Human Gene XPNPEP2 (uc011mum.2)
  Description: Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.
RefSeq Summary (NM_003399): 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].
Transcript (Including UTRs)
   Position: hg19 chrX:128,872,946-128,882,057 Size: 9,112 Total Exon Count: 7 Strand: +
Coding Region
   Position: hg19 chrX:128,873,190-128,881,857 Size: 8,668 Coding Exon Count: 7 

Page IndexSequence and LinksGenetic AssociationsMalaCardsCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chrX:128,872,946-128,882,057)mRNA (may differ from genome)Protein (254 aa)
Gene SorterGenome BrowserOther Species FASTATable SchemaBioGPSCGAP
EnsemblEntrez GeneExonPrimerGeneCardsGeneNetworkHGNC
LynxMGIOMIMPubMedTreefamUniProtKB
Wikipedia

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): XPNPEP2
CDC HuGE Published Literature: XPNPEP2
Positive Disease Associations: angioedema
Related Studies:
  1. angioedema
    Duan, Q. L. et al. 2005, A variant in XPNPEP2 is associated with angioedema induced by angiotensin I-converting enzyme inhibitors., American journal of human genetics. 2005 Oct;77(4):617-26. [PubMed 16175507]

-  MalaCards Disease Associations
  MalaCards Gene Search: XPNPEP2
Diseases sorted by gene-association score: angioedema induced by ace inhibitors* (620), atrophic rhinitis (16), angioedema (13), hereditary angioedema (8)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D013749 Tetrachlorodibenzodioxin
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C029141 2,2,5,7,8-pentamethyl-1-hydroxychroman
  • C016403 2,4-dinitrotoluene
  • C023514 2,6-dinitrotoluene
  • C049584 2-amino-1-methyl-6-phenylimidazo(4,5-b)pyridine
  • D000082 Acetaminophen
  • D000638 Amiodarone
  • D000806 Angiotensin-Converting Enzyme Inhibitors
  • D001205 Ascorbic Acid
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 65.85 RPKM in Small Intestine - Terminal Ileum
Total median expression: 142.23 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -72.90244-0.299 Picture PostScript Text
3' UTR -42.50200-0.213 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000587 - Creatinase

Pfam Domains:
PF01321 - Creatinase/Prolidase N-terminal domain

SCOP Domains:
53092 - Creatinase/prolidase N-terminal domain

ModBase Predicted Comparative 3D Structure on B4DV70
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004177 aminopeptidase activity
GO:0016787 hydrolase activity

Biological Process:
GO:0006508 proteolysis


-  Descriptions from all associated GenBank mRNAs
  AK300954 - Homo sapiens cDNA FLJ59052 complete cds, highly similar to Xaa-Pro aminopeptidase 2 precursor (EC 3.4.11.9).
U90724 - Homo sapiens aminopeptidase P mRNA, complete cds.
JD055434 - Sequence 36458 from Patent EP1572962.
JD240630 - Sequence 221654 from Patent EP1572962.
JD399364 - Sequence 380388 from Patent EP1572962.
JD104261 - Sequence 85285 from Patent EP1572962.
JD306191 - Sequence 287215 from Patent EP1572962.
JD360086 - Sequence 341110 from Patent EP1572962.
BC126174 - Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound, mRNA (cDNA clone MGC:161452 IMAGE:8991890), complete cds.
BC143901 - Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound, mRNA (cDNA clone MGC:177436 IMAGE:9052419), complete cds.
JD402865 - Sequence 383889 from Patent EP1572962.
JD335264 - Sequence 316288 from Patent EP1572962.
JD468987 - Sequence 450011 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: AK300954, B4DV70, B4DV70_HUMAN, NM_003399, NP_003390
UCSC ID: uc011mum.2
RefSeq Accession: NM_003399
Protein: B4DV70

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: AK300954.1
exon count: 7CDS single in 3' UTR: no RNA size: 1232
ORF size: 765CDS single in intron: no Alignment % ID: 99.92
txCdsPredict score: 1730.00frame shift in genome: no % Coverage: 98.13
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 328# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.