2. Gene
  3. ARHGEF12 - Rho guanine nucleotide exchange factor 12 Gene

ARHGEF12 - Rho guanine nucleotide exchange factor 12 Gene

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

中文名称：Rho 鸟嘌呤核苷酸交换因子 12

种属: Homo sapiens

同用名: LARG; PRO2792

基因 ID: 23365 | 基因类型: protein coding

关于 ARHGEF12

Cytogenetic location: 11q23.3 Genomic coordinates (GRCh38): 11:120,336,413-120,489,937 (from NCBI)

This gene has 14 transcripts (splice variants), 277 orthologues, 8 paralogues and is associated with 91 phenotypes. Ubiquitous expression in kidney (RPKM 33.3), thyroid (RPKM 28.1) and 25 other tissues.

功能概要

Rho GTP 酶在许多细胞过程中起着重要作用，这些过程是由细胞外刺激通过 G 蛋白偶联受体启动的。编码的蛋白质可能与 G 蛋白形成复合物并刺激 Rho 依赖性信号。已观察到该蛋白质在急性髓性白血病中形成骨髓/淋巴融合伙伴。已发现该基因的三个转录变体编码不同的亚型。[RefSeq 提供，2014 年 7 月]

Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

ARHGEF12 基因产物(3)

mRNA Protein Name
NM_001198665.2 NP_001185594.1 rho guanine nucleotide exchange factor 12 isoform 2
NM_001301084.2 NP_001288013.1 rho guanine nucleotide exchange factor 12 isoform 3
NM_015313.3 NP_056128.1 rho guanine nucleotide exchange factor 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 G protein-coupled receptor binding IDA
IDA: 通过直接分析推断
15755723 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
11724822 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
acts upstream of or within G protein-coupled receptor signaling pathway IDA
IDA: 通过直接分析推断
15755723 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytoplasm IDA
IDA: 通过直接分析推断
15755723 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

ARHGEF12 蛋白结构

PDZ

PDZ: PDZ domain (Also known as DHR or GLGF) (75 - 145)

RGS-like

RGS-like: Regulator of G protein signalling-like domain (368 - 558)

RhoGEF

RhoGEF: RhoGEF domain (791 - 976)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1544 a.a.
蛋白主名 其他名称

rho guanine nucleotide exchange factor 12

KMT2A/ARHGEF12 fusion protein

ARHGEF12 蛋白互作信息

分类
蛋白名称 蛋白编号 互作蛋白 互作蛋白种属 互作蛋白编号 实验方法 参考文献
种属内
ARHGEF12 Q9NZN5 GIPC1 Homo sapiens O14908
BioID
29467281
种属内
ARHGEF12 Q9NZN5 GIPC1 Homo sapiens O14908
Y2H
29467281
种属内
ARHGEF12 Q9NZN5 GIPC1 Homo sapiens O14908
Anti Tag CoIP
35271311
种属内
ARHGEF12 Q9NZN5 GIPC1 Homo sapiens O14908
Anti Tag CoIP
29467281
种属内
ARHGEF12 Q9NZN5 RHOA Homo sapiens P61586
Anti Tag CoIP
20300064
种属内
ARHGEF12 Q9NZN5 RHOA Homo sapiens P61586
X-Ray Diffraction
15364580
种属内
ARHGEF12 Q9NZN5 IGF1R Homo sapiens P08069
Pull Down
11724822
种属间
ARHGEF12 Q9NZN5 Lpar1 Mus musculus P61793
Pull Down
15755723
种属间
ARHGEF12 Q9NZN5 Lpar1 Mus musculus P61793
Anti Tag CoIP
15755723
种属间: 跨种属相互作用 种属内: 同种属相互作用

关联疾病

疾病名称 别名
Leukemia

Leukemias

Leukaemia, Unspecified, Without Mention Of Remission

Aleukemic Leukaemia

Chronic Leukaemia

Subacute Leukaemia

Leukaemia Disorder

Leukaemia Nos
Glaucoma, Normal Tension

Low Tension Glaucoma

Glaucoma, Normal Tension, Susceptibility To

Normal Tension Glaucoma

Ntg

Glaucoma, Normal Pressure

NPG

Glaucoma, Normal Pressure, Susceptibility To

Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Glaucoma, Primary Open Angle

Glaucoma 1, Open Angle, E

Primary Open Angle Glaucoma

POAG

Adult-Onset Primary Open Angle Glaucoma

Chronic Simple Glaucoma

GLC1E

Primary Open Angle Glaucoma 1e

Glaucoma, Open Angle, Primary
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-RS00949 ARHGEF12 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Canis familiaris ARHGEF12 VGNC VGNC:38075
Mus musculus ARHGEF12 MGD MGI:1916882
Bos taurus ARHGEF12 VGNC VGNC:26106
Macaca mulatta ARHGEF12 VGNC VGNC:99547
Rattus norvegicus ARHGEF12 RGD RGD:1305111
Felis catus ARHGEF12 VGNC VGNC:59899
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