Gene Gene information from NCBI Gene database.
Entrez ID 9846
Gene name GRB2 associated binding protein 2
Gene symbol GAB2
Synonyms (NCBI Gene)
-
Chromosome 11
Chromosome location 11q14.1
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 r
miRNA miRNA information provided by mirtarbase database.
244
miRTarBase ID miRNA Experiments Reference
MIRT006161 hsa-let-7g-5p Luciferase reporter assayMicroarrayWestern blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assayMicroarrayWestern blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assayMicroarrayWestern blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assayMicroarrayWestern blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assayMicroarrayWestern blot 21868760
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IBA
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IDA 19172738
GO:0005515 Function Protein binding IPI 15170389, 15750601, 16253990, 19172738, 19380743, 19523899, 20936779, 21706016, 25416956, 31515488, 31585087, 31980649, 32296183, 32814053, 33961781, 36931259
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding ISS
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606203 14458 ENSG00000033327
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UQC2
Protein name GRB2-associated-binding protein 2 (GRB2-associated binder 2) (Growth factor receptor bound protein 2-associated protein 2) (pp100)
Protein 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 TNFRSF1
PDB 2VWF , 2W0Z , 5EWZ , 5EXA , 6Y3R , 6Y3S , 6ZVB , 6ZVC , 6ZVD , 6ZVE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00169 PH 7 117 PH domain Domain
Sequence
MSGGGDVVCTGWLRKSPPEKKLRRYAWKKRWFILRSGRMSGDPDVLEYYKNDHSKKPLRI
INLNFCEQVDAGLTFNKKELQDSFVFDIKTSERTFYLVAETEEDMNKWVQSICQICG
FNQ
AEESTDSLRNVSSAGHGPRSSPAELSSSSQHLLRERKSSAPSHSSQPTLFTFEPPVSNHM
QPTLSTSAPQEYLYLHQCISRRAENARSASFSQGTRASFLMRSDTAVQKLAQGNGHCVNG
ISGQVHGFYSLPKPSRHNTEFRDSTYDLPRSLASHGHTKGSLTGSETDNEDVYTFKTPSN
TLCREFGDLLVDNMDVPATPLSAYQIPRTFTLDKNHNAMTVATPGDSAIAPPPRPPKPSQ
AETPRWGSPQQRPPISENSRSVAATIPRRNTLPAMDNSRLHRASSCETYEYPQRGGESAG
RSAESMSDGVGSFLPGKMIVGRSDSTNSEDNYVPMNPGSSTLLAMERAGDNSQSVYIPMS
PGAHHFDSLGYPSTTLPVHRGPSRGSEIQPPPVNRNLKPDRKAKPTPLDLRNNTVIDELP
FKSPITKSWSRANHTFNSSSSQYCRPISTQSITSTDSGDSEENYVPMQNPVSASPVPSGT
NSPAPKKSTGSVDYLALDFQPSSPSPHRKPSTSSVTSDEKVDYVQVDKEKTQALQNTMQE
WTDVRQSSEPSKGAKL
Sequence length 676
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ras signaling pathway
Sphingolipid signaling pathway
Phospholipase D signaling pathway
Osteoclast differentiation
Fc epsilon RI signaling pathway
Fc gamma R-mediated phagocytosis
Chronic myeloid leukemia
  PI3K Cascade
Signaling by SCF-KIT
Signaling by cytosolic FGFR1 fusion mutants
Role of LAT2/NTAL/LAB on calcium mobilization
RET signaling
Interleukin receptor SHC signaling
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
9
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LATE-ONSET ALZHEIMER'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MELANOMA CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alzheimer Disease Alzheimer disease Pubtator 17553421, 19204163, 19262956, 20568290, 20634593, 20888920, 21497199, 22273362, 22856364, 23525328, 23724096, 25853819, 26680604, 28650998, 34103633 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Alzheimer Disease, Late Onset Alzheimer disease BEFREE 17553421, 18854865, 19118819, 19924507, 20888920, 21108942, 21132329, 22273362, 22856364, 23724096, 25853819
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASCAT_DG 17553421
★☆☆☆☆
Found in Text Mining only
Alzheimer`s Disease Alzheimer disease GWASDB_DG 17553421, 21460841
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28558797
★☆☆☆☆
Found in Text Mining only
Antiphospholipid Syndrome Antiphospholipid syndrome Pubtator 37914735 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 29207374
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune disease Pubtator 29207374 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 28842424
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 22856364 Associate
★☆☆☆☆
Found in Text Mining only