GAB2 (GRB2-associated binding protein 2)

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GAB2 (GRB2-associated binding protein 2)

Written	2010-01	Tilman Brummer
		Centre for Biological Systems Analysis (ZBSA), Institute for Biology III, Cluster of Excellence 294 bioss, Albert-Ludwigs-University of Freiburg, Germany

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)	KIAA0571
Other alias
HGNC (Hugo)	GAB2
LocusID (NCBI)	9846
Atlas_Id	40664
Location	11q14.1 [Link to chromosome band 11q14]
Location_base_pair	Starts at 78215290 and ends at 78417822 bp from pter ( according to hg19-Feb_2009) [Mapping GAB2.png]
Local_order	Between the USP35 (ubiquitin specific peptidase 35) and LOC100128085 (hypothetical protein LOC100128085) genes.

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

ARRB1 (11q13.4) / GAB2 (11q14.1)	DIXDC1 (11q23.1) / GAB2 (11q14.1)	FUT10 (8p12) / GAB2 (11q14.1)
GAB2 (11q14.1) / FGF7 (15q21.2)	GAB2 (11q14.1) / GAB2 (11q14.1)	GAB2 (11q14.1) / GAL (11q13.3)
GAB2 (11q14.1) / MYO7A (11q13.5)	GAB2 (11q14.1) / NARS2 (11q14.1)	GAB2 (11q14.1) / PLXDC1 (17q12)
GAB2 (11q14.1) / PXN (12q24.23)	GAB2 (11q14.1) / ST7 (7q31.2)	GAB2 (11q14.1) / TENM4 (11q14.1)
GAB2 (11q14.1) / THRSP (11q14.1)	INTS4 (11q14.1) / GAB2 (11q14.1)	MRPL48 (11q13.4) / GAB2 (11q14.1)
MYO7A (11q13.5) / GAB2 (11q14.1)	NSD3 (8p11.23) / GAB2 (11q14.1)	SGMS1 (10q11.23) / GAB2 (11q14.1)
SRGAP1 (12q14.2) / GAB2 (11q14.1)

DNA/RNA

Description	The GAB2 gene is composed of 10 exons spanning a region of 222666 bp (see Mapping for details).
Pseudogene	Not known.

Protein

Note	PubMed predicts two distinct subtypes encoded by alternative transcripts. The variant GRB2-associated binding protein 2 isoform b contains an alternate exon 1 compared to transcript variant 1. It maintains the same reading frame, but encodes the shorter isoform (b), which lacks aa 1-38 of isoform a (for details see AA865573, AB011143).

Description	Amino acids: 766. Calculated molecular mass: 74,327 kDa. However, presumably due to its richness in proline residues and its high degree of phosphorylation, GAB2 usually runs around 95 kDa in conventional SDS-PAGE gels. GAB2 protein isolated from cells stimulated via growth factors, cytokines or antigen receptors exhibit a prominent electrophoretic mobility shift, which reflects the high degree of feedback phosphorylation events at Ser/thr-residues. This protein is a member of the GRB2-associated binding protein (GAB)/daughter-of-sevenless (DOS) family and is similar to the well studied GAB1 protein. These docking proteins contain pleckstrin homology (PH) domain, and are recruited to various receptors via small adaptor proteins such as the GRB2 adapter protein.
Expression	At low levels, GAB2 is presumably expressed in a wide range of tissues and cell types. Prominent expression is observed in various hematopoietic and neuronal lineages. Aberrant overexpression has been observed in various malignancies such as breast cancer, melanoma, acute myeloid leukemia, ovarian and gastric carcinoma.
Localisation	Mainly cytoplasmic in unstimulated cells, however this protein is recruited to the plasmamembrane by various stimuli. This recruitment process requires either the PH domain and/or the small adaptor protein GRB2, either alone or in conjunction with adaptor proteins of the SHC family.
Function	Gab/DOS proteins integrate and amplify signals from growth factor, cytokine and antigen receptors as well as from cell adhesion molecules. They also diversify signals by channelling the input information from activated receptors into signalling pathways with distinct biological functions. Gab proteins are subject to a complex regulation by feed-forward and feedback phosphorylation events as well as protein-protein interactions. Gab/DOS docking proteins organise entire signalling subsystems and thereby fulfil an important if not essential role in many physiological processes. GAB2 is implicated in various differentiation processes within the hematopoietic and nervous systems. In particular, GAB2 deficient mice display impaired osteoclast development and consequently display osteopetrosis. GAB2 is also essential for the FceRI-mediated degranulation of murine mast cells. Aberrant expression and/or signalling by GAB2 has been increasingly linked to human diseases from various forms of neoplasia over inflammation to Alzheimer's disease. A detailed recent review on GAB2 can be found in Wohrle et al. (2009a).
Homology	The closest relative is the putative product of the GAB4 gene, followed by the well studied GAB1 and less studied GAB3 protein. Gab-like proteins have been also identified in Drosophila melanogaster (daughter-of-seveless (DOS)) and Caenorhabditis elegans (Suppressor-of-clear 1 (SOC1)).

