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Aliases for XPNPEP2 Gene

Aliases for XPNPEP2 Gene

  • X-Prolyl Aminopeptidase (Aminopeptidase P) 2, Membrane-Bound 2 3 5
  • Aminoacylproline Aminopeptidase 3 4
  • Membrane-Bound Aminopeptidase P 3 4
  • X-Pro Aminopeptidase 2 3 4
  • Membrane-Bound APP 3 4
  • Membrane-Bound AmP 3 4
  • MAmP 3 4
  • EC 4
  • AEACEI 3
  • APP2 3

External Ids for XPNPEP2 Gene

Previous GeneCards Identifiers for XPNPEP2 Gene

  • GC0XP123518
  • GC0XP125718
  • GC0XP126817
  • GC0XP127578
  • GC0XP128598
  • GC0XP128700
  • GC0XP128872
  • GC0XP118278

Summaries for XPNPEP2 Gene

Entrez Gene Summary for XPNPEP2 Gene

  • 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 occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]

GeneCards Summary for XPNPEP2 Gene

XPNPEP2 (X-Prolyl Aminopeptidase (Aminopeptidase P) 2, Membrane-Bound) is a Protein Coding gene. Diseases associated with XPNPEP2 include Angioedema Induced By Ace Inhibitors and Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema. Among its related pathways are Protein digestion and absorption. GO annotations related to this gene include hydrolase activity and aminopeptidase activity. An important paralog of this gene is XPNPEP1.

UniProtKB/Swiss-Prot for XPNPEP2 Gene

  • A metalloprotease that may play a role in the inflammatory process and other reactions produced in response to injury or infection. May also play a role in the metabolism of the vasodilator bradykinin.

Gene Wiki entry for XPNPEP2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for XPNPEP2 Gene

Genomics for XPNPEP2 Gene

Regulatory Elements for XPNPEP2 Gene

Enhancers for XPNPEP2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around XPNPEP2 on UCSC Golden Path with GeneCards custom track

Genomic Location for XPNPEP2 Gene

129,738,970 bp from pter
129,769,549 bp from pter
30,580 bases
Plus strand

Genomic View for XPNPEP2 Gene

Genes around XPNPEP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
XPNPEP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for XPNPEP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for XPNPEP2 Gene

Proteins for XPNPEP2 Gene

  • Protein details for XPNPEP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Xaa-Pro aminopeptidase 2
    Protein Accession:
    Secondary Accessions:
    • A0AV16
    • O75994

    Protein attributes for XPNPEP2 Gene

    674 amino acids
    Molecular mass:
    75625 Da
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Homotrimer.

neXtProt entry for XPNPEP2 Gene

Proteomics data for XPNPEP2 Gene at MOPED

Post-translational modifications for XPNPEP2 Gene

Other Protein References for XPNPEP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for XPNPEP2 (Aminopeptidase P2/XPNPEP2)

No data available for DME Specific Peptides for XPNPEP2 Gene

Domains & Families for XPNPEP2 Gene

Gene Families for XPNPEP2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peptidase M24B family.
  • Belongs to the peptidase M24B family.
genes like me logo Genes that share domains with XPNPEP2: view

Function for XPNPEP2 Gene

Molecular function for XPNPEP2 Gene

GENATLAS Biochemistry:
aminopeptidase P,75.49kDa,hydrolyzing N terminal imido bonds
UniProtKB/Swiss-Prot CatalyticActivity:
Release of any N-terminal amino acid, including proline, that is linked to proline, even from a dipeptide or tripeptide.
UniProtKB/Swiss-Prot Function:
A metalloprotease that may play a role in the inflammatory process and other reactions produced in response to injury or infection. May also play a role in the metabolism of the vasodilator bradykinin.

Enzyme Numbers (IUBMB) for XPNPEP2 Gene

Gene Ontology (GO) - Molecular Function for XPNPEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004177 aminopeptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
genes like me logo Genes that share ontologies with XPNPEP2: view

Phenotypes for XPNPEP2 Gene

genes like me logo Genes that share phenotypes with XPNPEP2: view

Human Phenotype Ontology for XPNPEP2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for XPNPEP2 Gene

Localization for XPNPEP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for XPNPEP2 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

Jensen Localization Image for XPNPEP2 Gene COMPARTMENTS Subcellular localization image for XPNPEP2 gene
Compartment Confidence
extracellular 5
plasma membrane 5
cytosol 1
endoplasmic reticulum 1
lysosome 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for XPNPEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with XPNPEP2: view

Pathways & Interactions for XPNPEP2 Gene

genes like me logo Genes that share pathways with XPNPEP2: view

Pathways by source for XPNPEP2 Gene

1 KEGG pathway for XPNPEP2 Gene

Interacting Proteins for XPNPEP2 Gene

Gene Ontology (GO) - Biological Process for XPNPEP2 Gene


No data available for SIGNOR curated interactions for XPNPEP2 Gene

Drugs & Compounds for XPNPEP2 Gene

(2) Drugs for XPNPEP2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cobalt Pharma 159
Manganese Pharma 32
genes like me logo Genes that share compounds with XPNPEP2: view

Transcripts for XPNPEP2 Gene

mRNA/cDNA for XPNPEP2 Gene

Unigene Clusters for XPNPEP2 Gene

X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for XPNPEP2 Gene

No ASD Table

Relevant External Links for XPNPEP2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for XPNPEP2 Gene

mRNA expression in normal human tissues for XPNPEP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for XPNPEP2 Gene

This gene is overexpressed in Small Intestine - Terminal Ileum (x12.0) and Kidney - Cortex (x10.8).

