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RABEP2 (rabaptin, RAB GTPase binding effector protein 2)

Identity

Alias (NCBI)FRA
HGNC (Hugo) RABEP2
HGNC Alias symbFRA
FLJ23282
HGNC Alias nameRabaptin-5beta
LocusID (NCBI) 79874
Atlas_Id 58220
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 28904421 and ends at 28925238 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)

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    rabaptin, RAB GTPase binding effector protein 2
AliasesFRA
GeneCards (Weizmann)RABEP2
Ensembl hg19 (Hinxton)ENSG00000177548 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000177548 [Gene_View]  ENSG00000177548 [Sequence]  chr16:28904421-28925238 [Contig_View]  RABEP2 [Vega]
ICGC DataPortalENSG00000177548
TCGA cBioPortalRABEP2
AceView (NCBI)RABEP2
Genatlas (Paris)RABEP2
SOURCE (Princeton)RABEP2
Genetics Home Reference (NIH)RABEP2
Genomic and cartography
GoldenPath hg38 (UCSC)RABEP2  -     chr16:28904421-28925238 -  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RABEP2  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathRABEP2 - 16p11.2 [CytoView hg19]  RABEP2 - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000177548
Genome Data Viewer NCBIRABEP2 [Mapview hg19]  
OMIM611869   
Gene and transcription
Genbank (Entrez)AK026935 AK092299 AK295229 BC027584 BC046118
RefSeq transcript (Entrez)NM_024816
Consensus coding sequences : CCDS (NCBI)RABEP2
Gene ExpressionRABEP2 [ NCBI-GEO ]   RABEP2 [ EBI - ARRAY_EXPRESS ]   RABEP2 [ SEEK ]   RABEP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RABEP2 [ Firebrowse - Broad ]
GenevisibleExpression of RABEP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79874
GTEX Portal (Tissue expression)RABEP2
Human Protein AtlasENSG00000177548-RABEP2 [pathology]   [cell]   [tissue]
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
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
SuperfamilyQ9H5N1
AlphaFold pdb e-kbQ9H5N1   
Human Protein Atlas [tissue]ENSG00000177548-RABEP2 [tissue]
Protein Interaction databases
DIP (DOE-UCLA)Q9H5N1
IntAct (EBI)Q9H5N1
BioGRIDRABEP2
STRING (EMBL)RABEP2
ZODIACRABEP2
Ontologies - Pathways
QuickGOQ9H5N1
Ontology : AmiGOGTPase activator activity  protein binding  early endosome  centrosome  cytosol  endocytosis  signal transduction  growth factor activity  protein transport  cell projection organization  ciliary basal body  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  regulation of catalytic activity  regulation of cilium assembly  
Ontology : EGO-EBIGTPase activator activity  protein binding  early endosome  centrosome  cytosol  endocytosis  signal transduction  growth factor activity  protein transport  cell projection organization  ciliary basal body  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  regulation of catalytic activity  regulation of cilium assembly  
NDEx NetworkRABEP2
Atlas of Cancer Signalling NetworkRABEP2
Wikipedia pathwaysRABEP2
Orthology - Evolution
OrthoDB79874
GeneTree (enSembl)ENSG00000177548
Phylogenetic Trees/Animal Genes : TreeFamRABEP2
Homologs : HomoloGeneRABEP2
Homology/Alignments : Family Browser (UCSC)RABEP2
Gene fusions - Rearrangements
Fusion : QuiverRABEP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRABEP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RABEP2
dbVarRABEP2
ClinVarRABEP2
MonarchRABEP2
1000_GenomesRABEP2 
Exome Variant ServerRABEP2
GNOMAD BrowserENSG00000177548
Varsome BrowserRABEP2
ACMGRABEP2 variants
VarityQ9H5N1
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]  
Somatic Mutations in Cancer : COSMIC3DRABEP2
Mutations and Diseases : HGMDRABEP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaRABEP2
DgiDB (Drug Gene Interaction Database)RABEP2
DoCM (Curated mutations)RABEP2
CIViC (Clinical Interpretations of Variants in Cancer)RABEP2
Cancer3DRABEP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611869   
Orphanet
DisGeNETRABEP2
MedgenRABEP2
Genetic Testing Registry RABEP2
NextProtQ9H5N1 [Medical]
GENETestsRABEP2
Target ValidationRABEP2
Huge Navigator RABEP2 [HugePedia]
ClinGenRABEP2
Clinical trials, drugs, therapy
MyCancerGenomeRABEP2
Protein Interactions : CTDRABEP2
PharosQ9H5N1
Clinical trialRABEP2
Miscellaneous
canSAR (ICR)RABEP2
HarmonizomeRABEP2
DataMed IndexRABEP2
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXRABEP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:28:00 CEST 2021

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