Mutations

Germinal	No germinal mutations described.
Somatic	One somatic missense mutation has been reported in the COSMIC database leading to replacement of P161 by a leucine residue. The functional consequences have not been addressed yet. For details see: http://www.sanger.ac.uk/perl/genetics/CGP/cosmic?action=mut_summary&id=26943.

Implicated in

Note

Entity	Breast cancer
Note	GAB2 is frequently over-expressed in human breast cancer cell lines and primary tumours. Overexpression of GAB2 has been shown to be an early event in breast cancer development. In response to EGF, insulin and bFGF stimulation, GAB2 becomes tyrosine phosphorylated indicating that these RTKs, which are implicated in breast cancer development or progression, use this docking protein to amplify their signals. There might be several, not necessarily mutually exclusive mechanisms by which GAB2 is up-regulated in breast cancer such as the amplification of the GAB2 locus, which resides in a region commonly amplified in breast cancers or the aberrant activity of the E2F transcription factor, which is often dysregulated in tumours and binds directly to the human GAB2 promoter. Furthermore, the expression of both GAB2 mRNA and protein is induced by estradiol in an estrogen receptor-dependent manner. Modelling GAB2 expression levels to those observed in breast cancer in the immortalised, but non-transformed, human mammary epithelial cell MCF-10A implies that overexpression of this docking protein contributes to various aspects of malignant transformation such as increased proliferation and reduced growth factor requirements. Studies from various laboratories using the MCF-10A model system as well as transgenic mouse models suggest that GAB2 also cooperates with other oncogenes implicated in breast cancer development such as HER2 and SRC. Indeed, a recent study by Bocanegra et al. (2009) has shown that small interfering RNA (siRNA)-mediated knockdown of GAB2 in breast cancer lines with GAB2 amplification revealed a dependency on GAB2 for cell proliferation, cell-cycle progression, survival and invasion, likely mediated through altered phosphatidylinositol 3-kinase (PI3K) and mitogen-activated protein kinase (MAPK) signaling. These findings are in agreement with studies in MCF-10A cells in which ectopically expressed GAB2 affects these biological parameters via the same effector pathways. GAB2 knockdown also impaired the proliferation and survival in the BT474 cell line, which contains a ERBB2 amplification, consistent with previous studies implicating GAB2 as an important downstream effector of this receptor tyrosine kinase.


Entity	Melanoma
Note	Two recent studies implicate GAB2 in malignant melanoma. Firstly, Horst et al. (2009) have shown that the GAB2 gene is amplified and/or over-expressed in 11% and 50% of human metastatic melanomas, respectively. Moreover, Chernoff et al. (2009) demonstrated that GAB2 amplification is associated with melanoma arising from sun-protected sites and often occurs independently from oncogenic NRAS or BRAF mutations or amplification of the KIT gene. Importantly, knockdown and over-expression experiments revealed that GAB2 enhances the migratory and invasive behaviour of melanoma cells. In contrast to metastatic melanoma, normal human melanocyte lines, melanocytic nevi and primary melanomas displayed low GAB2 expression levels suggesting that GAB2 overexpression might represent a marker of neoplastic progression.


