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GIT2 (GIT ArfGAP 2)

Identity

Alias_namesG protein-coupled receptor kinase interactor 2
G protein-coupled receptor kinase interacting ArfGAP 2
Alias_symbol (synonym)KIAA0148
PKL
Other aliasCAT-2
CAT2
HGNC (Hugo) GIT2
LocusID (NCBI) 9815
Atlas_Id 45589
Location 12q24.11  [Link to chromosome band 12q24]
Location_base_pair Starts at 109929792 and ends at 109996389 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ATXN2 (12q24.12) / GIT2 (12q24.11)GIT2 (12q24.11) / PDGFRB (5q32)GIT2 (12q24.11) / RPS4X (Xq13.1)
TBXA2R (19p13.3) / GIT2 (12q24.11)ATXN2 12q24.12 / GIT2 12q24.11

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(5;12)(q33;q24) GIT2/PDGFRB


External links

Nomenclature
HGNC (Hugo)GIT2   4273
Cards
Entrez_Gene (NCBI)GIT2  9815  GIT ArfGAP 2
AliasesCAT-2; CAT2; PKL
GeneCards (Weizmann)GIT2
Ensembl hg19 (Hinxton)ENSG00000139436 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139436 [Gene_View]  chr12:109929792-109996389 [Contig_View]  GIT2 [Vega]
ICGC DataPortalENSG00000139436
TCGA cBioPortalGIT2
AceView (NCBI)GIT2
Genatlas (Paris)GIT2
WikiGenes9815
SOURCE (Princeton)GIT2
Genetics Home Reference (NIH)GIT2
Genomic and cartography
GoldenPath hg38 (UCSC)GIT2  -     chr12:109929792-109996389 -  12q24.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GIT2  -     12q24.11   [Description]    (hg19-Feb_2009)
EnsemblGIT2 - 12q24.11 [CytoView hg19]  GIT2 - 12q24.11 [CytoView hg38]
Mapping of homologs : NCBIGIT2 [Mapview hg19]  GIT2 [Mapview hg38]
OMIM608564   
Gene and transcription
Genbank (Entrez)AA813937 AB451294 AB451428 AF124491 AK057814
RefSeq transcript (Entrez)NM_001135213 NM_001135214 NM_001330153 NM_001330154 NM_014776 NM_057169 NM_057170 NM_139201
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)GIT2
Cluster EST : UnigeneHs.434996 [ NCBI ]
CGAP (NCI)Hs.434996
Alternative Splicing GalleryENSG00000139436
Gene ExpressionGIT2 [ NCBI-GEO ]   GIT2 [ EBI - ARRAY_EXPRESS ]   GIT2 [ SEEK ]   GIT2 [ MEM ]
Gene Expression Viewer (FireBrowse)GIT2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9815
GTEX Portal (Tissue expression)GIT2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14161   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14161  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14161
Splice isoforms : SwissVarQ14161
PhosPhoSitePlusQ14161
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    ARFGAP (PS50115)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    ArfGAP    GIT1/2_CC    GIT1_C    GIT_SHD   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    ArfGap (PF01412)    GIT1_C (PF12205)    GIT_CC (PF16559)    GIT_SHD (PF08518)   
Domain families : Pfam (NCBI)pfam12796    pfam01412    pfam12205    pfam16559    pfam08518   
Domain families : Smart (EMBL)ANK (SM00248)  ArfGap (SM00105)  GIT (SM00555)  
Conserved Domain (NCBI)GIT2
DMDM Disease mutations9815
Blocks (Seattle)GIT2
SuperfamilyQ14161
Human Protein AtlasENSG00000139436
Peptide AtlasQ14161
HPRD09779
IPIIPI00238218   IPI00376496   IPI00413822   IPI00186690   IPI00216991   IPI00216993   IPI00216994   IPI00413167   IPI00216996   IPI00216997   IPI01013497   IPI00216998   IPI01021747   IPI01020711   IPI01022595   IPI01022372   IPI01021301   IPI01022006   IPI01022163   IPI01021800   IPI01020765   
Protein Interaction databases
DIP (DOE-UCLA)Q14161
IntAct (EBI)Q14161
FunCoupENSG00000139436
BioGRIDGIT2
STRING (EMBL)GIT2
ZODIACGIT2
Ontologies - Pathways
QuickGOQ14161
Ontology : AmiGOGTPase activator activity  protein binding  nucleoplasm  focal adhesion  regulation of G-protein coupled receptor protein signaling pathway  protein complex binding  positive regulation of GTPase activity  metal ion binding  behavioral response to pain  
Ontology : EGO-EBIGTPase activator activity  protein binding  nucleoplasm  focal adhesion  regulation of G-protein coupled receptor protein signaling pathway  protein complex binding  positive regulation of GTPase activity  metal ion binding  behavioral response to pain  
Pathways : BIOCARTAAgrin in Postsynaptic Differentiation [Genes]   
Pathways : KEGGEndocytosis   
NDEx NetworkGIT2
Atlas of Cancer Signalling NetworkGIT2
Wikipedia pathwaysGIT2
Orthology - Evolution
OrthoDB9815
GeneTree (enSembl)ENSG00000139436
Phylogenetic Trees/Animal Genes : TreeFamGIT2
HOVERGENQ14161
HOGENOMQ14161
Homologs : HomoloGeneGIT2
Homology/Alignments : Family Browser (UCSC)GIT2
Gene fusions - Rearrangements
Fusion : MitelmanATXN2/GIT2 [12q24.12/12q24.11]  [t(12;12)(q24;q24)]  
Fusion : MitelmanGIT2/PDGFRB [12q24.11/5q32]  [t(5;12)(q32;q24)]  
Fusion: TCGAATXN2 12q24.12 GIT2 12q24.11 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGIT2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GIT2
dbVarGIT2
ClinVarGIT2
1000_GenomesGIT2 
Exome Variant ServerGIT2
ExAC (Exome Aggregation Consortium)GIT2 (select the gene name)
Genetic variants : HAPMAP9815
Genomic Variants (DGV)GIT2 [DGVbeta]
DECIPHERGIT2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGIT2 
Mutations
ICGC Data PortalGIT2 
TCGA Data PortalGIT2 
Broad Tumor PortalGIT2
OASIS PortalGIT2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGIT2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDGIT2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch GIT2
DgiDB (Drug Gene Interaction Database)GIT2
DoCM (Curated mutations)GIT2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GIT2 (select a term)
intoGenGIT2
Cancer3DGIT2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608564   
Orphanet
MedgenGIT2
Genetic Testing Registry GIT2
NextProtQ14161 [Medical]
TSGene9815
GENETestsGIT2
Huge Navigator GIT2 [HugePedia]
snp3D : Map Gene to Disease9815
BioCentury BCIQGIT2
ClinGenGIT2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9815
Chemical/Pharm GKB GenePA28684
Clinical trialGIT2
Miscellaneous
canSAR (ICR)GIT2 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGIT2
EVEXGIT2
GoPubMedGIT2
iHOPGIT2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri May 19 12:17:16 CEST 2017

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