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Aliases for XPNPEP2 Gene

Aliases for XPNPEP2 Gene

  • X-Prolyl Aminopeptidase (Aminopeptidase P) 2, Membrane-Bound 2 3
  • 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
  • AEACEI 3 6
  • MAmP 3 4
  • Xaa-Pro Aminopeptidase 2 3
  • EC 3.4.11.9 4
  • 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 acquired angioedema. Among its related pathways are Protein digestion and absorption. GO annotations related to this gene include metallopeptidase 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

Genomic Location for XPNPEP2 Gene

Start:
129,738,970 bp from pter
End:
129,769,549 bp from pter
Size:
30,580 bases
Orientation:
Plus strand

Genomic View for XPNPEP2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    O43895-XPP2_HUMAN
    Recommended name:
    Xaa-Pro aminopeptidase 2
    Protein Accession:
    O43895
    Secondary Accessions:
    • A0AV16
    • O75994

    Protein attributes for XPNPEP2 Gene

    Size:
    674 amino acids
    Molecular mass:
    75625 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Note=Binds 2 manganese ions per subunit.;
    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:

No data available for DME Specific Peptides for XPNPEP2 Gene

Domains for XPNPEP2 Gene

Gene Families for XPNPEP2 Gene

Graphical View of Domain Structure for InterPro Entry

O43895

UniProtKB/Swiss-Prot:

XPP2_HUMAN :
  • O43895
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 --
GO:0016787 hydrolase activity --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with XPNPEP2: view

No data available for Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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

COMPARTMENTS
Jensen Localization Image for XPNPEP2 Gene COMPARTMENTS Subcellular localization image for XPNPEP2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
lysosome 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for XPNPEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane TAS 9375790
GO:0031225 anchored component of membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with XPNPEP2: view

Pathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis IEA --
GO:0008152 metabolic process --
genes like me logo Genes that share ontologies with XPNPEP2: view

Compounds for XPNPEP2 Gene

(2) HMDB Compounds for XPNPEP2 Gene

Compound Synonyms Cas Number PubMed IDs
Cobalt
  • Co
7440-48-4
Manganese
  • manganese
7439-96-5
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
XPNPEP2
ECgene alternative splicing isoforms for
XPNPEP2

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 (12.0) and Kidney - Cortex (10.8).

Integrated Proteomics: protein expression 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

O43895-XPP2_HUMAN
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 expressions with XPNPEP2: view

Orthologs for XPNPEP2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for XPNPEP2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia XPNPEP2 35
  • 99.28 (n)
  • 98.91 (a)
XPNPEP2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia XPNPEP2 35
  • 86.63 (n)
  • 85.88 (a)
XPNPEP2 36
  • 86 (a)
OneToOne
dog
(Canis familiaris)
Mammalia XPNPEP2 35
  • 86.05 (n)
  • 83.38 (a)
XPNPEP2 36
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Xpnpep2 35
  • 83.01 (n)
  • 81.43 (a)
Xpnpep2 16
Xpnpep2 36
  • 81 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia XPNPEP2 36
  • 72 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 68 (a)
OneToMany
-- 36
  • 82 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Xpnpep2 35
  • 82.37 (n)
  • 81.58 (a)
chicken
(Gallus gallus)
Aves XPNPEP2 35
  • 67.17 (n)
  • 65.45 (a)
XPNPEP2 36
  • 63 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia XPNPEP2 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xpnpep2 35
  • 62.81 (n)
  • 62.1 (a)
zebrafish
(Danio rerio)
Actinopterygii xpnpep2 35
  • 59.85 (n)
  • 58.96 (a)
xpnpep2 36
  • 53 (a)
OneToOne
zgc63528 35
fruit fly
(Drosophila melanogaster)
Insecta ApepP 36
  • 40 (a)
OneToMany
CG6225 37
  • 33 (a)
ApepP 37
  • 40 (a)
worm
(Caenorhabditis elegans)
Secernentea Y45G5AM.2 36
  • 16 (a)
ManyToMany
Y45G5AM.2 37
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRA1 36
  • 29 (a)
OneToMany
rice
(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

ENSEMBL:
Gene Tree for XPNPEP2 (if available)
TreeFam:
Gene Tree for XPNPEP2 (if available)

Paralogs for XPNPEP2 Gene

Paralogs for XPNPEP2 Gene

Selected 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 MAF
rs742248 -- 129,739,124(+) GAGCC(C/T)AGGAA utr-variant-5-prime
rs760820 -- 129,739,453(+) CCTTT(C/G)CATTC intron-variant
rs859575 -- 129,754,076(+) TGTCT(C/T)ATAGG intron-variant
rs859576 -- 129,754,767(-) CCAAC(A/G)CCCCC intron-variant
rs859578 -- 129,758,000(+) GTGAC(C/T)GATCA 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

Relevant External Links for XPNPEP2 Gene

HapMap Linkage Disequilibrium report
XPNPEP2
Human Gene Mutation Database (HGMD)
XPNPEP2
Locus Specific Mutation Databases (LSDB)
XPNPEP2

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

Disorders for XPNPEP2 Gene

(1) OMIM Diseases for XPNPEP2 Gene (300145)

UniProtKB/Swiss-Prot

XPP2_HUMAN
  • 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.

(1) University of Copenhagen DISEASES for XPNPEP2 Gene

Relevant External Links for XPNPEP2

Genetic Association Database (GAD)
XPNPEP2
Human Genome Epidemiology (HuGE) Navigator
XPNPEP2
genes like me logo Genes that share disorders with XPNPEP2: view

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
  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. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. (PMID: 16175507) Duan Q.L. … Rouleau G.A. (Am. J. Hum. Genet. 2005) 3 4 48
  4. Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema. (PMID: 20625347) Woodard-Grice A.V. … Brown N.J. (Pharmacogenet. Genomics 2010) 3 4 48
  5. A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema. (PMID: 21898657) Cilia La Corte A.L. … Hooper N.M. (Hum. Mutat. 2011) 3 4

Products for XPNPEP2 Gene

Sources for XPNPEP2 Gene

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