Entity	Myeloid leukemias
Note	The first evidence for a critical contribution of GAB2 to leukemogenesis was the observation that myeloid progenitors from GAB2-deficient mice are resistant to transformation by the BCR-ABL oncoprotein, which arises from a chromosomal translocation found in more than 90% of patients with chronic myeloid leukaemia (CML). Phosphorylation of Y177 within the BCR moiety leads to recruitment of the GRB2/GAB2 complex and downstream signalling via SHP2 and PI3K, two crucial events for enhanced proliferation and survival. Similarly, the oncogenic BCR-FGFR1 fusion protein, which consists of a BCR-derived moiety and the tyrosine kinase domain of the fibroblast growth factor receptor 1 (FGFR1), drives the tyrosine phosphorylation of GAB2 in murine bone marrow cells and their malignant transformation through phospho-Y177 mediated GRB2 association. These findings suggest that GRB2-mediated recruitment of GAB2 to oncogenic fusion protein tyrosine kinases is a critical event for the induction of a CML-like disease. The contribution of GAB2 to BCR-ABL signaling is further supported by the observation that shRNA-mediated silencing of endogenous GAB2 inhibits proliferation and colony formation of CD34+ cells from CML patients. GAB2 is also involved in the pathogenesis of several other leukemias. The oncogenic fusion kinases TEL-ABL and TEL-JAK2 engage GAB2 in a similar manner as BCR-ABL. The gene encoding the GAB2 interaction partner SHP2, represents the most common target of somatic mutations in juvenile myelomonocytic leukemia (JMML), a rare, albeit aggressive myelo-proliferative disorder occurring in children. The most frequently JMML-associated mutation, E76K, confers enhanced catalytic activity to SHP2 and requires GAB2 for transformation of primary murine myeloid progenitors.


Entity	Other neoplasia
Note	Amplification and/or over-expression of the human GAB2 gene has been also recently reported for ovarian and gastric carcinoma as well as for acute myeloid leukemia (AML). However, additional functional studies are needed to dissect the role that GAB2 plays in these malignancies.

Breakpoints

Note	Not known.

Bibliography

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Hum Mol Genet. 2009 Oct 15;18(R2):R137-45. (REVIEW)

PMID 19808789

Focal amplification and oncogene dependency of GAB2 in breast cancer.

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PMID 19881546

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PMID 18314909

Phosphorylation-dependent binding of 14-3-3 terminates signalling by the Gab2 docking protein.

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PMID 19172738

Increased proliferation and altered growth factor dependence of human mammary epithelial cells overexpressing the Gab2 docking protein.

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PMID 16253990

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PMID 19015024

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PMID 18272374

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PMID 15574337

GAB2 amplifications refine molecular classification of melanoma.

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Clin Cancer Res. 2009 Jul 1;15(13):4288-91. Epub 2009 Jun 9.

PMID 19509136

The docking protein Gab2 is overexpressed and estrogen regulated in human breast cancer.

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Oncogene. 2002 Aug 1;21(33):5175-81.

PMID 12140767

Regulation of the Erk2-Elk1 signaling pathway and megakaryocytic differentiation of Bcr-Abl(+) K562 leukemic cells by Gab2.

Dorsey JF, Cunnick JM, Mane SM, Wu J.

Blood. 2002 Feb 15;99(4):1388-97.

PMID 11830491

Overexpression of the oncogenic signal transducer Gab2 occurs early in breast cancer development.

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PMID 20087860

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PMID 17894413

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PMID 9885561

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PMID 11449275

Distinct binding modes of two epitopes in Gab2 that interact with the SH3C domain of Grb2.

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Structure. 2009 Jun 10;17(6):809-22.

PMID 19523899

Gab2-mediated signaling promotes melanoma metastasis.

Horst B, Gruvberger-Saal SK, Hopkins BD, Bordone L, Yang Y, Chernoff KA, Uzoma I, Schwipper V, Liebau J, Nowak NJ, Brunner G, Owens D, Rimm DL, Parsons R, Celebi JT.

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PMID 19342374

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PMID 19118819

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Oncogene. 2007 Jul 26;26(34):4951-60. Epub 2007 Feb 19.

PMID 17310989

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Proc Natl Acad Sci U S A. 2009 Feb 17;106(7):2325-30. Epub 2009 Jan 26.

PMID 19171907

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Pathology. 2007 Jun;39(3):326-9.

PMID 17558859

GAB2 is not associated with late-onset Alzheimer's disease in Chinese Han.

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Neurol Sci. 2009 Nov 19. [Epub ahead of print]

PMID 19924507

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Lynch DK, Daly RJ.

EMBO J. 2002 Jan 15;21(1-2):72-82.

PMID 11782427

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PMID 17053833

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PMID 18950707

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PMID 19049823

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PMID 17553421

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PMID 12124177

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PMID 16278304

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PMID 19204163

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PMID 18853460

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PMID 18071309

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PMID 15750601

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PMID 19737390

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PMID 18235045

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PMID 17804714

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PMID 16736498

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PMID 17374739

Citation

This paper should be referenced as such :

Brummer, T

GAB2 (GRB2-associated binding protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2010;14(10):962-965.

