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Aliases for XPNPEP2 Gene

Aliases for XPNPEP2 Gene

  • X-Prolyl Aminopeptidase 2 2 3 5
  • X-Prolyl Aminopeptidase (Aminopeptidase P) 2, Membrane-Bound 2 3
  • Aminoacylproline Aminopeptidase 3 4
  • Membrane-Bound Aminopeptidase P 3 4
  • Xaa-Pro Aminopeptidase 2 2 3
  • X-Pro Aminopeptidase 2 3 4
  • Membrane-Bound APP 3 4
  • Membrane-Bound AmP 3 4
  • MAmP 3 4
  • EC 3.4.11.9 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 2) is a Protein Coding gene. Diseases associated with XPNPEP2 include Angioedema Induced By Ace Inhibitors and Atrophic Rhinitis. Among its related pathways are Metabolism of proteins and Collagen chain trimerization. Gene Ontology (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

  • 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.

Gene Wiki entry for XPNPEP2 Gene

Additional gene information for XPNPEP2 Gene

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

Genomics for XPNPEP2 Gene

GeneHancer (GH) Regulatory Elements for XPNPEP2 Gene

Promoters and enhancers for XPNPEP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XI129733 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 562.9 -2.1 -2124 7.6 ZSCAN4 RAD21 YY1 RCOR1 FOS EGR2 ZNF680 RXRA CEBPB REST XPNPEP2 LOC105373334 GC0XP129460
GH0XI129770 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.8 +40.8 40788 17.9 HDGF PKNOX1 FOXA2 SMAD1 ZFP64 IRF4 YY1 TCF12 ZNF766 GATA2 SASH3 ZNF280C BCORL1 XPNPEP2 UTP14A SLC25A14 OCRL ELF4 ENSG00000240143 ZDHHC9
GH0XI129767 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.5 +30.3 30262 2.5 MAX POLR2A ATF7 IKZF2 RUNX3 ZNF687 CBFB NRF1 BHLHE40 TRIM22 XPNPEP2 UTP14A RBMX2 SASH3 GC0XP129460
GH0XI129808 Enhancer 0.9 FANTOM5 Ensembl dbSUPER 13.3 +69.4 69434 0.6 FOSL1 CEBPB CEBPG HNF4A XPNPEP2 ZDHHC9 ELF4 ENSG00000275070
GH0XI129607 Enhancer 0.9 Ensembl ENCODE 12.6 -131.9 -131863 0.2 CTCF KLF1 ZNF654 TRIM22 REST RAD21 CC2D1A ZNF366 ARID2 ZNF143 UTP14A BCORL1 XPNPEP2 APLN ZDHHC9 RBMX2 OCRL GC0XP129460
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around XPNPEP2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the XPNPEP2 gene promoter:

Genomic Locations for XPNPEP2 Gene

Genomic Locations for XPNPEP2 Gene
chrX:129,738,970-129,769,549
(GRCh38/hg38)
Size:
30,580 bases
Orientation:
Plus strand
chrX:128,872,946-128,903,525
(GRCh37/hg19)

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:
    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=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homotrimer.

neXtProt entry for XPNPEP2 Gene

Post-translational modifications for XPNPEP2 Gene

  • N-glycosylated.
  • Glycosylation at posLast=3535, isoforms=49, posLast=6565, isoforms=278, and posLast=291291

Other Protein References for XPNPEP2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for XPNPEP2 Gene

Domains & Families for XPNPEP2 Gene

Gene Families for XPNPEP2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted secreted proteins

Graphical View of Domain Structure for InterPro Entry

O43895

UniProtKB/Swiss-Prot:

XPP2_HUMAN :
  • Belongs to the peptidase M24B family.
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 BiophysicochemicalProperties:
Kinetic parameters: KM=0.837 mM for Arg-Pro-Pro {ECO:0000269 PubMed:15361070}; KM=75 uM for Arg-Pro-Pro-Gly-Phe-Ser-Pro-Phe-Arg (bradykinin) {ECO:0000269 PubMed:15361070}; KM=56 uM for Arg-Pro-Pro-Gly-Phe-Ser-Pro-Phe (bradykinin[1-8]) {ECO:0000269 PubMed:15361070}; KM=18 uM for synthetic fluorescent substrate Lys(Dnp)-Pro-Pro- Gly-Phe-Ser-Pro-Lys(Abz)NH(2) {ECO:0000269 PubMed:15361070}; KM=20 uM for synthetic fluorescent substrate Lys(Dnp)-Pro-Pro- Gly-Lys(Abz)NH(2) {ECO:0000269 PubMed:15361070}; KM=19 uM for synthetic fluorescent substrate Lys(Dnp)-Pro-Pro- Lys(Abz)NH(2) {ECO:0000269 PubMed:15361070}; pH dependence: Optimum pH is 7.4. {ECO:0000269 PubMed:15361070};
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 EnzymeRegulation:
Inhibited by apstatin and the chelating agent 1,10-phenanthroline. Also inhibited by high concentrations of Zn(2+). Not significantly inhibited by bestatin or phosphoramidon.
UniProtKB/Swiss-Prot 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.

