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AP2B1 (adaptor related protein complex 2 beta 1 subunit)

Identity

Alias_namesADTB2
CLAPB1
adaptor-related protein complex 2
Other aliasAP105B
AP2-BETA
HGNC (Hugo) AP2B1
LocusID (NCBI) 163
Atlas_Id 51236
Location 17q12  [Link to chromosome band 17q12]
Location_base_pair Starts at 35587263 and ends at 35726417 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
AP2B1 (17q12) / ACAP2 (3q29)AP2B1 (17q12) / AP2B1 (17q12)AP2B1 (17q12) / DDX24 (14q32.12)
AP2B1 (17q12) / POLR2A (17p13.1)GOSR1 (17q11.2) / AP2B1 (17q12)KRT6A (12q13.13) / AP2B1 (17q12)
TAF15 (17q12) / AP2B1 (17q12)ZADH2 (18q22.3) / AP2B1 (17q12)GOSR1 17q11.2 / AP2B1 17q12
TAF15 17q12 / AP2B1 17q12

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)AP2B1   563
Cards
Entrez_Gene (NCBI)AP2B1  163  adaptor related protein complex 2 beta 1 subunit
AliasesADTB2; AP105B; AP2-BETA; CLAPB1
GeneCards (Weizmann)AP2B1
Ensembl hg19 (Hinxton)ENSG00000006125 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000006125 [Gene_View]  chr17:35587263-35726417 [Contig_View]  AP2B1 [Vega]
ICGC DataPortalENSG00000006125
TCGA cBioPortalAP2B1
AceView (NCBI)AP2B1
Genatlas (Paris)AP2B1
WikiGenes163
SOURCE (Princeton)AP2B1
Genetics Home Reference (NIH)AP2B1
Genomic and cartography
GoldenPath hg38 (UCSC)AP2B1  -     chr17:35587263-35726417 +  17q12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AP2B1  -     17q12   [Description]    (hg19-Feb_2009)
EnsemblAP2B1 - 17q12 [CytoView hg19]  AP2B1 - 17q12 [CytoView hg38]
Mapping of homologs : NCBIAP2B1 [Mapview hg19]  AP2B1 [Mapview hg38]
OMIM601025   
Gene and transcription
Genbank (Entrez)AI691147 AK289528 AK292531 AK295667 AK301522
RefSeq transcript (Entrez)NM_001030006 NM_001282
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AP2B1
Cluster EST : UnigeneHs.514819 [ NCBI ]
CGAP (NCI)Hs.514819
Alternative Splicing GalleryENSG00000006125
Gene ExpressionAP2B1 [ NCBI-GEO ]   AP2B1 [ EBI - ARRAY_EXPRESS ]   AP2B1 [ SEEK ]   AP2B1 [ MEM ]
Gene Expression Viewer (FireBrowse)AP2B1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)163
GTEX Portal (Tissue expression)AP2B1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP63010   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP63010  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP63010
Splice isoforms : SwissVarP63010
PhosPhoSitePlusP63010
Domains : Interpro (EBI)AP_beta    AP_complex_bsu_1_2_4    ARM-like    ARM-type_fold    Armadillo    B-adaptin_app_sub_C    Beta2_adaptin/TBP_C_dom    Clathrin/coatomer_adapt-like_N    Clathrin_a/b/g-adaptin_app_Ig    Clathrin_b-adaptin_app_Ig-like    Coatomer/calthrin_app_sub_C    Coatomer/clathrin_app_Ig-like   
Domain families : Pfam (Sanger)Adaptin_N (PF01602)    Alpha_adaptinC2 (PF02883)    B2-adapt-app_C (PF09066)   
Domain families : Pfam (NCBI)pfam01602    pfam02883    pfam09066   
Domain families : Smart (EMBL)Alpha_adaptinC2 (SM00809)  ARM (SM00185)  B2-adapt-app_C (SM01020)  
Conserved Domain (NCBI)AP2B1
DMDM Disease mutations163
Blocks (Seattle)AP2B1
PDB (SRS)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
PDB (PDBSum)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
PDB (IMB)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
PDB (RSDB)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
Structural Biology KnowledgeBase1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
SCOP (Structural Classification of Proteins)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
CATH (Classification of proteins structures)1E42    2G30    2IV8    2IV9    2JKR    2JKT    2VGL    2XA7    4UQI    5M5R   
SuperfamilyP63010
Human Protein AtlasENSG00000006125
Peptide AtlasP63010
HPRD03015
IPIIPI00784156   IPI00784366   IPI00909735   IPI01015580   IPI00790702   
Protein Interaction databases
DIP (DOE-UCLA)P63010
