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BACE2 (beta-site APP-cleaving enzyme 2)

Identity

Alias_namesAEPLC
Alias_symbol (synonym)CEAP1
DRAP
ALP56
Other aliasASP1
ASP21
BAE2
CDA13
HGNC (Hugo) BACE2
LocusID (NCBI) 25825
Atlas_Id 45519
Location 21q22.2  [Link to chromosome band 21q22]
Location_base_pair Starts at 42539728 and ends at 42654461 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BACE2 (21q22.2) / DNAJB6 (7q36.3)BACE2 (21q22.2) / DPY19L1 (7p14.3)BACE2 (21q22.2) / LASP1 (17q12)
BACE2 (21q22.2) / RGL1 (1q25.3)PARVA (11p15.3) / BACE2 (21q22.2)UTP14A (Xq26.1) / BACE2 (21q22.2)

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)BACE2   934
Cards
Entrez_Gene (NCBI)BACE2  25825  beta-site APP-cleaving enzyme 2
AliasesAEPLC; ALP56; ASP1; ASP21; 
BAE2; CDA13; CEAP1; DRAP
GeneCards (Weizmann)BACE2
Ensembl hg19 (Hinxton)ENSG00000182240 [Gene_View]  chr21:42539728-42654461 [Contig_View]  BACE2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000182240 [Gene_View]  chr21:42539728-42654461 [Contig_View]  BACE2 [Vega]
ICGC DataPortalENSG00000182240
TCGA cBioPortalBACE2
AceView (NCBI)BACE2
Genatlas (Paris)BACE2
WikiGenes25825
SOURCE (Princeton)BACE2
Genetics Home Reference (NIH)BACE2
Genomic and cartography
GoldenPath hg19 (UCSC)BACE2  -     chr21:42539728-42654461 +  21q22.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BACE2  -     21q22.2   [Description]    (hg38-Dec_2013)
EnsemblBACE2 - 21q22.2 [CytoView hg19]  BACE2 - 21q22.2 [CytoView hg38]
Mapping of homologs : NCBIBACE2 [Mapview hg19]  BACE2 [Mapview hg38]
OMIM605668   
Gene and transcription
Genbank (Entrez)AF050171 AF117892 AF178532 AF188276 AF188277
RefSeq transcript (Entrez)NM_012105 NM_138991 NM_138992
RefSeq genomic (Entrez)NC_000021 NC_018932 NT_011512 NW_004929426
Consensus coding sequences : CCDS (NCBI)BACE2
Cluster EST : UnigeneHs.529408 [ NCBI ]
CGAP (NCI)Hs.529408
Alternative Splicing GalleryENSG00000182240
Gene ExpressionBACE2 [ NCBI-GEO ]   BACE2 [ EBI - ARRAY_EXPRESS ]   BACE2 [ SEEK ]   BACE2 [ MEM ]
Gene Expression Viewer (FireBrowse)BACE2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)25825
GTEX Portal (Tissue expression)BACE2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5Z0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5Z0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5Z0
Splice isoforms : SwissVarQ9Y5Z0
Catalytic activity : Enzyme3.4.23.45 [ Enzyme-Expasy ]   3.4.23.453.4.23.45 [ IntEnz-EBI ]   3.4.23.45 [ BRENDA ]   3.4.23.45 [ KEGG ]   
PhosPhoSitePlusQ9Y5Z0
Domaine pattern : Prosite (Expaxy)ASP_PROTEASE (PS00141)    PEPTIDASE_A1 (PS51767)   
Domains : Interpro (EBI)Aspartic_peptidase_A1    Aspartic_peptidase_AS    BACE    BACE2    Peptidase_aspartic_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BACE2
DMDM Disease mutations25825
Blocks (Seattle)BACE2
PDB (SRS)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
PDB (PDBSum)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
PDB (IMB)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
PDB (RSDB)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
Structural Biology KnowledgeBase2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
SCOP (Structural Classification of Proteins)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
CATH (Classification of proteins structures)2EWY    3ZKG    3ZKI    3ZKM    3ZKN    3ZKQ    3ZKS    3ZKX    3ZL7    3ZLQ    4BEL    4BFB   
SuperfamilyQ9Y5Z0
Human Protein AtlasENSG00000182240
Peptide AtlasQ9Y5Z0
HPRD05744
IPIIPI00001954   IPI00024561   IPI00254431   IPI00944447   IPI00944495   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5Z0
IntAct (EBI)Q9Y5Z0
FunCoupENSG00000182240
BioGRIDBACE2
STRING (EMBL)BACE2
ZODIACBACE2
Ontologies - Pathways
QuickGOQ9Y5Z0
Ontology : AmiGObeta-amyloid binding  aspartic-type endopeptidase activity  endosome  endoplasmic reticulum  Golgi apparatus  proteolysis  membrane protein ectodomain proteolysis  cell surface  integral component of membrane  peptide hormone processing  protein catabolic process  negative regulation of amyloid precursor protein biosynthetic process  beta-amyloid metabolic process  
Ontology : EGO-EBIbeta-amyloid binding  aspartic-type endopeptidase activity  endosome  endoplasmic reticulum  Golgi apparatus  proteolysis  membrane protein ectodomain proteolysis  cell surface  integral component of membrane  peptide hormone processing  protein catabolic process  negative regulation of amyloid precursor protein biosynthetic process  beta-amyloid metabolic process  
Pathways : KEGGAlzheimer's disease   
NDEx NetworkBACE2
Atlas of Cancer Signalling NetworkBACE2
Wikipedia pathwaysBACE2
Orthology - Evolution
OrthoDB25825
GeneTree (enSembl)ENSG00000182240
Phylogenetic Trees/Animal Genes : TreeFamBACE2
HOVERGENQ9Y5Z0
HOGENOMQ9Y5Z0
Homologs : HomoloGeneBACE2
Homology/Alignments : Family Browser (UCSC)BACE2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBACE2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BACE2
dbVarBACE2
ClinVarBACE2
1000_GenomesBACE2 
Exome Variant ServerBACE2
ExAC (Exome Aggregation Consortium)BACE2 (select the gene name)
Genetic variants : HAPMAP25825
Genomic Variants (DGV)BACE2 [DGVbeta]
DECIPHER (Syndromes)21:42539728-42654461  ENSG00000182240
CONAN: Copy Number AnalysisBACE2 
Mutations
ICGC Data PortalBACE2 
TCGA Data PortalBACE2 
Broad Tumor PortalBACE2
OASIS PortalBACE2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBACE2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBACE2
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 BACE2
DgiDB (Drug Gene Interaction Database)BACE2
DoCM (Curated mutations)BACE2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BACE2 (select a term)
intoGenBACE2
Cancer3DBACE2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605668   
Orphanet
MedgenBACE2
Genetic Testing Registry BACE2
NextProtQ9Y5Z0 [Medical]
TSGene25825
GENETestsBACE2
Huge Navigator BACE2 [HugePedia]
snp3D : Map Gene to Disease25825
BioCentury BCIQBACE2
ClinGenBACE2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD25825
Chemical/Pharm GKB GenePA25233
Clinical trialBACE2
Miscellaneous
canSAR (ICR)BACE2 (select the gene name)
Probes
Litterature
PubMed62 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBACE2
EVEXBACE2
GoPubMedBACE2
iHOPBACE2
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 14:53:41 CEST 2017

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