2. Gene
  3. ARHGAP12 - Rho GTPase activating protein 12 Gene

ARHGAP12 - Rho GTPase activating protein 12 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：Rho GTP 酶激活蛋白 12

种属: Homo sapiens

基因 ID: 94134 | 基因类型: protein coding

关于 ARHGAP12

Cytogenetic location: 10p11.22 Genomic coordinates (GRCh38): 10:31,805,398-31,928,876 (from NCBI)

This gene has 10 transcripts (splice variants), 276 orthologues and 3 paralogues. Ubiquitous expression in stomach (RPKM 14.4), brain (RPKM 12.6) and 25 other tissues.

功能概要

该基因编码一大类蛋白质的成员，这些蛋白质可激活 Rho 型三磷酸鸟苷 (GTP) 代谢酶。编码的蛋白质可能通过调节细胞侵袭和粘附参与抑制肿瘤形成。已经观察到该基因编码多种亚型的可变剪接转录物变体。[RefSeq 提供，2012 年 7 月]

This gene encodes a member of a large family of proteins that activate Rho-type guanosine triphosphate (GTP) metabolizing Enzymes. The encoded protein may be involved in suppressing tumor formation by regulating cell invasion and adhesion. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jul 2012]

ARHGAP12 基因产物(6)

mRNA Protein Name
NM_001270695.1 NP_001257624.1 rho GTPase-activating protein 12 isoform 2
NM_001270696.2 NP_001257625.1 rho GTPase-activating protein 12 isoform 3
NM_001270697.1 NP_001257626.1 rho GTPase-activating protein 12 isoform 4
NM_001270698.2 NP_001257627.1 rho GTPase-activating protein 12 isoform 5
NM_001270699.1 NP_001257628.1 rho GTPase-activating protein 12 isoform 6
NM_018287.7 NP_060757.4 rho GTPase-activating protein 12 isoform 1
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in actin filament organization IMP
IMP: 通过突变表型推断
26465210 GOA
involved in morphogenesis of an epithelial sheet IMP
IMP: 通过突变表型推断
23201090 GOA
involved in negative regulation of small GTPase mediated signal transduction IMP
IMP: 通过突变表型推断
26465210 GOA
involved in phagocytosis, engulfment IMP
IMP: 通过突变表型推断
26465210 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in phagocytic cup IDA
IDA: 通过直接分析推断
26465210 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

ARHGAP12 蛋白结构

SH3_9

SH3_9: Variant SH3 domain (19 - 70)

WW

WW: WW domain (269 - 296)

PH

PH: PH domain (481 - 573)

RhoGAP

RhoGAP: RhoGAP domain (670 - 818)

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

rho GTPase-activating protein 12

rho-type GTPase-activating protein 12

关联疾病

疾病名称 别名
Waardenburg Syndrome, Type 4a

Waardenburg-Shah Syndrome

Shah-Waardenburg Syndrome

Waardenburg Syndrome Type 4a

WS4A

Ws4

Waardenburg Syndrome Type 4

Waardenburg Syndrome Type Iva

Waardenburg Syndrome With Hirschsprung Disease Type 4a

Hirschsprung Disease With Pigmentary Anomaly

Waardenburg-Hirschsprung Syndrome

Waardenburg Syndrome, Type Iva

Waardenburg Syndrome With Hirschsprung Disease, Type 4a

Waardenburg-Hirschsprung Disease

Waardenburg Syndrome, Type 4

Waardenburg Syndrome 4a
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS00915 ARHGAP12 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ARHGAP12 VGNC VGNC:38046
Felis catus ARHGAP12 VGNC VGNC:59875
Rattus norvegicus ARHGAP12 RGD RGD:1310017
Bos taurus ARHGAP12 VGNC VGNC:26075
Macaca mulatta ARHGAP12 VGNC VGNC:69842
Mus musculus ARHGAP12 MGD MGI:1922665
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