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AP2M1 (adaptor related protein complex 2 mu 1 subunit)

Identity

Alias_namesCLAPM1
adaptor-related protein complex 2
Alias_symbol (synonym)AP50
mu2
Other alias
HGNC (Hugo) AP2M1
LocusID (NCBI) 1173
Atlas_Id 663
Location 3q27.1  [Link to chromosome band 3q27]
Location_base_pair Starts at 184174846 and ends at 184184091 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP2M1 (3q27.1) / AP2M1 (3q27.1)AP2M1 (3q27.1) / GTF2H5 (6q25.3)AP2M1 (3q27.1) / LOC440434 (17q12)
AP2M1 (3q27.1) / SEC63 (6q21)C7orf73 (7q33) / AP2M1 (3q27.1)ELN (7q11.23) / AP2M1 (3q27.1)
MCM4 (8q11.21) / AP2M1 (3q27.1)PPARA (22q13.31) / AP2M1 (3q27.1)SERPINH1 (11q13.5) / AP2M1 (3q27.1)
AP2M1 3q27.1 / SEC63 6q21

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)AP2M1   564
Cards
Entrez_Gene (NCBI)AP2M1  1173  adaptor related protein complex 2 mu 1 subunit
AliasesAP50; CLAPM1; mu2
GeneCards (Weizmann)AP2M1
Ensembl hg19 (Hinxton)ENSG00000161203 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000161203 [Gene_View]  chr3:184174846-184184091 [Contig_View]  AP2M1 [Vega]
ICGC DataPortalENSG00000161203
TCGA cBioPortalAP2M1
AceView (NCBI)AP2M1
Genatlas (Paris)AP2M1
WikiGenes1173
SOURCE (Princeton)AP2M1
Genetics Home Reference (NIH)AP2M1
Genomic and cartography
GoldenPath hg38 (UCSC)AP2M1  -     chr3:184174846-184184091 +  3q27.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2M1  -     3q27.1   [Description]    (hg19-Feb_2009)
EnsemblAP2M1 - 3q27.1 [CytoView hg19]  AP2M1 - 3q27.1 [CytoView hg38]
Mapping of homologs : NCBIAP2M1 [Mapview hg19]  AP2M1 [Mapview hg38]
OMIM601024   
Gene and transcription
Genbank (Entrez)AK057883 AK294159 AK295999 AK297578 AK297849
RefSeq transcript (Entrez)NM_001025205 NM_001311198 NM_004068
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP2M1
Cluster EST : UnigeneHs.518460 [ NCBI ]
CGAP (NCI)Hs.518460
Alternative Splicing GalleryENSG00000161203
Gene ExpressionAP2M1 [ NCBI-GEO ]   AP2M1 [ EBI - ARRAY_EXPRESS ]   AP2M1 [ SEEK ]   AP2M1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2M1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1173
GTEX Portal (Tissue expression)AP2M1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96CW1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96CW1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96CW1
Splice isoforms : SwissVarQ96CW1
PhosPhoSitePlusQ96CW1
Domaine pattern : Prosite (Expaxy)CLAT_ADAPTOR_M_1 (PS00990)    CLAT_ADAPTOR_M_2 (PS00991)    MHD (PS51072)   
Domains : Interpro (EBI)AP_mu_sigma_su    Clathrin_mu    Clathrin_mu_CS    Longin-like_dom    MHD   
Domain families : Pfam (Sanger)Adap_comp_sub (PF00928)    Clat_adaptor_s (PF01217)   
Domain families : Pfam (NCBI)pfam00928    pfam01217   
Conserved Domain (NCBI)AP2M1
DMDM Disease mutations1173
Blocks (Seattle)AP2M1
PDB (SRS)1H6E   
PDB (PDBSum)1H6E   
PDB (IMB)1H6E   
PDB (RSDB)1H6E   
Structural Biology KnowledgeBase1H6E   
SCOP (Structural Classification of Proteins)1H6E   
CATH (Classification of proteins structures)1H6E   
SuperfamilyQ96CW1
Human Protein AtlasENSG00000161203
Peptide AtlasQ96CW1
HPRD03014
IPIIPI00022256   IPI00619900   IPI01015530   IPI01009864   IPI00790642   IPI00909772   IPI00925682   IPI00925403   IPI00925212   IPI00925072   IPI00924869   
Protein Interaction databases
DIP (DOE-UCLA)Q96CW1
IntAct (EBI)Q96CW1
FunCoupENSG00000161203
BioGRIDAP2M1
STRING (EMBL)AP2M1
ZODIACAP2M1
Ontologies - Pathways
QuickGOQ96CW1
