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GAB2 (GRB2 associated binding protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9846
Gene nameGene Name - the full gene name approved by the HGNC.
GRB2 associated binding protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GAB2
SynonymsGene synonyms aliases
-
ChromosomeChromosome number
11
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11q14.1
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006161 hsa-let-7g-5p Luciferase reporter assay, Microarray, Western blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assay, Microarray, Western blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assay, Microarray, Western blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assay, Microarray, Western blot 21868760
MIRT006161 hsa-let-7g-5p Luciferase reporter assay, Microarray, Western blot 21868760
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005068 Function Transmembrane receptor protein tyrosine kinase adaptor activity IDA 19172738
GO:0005515 Function Protein binding IPI 15170389, 15750601, 16253990, 19172738, 19380743, 20936779, 21706016, 25416956, 31515488, 31585087, 31980649, 32296183, 32814053
GO:0005547 Function Phosphatidylinositol-3,4,5-trisphosphate binding ISS
GO:0005737 Component Cytoplasm IDA 19172738
GO:0005829 Component Cytosol TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
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
Causal
Disease name Disease term dbSNP ID References
Alzheimer disease Alzheimer`s Disease rs63750215, rs28936379, rs63749851, rs63749884, rs28936380, rs63750048, rs63750579, rs63750264, rs63749964, rs63750671, rs281865161, rs63750066, rs63750399, rs63750734, rs63751039, rs63750973, rs63749810, rs63750643, rs193922916, rs63750306, rs63750590, rs63750526, rs63751235, rs661, rs63751037, rs63749885, rs63750231, rs63751229, rs63751272, rs63751223, rs63750391, rs63751163, rs281875357, rs63751141, rs63750082, rs121917807, rs63751399, rs63750265, rs63751144, rs63750886, rs63751068, rs121917808, rs63749891, rs63750083, rs63749824, rs63750577, rs267606983, rs63750218, rs63751287, rs63750900, rs145518263, rs63751475, rs63750450, rs63749805, rs63751278, rs63751106, rs63750004, rs63749806, rs63751024, rs63750248, rs63750779, rs63751139, rs63750219, rs63750298, rs63750687, rs63750851, rs1553268799, rs1561901881, rs1561905293, rs866101707, rs1566638673, rs63750009, rs1566656702, rs1566657804, rs1567885728, rs1568339995, rs1566630791, rs1555358260, rs63750964, rs1594998354, rs63751316 17553421, 21460841
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30940143
Melanoma melanoma rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, rs1563902635, rs104894095, rs104894097, rs104894098, rs104894099, rs104894109, rs137854599, rs11547328, rs104894340, rs398123152, rs587780668, rs587782083, rs587782206, rs587782792, rs180177042, rs121913381, rs730881675, rs730881674, rs730881677, rs730881673, rs1800586, rs768966657, rs587778189, rs786204195, rs121913321, rs45476696, rs864622636, rs864622263, rs869025340, rs876660436, rs876658534, rs876658556, rs878853647, rs878853644, rs878853650, rs886041162, rs121913389, rs1057519852, rs121913384, rs121913387, rs1060501266, rs1060501263, rs1060501262, rs749714198, rs1060501265, rs559848002, rs1064794292, rs1131691187, rs1131691186, rs199907548, rs1554654052, rs1554656411, rs1554656624, rs1554653915, rs1554653956, rs1554656253, rs1554654224, rs754806883, rs1057520039, rs1563889584, rs1563889685, rs1287464120, rs1563888944, rs1563892715, rs1563889847, rs141798398, rs1587332338, rs1587340291, rs11552823, rs561034503, rs138677674, rs1819962958, rs1820531050 22535842
Unknown
Disease name Disease term dbSNP ID References
Testicular germ cell tumor Testicular Germ Cell Tumor 26503584

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