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RAB3GAP2 (RAB3 GTPase activating non-catalytic protein subunit 2)

Identity

Alias_namesRAB3 GTPase activating protein subunit 2 (non-catalytic)
Alias_symbol (synonym)RAB3-GAP150
KIAA0839
DKFZP434D245
SPG69
Other aliasRAB3GAP150
WARBM2
p150
HGNC (Hugo) RAB3GAP2
LocusID (NCBI) 25782
Atlas_Id 72456
Location 1q41  [Link to chromosome band 1q41]
Location_base_pair Starts at 220148268 and ends at 220272501 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
LARS2 (3p21.31) / RAB3GAP2 (1q41)NOC4L (12q24.33) / RAB3GAP2 (1q41)RAB3GAP2 (1q41) / DLGAP4 (20q11.23)
RAB3GAP2 (1q41) / RAB3GAP2 (1q41)

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

 


External links

Nomenclature
HGNC (Hugo)RAB3GAP2   17168
Cards
Entrez_Gene (NCBI)RAB3GAP2  25782  RAB3 GTPase activating non-catalytic protein subunit 2
AliasesRAB3-GAP150; RAB3GAP150; SPG69; WARBM2; 
p150
GeneCards (Weizmann)RAB3GAP2
Ensembl hg19 (Hinxton)ENSG00000118873 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000118873 [Gene_View]  chr1:220148268-220272501 [Contig_View]  RAB3GAP2 [Vega]
ICGC DataPortalENSG00000118873
TCGA cBioPortalRAB3GAP2
AceView (NCBI)RAB3GAP2
Genatlas (Paris)RAB3GAP2
WikiGenes25782
SOURCE (Princeton)RAB3GAP2
Genetics Home Reference (NIH)RAB3GAP2
Genomic and cartography
GoldenPath hg38 (UCSC)RAB3GAP2  -     chr1:220148268-220272501 -  1q41   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RAB3GAP2  -     1q41   [Description]    (hg19-Feb_2009)
EnsemblRAB3GAP2 - 1q41 [CytoView hg19]  RAB3GAP2 - 1q41 [CytoView hg38]
Mapping of homologs : NCBIRAB3GAP2 [Mapview hg19]  RAB3GAP2 [Mapview hg38]
OMIM212720   609275   614225   
Gene and transcription
Genbank (Entrez)AB020646 AF004828 AF255648 AK021928 AK027485
RefSeq transcript (Entrez)NM_012414
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RAB3GAP2
Cluster EST : UnigeneHs.708165 [ NCBI ]
CGAP (NCI)Hs.708165
Alternative Splicing GalleryENSG00000118873
Gene ExpressionRAB3GAP2 [ NCBI-GEO ]   RAB3GAP2 [ EBI - ARRAY_EXPRESS ]   RAB3GAP2 [ SEEK ]   RAB3GAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RAB3GAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25782
GTEX Portal (Tissue expression)RAB3GAP2
Human Protein AtlasENSG00000118873-RAB3GAP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H2M9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H2M9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H2M9
Splice isoforms : SwissVarQ9H2M9
PhosPhoSitePlusQ9H2M9
Domains : Interpro (EBI)Rab3-gap_reg    RAB3GAP2_C    RAB3GAP_N   
Domain families : Pfam (Sanger)RAB3GAP2_C (PF14656)    RAB3GAP2_N (PF14655)   
Domain families : Pfam (NCBI)pfam14656    pfam14655   
Conserved Domain (NCBI)RAB3GAP2
DMDM Disease mutations25782
Blocks (Seattle)RAB3GAP2
SuperfamilyQ9H2M9
Human Protein Atlas [tissue]ENSG00000118873-RAB3GAP2 [tissue]
Peptide AtlasQ9H2M9
HPRD11471
IPIIPI00554590   IPI00477068   IPI00945778   IPI00945592   
Protein Interaction databases
DIP (DOE-UCLA)Q9H2M9
IntAct (EBI)Q9H2M9
FunCoupENSG00000118873
BioGRIDRAB3GAP2
STRING (EMBL)RAB3GAP2
ZODIACRAB3GAP2
Ontologies - Pathways
QuickGOQ9H2M9