Free journal version : [ pdf ] [ DOI ]

On line version : http://AtlasGeneticsOncology.org/Genes/GAB2ID40664ch11q14.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]

MLL amplification in leukemia

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 14 ]

Lung: Translocations in Small Cell Carcinoma
t(8;11)(p12;q14) FUT10/GAB2
t(10;11)(q11;q14) SGMS1/GAB2
t(11;11)(q13;q14) ARRB1/GAB2
t(11;11)(q13;q14) GAB2/MYO7A
t(11;11)(q13;q14) MYO7A/GAB2
t(11;11)(q14;q14) GAB2/TENM4
t(11;11)(q14;q14) GAB2/THRSP
t(11;11)(q14;q14) INTS4/GAB2
t(11;11)(q14;q14) GAB2/NARS2
t(11;11)(q14;q23) DIXDC1/GAB2
t(11;12)(q14;q14) SRGAP1/GAB2
t(11;15)(q14;q21) GAB2/FGF7
t(11;17)(q14;q12) GAB2/PLXDC1

External links

	Nomenclature
HGNC (Hugo)	GAB2 14458
	Cards
Atlas	GAB2ID40664ch11q14
Entrez_Gene (NCBI)	GAB2 9846 GRB2 associated binding protein 2
Aliases
GeneCards (Weizmann)	GAB2
Ensembl hg19 (Hinxton)	ENSG00000033327 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000033327 [Gene_View] chr11:78215290-78417822 [Contig_View] GAB2 [Vega]
ICGC DataPortal	ENSG00000033327
TCGA cBioPortal	GAB2
AceView (NCBI)	GAB2
Genatlas (Paris)	GAB2
WikiGenes	9846
SOURCE (Princeton)	GAB2
Genetics Home Reference (NIH)	GAB2
	Genomic and cartography
GoldenPath hg38 (UCSC)	GAB2 - chr11:78215290-78417822 - 11q14.1 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	GAB2 - 11q14.1 [Description] (hg19-Feb_2009)
Ensembl	GAB2 - 11q14.1 [CytoView hg19] GAB2 - 11q14.1 [CytoView hg38]
Mapping of homologs : NCBI	GAB2 [Mapview hg19] GAB2 [Mapview hg38]
OMIM	606203
	Gene and transcription
Genbank (Entrez)	AA865573 AB011143 AB018413 AI858080 BC131711
RefSeq transcript (Entrez)	NM_012296 NM_080491
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)	GAB2
Cluster EST : Unigene	Hs.429434 [ NCBI ]
CGAP (NCI)	Hs.429434
Alternative Splicing Gallery	ENSG00000033327
Gene Expression	GAB2 [ NCBI-GEO ] GAB2 [ EBI - ARRAY_EXPRESS ] GAB2 [ SEEK ] GAB2 [ MEM ]
Gene Expression Viewer (FireBrowse)	GAB2 [ Firebrowse - Broad ]
SOURCE (Princeton)	Expression in : [Datasets] [Normal Tissue Atlas] [carcinoma Classsification] [NCI60]
Genevestigator	Expression in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	9846
GTEX Portal (Tissue expression)	GAB2
Human Protein Atlas	ENSG00000033327-GAB2 [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q9UQC2 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q9UQC2 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q9UQC2
Splice isoforms : SwissVar	Q9UQC2
PhosPhoSitePlus	Q9UQC2
Domaine pattern : Prosite (Expaxy)	PH_DOMAIN (PS50003)
Domains : Interpro (EBI)	PH_dom-like PH_domain
Domain families : Pfam (Sanger)	PH (PF00169)
Domain families : Pfam (NCBI)	pfam00169
Domain families : Smart (EMBL)	PH (SM00233)
Conserved Domain (NCBI)	GAB2
DMDM Disease mutations	9846
Blocks (Seattle)	GAB2
PDB (SRS)	2VWF 2W0Z 5EWZ 5EXA
PDB (PDBSum)	2VWF 2W0Z 5EWZ 5EXA
PDB (IMB)	2VWF 2W0Z 5EWZ 5EXA
PDB (RSDB)	2VWF 2W0Z 5EWZ 5EXA
Structural Biology KnowledgeBase	2VWF 2W0Z 5EWZ 5EXA
SCOP (Structural Classification of Proteins)	2VWF 2W0Z 5EWZ 5EXA
