003 [PubMed 12531901]).[supplied by OMIM, Mar 2008]

ARHGAP32 基因产物(4)

mRNA Protein Name
NM_001142685.2 NP_001136157.1 rho GTPase-activating protein 32 isoform 1
NM_001378024.1 NP_001364953.1 rho GTPase-activating protein 32 isoform 3
NM_001378025.1 NP_001364954.1 rho GTPase-activating protein 32 isoform 4
NM_014715.4 NP_055530.2 rho GTPase-activating protein 32 isoform 2

ARHGAP32 蛋白结构

PX

PX: PX domain (149 - 223)

SH3_9

SH3_9: Variant SH3 domain (266 - 317)

RhoGAP

RhoGAP: RhoGAP domain (386 - 534)

  • 0
  • 400
  • 800
  • 1200
  • 1600
  • 2087 a.a.
蛋白主名 其他名称

rho GTPase-activating protein 32

GAB-associated CDC42

关联疾病

疾病名称 别名
Subclavian Steal Syndrome

Subclavian Artery Stenosis

Subclavian Steal Phenomenon

Subclavian Steal Steno-Occlusive Disease

Subclavian Steal

Jacobsen Syndrome

Chromosome 11q Deletion Syndrome

Partial 11q Monosomy Syndrome

Jacobsen Distal 11q Deletion Syndrome

JBS

11q Partial Monosomy Syndrome

Chromosome 11q Deletion

11q Deletion

11q Monosomy

Deletion 11q

Monosomy 11q

Partial Monosomy 11q

11q Deletion Disorder

11q Deletion Syndrome

11q Terminal Deletion Disorder

11q- Deletion Syndrome

11q23 Deletion Disorder

Jacobsen Thrombocytopenia

11q Terminal Deletion Syndrome

Del(11)(Q23.3)

Del(11)(Qter)

Distal Deletion 11q

Distal Monosomy 11q

Monosomy 11qter

Telomeric Deletion 11q

Paris-Trousseau Thrombocytopenia

Fragile X Syndrome

FXS

Martin-Bell Syndrome

Fraxa Syndrome

Marker X Syndrome

X-Linked Mental Retardation And Macroorchidism

Fragile X Mental Retardation Syndrome

Fra Syndrome

Mental Retardation, X-Linked, Associated With Marxq28

X-Linked Intellectual Disability And Macroorchidism

Frax Syndrome

Symptomatic Form Of Fragile X Syndrome In Female Carriers

Fragile-X Syndrome

Fraxe Syndrome

Neuroblastoma

Nb

Neuroblastoma, Susceptibility To

Neuroblastomas

Central Neuroblastoma

Chromosome 17q23.1-Q23.2 Deletion Syndrome

17q23.1q23.2 Microdeletion Syndrome

17q23.1-Q23.2 Microdeletion Syndrome

Del(17)(Q23.1q23.2)

Monosomy 17q23.1q23.2

Monosomy 17q23.1-Q23.2

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 ARHGAP32 VGNC VGNC:59889
Bos taurus ARHGAP32 VGNC VGNC:26090
Canis familiaris ARHGAP32 VGNC VGNC:38059
Rattus norvegicus ARHGAP32 RGD RGD:1305267
Macaca mulatta ARHGAP32 VGNC VGNC:69855
Mus musculus ARHGAP32 MGD MGI:2450166