Human Gene GAB2 (ENST00000361507.5_7) from GENCODE V47lift37
  Description: GRB2 associated binding protein 2, transcript variant 1 (from RefSeq NM_080491.3)
Gencode Transcript: ENST00000361507.5_7
Gencode Gene: ENSG00000033327.13_14
Transcript (Including UTRs)
   Position: hg19 chr11:77,926,339-78,128,866 Size: 202,528 Total Exon Count: 10 Strand: -
Coding Region
   Position: hg19 chr11:77,930,318-78,128,766 Size: 198,449 Coding Exon Count: 10 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr11:77,926,339-78,128,866)mRNA (may differ from genome)Protein (676 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: GAB2_HUMAN
DESCRIPTION: RecName: Full=GRB2-associated-binding protein 2; AltName: Full=GRB2-associated binder 2; AltName: Full=Growth factor receptor bound protein 2-associated protein 2; AltName: Full=pp100;
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 TNFRSF11A/RANK signaling. In allergic response, it plays a role in mast cells activation and degranulation through PI-3-kinase regulation. Also involved in the regulation of cell proliferation and hematopoiesis.
SUBUNIT: Interacts with SHC1; may mediate interaction with receptors (By similarity). Interacts with SYK (By similarity). Interacts with PI-3 kinase. Interacts with GRB2 (via SH3 2 domain). Interacts (phosphorylated) with PTPN11. Interacts with TNFRSF11A (via cytoplasmic domain). Interacts (phosphorylated) with 14-3-3 family proteins SFN, YWHAB, YWHAE, YWHAG, YWHAH, YWHAQ and YWHAZ; prevents interaction with GRB2 and attenuates GAB2 signaling. Interacts with HCK.
INTERACTION: P62993:GRB2; NbExp=4; IntAct=EBI-975200, EBI-401755;
SUBCELLULAR LOCATION: Cytoplasm. Cell membrane.
DOMAIN: The SH3-binding motifs mediate interaction with SHC1 and GRB2 (By similarity).
DOMAIN: The PH domain mediates phosphatidylinositol 3,4,5- trisphosphate and phosphatidylinositol 3,4-bisphosphate binding (By similarity).
PTM: Phosphorylated on tyrosine residue(s) by the thrombopoietin receptor (TPOR), stem cell factor receptor (SCFR), and T-cell and B-cell antigen receptors, gp130, IL-2R and IL-3R (By similarity). Phosphorylated upon stimulation of TNFRSF11A/RANK by TNFSF11/RANKL (By similarity). Phosphorylated upon EGF stimulation. Phosphorylated on tyrosine residues by HCK upon IL6 signaling.
PTM: Dephosphorylated by PTPN11.
SIMILARITY: Belongs to the GAB family.
SIMILARITY: Contains 1 PH domain.
SEQUENCE CAUTION: Sequence=BAA25497.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GAB2
Diseases sorted by gene-association score: cellular congenital mesoblastic nephroma (9), louse-borne relapsing fever (7), leukemia, chronic myeloid, somatic (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 27.80 RPKM in Brain - Spinal cord (cervical c-1)
Total median expression: 512.02 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -47.60100-0.476 Picture PostScript Text
3' UTR -1507.903979-0.379 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology

Pfam Domains:
PF00169 - PH domain

SCOP Domains:
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
2VWF - X-ray MuPIT 2W0Z - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on Q9UQC2
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologGenome BrowserNo ortholog
Gene DetailsGene Details Gene DetailsGene Details 
Gene SorterGene Sorter Gene SorterGene Sorter 
 RGDEnsembl WormBase 
    Protein Sequence 
    Alignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005068 transmembrane receptor protein tyrosine kinase adaptor activity
GO:0005515 protein binding
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding
GO:0043325 phosphatidylinositol-3,4-bisphosphate binding

Biological Process:
GO:0007169 transmembrane receptor protein tyrosine kinase signaling pathway
GO:0007411 axon guidance
GO:0008284 positive regulation of cell proliferation
GO:0019221 cytokine-mediated signaling pathway
GO:0030316 osteoclast differentiation
GO:0038095 Fc-epsilon receptor signaling pathway
GO:0043306 positive regulation of mast cell degranulation
GO:0048015 phosphatidylinositol-mediated signaling

Cellular Component:
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane
GO:0016020 membrane