Ontology : AmiGOGTPase activator activity  endoplasmic reticulum membrane  cytosol  cytosol  plasma membrane  intracellular protein transport  enzyme activator activity  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  enzyme regulator activity  regulation of GTPase activity  protein complex  positive regulation of GTPase activity  protein heterodimerization activity  membrane organization  establishment of protein localization to endoplasmic reticulum membrane  positive regulation of protein lipidation  positive regulation of endoplasmic reticulum tubular network organization  positive regulation of autophagosome assembly  
Ontology : EGO-EBIGTPase activator activity  endoplasmic reticulum membrane  cytosol  cytosol  plasma membrane  intracellular protein transport  enzyme activator activity  Rab guanyl-nucleotide exchange factor activity  Rab GTPase binding  enzyme regulator activity  regulation of GTPase activity  protein complex  positive regulation of GTPase activity  protein heterodimerization activity  membrane organization  establishment of protein localization to endoplasmic reticulum membrane  positive regulation of protein lipidation  positive regulation of endoplasmic reticulum tubular network organization  positive regulation of autophagosome assembly  
NDEx NetworkRAB3GAP2
Atlas of Cancer Signalling NetworkRAB3GAP2
Wikipedia pathwaysRAB3GAP2
Orthology - Evolution
OrthoDB25782
GeneTree (enSembl)ENSG00000118873
Phylogenetic Trees/Animal Genes : TreeFamRAB3GAP2
HOVERGENQ9H2M9
HOGENOMQ9H2M9
Homologs : HomoloGeneRAB3GAP2
Homology/Alignments : Family Browser (UCSC)RAB3GAP2
Gene fusions - Rearrangements
Tumor Fusion PortalRAB3GAP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRAB3GAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RAB3GAP2
dbVarRAB3GAP2
ClinVarRAB3GAP2
1000_GenomesRAB3GAP2 
Exome Variant ServerRAB3GAP2
ExAC (Exome Aggregation Consortium)ENSG00000118873
GNOMAD BrowserENSG00000118873
Genetic variants : HAPMAP25782
Genomic Variants (DGV)RAB3GAP2 [DGVbeta]
DECIPHERRAB3GAP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRAB3GAP2 
Mutations
ICGC Data PortalRAB3GAP2 
TCGA Data PortalRAB3GAP2 
Broad Tumor PortalRAB3GAP2
OASIS PortalRAB3GAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRAB3GAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRAB3GAP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)MRC Human Genetics Unit LOVD at MRC IGMM
BioMutasearch RAB3GAP2
DgiDB (Drug Gene Interaction Database)RAB3GAP2
DoCM (Curated mutations)RAB3GAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RAB3GAP2 (select a term)
intoGenRAB3GAP2
Cancer3DRAB3GAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM212720    609275    614225   
Orphanet1593    2322    22837   
DisGeNETRAB3GAP2
MedgenRAB3GAP2
Genetic Testing Registry RAB3GAP2
NextProtQ9H2M9 [Medical]
TSGene25782
GENETestsRAB3GAP2
Target ValidationRAB3GAP2
Huge Navigator RAB3GAP2 [HugePedia]
snp3D : Map Gene to Disease25782
BioCentury BCIQRAB3GAP2
ClinGenRAB3GAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25782
Chemical/Pharm GKB GenePA142671105
Clinical trialRAB3GAP2
Miscellaneous
canSAR (ICR)RAB3GAP2 (select the gene name)
Probes
Litterature
PubMed33 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRAB3GAP2
EVEXRAB3GAP2
GoPubMedRAB3GAP2
iHOPRAB3GAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 13:02:30 CET 2017

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