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ACAP2 (ArfGAP with coiled-coil, ankyrin repeat and PH domains 2)

Identity

Alias_namesCENTB2
centaurin
Alias_symbol (synonym)KIAA0041
CNT-B2
Other alias
HGNC (Hugo) ACAP2
LocusID (NCBI) 23527
Atlas_Id 55721
Location 3q29  [Link to chromosome band 3q29]
Location_base_pair Starts at 194995465 and ends at 195163817 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ACAP2 (3q29) / APOD (3q29)ACAP2 (3q29) / IQCG (3q29)ACAP2 (3q29) / QKI (6q26)
AP2B1 (17q12) / ACAP2 (3q29)CUX1 (7q22.1) / ACAP2 (3q29)IST1 (16q22.2) / ACAP2 (3q29)
PPP2R5C (14q32.31) / ACAP2 (3q29)

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)ACAP2   16469
Cards
Entrez_Gene (NCBI)ACAP2  23527  ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
AliasesCENTB2; CNT-B2
GeneCards (Weizmann)ACAP2
Ensembl hg19 (Hinxton)ENSG00000114331 [Gene_View]  chr3:194995465-195163817 [Contig_View]  ACAP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000114331 [Gene_View]  chr3:194995465-195163817 [Contig_View]  ACAP2 [Vega]
ICGC DataPortalENSG00000114331
TCGA cBioPortalACAP2
AceView (NCBI)ACAP2
Genatlas (Paris)ACAP2
WikiGenes23527
SOURCE (Princeton)ACAP2
Genetics Home Reference (NIH)ACAP2
Genomic and cartography
GoldenPath hg19 (UCSC)ACAP2  -     chr3:194995465-195163817 -  3q29   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ACAP2  -     3q29   [Description]    (hg38-Dec_2013)
EnsemblACAP2 - 3q29 [CytoView hg19]  ACAP2 - 3q29 [CytoView hg38]
Mapping of homologs : NCBIACAP2 [Mapview hg19]  ACAP2 [Mapview hg38]
OMIM607766   
Gene and transcription
Genbank (Entrez)AJ238248 AK222635 AK290369 BC014843 BC017120
RefSeq transcript (Entrez)NM_012287
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_005612 NW_004929312
Consensus coding sequences : CCDS (NCBI)ACAP2
Cluster EST : UnigeneHs.593373 [ NCBI ]
CGAP (NCI)Hs.593373
Alternative Splicing GalleryENSG00000114331
Gene ExpressionACAP2 [ NCBI-GEO ]   ACAP2 [ EBI - ARRAY_EXPRESS ]   ACAP2 [ SEEK ]   ACAP2 [ MEM ]
Gene Expression Viewer (FireBrowse)ACAP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23527
GTEX Portal (Tissue expression)ACAP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15057   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15057  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15057
Splice isoforms : SwissVarQ15057
PhosPhoSitePlusQ15057
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    ARFGAP (PS50115)    PH_DOMAIN (PS50003)   
Domains : Interpro (EBI)AH/BAR-dom    Ankyrin_rpt    Ankyrin_rpt-contain_dom    ArfGAP    PH_dom-like    PH_domain   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    ArfGap (PF01412)    PH (PF00169)   
Domain families : Pfam (NCBI)pfam12796    pfam01412    pfam00169   
Domain families : Smart (EMBL)ANK (SM00248)  ArfGap (SM00105)  PH (SM00233)  
Conserved Domain (NCBI)ACAP2
DMDM Disease mutations23527
Blocks (Seattle)ACAP2
SuperfamilyQ15057
Human Protein AtlasENSG00000114331
Peptide AtlasQ15057
HPRD09681
IPIIPI00014264   IPI00926420   IPI00926639   IPI00926835   IPI00927062   IPI00927454   
Protein Interaction databases
DIP (DOE-UCLA)Q15057
IntAct (EBI)Q15057
FunCoupENSG00000114331
BioGRIDACAP2
STRING (EMBL)ACAP2
ZODIACACAP2
Ontologies - Pathways
QuickGOQ15057
Ontology : AmiGOGTPase activator activity  endosome membrane  membrane  Rab GTPase binding  protein localization to endosome  positive regulation of GTPase activity  metal ion binding  cellular response to nerve growth factor stimulus  
Ontology : EGO-EBIGTPase activator activity  endosome membrane  membrane  Rab GTPase binding  protein localization to endosome  positive regulation of GTPase activity  metal ion binding  cellular response to nerve growth factor stimulus  
Pathways : KEGGEndocytosis   
NDEx NetworkACAP2
Atlas of Cancer Signalling NetworkACAP2
Wikipedia pathwaysACAP2
Orthology - Evolution
OrthoDB23527
GeneTree (enSembl)ENSG00000114331
Phylogenetic Trees/Animal Genes : TreeFamACAP2
HOVERGENQ15057
HOGENOMQ15057
Homologs : HomoloGeneACAP2
Homology/Alignments : Family Browser (UCSC)ACAP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACAP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACAP2
dbVarACAP2
ClinVarACAP2
1000_GenomesACAP2 
Exome Variant ServerACAP2
ExAC (Exome Aggregation Consortium)ACAP2 (select the gene name)
Genetic variants : HAPMAP23527
Genomic Variants (DGV)ACAP2 [DGVbeta]
DECIPHER (Syndromes)3:194995465-195163817  ENSG00000114331
CONAN: Copy Number AnalysisACAP2 
Mutations
ICGC Data PortalACAP2 
TCGA Data PortalACAP2 
Broad Tumor PortalACAP2
OASIS PortalACAP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACAP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACAP2
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 ACAP2
DgiDB (Drug Gene Interaction Database)ACAP2
DoCM (Curated mutations)ACAP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACAP2 (select a term)
intoGenACAP2
Cancer3DACAP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607766   
Orphanet
MedgenACAP2
Genetic Testing Registry ACAP2
NextProtQ15057 [Medical]
TSGene23527
GENETestsACAP2
Huge Navigator ACAP2 [HugePedia]
snp3D : Map Gene to Disease23527
BioCentury BCIQACAP2
ClinGenACAP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23527
Chemical/Pharm GKB GenePA26407
Clinical trialACAP2
Miscellaneous
canSAR (ICR)ACAP2 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACAP2
EVEXACAP2
GoPubMedACAP2
iHOPACAP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:51:18 CEST 2017

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