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XPNPEP2 (X-prolyl aminopeptidase 2)

Identity

Alias_namesX-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound
Xaa-Pro aminopeptidase 2
Other aliasAEACEI
APP2
HGNC (Hugo) XPNPEP2
LocusID (NCBI) 7512
Atlas_Id 56515
Location Xq26.1  [Link to chromosome band Xq26]
Location_base_pair Starts at 129738970 and ends at 129769549 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)

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)XPNPEP2   12823
Cards
Entrez_Gene (NCBI)XPNPEP2  7512  X-prolyl aminopeptidase 2
AliasesAEACEI; APP2
GeneCards (Weizmann)XPNPEP2
Ensembl hg19 (Hinxton)ENSG00000122121 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000122121 [Gene_View]  chrX:129738970-129769549 [Contig_View]  XPNPEP2 [Vega]
ICGC DataPortalENSG00000122121
TCGA cBioPortalXPNPEP2
AceView (NCBI)XPNPEP2
Genatlas (Paris)XPNPEP2
WikiGenes7512
SOURCE (Princeton)XPNPEP2
Genetics Home Reference (NIH)XPNPEP2
Genomic and cartography
GoldenPath hg38 (UCSC)XPNPEP2  -     chrX:129738970-129769549 +  Xq26.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)XPNPEP2  -     Xq26.1   [Description]    (hg19-Feb_2009)
EnsemblXPNPEP2 - Xq26.1 [CytoView hg19]  XPNPEP2 - Xq26.1 [CytoView hg38]
Mapping of homologs : NCBIXPNPEP2 [Mapview hg19]  XPNPEP2 [Mapview hg38]
OMIM300145   300909   
Gene and transcription
Genbank (Entrez)AF086417 AK300954 BC126174 BC143901 BF830085
RefSeq transcript (Entrez)NM_003399
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)XPNPEP2
Cluster EST : UnigeneHs.170499 [ NCBI ]
CGAP (NCI)Hs.170499
Alternative Splicing GalleryENSG00000122121
Gene ExpressionXPNPEP2 [ NCBI-GEO ]   XPNPEP2 [ EBI - ARRAY_EXPRESS ]   XPNPEP2 [ SEEK ]   XPNPEP2 [ MEM ]
Gene Expression Viewer (FireBrowse)XPNPEP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7512
GTEX Portal (Tissue expression)XPNPEP2
Human Protein AtlasENSG00000122121-XPNPEP2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43895   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43895  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43895
Splice isoforms : SwissVarO43895
PhosPhoSitePlusO43895
Domaine pattern : Prosite (Expaxy)PROLINE_PEPTIDASE (PS00491)   
Domains : Interpro (EBI)Creatin/AminoP/Spt16_NTD    Creatinase/Aminopeptidase_P_N    Creatinase_N    Pept_M24    Pept_M24B    Peptidase_M24_C    Peptidase_M24B_aminopep-P_CS   
Domain families : Pfam (Sanger)Creatinase_N (PF01321)    Peptidase_M24 (PF00557)    Peptidase_M24_C (PF16188)   
Domain families : Pfam (NCBI)pfam01321    pfam00557    pfam16188   
Conserved Domain (NCBI)XPNPEP2
DMDM Disease mutations7512
Blocks (Seattle)XPNPEP2
SuperfamilyO43895
Human Protein Atlas [tissue]ENSG00000122121-XPNPEP2 [tissue]
Peptide AtlasO43895
HPRD02144
IPIIPI00439344   IPI00552152   
Protein Interaction databases
DIP (DOE-UCLA)O43895
IntAct (EBI)O43895
FunCoupENSG00000122121
BioGRIDXPNPEP2
STRING (EMBL)XPNPEP2
ZODIACXPNPEP2
Ontologies - Pathways
QuickGOO43895
Ontology : AmiGOaminopeptidase activity  extracellular region  plasma membrane  C-terminal protein lipidation  proteolysis  membrane  anchored component of membrane  metal ion binding  metalloaminopeptidase activity  extracellular exosome  
Ontology : EGO-EBIaminopeptidase activity  extracellular region  plasma membrane  C-terminal protein lipidation  proteolysis  membrane  anchored component of membrane  metal ion binding  metalloaminopeptidase activity  extracellular exosome  
Pathways : KEGGProtein digestion and absorption   
NDEx NetworkXPNPEP2
Atlas of Cancer Signalling NetworkXPNPEP2
Wikipedia pathwaysXPNPEP2
Orthology - Evolution
OrthoDB7512
GeneTree (enSembl)ENSG00000122121
Phylogenetic Trees/Animal Genes : TreeFamXPNPEP2
HOVERGENO43895
HOGENOMO43895
Homologs : HomoloGeneXPNPEP2
Homology/Alignments : Family Browser (UCSC)XPNPEP2
Gene fusions - Rearrangements
Tumor Fusion PortalXPNPEP2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerXPNPEP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)XPNPEP2
dbVarXPNPEP2
ClinVarXPNPEP2
1000_GenomesXPNPEP2 
Exome Variant ServerXPNPEP2
ExAC (Exome Aggregation Consortium)ENSG00000122121
GNOMAD BrowserENSG00000122121
Genetic variants : HAPMAP7512
Genomic Variants (DGV)XPNPEP2 [DGVbeta]
DECIPHERXPNPEP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisXPNPEP2 
Mutations
ICGC Data PortalXPNPEP2 
TCGA Data PortalXPNPEP2 
Broad Tumor PortalXPNPEP2
OASIS PortalXPNPEP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICXPNPEP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDXPNPEP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)X-chromosome gene database
BioMutasearch XPNPEP2
DgiDB (Drug Gene Interaction Database)XPNPEP2
DoCM (Curated mutations)XPNPEP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)XPNPEP2 (select a term)
intoGenXPNPEP2
Cancer3DXPNPEP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300145    300909   
Orphanet14630   
DisGeNETXPNPEP2
MedgenXPNPEP2
Genetic Testing Registry XPNPEP2
NextProtO43895 [Medical]
TSGene7512
GENETestsXPNPEP2
Target ValidationXPNPEP2
Huge Navigator XPNPEP2 [HugePedia]
snp3D : Map Gene to Disease7512
BioCentury BCIQXPNPEP2
ClinGenXPNPEP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7512
Chemical/Pharm GKB GenePA37416
Clinical trialXPNPEP2
Miscellaneous
canSAR (ICR)XPNPEP2 (select the gene name)
Probes
Litterature
PubMed24 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineXPNPEP2
EVEXXPNPEP2
GoPubMedXPNPEP2
iHOPXPNPEP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:41:53 CET 2017

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