CATH (Classification of proteins structures)	2VWF 2W0Z 5EWZ 5EXA
Superfamily	Q9UQC2
Human Protein Atlas [tissue]	ENSG00000033327-GAB2 [tissue]
Peptide Atlas	Q9UQC2
HPRD	05866
IPI	IPI00186990 IPI00749276 IPI00981102 IPI00977608
	Protein Interaction databases
DIP (DOE-UCLA)	Q9UQC2
IntAct (EBI)	Q9UQC2
FunCoup	ENSG00000033327
BioGRID	GAB2
STRING (EMBL)	GAB2
ZODIAC	GAB2
	Ontologies - Pathways
QuickGO	Q9UQC2
Ontology : AmiGO	transmembrane receptor protein tyrosine kinase adaptor activity protein binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm cytosol plasma membrane transmembrane receptor protein tyrosine kinase signaling pathway axon guidance positive regulation of cell proliferation cytokine-mediated signaling pathway osteoclast differentiation Fc-epsilon receptor signaling pathway positive regulation of mast cell degranulation phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-mediated signaling
Ontology : EGO-EBI	transmembrane receptor protein tyrosine kinase adaptor activity protein binding phosphatidylinositol-3,4,5-trisphosphate binding cytoplasm cytosol plasma membrane transmembrane receptor protein tyrosine kinase signaling pathway axon guidance positive regulation of cell proliferation cytokine-mediated signaling pathway osteoclast differentiation Fc-epsilon receptor signaling pathway positive regulation of mast cell degranulation phosphatidylinositol-3,4-bisphosphate binding phosphatidylinositol-mediated signaling
Pathways : KEGG	Fc epsilon RI signaling pathway
REACTOME	Q9UQC2 [protein]
REACTOME Pathways	R-HSA-912526 [pathway]
NDEx Network	GAB2
Atlas of Cancer Signalling Network	GAB2
Wikipedia pathways	GAB2
	Orthology - Evolution
OrthoDB	9846
GeneTree (enSembl)	ENSG00000033327
Phylogenetic Trees/Animal Genes : TreeFam	GAB2
HOVERGEN	Q9UQC2
HOGENOM	Q9UQC2
Homologs : HomoloGene	GAB2
Homology/Alignments : Family Browser (UCSC)	GAB2
	Gene fusions - Rearrangements
Fusion : Mitelman	ARRB1/GAB2 [11q13.4/11q14.1] [t(11;11)(q13;q14)]
Fusion : Mitelman	DIXDC1/GAB2 [11q23.1/11q14.1] [t(11;11)(q14;q23)]
Fusion : Mitelman	FUT10/GAB2 [8p12/11q14.1] [t(8;11)(p12;q14)]
Fusion : Mitelman	GAB2/FGF7 [11q14.1/15q21.2] [t(11;15)(q14;q21)]
Fusion : Mitelman	GAB2/MYO7A [11q14.1/11q13.5] [t(11;11)(q13;q14)]
Fusion : Mitelman	GAB2/NARS2 [11q14.1/11q14.1] [t(11;11)(q14;q14)]
Fusion : Mitelman	GAB2/PLXDC1 [11q14.1/17q12] [t(11;17)(q14;q12)]
Fusion : Mitelman	GAB2/TENM4 [11q14.1/11q14.1] [t(11;11)(q14;q14)]
Fusion : Mitelman	GAB2/THRSP [11q14.1/11q14.1] [t(11;11)(q14;q14)]
Fusion : Mitelman	INTS4/GAB2 [11q14.1/11q14.1] [del(11)(q14)] [del(11)(q14q14)]
	[t(11;11)(q14;q14)]
Fusion : Mitelman	MYO7A/GAB2 [11q13.5/11q14.1] [t(11;11)(q13;q14)]
Fusion : Mitelman	SGMS1/GAB2 [10q11.23/11q14.1] [t(10;11)(q11;q14)]
Fusion : Mitelman	SRGAP1/GAB2 [12q14.2/11q14.1] [t(11;12)(q14;q14)]
Fusion : Mitelman	WHSC1L1/GAB2 [8p11.23/11q14.1] [t(8;11)(p12;q14)]
Fusion : COSMIC	INTS4 [11q14.1] - GAB2 [11q14.1] [fusion_685] [fusion_686]
Fusion: TCGA_MDACC	ARRB1 11q13.4 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	DIXDC1 11q23.1 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	FUT10 8p12 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	GAB2 11q14.1 FGF7 15q21.2 SKCM
