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AP2S1 (adaptor related protein complex 2 sigma 1 subunit)

Identity

Alias_namesCLAPS2
HHC3
hypocalciuric hypercalcemia 3 (Oklahoma type)
adaptor-related protein complex 2, sigma 1 subunit
Alias_symbol (synonym)FBHOk
FBH3
Other aliasAP17
HGNC (Hugo) AP2S1
LocusID (NCBI) 1175
Atlas_Id 60401
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 46838158 and ends at 46850290 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)
AP2S1 (19q13.32) / EEF2 (19p13.3)SERPINE1 (7q22.1) / AP2S1 (19q13.32)STRN4 (19q13.32) / AP2S1 (19q13.32)

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)AP2S1   565
Cards
Entrez_Gene (NCBI)AP2S1  1175  adaptor related protein complex 2 sigma 1 subunit
AliasesAP17; CLAPS2; FBH3; FBHOk; 
HHC3
GeneCards (Weizmann)AP2S1
Ensembl hg19 (Hinxton)ENSG00000042753 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000042753 [Gene_View]  chr19:46838158-46850290 [Contig_View]  AP2S1 [Vega]
ICGC DataPortalENSG00000042753
TCGA cBioPortalAP2S1
AceView (NCBI)AP2S1
Genatlas (Paris)AP2S1
WikiGenes1175
SOURCE (Princeton)AP2S1
Genetics Home Reference (NIH)AP2S1
Genomic and cartography
GoldenPath hg38 (UCSC)AP2S1  -     chr19:46838158-46850290 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2S1  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblAP2S1 - 19q13.32 [CytoView hg19]  AP2S1 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIAP2S1 [Mapview hg19]  AP2S1 [Mapview hg38]
OMIM600740   602242   
Gene and transcription
Genbank (Entrez)AI139089 AJ010148 AJ010149 AJ713543 AK312003
RefSeq transcript (Entrez)NM_001301076 NM_001301078 NM_001301081 NM_004069 NM_021575
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP2S1
Cluster EST : UnigeneHs.119591 [ NCBI ]
CGAP (NCI)Hs.119591
Alternative Splicing GalleryENSG00000042753
Gene ExpressionAP2S1 [ NCBI-GEO ]   AP2S1 [ EBI - ARRAY_EXPRESS ]   AP2S1 [ SEEK ]   AP2S1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2S1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1175
GTEX Portal (Tissue expression)AP2S1
Human Protein AtlasENSG00000042753-AP2S1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53680   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53680  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53680
Splice isoforms : SwissVarP53680
PhosPhoSitePlusP53680
Domaine pattern : Prosite (Expaxy)CLAT_ADAPTOR_S (PS00989)   
Domains : Interpro (EBI)AP_complex_ssu    AP_mu_sigma_su    APS2    Clathrin_sm-chain_CS    Longin-like_dom   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP2S1
DMDM Disease mutations1175
Blocks (Seattle)AP2S1
SuperfamilyP53680
Human Protein Atlas [tissue]ENSG00000042753-AP2S1 [tissue]
Peptide AtlasP53680
HPRD03762
IPIIPI00219840   IPI00183781   
Protein Interaction databases
DIP (DOE-UCLA)P53680
IntAct (EBI)P53680
FunCoupENSG00000042753
BioGRIDAP2S1
STRING (EMBL)AP2S1
ZODIACAP2S1
Ontologies - Pathways
QuickGOP53680
Ontology : AmiGOtransporter activity  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  protein transporter activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  regulation of endocytosis  AP-2 adaptor complex  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  clathrin adaptor activity  endolysosome membrane  ephrin receptor signaling pathway  clathrin coat assembly  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  
Ontology : EGO-EBItransporter activity  protein binding  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  protein transporter activity  antigen processing and presentation of exogenous peptide antigen via MHC class II  regulation of endocytosis  AP-2 adaptor complex  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  clathrin adaptor activity  endolysosome membrane  ephrin receptor signaling pathway  clathrin coat assembly  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  membrane organization  clathrin-dependent endocytosis  
Pathways : KEGGEndocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease   
NDEx NetworkAP2S1
Atlas of Cancer Signalling NetworkAP2S1
Wikipedia pathwaysAP2S1
Orthology - Evolution
OrthoDB1175
GeneTree (enSembl)ENSG00000042753
Phylogenetic Trees/Animal Genes : TreeFamAP2S1
HOVERGENP53680
HOGENOMP53680
Homologs : HomoloGeneAP2S1
Homology/Alignments : Family Browser (UCSC)AP2S1
Gene fusions - Rearrangements
Fusion: Tumor Portal AP2S1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2S1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2S1
dbVarAP2S1
ClinVarAP2S1
1000_GenomesAP2S1 
Exome Variant ServerAP2S1
ExAC (Exome Aggregation Consortium)ENSG00000042753
GNOMAD BrowserENSG00000042753
Genetic variants : HAPMAP1175
Genomic Variants (DGV)AP2S1 [DGVbeta]
DECIPHERAP2S1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP2S1 
Mutations
ICGC Data PortalAP2S1 
TCGA Data PortalAP2S1 
Broad Tumor PortalAP2S1
OASIS PortalAP2S1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP2S1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP2S1
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 AP2S1
DgiDB (Drug Gene Interaction Database)AP2S1
DoCM (Curated mutations)AP2S1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP2S1 (select a term)
intoGenAP2S1
Cancer3DAP2S1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600740    602242   
Orphanet14761   
MedgenAP2S1
Genetic Testing Registry AP2S1
NextProtP53680 [Medical]
TSGene1175
GENETestsAP2S1
Target ValidationAP2S1
Huge Navigator AP2S1 [HugePedia]
snp3D : Map Gene to Disease1175
BioCentury BCIQAP2S1
ClinGenAP2S1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1175
Chemical/Pharm GKB GenePA24856
Clinical trialAP2S1
Miscellaneous
canSAR (ICR)AP2S1 (select the gene name)
Probes
Litterature
PubMed49 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP2S1
EVEXAP2S1
GoPubMedAP2S1
iHOPAP2S1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:37:58 CET 2017

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