GAB2 - GRB2 associated binding protein 2 Gene

Homo sapiens

Gene ID: 9846 | Gene type: protein coding

About 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.

Summary

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 Products(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

GAB2 Protein Structure

0
200
400
600
676 a.a.

Protein Preferred Names

Protein Names

GRB2-associated-binding protein 2

Grb2-associated binder 2

Related Diseases

Diseases

Alias

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

Diseases	Alias
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.	Product Name	Effect	Purity	Rare Diseases
HY-RS05198	GAB2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	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