Protein differential expression in normal tissues from HIPED for XPNPEP2 Gene

This gene is overexpressed in Urine (27.1), Fetal gut (25.3), and Pancreatic juice (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for XPNPEP2 Gene

SOURCE GeneReport for Unigene cluster for XPNPEP2 Gene Hs.170499

mRNA Expression by UniProt/SwissProt for XPNPEP2 Gene

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.
genes like me logo Genes that share expression patterns with XPNPEP2: view

Primer Products

No data available for Protein tissue co-expression partners for XPNPEP2 Gene

Orthologs for XPNPEP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XPNPEP2 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia XPNPEP2 35
  • 86.63 (n)
  • 85.88 (a)
  • 86 (a)
(Canis familiaris)
Mammalia XPNPEP2 35
  • 86.05 (n)
  • 83.38 (a)
  • 83 (a)
(Mus musculus)
Mammalia Xpnpep2 35
  • 83.01 (n)
  • 81.43 (a)
Xpnpep2 16
Xpnpep2 36
  • 81 (a)
(Pan troglodytes)
Mammalia XPNPEP2 35
  • 99.28 (n)
  • 98.91 (a)
  • 99 (a)
(Rattus norvegicus)
Mammalia Xpnpep2 35
  • 82.37 (n)
  • 81.58 (a)
(Monodelphis domestica)
Mammalia XPNPEP2 36
  • 72 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
-- 36
  • 82 (a)
(Gallus gallus)
Aves XPNPEP2 35
  • 67.17 (n)
  • 65.45 (a)
  • 63 (a)
(Anolis carolinensis)
Reptilia XPNPEP2 36
  • 62 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia xpnpep2 35
  • 62.81 (n)
  • 62.1 (a)
(Danio rerio)
Actinopterygii xpnpep2 35
  • 59.85 (n)
  • 58.96 (a)
zgc63528 35
xpnpep2 36
  • 53 (a)
fruit fly
(Drosophila melanogaster)
Insecta ApepP 37
  • 40 (a)
CG6225 37
  • 33 (a)
ApepP 36
  • 40 (a)
(Caenorhabditis elegans)
Secernentea Y45G5AM.2 37
  • 30 (a)
Y45G5AM.2 36
  • 16 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRA1 36
  • 29 (a)
(Oryza sativa)
Liliopsida Os.25261 35
Species with no ortholog for XPNPEP2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for XPNPEP2 Gene

Gene Tree for XPNPEP2 (if available)
Gene Tree for XPNPEP2 (if available)

Paralogs for XPNPEP2 Gene

Paralogs for XPNPEP2 Gene

(1) SIMAP similar genes for XPNPEP2 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with XPNPEP2: view

Variants for XPNPEP2 Gene

Sequence variations from dbSNP and Humsavar for XPNPEP2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type
rs138365897 - 129,750,474(+) GAGCA(C/T)TTGGC reference, missense
rs61733030 - 129,750,497(+) CTGGC(A/G)TCCGA reference, missense
rs41311662 - 129,750,526(+) CAAAA(G/T)GTCCC reference, missense
rs747689753 -- 129,741,408(+) AATCT(A/G)TCTGG intron-variant
rs747707460 -- 129,762,687(+) TGTGT(C/T)TCCCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for XPNPEP2 Gene

Variant ID Type Subtype PubMed ID
dgv2475e1 CNV Complex 17122850
nsv528290 CNV Gain 19592680
nsv526197 CNV Gain 19592680
nsv424981 CNV Loss 16902084

Variation tolerance for XPNPEP2 Gene

Residual Variation Intolerance Score: 22.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.85; 67.23% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for XPNPEP2 Gene

Human Gene Mutation Database (HGMD)

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for XPNPEP2 Gene

Disorders for XPNPEP2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for XPNPEP2 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • Angioedema induced by ACE inhibitors (AEACEI) [MIM:300909]: A potentially life-threatening side effect of ACE inhibitors that appears in a subset of patients taking these drugs for hypertension and cardiovascular disease treatment. AEACEI is characterized by swelling of the face, lips, tongue, and airway that can lead to suffocation and death if severe. {ECO:0000269 PubMed:16175507, ECO:0000269 PubMed:20625347, ECO:0000269 PubMed:21898657}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Relevant External Links for XPNPEP2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with XPNPEP2: view

No data available for Genatlas for XPNPEP2 Gene

Publications for XPNPEP2 Gene

  1. Cloning and tissue distribution of human membrane-bound aminopeptidase P. (PMID: 9375790) Venema R.C. … Ryan J.W. (Biochim. Biophys. Acta 1997) 2 3 4 23 67
  2. Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. (PMID: 9628831) Sprinkle T.J. … Ryan J.W. (Genomics 1998) 2 3 23
  3. Genetic analysis of Factor XII and bradykinin catabolic enzymes in a family with estrogen-dependent inherited angioedema. (PMID: 19178938) Duan Q.L. … Rouleau G.A. (J. Allergy Clin. Immunol. 2009) 3 23
  4. Physical mapping of nine Xq translocation breakpoints and identification of XPNPEP2 as a premature ovarian failure candidate gene. (PMID: 10894934) Prueitt R.L. … Zinn A.R. (Cytogenet. Cell Genet. 2000) 3 23
  5. The development of a novel molecular assay examining the role of aminopeptidase P polymorphisms in acute hypotensive transfusion reactions. (PMID: 23276181) Hui Y. … Tormey C.A. (Arch. Pathol. Lab. Med. 2013) 3

Products for XPNPEP2 Gene

Sources for XPNPEP2 Gene