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 TAS 9375790
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding 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

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Phenotypes From GWAS Catalog , Human Phenotype Ontology , 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

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for XPNPEP2 gene
Compartment Confidence
plasma membrane 5
extracellular 5
peroxisome 1
endoplasmic reticulum 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for XPNPEP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005886 plasma membrane TAS --
GO:0016020 membrane TAS 9375790
GO:0031225 anchored component of membrane IEA --
GO:0070062 extracellular exosome IDA 21082674
genes like me logo Genes that share ontologies with XPNPEP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for XPNPEP2 Gene

Pathways & Interactions for XPNPEP2 Gene

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

Pathways by source 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:0006501 C-terminal protein lipidation TAS --
GO:0006508 proteolysis IEA --
genes like me logo Genes that share ontologies with XPNPEP2: view

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
Manganese Approved Nutra 37
Cobalt Pharma 174
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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



NURSA nuclear receptor signaling pathways regulating expression of XPNPEP2 Gene:

XPNPEP2

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.

Evidence on tissue expression from TISSUES for XPNPEP2 Gene

  • Kidney(4.7)
  • Intestine(4.2)
  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for XPNPEP2 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
Regions:
Head and neck:
  • face
  • head
  • lip
  • mouth
  • tongue
General:
  • blood vessel
  • skin
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
chimpanzee
(Pan troglodytes)
Mammalia XPNPEP2 33 34
  • 99.28 (n)
cow
(Bos Taurus)
Mammalia XPNPEP2 33 34
  • 86.63 (n)
dog
(Canis familiaris)
Mammalia XPNPEP2 33 34
  • 86.05 (n)
mouse
(Mus musculus)
Mammalia Xpnpep2 33 16 34
  • 83.01 (n)
rat
(Rattus norvegicus)
Mammalia Xpnpep2 33
  • 82.37 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 82 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia XPNPEP2 34
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves XPNPEP2 33 34
  • 67.17 (n)
lizard
(Anolis carolinensis)
Reptilia XPNPEP2 34
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia xpnpep2 33
  • 62.81 (n)
zebrafish
(Danio rerio)
Actinopterygii xpnpep2 33 34
  • 59.85 (n)
zgc63528 33
fruit fly
(Drosophila melanogaster)
Insecta ApepP 35 34
  • 40 (a)
CG6225 35
  • 33 (a)
worm
(Caenorhabditis elegans)
Secernentea Y45G5AM.2 35 34
  • 30 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FRA1 34
  • 29 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.25261 33
Species where no ortholog for XPNPEP2 was found in the sources mined by GeneCards:
  • 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

(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 Variation AA Info Type
rs192592840 likely-benign, not specified 129,752,356(+) C/T intron_variant
rs386352381 uncertain-significance, not provided 129,746,336(+) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs3747343 benign, not specified 129,746,638(+) T/C coding_sequence_variant, synonymous_variant
rs1000287494 -- 129,763,171(+) G/A intron_variant
rs1000382321 -- 129,743,863(+) GGGGG/GGGG intron_variant

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

Variant ID Type Subtype PubMed ID
nsv528290 CNV gain 19592680
nsv526197 CNV gain 19592680
nsv424981 CNV deletion 16902084
esv2758893 CNV gain+loss 17122850

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)

Additional Variant Information for XPNPEP2 Gene

Human Gene Mutation Database (HGMD)
XPNPEP2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
XPNPEP2

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: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
angioedema induced by ace inhibitors
  • angioedema induced by ace inhibitors, susceptibility to
atrophic rhinitis
  • dry rhinitis
angioedema
  • angioneurotic edema
hereditary angioedema
  • hane
- elite association - COSMIC cancer census association via MalaCards

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.

Additional Disease Information for XPNPEP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
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 RC … Ryan JW (Biochimica et biophysica acta 1997) 2 3 4 22 58
  2. Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema. (PMID: 20625347) Woodard-Grice AV … Brown NJ (Pharmacogenetics and genomics 2010) 3 4 44 58
  3. A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors. (PMID: 16175507) Duan QL … Rouleau GA (American journal of human genetics 2005) 3 4 44 58
  4. Assignment of the membrane-bound human aminopeptidase P gene (XPNPEP2) to chromosome Xq25. (PMID: 9628831) Sprinkle TJ … Ryan JW (Genomics 1998) 2 3 22 58
  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 AL … Hooper NM (Human mutation 2011) 3 4 58

Products for XPNPEP2 Gene

Sources for XPNPEP2 Gene

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