Ontology : AmiGOsignal sequence binding  transporter activity  protein binding  lysosomal membrane  cytosol  plasma membrane  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  lipid binding  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-2 adaptor complex  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  clathrin adaptor activity  endolysosome membrane  ion channel binding  ephrin receptor signaling pathway  regulation of defense response to virus by virus  low-density lipoprotein particle receptor binding  Wnt signaling pathway, planar cell polarity pathway  membrane organization  extracellular exosome  clathrin-dependent endocytosis  negative regulation of protein localization to plasma membrane  
Ontology : EGO-EBIsignal sequence binding  transporter activity  protein binding  lysosomal membrane  cytosol  plasma membrane  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  lipid binding  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-2 adaptor complex  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  clathrin adaptor activity  endolysosome membrane  ion channel binding  ephrin receptor signaling pathway  regulation of defense response to virus by virus  low-density lipoprotein particle receptor binding  Wnt signaling pathway, planar cell polarity pathway  membrane organization  extracellular exosome  clathrin-dependent endocytosis  negative regulation of protein localization to plasma membrane  
Pathways : BIOCARTA?-arrestins in GPCR Desensitization [Genes]    Phosphoinositides and their downstream targets. [Genes]    Endocytotic role of NDK, Phosphins and Dynamin [Genes]   
Pathways : KEGGEndocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease   
NDEx NetworkAP2M1
Atlas of Cancer Signalling NetworkAP2M1
Wikipedia pathwaysAP2M1
Orthology - Evolution
OrthoDB1173
GeneTree (enSembl)ENSG00000161203
Phylogenetic Trees/Animal Genes : TreeFamAP2M1
HOVERGENQ96CW1
HOGENOMQ96CW1
Homologs : HomoloGeneAP2M1
Homology/Alignments : Family Browser (UCSC)AP2M1
Gene fusions - Rearrangements
Fusion : MitelmanAP2M1/SEC63 [3q27.1/6q21]  
Fusion: TCGAAP2M1 3q27.1 SEC63 6q21 THCA
Fusion Cancer (Beijing)AP2M1 [3q27.1]  -  GTF2H5 [6q25.3]  [FUSC003411]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2M1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2M1
dbVarAP2M1
ClinVarAP2M1
1000_GenomesAP2M1 
Exome Variant ServerAP2M1
ExAC (Exome Aggregation Consortium)AP2M1 (select the gene name)
Genetic variants : HAPMAP1173
Genomic Variants (DGV)AP2M1 [DGVbeta]
DECIPHERAP2M1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP2M1 
Mutations
ICGC Data PortalAP2M1 
TCGA Data PortalAP2M1 
Broad Tumor PortalAP2M1
OASIS PortalAP2M1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAP2M1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAP2M1
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 AP2M1
DgiDB (Drug Gene Interaction Database)AP2M1
DoCM (Curated mutations)AP2M1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP2M1 (select a term)
intoGenAP2M1
Cancer3DAP2M1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601024   
Orphanet
MedgenAP2M1
Genetic Testing Registry AP2M1
NextProtQ96CW1 [Medical]
TSGene1173
GENETestsAP2M1
Target ValidationAP2M1
Huge Navigator AP2M1 [HugePedia]
snp3D : Map Gene to Disease1173
BioCentury BCIQAP2M1
ClinGenAP2M1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1173
Chemical/Pharm GKB GenePA24855
Clinical trialAP2M1
Miscellaneous
canSAR (ICR)AP2M1 (select the gene name)
Probes
Litterature
PubMed136 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP2M1
EVEXAP2M1
GoPubMedAP2M1
iHOPAP2M1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:57:27 CEST 2017

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