Atlas of Genetics and Cytogenetics in Oncology and Haematology

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AP1S2 (adaptor related protein complex 1 subunit sigma 2)

Identity

Alias (NCBI)DC22
MRX59
MRXS21
MRXS5
MRXSF
PGS
SIGMA1B
HGNC (Hugo) AP1S2
HGNC Alias symbSIGMA1B
HGNC Previous nameMRX59
 MRXS5
 PGS
HGNC Previous namemental retardation, X-linked 59
 mental retardation, X-linked, syndromic 5
 Pettigrew X-linked mental retardation syndrome
 adaptor-related protein complex 1, sigma 2 subunit
 adaptor-related protein complex 1 sigma 2 subunit
LocusID (NCBI) 8905
Atlas_Id 60400
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 15825806 and ends at 15855014 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)
AD_1 () / AP1S2 (Xp22.2)AP1S2 (Xp22.2) / AP1S2 (Xp22.2)AP1S2 (Xp22.2) / LPCAT1 (5p15.33)
AP1S2 (Xp22.2) / PPP4R3B (2p16.1)

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)AP1S2   560
Cards
Entrez_Gene (NCBI)AP1S2    adaptor related protein complex 1 subunit sigma 2
AliasesDC22; MRX59; MRXS21; MRXS5; 
MRXSF; PGS; SIGMA1B
GeneCards (Weizmann)AP1S2
Ensembl hg19 (Hinxton)ENSG00000182287 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000182287 [Gene_View]  ENSG00000182287 [Sequence]  chrX:15825806-15855014 [Contig_View]  AP1S2 [Vega]
ICGC DataPortalENSG00000182287
TCGA cBioPortalAP1S2
AceView (NCBI)AP1S2
Genatlas (Paris)AP1S2
SOURCE (Princeton)AP1S2
Genetics Home Reference (NIH)AP1S2
Genomic and cartography
GoldenPath hg38 (UCSC)AP1S2  -     chrX:15825806-15855014 -  Xp22.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP1S2  -     Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPathAP1S2 - Xp22.2 [CytoView hg19]  AP1S2 - Xp22.2 [CytoView hg38]
ImmunoBaseENSG00000182287
genome Data Viewer NCBIAP1S2 [Mapview hg19]  
OMIM300629   304340   
Gene and transcription
Genbank (Entrez)AB015320 AF087876 AF091077 AF251295 AK125525
RefSeq transcript (Entrez)NM_001272071 NM_001368994 NM_001369007 NM_001369008 NM_003916
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP1S2
Alternative Splicing GalleryENSG00000182287
Gene ExpressionAP1S2 [ NCBI-GEO ]   AP1S2 [ EBI - ARRAY_EXPRESS ]   AP1S2 [ SEEK ]   AP1S2 [ MEM ]
Gene Expression Viewer (FireBrowse)AP1S2 [ Firebrowse - Broad ]
GenevisibleExpression of AP1S2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8905
GTEX Portal (Tissue expression)AP1S2
Human Protein AtlasENSG00000182287-AP1S2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP56377   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP56377  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP56377
Splice isoforms : SwissVarP56377
PhosPhoSitePlusP56377
Domaine pattern : Prosite (Expaxy)CLAT_ADAPTOR_S (PS00989)   
Domains : Interpro (EBI)AP_complex_ssu    AP_mu_sigma_su    Clathrin_sm-chain_CS    Longin-like_dom_sf   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP1S2
Blocks (Seattle)AP1S2
SuperfamilyP56377
Human Protein Atlas [tissue]ENSG00000182287-AP1S2 [tissue]
Peptide AtlasP56377
HPRD04636
IPIIPI00922006   IPI00009244   IPI00646398   IPI00385342   
Protein Interaction databases
DIP (DOE-UCLA)P56377
IntAct (EBI)P56377
BioGRIDAP1S2
STRING (EMBL)AP1S2
ZODIACAP1S2
Ontologies - Pathways
QuickGOP56377
Ontology : AmiGOGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  cytosol  clathrin-coated pit  intracellular protein transport  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-type membrane coat adaptor complex  cytoplasmic vesicle membrane  trans-Golgi network membrane  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  
Ontology : EGO-EBIGolgi membrane  protein binding  lysosomal membrane  Golgi apparatus  cytosol  clathrin-coated pit  intracellular protein transport  vesicle-mediated transport  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-type membrane coat adaptor complex  cytoplasmic vesicle membrane  trans-Golgi network membrane  intracellular membrane-bounded organelle  intracellular membrane-bounded organelle  regulation of defense response to virus by virus  
NDEx NetworkAP1S2
Atlas of Cancer Signalling NetworkAP1S2
Wikipedia pathwaysAP1S2
Orthology - Evolution
OrthoDB8905
GeneTree (enSembl)ENSG00000182287
Phylogenetic Trees/Animal Genes : TreeFamAP1S2
HOGENOMP56377
Homologs : HomoloGeneAP1S2
Homology/Alignments : Family Browser (UCSC)AP1S2
Gene fusions - Rearrangements
Fusion : QuiverAP1S2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP1S2 [hg38]
dbVarAP1S2
ClinVarAP1S2
MonarchAP1S2
1000_GenomesAP1S2 
Exome Variant ServerAP1S2
GNOMAD BrowserENSG00000182287
Varsome BrowserAP1S2
Genomic Variants (DGV)AP1S2 [DGVbeta]
DECIPHERAP1S2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP1S2 
Mutations
ICGC Data PortalAP1S2 
TCGA Data PortalAP1S2 
Broad Tumor PortalAP1S2
OASIS PortalAP1S2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP1S2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAP1S2
Mutations and Diseases : HGMDAP1S2
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 AP1S2
DgiDB (Drug Gene Interaction Database)AP1S2
DoCM (Curated mutations)AP1S2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP1S2 (select a term)
intoGenAP1S2
Cancer3DAP1S2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300629    304340   
Orphanet1720    11705   
DisGeNETAP1S2
MedgenAP1S2
Genetic Testing Registry AP1S2
NextProtP56377 [Medical]
GENETestsAP1S2
Target ValidationAP1S2
Huge Navigator AP1S2 [HugePedia]
ClinGenAP1S2
Clinical trials, drugs, therapy
MyCancerGenomeAP1S2
Protein Interactions : CTD
Pharm GKB GenePA24851
Clinical trialAP1S2
Miscellaneous
canSAR (ICR)AP1S2 (select the gene name)
HarmonizomeAP1S2
DataMed IndexAP1S2
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP1S2
EVEXAP1S2
GoPubMedAP1S2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 16:45:58 CET 2020
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