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APPBP2 (amyloid beta precursor protein binding protein 2)

Identity

Alias_namesamyloid beta precursor protein (cytoplasmic tail)-binding protein 2
amyloid beta precursor protein (cytoplasmic tail) binding protein 2
Alias_symbol (synonym)KIAA0228
Hs.84084
PAT1
Other aliasAPP-BP2
HS.84084
HGNC (Hugo) APPBP2
LocusID (NCBI) 10513
Atlas_Id 679
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 58520510 and ends at 58603601 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
APPBP2 (17q23.2) / DNAH17 (17q25.3)APPBP2 (17q23.2) / RSBN1L (7q11.23)APPBP2 (17q23.2) / SEPT9 (17q25.2)
APPBP2 (17q23.2) / WISP2 (20q13.12)BCAS3 (17q23.2) / APPBP2 (17q23.2)SLPI (20q13.12) / APPBP2 (17q23.2)
SMARCA5 (4q31.21) / APPBP2 (17q23.2)TNRC6C (17q25.3) / APPBP2 (17q23.2)USP32 (17q23.1) / APPBP2 (17q23.2)
APPBP2 17q23.2 / DNAH17 17q25.3APPBP2 17q23.2 / SEPT9 17q25.2APPBP2 17q23.2 / WISP2 20q13.12
BCAS3 17q23.2 / APPBP2 17q23.2TNRC6C 17q25.3 / APPBP2 17q23.2USP32 17q23.1 / APPBP2 17q23.2

