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AP1S2 (adaptor-related protein complex 1, sigma 2 subunit)

Identity

Alias_namesMRX59
MRXS5
PGS
mental 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
Alias_symbol (synonym)SIGMA1B
Other aliasDC22
MRXS21
MRXSF
HGNC (Hugo) AP1S2
LocusID (NCBI) 8905
Atlas_Id 60400
Location Xp22.2  [Link to chromosome band Xp22]
Location_base_pair Starts at 15843929 and ends at 15873137 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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  8905  adaptor-related protein complex 1, sigma 2 subunit
AliasesDC22; MRX59; MRXS21; MRXS5; 
MRXSF; PGS; SIGMA1B
GeneCards (Weizmann)AP1S2
Ensembl hg19 (Hinxton)ENSG00000182287 [Gene_View]  chrX:15843929-15873137 [Contig_View]  AP1S2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000182287 [Gene_View]  chrX:15843929-15873137 [Contig_View]  AP1S2 [Vega]
ICGC DataPortalENSG00000182287
TCGA cBioPortalAP1S2
AceView (NCBI)AP1S2
Genatlas (Paris)AP1S2
WikiGenes8905
SOURCE (Princeton)AP1S2
Genetics Home Reference (NIH)AP1S2
Genomic and cartography
GoldenPath hg19 (UCSC)AP1S2  -     chrX:15843929-15873137 -  Xp22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)AP1S2  -     Xp22.2   [Description]    (hg38-Dec_2013)
EnsemblAP1S2 - Xp22.2 [CytoView hg19]  AP1S2 - Xp22.2 [CytoView hg38]
Mapping of homologs : NCBIAP1S2 [Mapview hg19]  AP1S2 [Mapview hg38]
OMIM300629   
Gene and transcription
Genbank (Entrez)AB015320 AF087876 AF091077 AF251295 AK125525
RefSeq transcript (Entrez)NM_001272071 NM_003916
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009274 NT_167197 NW_004929438
Consensus coding sequences : CCDS (NCBI)AP1S2
Cluster EST : UnigeneHs.121592 [ NCBI ]
CGAP (NCI)Hs.121592
Alternative Splicing GalleryENSG00000182287
Gene ExpressionAP1S2 [ NCBI-GEO ]   AP1S2 [ EBI - ARRAY_EXPRESS ]   AP1S2 [ SEEK ]   AP1S2 [ MEM ]
Gene Expression Viewer (FireBrowse)AP1S2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8905
GTEX Portal (Tissue expression)AP1S2
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   
Domain families : Pfam (Sanger)Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam01217   
Conserved Domain (NCBI)AP1S2
DMDM Disease mutations8905
Blocks (Seattle)AP1S2
SuperfamilyP56377
Human Protein AtlasENSG00000182287
Peptide AtlasP56377
HPRD04636
IPIIPI00922006   IPI00009244   IPI00646398   IPI00385342   
Protein Interaction databases
DIP (DOE-UCLA)P56377
IntAct (EBI)P56377
FunCoupENSG00000182287
BioGRIDAP1S2
STRING (EMBL)AP1S2
ZODIACAP1S2
Ontologies - Pathways
QuickGOP56377
Ontology : AmiGOGolgi membrane  protein binding  lysosomal membrane  cytosol  coated pit  intracellular protein transport  post-Golgi vesicle-mediated transport  protein transporter activity  viral process  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-type membrane coat adaptor complex  cytoplasmic vesicle membrane  clathrin-coated endocytic vesicle membrane  trans-Golgi network membrane  regulation of defense response to virus by virus  membrane organization  
Ontology : EGO-EBIGolgi membrane  protein binding  lysosomal membrane  cytosol  coated pit  intracellular protein transport  post-Golgi vesicle-mediated transport  protein transporter activity  viral process  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-type membrane coat adaptor complex  cytoplasmic vesicle membrane  clathrin-coated endocytic vesicle membrane  trans-Golgi network membrane  regulation of defense response to virus by virus  membrane organization  
Pathways : KEGGLysosome   
NDEx NetworkAP1S2
Atlas of Cancer Signalling NetworkAP1S2
Wikipedia pathwaysAP1S2
Orthology - Evolution
OrthoDB8905
GeneTree (enSembl)ENSG00000182287
Phylogenetic Trees/Animal Genes : TreeFamAP1S2
HOVERGENP56377
HOGENOMP56377
Homologs : HomoloGeneAP1S2
Homology/Alignments : Family Browser (UCSC)AP1S2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP1S2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP1S2
dbVarAP1S2
ClinVarAP1S2
1000_GenomesAP1S2 
Exome Variant ServerAP1S2
ExAC (Exome Aggregation Consortium)AP1S2 (select the gene name)
Genetic variants : HAPMAP8905
Genomic Variants (DGV)AP1S2 [DGVbeta]
DECIPHER (Syndromes)X:15843929-15873137  ENSG00000182287
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300629   
Orphanet1720    11705   
MedgenAP1S2
Genetic Testing Registry AP1S2
NextProtP56377 [Medical]
TSGene8905
GENETestsAP1S2
Huge Navigator AP1S2 [HugePedia]
snp3D : Map Gene to Disease8905
BioCentury BCIQAP1S2
ClinGenAP1S2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8905
Chemical/Pharm GKB GenePA24851
Clinical trialAP1S2
Miscellaneous
canSAR (ICR)AP1S2 (select the gene name)
Probes
Litterature
PubMed42 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP1S2
EVEXAP1S2
GoPubMedAP1S2
iHOPAP1S2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:54:38 CET 2017

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