Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
9846
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
GRB2 associated binding protein 2 |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
GAB2 |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
- |
Chromosome
Chromosome number
|
11 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
11q14.1 |
Summary
Summary 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 |
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 INLNFCEQVDAGLTFNKKELQDSFVFDIKTSERTFYLVAETEEDMNKWVQSICQICGFNQ AEESTDSLRNVSSAGHGPRSSPAELSSSSQHLLRERKSSAPSHSSQPTLFTFEPPVSNHM QPTLSTSAPQEYLYLHQCISRRAENARSASFSQGTRASFLMRSDTAVQKLAQGNGHCVNG ISGQVHGFYSLPKPSRHNTEFRDSTYDLPRSLASHGHTKGSLTGSETDNEDVYTFKTPSN TLCREFGDLLVDNMDVPATPLSAYQIPRTFTLDKNHNAMTVATPGDSAIAPPPRPPKPSQ AETPRWGSPQQRPPISENSRSVAATIPRRNTLPAMDNSRLHRASSCETYEYPQRGGESAG RSAESMSDGVGSFLPGKMIVGRSDSTNSEDNYVPMNPGSSTLLAMERAGDNSQSVYIPMS PGAHHFDSLGYPSTTLPVHRGPSRGSEIQPPPVNRNLKPDRKAKPTPLDLRNNTVIDELP FKSPITKSWSRANHTFNSSSSQYCRPISTQSITSTDSGDSEENYVPMQNPVSASPVPSGT NSPAPKKSTGSVDYLALDFQPSSPSPHRKPSTSSVTSDEKVDYVQVDKEKTQALQNTMQE WTDVRQSSEPSKGAKL
|
|
Sequence length |
676 |
Interactions |
View interactions
|
Causal |
Disease term |
Disease name |
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, 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 View all (65 more) |
17553421, 21460841 |
Melanoma |
melanoma |
rs121913315, rs121913323, rs137853080, rs137853081, rs121909232, rs121913388, rs104894094, 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 View all (64 more) |
22535842 |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Chronic obstructive pulmonary disease |
Chronic Obstructive Airway Disease |
|
30940143 |
ClinVar |
Testicular Germ Cell Tumor |
Testicular Germ Cell Tumor |
|
|
GWAS |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Diabetes |
Diabetes |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Adenocarcinoma |
Stimulate
|
21552417 |
Adenocarcinoma |
Associate
|
28640357 |
Alzheimer Disease |
Associate
|
17553421, 19204163, 19262956, 20568290, 20634593, 20888920, 21497199, 22273362, 22856364, 23525328, 23724096, 25853819, 26680604, 28650998, 34103633 |
Antiphospholipid Syndrome |
Associate
|
37914735 |
Autoimmune Diseases |
Associate
|
29207374 |
Brain Diseases |
Associate
|
22856364 |
Breast Neoplasms |
Associate
|
16253990, 19838208, 21118992, 21552417, 26126114, 31002135, 31698596 |
Cancer Pain |
Associate
|
29880043 |
Carcinogenesis |
Associate
|
16253990 |
Carcinoma Hepatocellular |
Associate
|
27026230, 36421826 |
Carcinoma Pancreatic Ductal |
Associate
|
28558797 |
Carcinoma Renal Cell |
Associate
|
28412750 |
Carcinoma Squamous Cell |
Associate
|
39354528 |
Cardiomyopathies |
Associate
|
39294340 |
Cerebral Hemorrhage |
Associate
|
30836997 |
Colorectal Neoplasms |
Stimulate
|
26045784 |
Death |
Associate
|
39354528 |
Diffuse Neurofibrillary Tangles with Calcification |
Associate
|
23724096 |
Endometrial Neoplasms |
Associate
|
32619126 |
Endometriosis |
Associate
|
32619126 |
Essential Hypertension |
Associate
|
40140746 |
Fatty Liver |
Associate
|
36421826 |
Ganglioglioma |
Associate
|
29880043 |
Hereditary Breast and Ovarian Cancer Syndrome |
Associate
|
30206415 |
Hypertension |
Associate
|
40140746 |
Inflammation |
Associate
|
37914735 |
Leukemia |
Associate
|
20697350 |
Leukemia Myelogenous Chronic BCR ABL Positive |
Associate
|
16278304, 18235045, 22517119 |
Lung Neoplasms |
Associate
|
21552417 |
Lymphatic Metastasis |
Stimulate
|
26045784 |
Lymphoma |
Associate
|
33883344 |
Lymphoma B Cell |
Associate
|
33883344 |
Lymphoma Large Cell Anaplastic |
Associate
|
30206415 |
Melanoma |
Associate
|
19342374, 19509136, 21552417, 30657954, 33067454 |
Multiple Myeloma |
Associate
|
15010462 |
Neoplasm Metastasis |
Associate
|
19342374, 31002135 |
Neoplasm Metastasis |
Stimulate
|
26045784, 37085900 |
Neoplasms |
Associate
|
19342374, 21118992, 21552417, 24248418, 26354435, 27026230, 28791340, 31002135 |
Neoplasms |
Stimulate
|
26045784 |
Neoplasms Germ Cell and Embryonal |
Associate
|
26503584, 28295819 |
Neoplasms Squamous Cell |
Stimulate
|
21552417 |
Neoplasms Squamous Cell |
Associate
|
28960030 |
Neuritis |
Associate
|
17553421 |
Neuroinflammatory Diseases |
Associate
|
30836997 |
Ovarian Diseases |
Associate
|
32619126 |
Ovarian Neoplasms |
Associate
|
21996746, 37085900 |
Pancreatic Neoplasms |
Associate
|
24248418 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
31102422 |
Prostatic Neoplasms |
Associate
|
32522441 |
Reperfusion Injury |
Associate
|
33660813 |
Sarcoma |
Associate
|
31739284 |
Sarcopenia |
Associate
|
37653517 |
Stomach Neoplasms |
Associate
|
31814524 |
Uveal melanoma |
Associate
|
28791340 |
Vascular Diseases |
Associate
|
37321605 |
Venous Thrombosis |
Stimulate
|
37321605 |
|