Gene Gene information from NCBI Gene database.
Entrez ID 7512
Gene name X-prolyl aminopeptidase 2
Gene symbol XPNPEP2
Synonyms (NCBI Gene)
AEACEIAPP2
Chromosome X
Chromosome location Xq26.1
Summary Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the `pita bread fold` family and occ
miRNA miRNA information provided by mirtarbase database.
80
miRTarBase ID miRNA Experiments Reference
MIRT504165 hsa-miR-1272 PAR-CLIP 20371350
MIRT504164 hsa-miR-6804-5p PAR-CLIP 20371350
MIRT504163 hsa-miR-3682-3p PAR-CLIP 20371350
MIRT504162 hsa-miR-8069 PAR-CLIP 20371350
MIRT504161 hsa-miR-4502 PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0004177 Function Aminopeptidase activity IEA
GO:0004177 Function Aminopeptidase activity TAS 9375790
GO:0005576 Component Extracellular region TAS
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
300145 12823 ENSG00000122121
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43895
Protein name Xaa-Pro aminopeptidase 2 (EC 3.4.11.9) (Aminoacylproline aminopeptidase) (Membrane-bound aminopeptidase P) (Membrane-bound APP) (Membrane-bound AmP) (mAmP) (X-Pro aminopeptidase 2)
Protein function Membrane-bound metalloprotease which catalyzes the removal of a penultimate prolyl residue from the N-termini of peptides, such as Arg-Pro-Pro. May play a role in the metabolism of the vasodilator bradykinin.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01321 Creatinase_N 54 191 Creatinase/Prolidase N-terminal domain Domain
PF16189 Creatinase_N_2 195 361 Domain
PF00557 Peptidase_M24 362 576 Metallopeptidase family M24 Domain
PF16188 Peptidase_M24_C 584 648 C-terminal region of peptidase_M24 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in kidney, lung, heart, placenta, liver, small intestine and colon. No expression in brain, skeletal muscle, pancreas, spleen, thymus, prostate, testis and ovary. {ECO:0000269|PubMed:9375790}.
Sequence
Sequence length 674
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Protein digestion and absorption   Post-translational modification: synthesis of GPI-anchored proteins
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
3
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Premature ovarian failure Uncertain significance rs1926453223 RCV001270243
Susceptibility to angioedema induced by ACE inhibitors risk factor; Uncertain significance rs3788853, rs2522096348 RCV000012323
RCV003991690
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Angioedema Associate 16175507, 20625347
Angioedemas Hereditary Associate 25401373
Hemoglobin C Disease Associate 17522242
Hypotension Associate 23276181
Lymphatic Metastasis Associate 31296901
Neoplasm Metastasis Stimulate 31296901
Ovarian Diseases Associate 39595984
Primary Ovarian Insufficiency Associate 39595984
Prostatic Neoplasms Inhibit 31296901