2. Gene
  3. RASGRP2 - RAS guanyl releasing protein 2 Gene

RASGRP2 - RAS guanyl releasing protein 2 Gene

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

中文名称：RAS 鸟苷释放蛋白 2

种属: Homo sapiens

同用名: CDC25L; CALDAG-GEFI

基因 ID: 10235 | 基因类型: protein coding

关于 RASGRP2

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:64,726,911-64,745,456 (from NCBI)

This gene has 23 transcripts (splice variants), 204 orthologues, 24 paralogues and is associated with 2 phenotypes. Broad expression in bone marrow (RPKM 28.4), lymph node (RPKM 27.5) and 17 other tissues.

功能概要

该基因编码的蛋白质是一种富含大脑的核苷酸交换因子，包含一个 N 末端 GEF 结构域、2 个 EF 手钙结合基序串联重复序列和一个 C 末端二酰基甘油/佛波酯结合结构域。这种蛋白质可以激活小 GTP 酶，包括 Ras 和 RAP1/RAS3。这种蛋白质的核苷酸交换活性可以被钙和甘油二酯刺激。已经为该基因发现了编码两种不同同种型的四种可变剪接的转录物变体。[RefSeq 提供，2016 年 1 月]

The protein encoded by this gene is a brain-enriched nucleotide exchanged factor that contains an N-terminal GEF domain, 2 tandem repeats of EF-hand calcium-binding motifs, and a C-terminal diacylglycerol/phorbol ester-binding domain. This protein can activate small GTPases, including Ras and RAP1/RAS3. The nucleotide exchange activity of this protein can be stimulated by calcium and diacylglycerol. Four alternatively spliced transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]

RASGRP2 基因产物(4)

mRNA Protein Name
NM_001098670.2 NP_001092140.1 RAS guanyl-releasing protein 2 isoform a
NM_001098671.2 NP_001092141.1 RAS guanyl-releasing protein 2 isoform a
NM_001318398.2 NP_001305327.1 RAS guanyl-releasing protein 2 isoform b
NM_153819.1 NP_722541.1 RAS guanyl-releasing protein 2 isoform a
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 guanyl-nucleotide exchange factor activity IDA
IDA: 通过直接分析推断
24958846 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in cellular response to calcium ion IDA
IDA: 通过直接分析推断
24958846 GOA
involved in positive regulation of GTPase activity IDA
IDA: 通过直接分析推断
24958846 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cytosol IDA
IDA: 通过直接分析推断
10918068 GOA
located in plasma membrane IDA
IDA: 通过直接分析推断
10918068 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

RASGRP2 蛋白结构

RasGEF_N

RasGEF_N: RasGEF N-terminal motif (9 - 102)

RasGEF

RasGEF: RasGEF domain (153 - 324)

EF-hand_5

EF-hand_5: EF hand (432 - 452)

C1_1

C1_1: Phorbol esters/diacylglycerol binding domain (C1 domain) (499 - 550)

  • 0
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  • 200
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  • 500
  • 609 a.a.
蛋白主名 其他名称

RAS guanyl-releasing protein 2

F25B3.3 kinase-like protein

关联疾病

疾病名称 别名
Bleeding Disorder, Platelet-Type, 18

Platelet-Type Bleeding Disorder 18

BDPLT18

Bleeding Disorder Due To Calcium- And Dag-Regulated Guanine Exchange Factor-1 Deficiency

Bleeding Disorder Due To Caldag-Gefi Deficiency

Bleeding Disorder, Platelet Type 18
Leukocyte Adhesion Deficiency, Type Iii

Leukocyte Adhesion Deficiency 3

LAD3

Leukocyte Adhesion Deficiency 1 Variant

Lad1v

Integrin Activation Deficiency Disease

Iadd

Leukocyte Adhesion Deficiency Type Iii

Lad1 Variant

Lad-1 Variant

Lad-Iii

Leukocyte Adhesion Deficiency-1 Variant

Leukocyte Adhesion Deficiency Type 1
Leukocyte Adhesion Deficiency, Type I

Leukocyte Adhesion Deficiency

Leukocyte Adhesion Deficiency 1

LAD1

Lad

Lymphocyte Function-Associated Antigen 1 Immunodeficiency

Leukocyte Adhesion Deficiency Type I

Leukocyte Adhesion Deficiency Type 1

Linear Iga Bullous Dermatosis

Linear Iga Dermatosis

Leukocyte-Adhesion Deficiency Syndrome

Lfa1 Immunodeficiency

Congenital Leukocyte Adherence Deficiency

Lad-I

Linear Iga Disease

Leukocyte Adhesion Deficiency Syndrome

Lad 1

Lfa 1 Immunodeficiency

Linear Immunoglobulin A Dermatosis

Leucocyte Adhesion Deficiency Type 1

Leukocyte Adhesion Molecule Deficiency Type 1
Thrombasthenia
Glanzmann Thrombasthenia 1

Glanzmann Thrombasthenia

Thrombasthenia Of Glanzmann And Naegeli

Glanzmann'S Thrombasthenia

Bdplt2

Platelet Glycoprotein Iib-Iiia Deficiency

Deficiency Of Platelet Fibrinogen Receptor

GT1

Gt

Platelet Fibrinogen Receptor Deficiency

Glycoprotein Complex Iib-Iiia Deficiency

Deficiency Of Glycoprotein Complex Iib-Iiia

Glycoprotein Iib/Iiia Defect

Glanzmann Thrombasthenia, Type A

Thrombasthenia

Bleeding Disorder, Platelet-Type, 2

Gp Iib-Iiia Complex Deficiency

Deficiency Of Gp Iib-Iiia Complex

Platelet-Type Bleeding Disorder 2

Thrombocytasthenia

Deficiency Of Gp 2b 3a Complex

Diacyclothrombopathia 2b 3a

Glanzmann Thrombasthenia Type A

Platelet Fibrinogen Receptor, Deficiency Of

Platelet Glycoprotein 2b 3a Deficiency

Glanzmann Disease

Glanzmann-Naegeli Disorder

Hereditary Hemorrhagic Thrombasthenia

Hereditary Thrombasthenia

Bleeding Disorder Platelet-Type 2
Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia
Thrombocytopenia

Low Platelet Count

Low Platelets

Decreased Platelets

Platelet Dysfunction Nos
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-RS11694 RASGRP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Bos taurus RASGRP2 VGNC VGNC:33748
Felis catus RASGRP2 VGNC VGNC:104320
Macaca mulatta RASGRP2 VGNC VGNC:76672
Rattus norvegicus RASGRP2 RGD RGD:1311630
Canis familiaris RASGRP2 VGNC VGNC:45372
Mus musculus RASGRP2 MGD MGI:1333849
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