GAB2 - GRB2 associated binding protein 2 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 9846

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
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
15170389 GOA
enables transmembrane receptor protein tyrosine kinase adaptor activity IDA
IDA: Inferred from direct assay
19172738 GOA
Biological Process GO Annotation Evidence References Source
involved in osteoclast differentiation IMP
IMP: Inferred from mutant phenotype
15750601 GOA
involved in positive regulation of cell population proliferation IDA
IDA: Inferred from direct assay
19172738 GOA
Cellular Component GO Annotation Evidence References Source
located in cytoplasm IDA
IDA: Inferred from direct assay
19172738 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
19172738 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

GAB2 Protein Structure

PH

PH: PH domain (8 - 116)

  • 0
  • 200
  • 400
  • 600
  • 676 a.a.
Protein Preferred Names Protein Names

GRB2-associated-binding protein 2

  • Grb2-associated binder 2

GAB2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
GAB2 Q9UQC2 ACP2 Homo sapiens P11117 32814053
Intra
GAB2 Q9UQC2 ACP2 Homo sapiens P11117 32814053
Intra
GAB2 Q9UQC2 ACP2 Homo sapiens P11117 32814053
Intra
GAB2 Q9UQC2 EGFR Homo sapiens P00533 19172738
Intra
GAB2 Q9UQC2 EGFR Homo sapiens P00533 16253990
Intra
GAB2 Q9UQC2 PTPN11 Homo sapiens Q06124 16253990
Intra
GAB2 Q9UQC2 PTPN11 Homo sapiens Q06124 19172738
Intra
GAB2 Q9UQC2 YWHAB Homo sapiens P31946 19172738
Intra
GAB2 Q9UQC2 YWHAB Homo sapiens P31946 19172738
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 19172738
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 10913131
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 31980649
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 25416956
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 25416956
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 32296183
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 20936779
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 25416956
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 32296183
Intra
GAB2 Q9UQC2 GRB2 Homo sapiens P62993 16253990
Intra
GAB2 Q9UQC2 GRAP2 Homo sapiens O75791 32296183
Intra
GAB2 Q9UQC2 GRAP2 Homo sapiens O75791 32296183
Cross: Cross-species interaction Intra: Intraspecies interaction

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

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
Others GAB2 NCBI