IntAct (EBI)P63010
FunCoupENSG00000006125
BioGRIDAP2B1
STRING (EMBL)AP2B1
ZODIACAP2B1
Ontologies - Pathways
QuickGOP63010
Ontology : AmiGOventricular septum development  signal sequence binding  protein binding  trans-Golgi network  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  protein transporter activity  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-2 adaptor complex  AP-2 adaptor complex  clathrin binding  clathrin binding  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  protein complex binding  clathrin adaptor activity  aorta development  endolysosome membrane  ephrin receptor signaling pathway  clathrin coat assembly  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  coronary vasculature development  membrane organization  clathrin-dependent endocytosis  neurotransmitter receptor internalization  
Ontology : EGO-EBIventricular septum development  signal sequence binding  protein binding  trans-Golgi network  cytosol  plasma membrane  intracellular protein transport  receptor-mediated endocytosis  microtubule-based movement  protein transporter activity  membrane  antigen processing and presentation of exogenous peptide antigen via MHC class II  AP-2 adaptor complex  AP-2 adaptor complex  clathrin binding  clathrin binding  endocytic vesicle membrane  clathrin-coated endocytic vesicle membrane  protein complex binding  clathrin adaptor activity  aorta development  endolysosome membrane  ephrin receptor signaling pathway  clathrin coat assembly  regulation of defense response to virus by virus  Wnt signaling pathway, planar cell polarity pathway  coronary vasculature development  membrane organization  clathrin-dependent endocytosis  neurotransmitter receptor internalization  
Pathways : KEGGEndocytosis    Synaptic vesicle cycle    Endocrine and other factor-regulated calcium reabsorption    Huntington's disease   
NDEx NetworkAP2B1
Atlas of Cancer Signalling NetworkAP2B1
Wikipedia pathwaysAP2B1
Orthology - Evolution
OrthoDB163
GeneTree (enSembl)ENSG00000006125
Phylogenetic Trees/Animal Genes : TreeFamAP2B1
HOVERGENP63010
HOGENOMP63010
Homologs : HomoloGeneAP2B1
Homology/Alignments : Family Browser (UCSC)AP2B1
Gene fusions - Rearrangements
Fusion : MitelmanGOSR1/AP2B1 [17q11.2/17q12]  [t(17;17)(q11;q12)]  
Fusion: TCGAGOSR1 17q11.2 AP2B1 17q12 LUAD
Fusion: TCGATAF15 17q12 AP2B1 17q12 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAP2B1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AP2B1
dbVarAP2B1
ClinVarAP2B1
1000_GenomesAP2B1 
Exome Variant ServerAP2B1
ExAC (Exome Aggregation Consortium)AP2B1 (select the gene name)
Genetic variants : HAPMAP163
Genomic Variants (DGV)AP2B1 [DGVbeta]
DECIPHERAP2B1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAP2B1 
Mutations
ICGC Data PortalAP2B1 
TCGA Data PortalAP2B1 
Broad Tumor PortalAP2B1
OASIS PortalAP2B1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDAP2B1
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 AP2B1
DgiDB (Drug Gene Interaction Database)AP2B1
DoCM (Curated mutations)AP2B1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AP2B1 (select a term)
intoGenAP2B1
Cancer3DAP2B1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601025   
Orphanet
MedgenAP2B1
Genetic Testing Registry AP2B1
NextProtP63010 [Medical]
TSGene163
GENETestsAP2B1
Target ValidationAP2B1
Huge Navigator AP2B1 [HugePedia]
snp3D : Map Gene to Disease163
BioCentury BCIQAP2B1
ClinGenAP2B1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD163
Chemical/Pharm GKB GenePA24854
Clinical trialAP2B1
Miscellaneous
canSAR (ICR)AP2B1 (select the gene name)
Probes
Litterature
PubMed109 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAP2B1
EVEXAP2B1
GoPubMedAP2B1
iHOPAP2B1
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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