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RABEP2 (rabaptin, RAB GTPase binding effector protein 2)

Identity

Alias_symbol (synonym)FRA
FLJ23282
Other alias
HGNC (Hugo) RABEP2
LocusID (NCBI) 79874
Atlas_Id 72459
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28904421 and ends at 28925211 bp from pter ( according to hg38-Dec_2013)

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)RABEP2   24817
Cards
Entrez_Gene (NCBI)RABEP2  79874  rabaptin, RAB GTPase binding effector protein 2
AliasesFRA
GeneCards (Weizmann)RABEP2
Ensembl hg19 (Hinxton)ENSG00000177548 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177548 [Gene_View]  chr16:28904421-28925211 [Contig_View]  RABEP2 [Vega]
ICGC DataPortalENSG00000177548
TCGA cBioPortalRABEP2
AceView (NCBI)RABEP2
Genatlas (Paris)RABEP2
WikiGenes79874
SOURCE (Princeton)RABEP2
Genetics Home Reference (NIH)RABEP2
Genomic and cartography
GoldenPath hg38 (UCSC)RABEP2  -     chr16:28904421-28925211 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RABEP2  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblRABEP2 - 16p11.2 [CytoView hg19]  RABEP2 - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIRABEP2 [Mapview hg19]  RABEP2 [Mapview hg38]
OMIM611869   
Gene and transcription
Genbank (Entrez)AK026935 AK092299 AK295229 BC027584 BC046118
RefSeq transcript (Entrez)NM_024816
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RABEP2
Cluster EST : UnigeneHs.555978 [ NCBI ]
CGAP (NCI)Hs.555978
Alternative Splicing GalleryENSG00000177548
Gene ExpressionRABEP2 [ NCBI-GEO ]   RABEP2 [ EBI - ARRAY_EXPRESS ]   RABEP2 [ SEEK ]   RABEP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RABEP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79874
GTEX Portal (Tissue expression)RABEP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H5N1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H5N1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H5N1
Splice isoforms : SwissVarQ9H5N1
PhosPhoSitePlusQ9H5N1
Domains : Interpro (EBI)Rabaptin    Rabaptin-5beta    Rabaptin_coiled-coil    Rabaptin_Rab5-bd_dom   
Domain families : Pfam (Sanger)Rab5-bind (PF09311)    Rabaptin (PF03528)   
Domain families : Pfam (NCBI)pfam09311    pfam03528   
Conserved Domain (NCBI)RABEP2
DMDM Disease mutations79874
Blocks (Seattle)RABEP2
SuperfamilyQ9H5N1
Human Protein AtlasENSG00000177548
Peptide AtlasQ9H5N1
HPRD17948
IPIIPI00412499   IPI00412500   IPI01012153   
Protein Interaction databases
DIP (DOE-UCLA)Q9H5N1
IntAct (EBI)Q9H5N1
FunCoupENSG00000177548
BioGRIDRABEP2
STRING (EMBL)RABEP2
ZODIACRABEP2
Ontologies - Pathways
QuickGOQ9H5N1
Ontology : AmiGOGTPase activator activity  early endosome  cytosol  endocytosis  growth factor activity  protein transport  intracellular membrane-bounded organelle  positive regulation of GTPase activity  
Ontology : EGO-EBIGTPase activator activity  early endosome  cytosol  endocytosis  growth factor activity  protein transport  intracellular membrane-bounded organelle  positive regulation of GTPase activity  
NDEx NetworkRABEP2
Atlas of Cancer Signalling NetworkRABEP2
Wikipedia pathwaysRABEP2
Orthology - Evolution
OrthoDB79874
GeneTree (enSembl)ENSG00000177548
Phylogenetic Trees/Animal Genes : TreeFamRABEP2
HOVERGENQ9H5N1
HOGENOMQ9H5N1
Homologs : HomoloGeneRABEP2
Homology/Alignments : Family Browser (UCSC)RABEP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRABEP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABEP2
dbVarRABEP2
ClinVarRABEP2
1000_GenomesRABEP2 
Exome Variant ServerRABEP2
ExAC (Exome Aggregation Consortium)RABEP2 (select the gene name)
Genetic variants : HAPMAP79874
Genomic Variants (DGV)RABEP2 [DGVbeta]
DECIPHERRABEP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRABEP2 
Mutations
ICGC Data PortalRABEP2 
TCGA Data PortalRABEP2 
Broad Tumor PortalRABEP2
OASIS PortalRABEP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRABEP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRABEP2
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
BioMutasearch RABEP2
DgiDB (Drug Gene Interaction Database)RABEP2
DoCM (Curated mutations)RABEP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RABEP2 (select a term)
intoGenRABEP2
Cancer3DRABEP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611869   
Orphanet
MedgenRABEP2
Genetic Testing Registry RABEP2
NextProtQ9H5N1 [Medical]
TSGene79874
GENETestsRABEP2
Target ValidationRABEP2
Huge Navigator RABEP2 [HugePedia]
snp3D : Map Gene to Disease79874
BioCentury BCIQRABEP2
ClinGenRABEP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79874
Chemical/Pharm GKB GenePA134952719
Clinical trialRABEP2
Miscellaneous
canSAR (ICR)RABEP2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRABEP2
EVEXRABEP2
GoPubMedRABEP2
iHOPRABEP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed May 31 15:38:06 CEST 2017

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