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APPBP2 (amyloid beta precursor protein binding protein 2)

Identity

Alias (NCBI)APP-BP2
HS.84084
PAT1
HGNC (Hugo) APPBP2
HGNC Alias symbKIAA0228
Hs.84084
PAT1
HGNC Alias nameprotein interacting with APP tail 1
HGNC Previous nameamyloid beta precursor protein (cytoplasmic tail)-binding protein 2
 amyloid beta precursor protein (cytoplasmic tail) binding protein 2
LocusID (NCBI) 10513
Atlas_Id 679
Location 17q23.2  [Link to chromosome band 17q23]
Location_base_pair Starts at 60443158 and ends at 60526242 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)
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    amyloid beta precursor protein binding protein 2
AliasesAPP-BP2; HS.84084; PAT1
GeneCards (Weizmann)APPBP2
Ensembl hg19 (Hinxton)ENSG00000062725 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000062725 [Gene_View]  ENSG00000062725 [Sequence]  chr17:60443158-60526242 [Contig_View]  APPBP2 [Vega]
ICGC DataPortalENSG00000062725
TCGA cBioPortalAPPBP2
AceView (NCBI)APPBP2
Genatlas (Paris)APPBP2
SOURCE (Princeton)APPBP2
Genetics Home Reference (NIH)APPBP2
Genomic and cartography
GoldenPath hg38 (UCSC)APPBP2  -     chr17:60443158-60526242 -  17q23.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APPBP2  -     17q23.2   [Description]    (hg19-Feb_2009)
GoldenPathAPPBP2 - 17q23.2 [CytoView hg19]  APPBP2 - 17q23.2 [CytoView hg38]
ImmunoBaseENSG00000062725
Genome Data Viewer NCBIAPPBP2 [Mapview hg19]  
OMIM605324   
Gene and transcription
Genbank (Entrez)AF017782 AK292227 AK307666 AL157428 BC018121
RefSeq transcript (Entrez)NM_001282476 NM_006380
Consensus coding sequences : CCDS (NCBI)APPBP2
Gene ExpressionAPPBP2 [ NCBI-GEO ]   APPBP2 [ EBI - ARRAY_EXPRESS ]   APPBP2 [ SEEK ]   APPBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)APPBP2 [ Firebrowse - Broad ]
GenevisibleExpression of APPBP2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10513
GTEX Portal (Tissue expression)APPBP2
Human Protein AtlasENSG00000062725-APPBP2 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ92624
Domaine pattern : Prosite (Expaxy)TPR (PS50005)    TPR_REGION (PS50293)   
Domains : Interpro (EBI)APPBP2    TPR-contain_dom    TPR-like_helical_dom_sf    TPR_repeat   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)TPR (SM00028)  
Conserved Domain (NCBI)APPBP2
SuperfamilyQ92624
AlphaFold pdb e-kbQ92624   
Human Protein Atlas [tissue]ENSG00000062725-APPBP2 [tissue]
HPRD05616
Protein Interaction databases
DIP (DOE-UCLA)Q92624
IntAct (EBI)Q92624
BioGRIDAPPBP2
STRING (EMBL)APPBP2
ZODIACAPPBP2
Ontologies - Pathways
QuickGOQ92624
Ontology : AmiGOmicrotubule motor activity  protein binding  nucleus  nucleoplasm  cytoplasm  microtubule  microtubule associated complex  intracellular protein transport  protein ubiquitination  cytoplasmic vesicle membrane  Cul2-RING ubiquitin ligase complex  proteasome-mediated ubiquitin-dependent protein catabolic process  intracellular transport  ubiquitin ligase-substrate adaptor activity  
Ontology : EGO-EBImicrotubule motor activity  protein binding  nucleus  nucleoplasm  cytoplasm  microtubule  microtubule associated complex  intracellular protein transport  protein ubiquitination  cytoplasmic vesicle membrane  Cul2-RING ubiquitin ligase complex  proteasome-mediated ubiquitin-dependent protein catabolic process  intracellular transport  ubiquitin ligase-substrate adaptor activity  
NDEx NetworkAPPBP2
Atlas of Cancer Signalling NetworkAPPBP2
Wikipedia pathwaysAPPBP2
Orthology - Evolution
OrthoDB10513
GeneTree (enSembl)ENSG00000062725
Phylogenetic Trees/Animal Genes : TreeFamAPPBP2
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]  
Fusion : MitelmanAPPBP2/WISP2 [17q23.2/20q13.12]  
Fusion : MitelmanBCAS3/APPBP2 [17q23.2/17q23.2]  
Fusion : MitelmanTNRC6C/APPBP2 [17q25.3/17q23.2]  
Fusion : MitelmanUSP32/APPBP2 [17q23.1/17q23.2]  
Fusion : QuiverAPPBP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPPBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APPBP2
dbVarAPPBP2
ClinVarAPPBP2
MonarchAPPBP2
1000_GenomesAPPBP2 
Exome Variant ServerAPPBP2
GNOMAD BrowserENSG00000062725
Varsome BrowserAPPBP2
ACMGAPPBP2 variants
VarityQ92624
Genomic Variants (DGV)APPBP2 [DGVbeta]
DECIPHERAPPBP2 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DAPPBP2
Mutations and Diseases : HGMDAPPBP2
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaAPPBP2
DgiDB (Drug Gene Interaction Database)APPBP2
DoCM (Curated mutations)APPBP2
CIViC (Clinical Interpretations of Variants in Cancer)APPBP2
Cancer3DAPPBP2
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605324   
Orphanet
DisGeNETAPPBP2
MedgenAPPBP2
Genetic Testing Registry APPBP2
NextProtQ92624 [Medical]
GENETestsAPPBP2
Target ValidationAPPBP2
Huge Navigator APPBP2 [HugePedia]
ClinGenAPPBP2
Clinical trials, drugs, therapy
MyCancerGenomeAPPBP2
Protein Interactions : CTDAPPBP2
Pharm GKB GenePA24912
PharosQ92624
Clinical trialAPPBP2
Miscellaneous
canSAR (ICR)APPBP2
HarmonizomeAPPBP2
DataMed IndexAPPBP2
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXAPPBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 14:59:48 CEST 2021

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