Fusion: TCGA_MDACC	GAB2 11q14.1 MYO7A 11q13.5 BRCA
Fusion: TCGA_MDACC	GAB2 11q14.1 ODZ4 BRCA
Fusion: TCGA_MDACC	GAB2 11q14.1 PLXDC1 17q12 BRCA
Fusion: TCGA_MDACC	GAB2 11q14.1 THRSP 11q14.1 BRCA
Fusion: TCGA_MDACC	INTS4 11q14.1 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	MYO7A 11q13.5 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	SGMS1 10q11.23 GAB2 11q14.1 LUAD
Fusion: TCGA_MDACC	SRGAP1 12q14.2 GAB2 11q14.1 BRCA
Fusion: TCGA_MDACC	WHSC1L1 8p11.23 GAB2 11q14.1 BRCA
Fusion Portal	ARRB1 11q13.4 GAB2 11q14.1 BRCA
Fusion Portal	DIXDC1 11q23.1 GAB2 11q14.1 BRCA
Fusion Portal	FUT10 8p12 GAB2 11q14.1 BRCA
Fusion Portal	GAB2 11q14.1 FGF7 15q21.2 SKCM
Fusion Portal	GAB2 11q14.1 MYO7A 11q13.5 BRCA
Fusion Portal	GAB2 11q14.1 ODZ4 BRCA
Fusion Portal	GAB2 11q14.1 PLXDC1 17q12 BRCA
Fusion Portal	GAB2 11q14.1 THRSP 11q14.1 BRCA
Fusion Portal	INTS4 11q14.1 GAB2 11q14.1 BRCA
Fusion Portal	MYO7A 11q13.5 GAB2 11q14.1 BRCA
Fusion Portal	SGMS1 10q11.23 GAB2 11q14.1 LUAD
Fusion Portal	SRGAP1 12q14.2 GAB2 11q14.1 BRCA
Fusion Portal	WHSC1L1 8p11.23 GAB2 11q14.1 BRCA
Fusion : Quiver	GAB2
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	GAB2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	GAB2
dbVar	GAB2
ClinVar	GAB2
1000_Genomes	GAB2
Exome Variant Server	GAB2
ExAC (Exome Aggregation Consortium)	ENSG00000033327
GNOMAD Browser	ENSG00000033327
Genetic variants : HAPMAP	9846
Genomic Variants (DGV)	GAB2 [DGVbeta]
DECIPHER	GAB2 [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	GAB2
	Mutations
ICGC Data Portal	GAB2
TCGA Data Portal	GAB2
Broad Tumor Portal	GAB2
OASIS Portal	GAB2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMIC	GAB2 [overview] [genome browser] [tissue] [distribution]
Mutations and Diseases : HGMD	GAB2
LOVD (Leiden Open Variation Database)	Whole genome datasets
LOVD (Leiden Open Variation Database)	LOVD 3.0 shared installation
BioMuta	search GAB2
DgiDB (Drug Gene Interaction Database)	GAB2
DoCM (Curated mutations)	GAB2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)	GAB2 (select a term)
intoGen	GAB2
NCG5 (London)	GAB2
Cancer3D	GAB2(select the gene name)
Impact of mutations	[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	606203
Orphanet
DisGeNET	GAB2
Medgen	GAB2
Genetic Testing Registry	GAB2
NextProt	Q9UQC2 [Medical]
TSGene	9846
GENETests	GAB2
Target Validation	GAB2
Huge Navigator	GAB2 [HugePedia]
snp3D : Map Gene to Disease	9846
BioCentury BCIQ	GAB2
ClinGen	GAB2
	Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD	9846
Chemical/Pharm GKB Gene	PA28478
Clinical trial	GAB2
	Miscellaneous
canSAR (ICR)	GAB2 (select the gene name)
	Probes
	Litterature
PubMed	134 Pubmed reference(s) in Entrez
GeneRIFs	Gene References Into Functions (Entrez)
CoreMine	GAB2
EVEX	GAB2
GoPubMed	GAB2
iHOP	GAB2

REVIEW articles	automatic search in PubMed
Last year publications	automatic search in PubMed

Search in all EBI NCBI

indexed on : Wed Feb 28 13:54:30 CET 2018

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