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GAB2 GRB2 associated binding protein 2 [ Homo sapiens (human) ]

Gene ID: 9846, updated on 21-Dec-2019

Summary

Official Symbol
GAB2provided by HGNC
Official Full Name
GRB2 associated binding protein 2provided by HGNC
Primary source
HGNC:HGNC:14458
See related
Ensembl:ENSG00000033327 MIM:606203
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
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]
Expression
Ubiquitous expression in brain (RPKM 13.2), bone marrow (RPKM 11.6) and 25 other tissues See more
Orthologs

Genomic context

See GAB2 in Genome Data Viewer
Location:
11q14.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (78215290..78417820, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (77926336..78128868, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene KCTD21 antisense RNA 1 Neighboring gene ALG8 alpha-1,3-glucosyltransferase Neighboring gene RNA, U6 small nuclear 126, pseudogene Neighboring gene potassium channel tetramerization domain containing 21 Neighboring gene ubiquitin specific peptidase 35 Neighboring gene Sharpr-MPRA regulatory region 2371 Neighboring gene uncharacterized LOC105369402 Neighboring gene zinc finger protein 75C, pseudogene Neighboring gene long intergenic non-protein coding RNA 2728 Neighboring gene uncharacterized LOC105369403 Neighboring gene asparaginyl-tRNA synthetase 2, mitochondrial

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers.
NHGRI GWA Catalog
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
Thirty new loci for age at menarche identified by a meta-analysis of genome-wide association studies.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA0571

Gene Ontology Provided by GOA

Function Evidence Code Pubs
phosphatidylinositol-3,4,5-trisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
phosphatidylinositol-3,4-bisphosphate binding ISS
Inferred from Sequence or Structural Similarity
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
transmembrane receptor protein tyrosine kinase adaptor activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
Fc-epsilon receptor signaling pathway TAS
Traceable Author Statement
more info
 
axon guidance TAS
Traceable Author Statement
more info
 
cytokine-mediated signaling pathway TAS
Traceable Author Statement
more info
 
osteoclast differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylinositol-mediated signaling ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of mast cell degranulation ISS
Inferred from Sequence or Structural Similarity
more info
 
transmembrane receptor protein tyrosine kinase signaling pathway IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytosol TAS
Traceable Author Statement
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
GRB2-associated-binding protein 2
Names
Grb2-associated binder 2
growth factor receptor bound protein 2-associated protein 2
pp100

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016171.1 RefSeqGene

    Range
    5001..207533
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_012296.3NP_036428.1  GRB2-associated-binding protein 2 isoform b

    See identical proteins and their annotated locations for NP_036428.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (b) is shorter at the N-terminus, compared to isoform a.
    Source sequence(s)
    AI858080, BC152459, DA674753
    Consensus CDS
    CCDS8260.1
    UniProtKB/Swiss-Prot
    Q9UQC2
    Related
    ENSP00000343959.2, ENST00000340149.6
    Conserved Domains (3) summary
    pfam00169
    Location:478
    PH; PH domain
    cl17171
    Location:188
    PH-like; Pleckstrin homology-like domain
    cl23751
    Location:515601
    Plasmodium_Vir; Plasmodium vivax Vir protein
  2. NM_080491.3NP_536739.1  GRB2-associated-binding protein 2 isoform a

    See identical proteins and their annotated locations for NP_536739.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AP002985, AP003086
    Consensus CDS
    CCDS8259.1
    UniProtKB/Swiss-Prot
    Q9UQC2
    Related
    ENSP00000354952.4, ENST00000361507.5
    Conserved Domains (1) summary
    cl17171
    Location:4126
    PH-like; Pleckstrin homology-like domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    78215290..78417820 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718753.2XP_006718816.1  GRB2-associated-binding protein 2 isoform X2

    See identical proteins and their annotated locations for XP_006718816.1

    UniProtKB/Swiss-Prot
    Q9UQC2
    Conserved Domains (3) summary
    pfam00169
    Location:478
    PH; PH domain
    cl17171
    Location:188
    PH-like; Pleckstrin homology-like domain
    cl23751
    Location:515601
    Plasmodium_Vir; Plasmodium vivax Vir protein
  2. XM_024448782.1XP_024304550.1  GRB2-associated-binding protein 2 isoform X1

    Conserved Domains (1) summary
    cl17171
    Location:8108
    PH-like; Pleckstrin homology-like domain
  3. XM_011545408.3XP_011543710.1  GRB2-associated-binding protein 2 isoform X3

    Conserved Domains (1) summary
    cl23751
    Location:333419
    Plasmodium_Vir; Plasmodium vivax Vir protein
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