-  Descriptions from all associated GenBank mRNAs
  BC152459 - Homo sapiens GRB2-associated binding protein 2, mRNA (cDNA clone MGC:176716 IMAGE:8862595), complete cds.
AB011143 - Homo sapiens KIAA0571 mRNA for KIAA0571 protein.
AB018413 - Homo sapiens mRNA for Gab2, complete cds.
BC131711 - Homo sapiens GRB2-associated binding protein 2, mRNA (cDNA clone MGC:150554 IMAGE:40122341), complete cds.
KJ892866 - Synthetic construct Homo sapiens clone ccsbBroadEn_02260 GAB2 gene, encodes complete protein.
AB384499 - Synthetic construct DNA, clone: pF1KA0571, Homo sapiens GAB2 gene for GRB2-associated-binding protein 2, complete cds, without stop codon, in Flexi system.
BC008822 - Homo sapiens GRB2-associated binding protein 2, mRNA (cDNA clone IMAGE:4131109), **** WARNING: chimeric clone ****.
JD487634 - Sequence 468658 from Patent EP1572962.
JD506109 - Sequence 487133 from Patent EP1572962.
JD457725 - Sequence 438749 from Patent EP1572962.
JD372494 - Sequence 353518 from Patent EP1572962.
JD369233 - Sequence 350257 from Patent EP1572962.
JD398070 - Sequence 379094 from Patent EP1572962.
JD187983 - Sequence 169007 from Patent EP1572962.
JD333926 - Sequence 314950 from Patent EP1572962.
JD152873 - Sequence 133897 from Patent EP1572962.
JD122525 - Sequence 103549 from Patent EP1572962.
JD344777 - Sequence 325801 from Patent EP1572962.
DQ571405 - Homo sapiens piRNA piR-31517, complete sequence.
JD365389 - Sequence 346413 from Patent EP1572962.
JD071428 - Sequence 52452 from Patent EP1572962.
JD202982 - Sequence 184006 from Patent EP1572962.
JD400517 - Sequence 381541 from Patent EP1572962.
JD121792 - Sequence 102816 from Patent EP1572962.
JD300537 - Sequence 281561 from Patent EP1572962.
JD176122 - Sequence 157146 from Patent EP1572962.
JD047983 - Sequence 29007 from Patent EP1572962.
DQ592256 - Homo sapiens piRNA piR-59368, complete sequence.
DQ592255 - Homo sapiens piRNA piR-59367, complete sequence.
JD236576 - Sequence 217600 from Patent EP1572962.
JD373771 - Sequence 354795 from Patent EP1572962.
JD196923 - Sequence 177947 from Patent EP1572962.
JD076189 - Sequence 57213 from Patent EP1572962.
JD496647 - Sequence 477671 from Patent EP1572962.
JD346887 - Sequence 327911 from Patent EP1572962.
JD385255 - Sequence 366279 from Patent EP1572962.
JD518832 - Sequence 499856 from Patent EP1572962.
JD219557 - Sequence 200581 from Patent EP1572962.
JD544803 - Sequence 525827 from Patent EP1572962.
JD165600 - Sequence 146624 from Patent EP1572962.
JD429369 - Sequence 410393 from Patent EP1572962.
JD536975 - Sequence 517999 from Patent EP1572962.
JD039127 - Sequence 20151 from Patent EP1572962.
JD492433 - Sequence 473457 from Patent EP1572962.
JD234812 - Sequence 215836 from Patent EP1572962.
JD345375 - Sequence 326399 from Patent EP1572962.
JD177781 - Sequence 158805 from Patent EP1572962.
DQ582251 - Homo sapiens piRNA piR-32363, complete sequence.
DQ596216 - Homo sapiens piRNA piR-34282, complete sequence.
JD334279 - Sequence 315303 from Patent EP1572962.
JD103333 - Sequence 84357 from Patent EP1572962.
JD044219 - Sequence 25243 from Patent EP1572962.
JD467148 - Sequence 448172 from Patent EP1572962.
JD093597 - Sequence 74621 from Patent EP1572962.
JD113159 - Sequence 94183 from Patent EP1572962.
JD188217 - Sequence 169241 from Patent EP1572962.
JD338001 - Sequence 319025 from Patent EP1572962.
JD477830 - Sequence 458854 from Patent EP1572962.
JD426240 - Sequence 407264 from Patent EP1572962.
JD511708 - Sequence 492732 from Patent EP1572962.
JD557197 - Sequence 538221 from Patent EP1572962.
JD385353 - Sequence 366377 from Patent EP1572962.
JD561490 - Sequence 542514 from Patent EP1572962.
JD515094 - Sequence 496118 from Patent EP1572962.
JD106745 - Sequence 87769 from Patent EP1572962.
JD470163 - Sequence 451187 from Patent EP1572962.
JD170896 - Sequence 151920 from Patent EP1572962.
JD235813 - Sequence 216837 from Patent EP1572962.
JD098577 - Sequence 79601 from Patent EP1572962.
JD055854 - Sequence 36878 from Patent EP1572962.
JD445812 - Sequence 426836 from Patent EP1572962.
JD220153 - Sequence 201177 from Patent EP1572962.
JD343026 - Sequence 324050 from Patent EP1572962.
JD527168 - Sequence 508192 from Patent EP1572962.
JD044238 - Sequence 25262 from Patent EP1572962.
JD338219 - Sequence 319243 from Patent EP1572962.
JD306718 - Sequence 287742 from Patent EP1572962.
JD037437 - Sequence 18461 from Patent EP1572962.
JD044150 - Sequence 25174 from Patent EP1572962.
JD544563 - Sequence 525587 from Patent EP1572962.
JD498843 - Sequence 479867 from Patent EP1572962.
JD479495 - Sequence 460519 from Patent EP1572962.
JD291660 - Sequence 272684 from Patent EP1572962.
JD101782 - Sequence 82806 from Patent EP1572962.
JD339391 - Sequence 320415 from Patent EP1572962.
JD472204 - Sequence 453228 from Patent EP1572962.
JD101132 - Sequence 82156 from Patent EP1572962.
JD113511 - Sequence 94535 from Patent EP1572962.
JD053530 - Sequence 34554 from Patent EP1572962.
JD137525 - Sequence 118549 from Patent EP1572962.
JD036586 - Sequence 17610 from Patent EP1572962.
JD276025 - Sequence 257049 from Patent EP1572962.
JD193715 - Sequence 174739 from Patent EP1572962.
JD416098 - Sequence 397122 from Patent EP1572962.
JD352737 - Sequence 333761 from Patent EP1572962.
JD071821 - Sequence 52845 from Patent EP1572962.
JD186301 - Sequence 167325 from Patent EP1572962.
JD189469 - Sequence 170493 from Patent EP1572962.
JD209170 - Sequence 190194 from Patent EP1572962.
JD362226 - Sequence 343250 from Patent EP1572962.
DQ570236 - Homo sapiens piRNA piR-30348, complete sequence.
DQ581698 - Homo sapiens piRNA piR-49810, complete sequence.
DQ590897 - Homo sapiens piRNA piR-58009, complete sequence.
DQ591453 - Homo sapiens piRNA piR-58565, complete sequence.
DQ587377 - Homo sapiens piRNA piR-54489, complete sequence.
DQ586803 - Homo sapiens piRNA piR-53915, complete sequence.
DQ595626 - Homo sapiens piRNA piR-61738, complete sequence.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9UQC2 (Reactome details) participates in the following event(s):

