Description: Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA. RefSeq Summary (NM_080491): 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]. Transcript (Including UTRs) Position: hg19 chr11:77,926,336-78,128,868 Size: 202,533 Total Exon Count: 10 Strand: - Coding Region Position: hg19 chr11:77,930,318-78,128,766 Size: 198,449 Coding Exon Count: 10
ID:GAB2_HUMAN DESCRIPTION: RecName: Full=GRB2-associated-binding protein 2; AltName: Full=GRB2-associated binder 2; AltName: Full=Growth factor receptor bound protein 2-associated protein 2; AltName: Full=pp100; FUNCTION: Adapter protein which acts downstream of several membrane receptors including cytokine, antigen, hormone, cell matrix and growth factor receptors to regulate multiple signaling pathways. Regulates osteoclast differentiation mediating the TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis. SUBUNIT: Interacts with SHC1; may mediate interaction with receptors (By similarity). Interacts with SYK (By similarity). Interacts with PI-3 kinase. Interacts with GRB2 (via SH3 2 domain). Interacts (phosphorylated) with PTPN11. Interacts with TNFRSF11A (via cytoplasmic domain). Interacts (phosphorylated) with 14-3-3 family proteins SFN, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ; prevents interaction with GRB2 and attenuates GAB2 signaling. Interacts with HCK. INTERACTION: P62993:GRB2; NbExp=4; IntAct=EBI-975200, EBI-401755; SUBCELLULAR LOCATION: Cytoplasm. Cell membrane. DOMAIN: The SH3-binding motifs mediate interaction with SHC1 and GRB2 (By similarity). DOMAIN: The PH domain mediates phosphatidylinositol 3,4,5- trisphosphate and phosphatidylinositol 3,4-bisphosphate binding (By similarity). PTM: Phosphorylated on tyrosine residue(s) by the thrombopoietin receptor (TPOR), stem cell factor receptor (SCFR), and T-cell and B-cell antigen receptors, gp130, IL-2R and IL-3R (By similarity). Phosphorylated upon stimulation of TNFRSF11A/RANK by TNFSF11/RANKL (By similarity). Phosphorylated upon EGF stimulation. Phosphorylated on tyrosine residues by HCK upon IL6 signaling. PTM: Dephosphorylated by PTPN11. SIMILARITY: Belongs to the GAB family. SIMILARITY: Contains 1 PH domain. SEQUENCE CAUTION: Sequence=BAA25497.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Menarche Cathy E Elks et al. Nature genetics 2010, Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies., Nature genetics.
[PubMed 21102462]
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9UQC2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