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)APPBP2   622
Cards
Entrez_Gene (NCBI)APPBP2  10513  amyloid beta precursor protein binding protein 2
AliasesAPP-BP2; HS.84084; PAT1
GeneCards (Weizmann)APPBP2
Ensembl hg19 (Hinxton)ENSG00000062725 [Gene_View]  chr17:58520510-58603601 [Contig_View]  APPBP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000062725 [Gene_View]  chr17:58520510-58603601 [Contig_View]  APPBP2 [Vega]
ICGC DataPortalENSG00000062725
TCGA cBioPortalAPPBP2
AceView (NCBI)APPBP2
Genatlas (Paris)APPBP2
WikiGenes10513
SOURCE (Princeton)APPBP2
Genetics Home Reference (NIH)APPBP2
Genomic and cartography
GoldenPath hg19 (UCSC)APPBP2  -     chr17:58520510-58603601 -  17q23.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)APPBP2  -     17q23.2   [Description]    (hg38-Dec_2013)
EnsemblAPPBP2 - 17q23.2 [CytoView hg19]  APPBP2 - 17q23.2 [CytoView hg38]
Mapping of homologs : NCBIAPPBP2 [Mapview hg19]  APPBP2 [Mapview hg38]
OMIM605324   
Gene and transcription
Genbank (Entrez)AF017782 AK292227 AK307666 AL157428 BC018121
RefSeq transcript (Entrez)NM_001282476 NM_006380
RefSeq genomic (Entrez)NC_000017 NC_018928 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)APPBP2
Cluster EST : UnigeneHs.84084 [ NCBI ]
CGAP (NCI)Hs.84084
Alternative Splicing GalleryENSG00000062725
Gene ExpressionAPPBP2 [ NCBI-GEO ]   APPBP2 [ EBI - ARRAY_EXPRESS ]   APPBP2 [ SEEK ]   APPBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)APPBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10513
GTEX Portal (Tissue expression)APPBP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ92624   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ92624  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ92624
Splice isoforms : SwissVarQ92624
PhosPhoSitePlusQ92624
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)TPR-contain_dom    TPR-like_helical_dom    TPR_repeat   
Domain families : Pfam (Sanger)TPR_10 (PF13374)   
Domain families : Pfam (NCBI)pfam13374   
Conserved Domain (NCBI)APPBP2
DMDM Disease mutations10513
Blocks (Seattle)APPBP2
SuperfamilyQ92624
Human Protein AtlasENSG00000062725
Peptide AtlasQ92624
HPRD05616
IPIIPI00007393   
Protein Interaction databases
DIP (DOE-UCLA)Q92624
IntAct (EBI)Q92624
FunCoupENSG00000062725
BioGRIDAPPBP2
STRING (EMBL)APPBP2
ZODIACAPPBP2
Ontologies - Pathways
QuickGOQ92624
Ontology : AmiGOmicrotubule motor activity  protein binding  nucleus  cytoplasm  cytoplasm  microtubule  microtubule associated complex  intracellular protein transport  cytoplasmic vesicle membrane  intracellular transport  
Ontology : EGO-EBImicrotubule motor activity  protein binding  nucleus  cytoplasm  cytoplasm  microtubule  microtubule associated complex  intracellular protein transport  cytoplasmic vesicle membrane  intracellular transport  
NDEx NetworkAPPBP2
Atlas of Cancer Signalling NetworkAPPBP2
Wikipedia pathwaysAPPBP2
Orthology - Evolution
OrthoDB10513
GeneTree (enSembl)ENSG00000062725
Phylogenetic Trees/Animal Genes : TreeFamAPPBP2
HOVERGENQ92624
HOGENOMQ92624
Homologs : HomoloGeneAPPBP2
Homology/Alignments : Family Browser (UCSC)APPBP2
Gene fusions - Rearrangements
Fusion : MitelmanAPPBP2/DNAH17 [17q23.2/17q25.3]  
Fusion : MitelmanAPPBP2/SEPT9 [17q23.2/17q25.2]  [t(17;17)(q23;q25)]  
Fusion : MitelmanAPPBP2/WISP2 [17q23.2/20q13.12]  [t(17;20)(q23;q13)]  
Fusion : MitelmanBCAS3/APPBP2 [17q23.2/17q23.2]  [t(17;17)(q23;q23)]  
Fusion : MitelmanTNRC6C/APPBP2 [17q25.3/17q23.2]  [t(17;17)(q23;q25)]  
Fusion : MitelmanUSP32/APPBP2 [17q23.1/17q23.2]  [t(17;17)(q23;q23)]  
Fusion: TCGAAPPBP2 17q23.2 DNAH17 17q25.3 BRCA
Fusion: TCGAAPPBP2 17q23.2 SEPT9 17q25.2 BRCA
Fusion: TCGAAPPBP2 17q23.2 WISP2 20q13.12 BRCA
Fusion: TCGABCAS3 17q23.2 APPBP2 17q23.2 BRCA
Fusion: TCGATNRC6C 17q25.3 APPBP2 17q23.2 BRCA
Fusion: TCGAUSP32 17q23.1 APPBP2 17q23.2 BRCA LUAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPPBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APPBP2
dbVarAPPBP2
ClinVarAPPBP2
1000_GenomesAPPBP2 
Exome Variant ServerAPPBP2
ExAC (Exome Aggregation Consortium)APPBP2 (select the gene name)
Genetic variants : HAPMAP10513
Genomic Variants (DGV)APPBP2 [DGVbeta]
DECIPHER (Syndromes)17:58520510-58603601  ENSG00000062725
CONAN: Copy Number AnalysisAPPBP2 
Mutations
ICGC Data PortalAPPBP2 
TCGA Data PortalAPPBP2 
Broad Tumor PortalAPPBP2
OASIS PortalAPPBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPPBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPPBP2
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 APPBP2
DgiDB (Drug Gene Interaction Database)APPBP2
DoCM (Curated mutations)APPBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APPBP2 (select a term)
intoGenAPPBP2
Cancer3DAPPBP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605324   
Orphanet
MedgenAPPBP2
Genetic Testing Registry APPBP2
NextProtQ92624 [Medical]
TSGene10513
GENETestsAPPBP2
Huge Navigator APPBP2 [HugePedia]
snp3D : Map Gene to Disease10513
BioCentury BCIQAPPBP2
ClinGenAPPBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10513
Chemical/Pharm GKB GenePA24912
Clinical trialAPPBP2
Miscellaneous
canSAR (ICR)APPBP2 (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPPBP2
EVEXAPPBP2
GoPubMedAPPBP2
iHOPAPPBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:44 CEST 2017

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