R-HSA-205234 Indirect recruitment of GAB2 to p-KIT
R-HSA-2730848 Recruitment of GAB2 to PM and FCERI by binding to GRB2
R-HSA-1839095 p-BCR-pFGFR1 binds GRB2:GAB2
R-HSA-2730860 Phosphorylation of GAB2 by SYK/FYN
R-HSA-1562641 Indirect recruitment of PI3K to KIT via p(Y)-GAB2
R-HSA-2730842 PI3K associates with phosphorylated GAB2
R-HSA-1839110 p-BCR-p-FGFR1 phosphorylates GAB2
R-HSA-1839114 BCR-FGFR1:GRB2:p-GAB2 binds PIK3R1
R-HSA-8855508 p-5Y-GAB in RET-GRB2-GAB complexes binds PTPN11
R-HSA-508247 Gab2 binds the p85 subunit of Class 1A PI3 kinases
R-HSA-1839102 BCR-FGFR1 fusion:GRB2:p-GAB2:PIK3R1 binds PIK3CA
R-HSA-1433514 Synthesis of PIP3 from PIP2 by PI3K
R-HSA-2730870 Phosphorylation of PIP2 to PIP3 by PI3K
R-HSA-1839107 BCR-FGFR1-associated PI3K phosphorylates PIP2 to PIP3.
R-HSA-1433557 Signaling by SCF-KIT
R-HSA-2730905 Role of LAT2/NTAL/LAB on calcium mobilization
R-HSA-8983432 Interleukin-15 signaling
R-HSA-912526 Interleukin receptor SHC signaling
R-HSA-1839117 Signaling by cytosolic FGFR1 fusion mutants
R-HSA-8853659 RET signaling
R-HSA-9006934 Signaling by Receptor Tyrosine Kinases
R-HSA-2454202 Fc epsilon receptor (FCERI) signaling
R-HSA-451927 Interleukin-2 family signaling
R-HSA-512988 Interleukin-3, 5 and GM-CSF signaling
R-HSA-1839124 FGFR1 mutant receptor activation
R-HSA-422475 Axon guidance
R-HSA-162582 Signal Transduction
R-HSA-168249 Innate Immune System
R-HSA-449147 Signaling by Interleukins
R-HSA-5655302 Signaling by FGFR1 in disease
R-HSA-1266738 Developmental Biology
R-HSA-168256 Immune System
R-HSA-1280215 Cytokine Signaling in Immune system
R-HSA-1226099 Signaling by FGFR in disease
R-HSA-5663202 Diseases of signal transduction
R-HSA-1643685 Disease

-  Other Names for This Gene
  Alternate Gene Symbols: A2RRM2, A6NEW9, A7MD36, ENST00000361507.1, ENST00000361507.2, ENST00000361507.3, ENST00000361507.4, GAB2_HUMAN, KIAA0571, NM_080491, O60317, Q9UQC2, uc318ccy.1, uc318ccy.2
UCSC ID: ENST00000361507.5_7
RefSeq Accession: NM_080491.3
Protein: Q9UQC2 (aka GAB2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.