GAB2 - GRB2 associated binding protein 2 Gene

中文名称：GRB2 相关结合蛋白 2

种属: Homo sapiens

基因 ID: 9846 | 基因类型: protein coding

关于 GAB2

Cytogenetic location: 11q14.1 Genomic coordinates (GRCh38): 11:78,215,293-78,417,820 (from NCBI)

This gene has 7 transcripts (splice variants), 202 orthologues and 7 paralogues. Ubiquitous expression in brain (RPKM 13.2), bone marrow (RPKM 11.6) and 25 other tissues.

功能概要

该基因是 GRB2 相关结合蛋白 (GAB) 基因家族的成员。这些蛋白质包含 pleckstrin 同源 (PH) 结构域，并结合 SHP2 酪氨酸磷酸酶和 GRB2 衔接蛋白。它们充当适配器，通过细胞因子和生长因子受体以及 T 细胞和 B 细胞抗原受体响应刺激而传输各种信号。由该基因编码的蛋白质是磷脂酰肌醇 3 激酶响应高亲和力 IgE 受体激活的主要激活剂。已针对该基因描述了编码不同亚型的两个可变剪接转录物。[RefSeq 提供，2009 年 11 月]

This gene is a member of the GRB2-associated binding protein (GAB) gene family. These proteins contain pleckstrin homology (PH) domain, and bind SHP2 tyrosine Phosphatase and GRB2 adapter protein. They act as adapters for transmitting various signals in response to stimuli through cytokine and growth factor receptors, and T- and B-cell antigen receptors. The protein encoded by this gene is the principal activator of phosphatidylinositol-3 kinase in response to activation of the high affinity IgE receptor. Two alternatively spliced transcripts encoding different isoforms have been described for this gene. [provided by RefSeq, Nov 2009]

GAB2 基因产物(2)

mRNA	Protein	Name
NM_012296.4	NP_036428.1	GRB2-associated-binding protein 2 isoform b
NM_080491.3	NP_536739.1	GRB2-associated-binding 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 protein binding	IPI IPI: 通过物理相互作用推断	15170389	GOA
enables transmembrane receptor protein tyrosine kinase adaptor activity	IDA IDA: 通过直接分析推断	19172738	GOA

生物过程 GO 注释	逻辑证据	参考文献	来源
involved in osteoclast differentiation	IMP IMP: 通过突变表型推断	15750601	GOA
involved in positive regulation of cell population proliferation	IDA IDA: 通过直接分析推断	19172738	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	19172738	GOA
located in plasma membrane	IDA IDA: 通过直接分析推断	19172738	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

GAB2 蛋白结构

0
200
400
600
676 a.a.

蛋白主名

其他名称

GRB2-associated-binding protein 2

Grb2-associated binder 2

关联疾病

疾病名称

别名

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia	Chronic Myelogenous Leukemia
CML	Chronic Granulocytic Leukemia
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib	Chronic Myeloid Leukaemia
Chronic Granulocytic Leukaemia	Chronic Myelogenous Leukaemia
Myeloid Leukemia, Chronic	Leukemia, Chronic Myelogenous
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic	Cml - Chronic Myelogenous Leukemia
Cgl	Chronic Myelocytic Leukemia
Leukemia, Chronic Myeloid, Atypical	ACML
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative	Myeloid Leukemia Chronic
Leukemia, Myeloid, Chronic	Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
Cml- [Chronic Myeloid Leukaemia]	Cgl - [Chronic Granulocytic Leukaemia]
Chronic Myelocytic Leukaemia

Alzheimer'S Disease 1

Alzheimer Disease Type 1

Alzheimer'S Disease 1, Early Onset

Juvenile Myelomonocytic Leukemia

Leukemia, Juvenile Myelomonocytic	JMML
Leukemia, Juvenile Myelomonocytic, Somatic	Juvenile Chronic Myelomonocytic Leukemia
Juvenile Chronic Myelogenous Leukemia	Leukemia, Myelomonocytic, Juvenile
Juvenile Myelomonocytic Leukaemia Without Mention Of Remission

Rasopathy

Ras/Mitogen-Activated Protein Kinase Syndrome

Noonan Syndrome 1

Noonan Syndrome	NS1
Male Turner Syndrome	Female Pseudo-Turner Syndrome
Turner Phenotype With Normal Karyotype	Noonan Syndrome With Pigmented Villonodular Synovitis
Turner'S Phenotype, Karyotype Normal	Familial Turner Syndrome
Noonan'S Syndrome	Noonan-Ehmke Syndrome
Ns	Pseudo-Ullrich-Turner Syndrome
Turner Syndrome In Female With X Chromosome	Turner-Like Syndrome
Ullrich-Noonan Syndrome	Noonan-Like/Multiple Giant Cell Lesion Syndrome
Noonan Syndrome-Like Disorder With Multiple Giant Cell Lesions	Pterygium Colli Syndrome
Noonan Syndrome, Type 1	Turner Syndrome, Male

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

Cat. No.	产品名	作用方式	纯度	是否罕见病
HY-RS05198	GAB2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	否

直系同源

种属	基因名	来源	基因 ID
Felis catus	GAB2	VGNC	VGNC:103013
Macaca mulatta	GAB2	VGNC	VGNC:72721
Rattus norvegicus	GAB2	RGD	RGD:621367
Mus musculus	GAB2	MGD	MGI:1333854

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MedChemExpress (MCE) 只为有资质的科研机构、医药企业基于科学研究或药证申报的用途提供医药研发服务，不为任何个人或者非科研性质的、非用于药证申报使用等其他用途提供服务。

站点地图隐私声明

沪ICP备15051369号-4

上海工商

沪公网安备31011502019417

沪(浦)应急管危经许[2021]201709(QFYS)

营业执照（三证合一）

GAB2 - GRB2 associated binding protein 2 Gene

关于 GAB2

功能概要

GAB2 基因产物(2)

GAB2 蛋白结构

关联疾病

直系同源

热门区域

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GAB2 - GRB2 associated binding protein 2 Gene

关于 GAB2

功能概要

GAB2 基因产物(2)

GAB2 蛋白结构

关联疾病

相关产品

直系同源

热门区域

A

B

C

F

G

H

J

L

N

Q

S

T

X

Y

Z