1. Gene
  2. RALGAPA2 - Ral GTPase activating protein catalytic subunit alpha 2 Gene

RALGAPA2 - Ral GTPase activating protein catalytic subunit alpha 2 Gene

中文名称:Ral GTPase 激活蛋白催化亚基 alpha 2

种属: Homo sapiens

同用名: p220; AS250; C20orf74; dJ1049G11; bA287B20.1; dJ1049G11.4

基因 ID: 57186 | 基因类型: protein coding

关于 RALGAPA2

Cytogenetic location: 20p11.23 Genomic coordinates (GRCh38): 20:20,389,530-20,712,644 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues and 2 paralogues. Ubiquitous expression in thyroid (RPKM 9.1), placenta (RPKM 6.4) and 25 other tissues.

功能概要

预测可启用 GTPase 激活剂活性和蛋白质异二聚化活性。预测参与 GTPase 活性的激活。预计作用于 Ral 蛋白信号转导的上游或内部;外囊定位的调节;和蛋白质定位的调节。位于胞质溶胶和质膜中。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable GTPase activator activity and protein heterodimerization activity. Predicted to be involved in activation of GTPase activity. Predicted to act upstream of or within Ral protein signal transduction; regulation of exocyst localization; and regulation of protein localization. Located in cytosol and plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]

RALGAPA2 基因产物(1)

mRNA Protein Name
NM_020343.4 NP_065076.2 ral GTPase-activating protein subunit alpha-2
基因本体论
  • 分子功能
  • 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
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
16490346 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

RALGAPA2 蛋白结构

Rap_GAP

Rap_GAP: Rap/ran-GAP (1664 - 1842)

  • 0
  • 300
  • 600
  • 900
  • 1200
  • 1500
  • 1873 a.a.
蛋白主名 其他名称

ral GTPase-activating protein subunit alpha-2

250 kDa substrate of Akt

RALGAPA2 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
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
种属内
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
种属内
RALGAPA2 Q2PPJ7 DDI1 Homo sapiens Q8WTU0 32296183
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
Congenital Myasthenic Syndrome 7

Cms7

Congenital Myasthenic Syndrome 7 Presynaptic

Myasthenic Syndrome, Congenital, Type 7, Presynaptic

Ohdo Syndrome, Sbbys Variant

Say-Barber-Biesecker-Young-Simpson Syndrome

SBBYSS

Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type

Yss

Sbbys Variant Of Ohdo Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type

Young Simpson Syndrome

Sbbyss Syndrome

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Blepharophimosis And Mental Retardation Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/Biesecker/Young-Simpson Type

Bmrs Sbbys

Ohdo Syndrome, Say-Barber-Biesecker Variant

Say-Barber-Biesecker-Young-Simpson Variant Of Ohdo Syndrome

Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome

Say-Barber-Biesecker Variant Of Ohdo Syndrome

Ohdo Syndrome

Young Simpson Syndrome

Ohdo Blepharophimosis Syndrome

Blepharophimosis Syndrome Ohdo Type

Blepharophimosis Intellectual Disability Syndromes

Bmrs

Blepharophimosis-Intellectual Disability Syndrome

Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, And Hypoplastic Teeth

Sbbys Syndrome

Say Barber Biesecker Young-Simpson Syndrome

Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type

Bmrs, Ohdo Type

Blepharophimosis Syndrome, Ohdo Type

Ohdo-Madokoro-Sonoda Syndrome

Blepharophimosis - Intellectual Disability Syndrome, Ohdo Type

Blepharophimosis - Intellectual Disability Syndrome

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 RALGAPA2 VGNC VGNC:81166
Canis familiaris RALGAPA2 VGNC VGNC:45333
Bos taurus RALGAPA2 VGNC VGNC:33702
Macaca mulatta RALGAPA2 VGNC VGNC:76488
Mus musculus RALGAPA2 MGD MGI:3036245
Rattus norvegicus RALGAPA2 RGD RGD:1308023