XPNPEP2 (X-prolyl aminopeptidase 2)

2016-10-01  

Identity

HGNC
LOCATION
Xq26.1
LOCUSID
ALIAS
AEACEI,APP2

Other Information

Locus ID:

NCBI: 7512
MIM: 300145
HGNC: 12823
Ensembl: ENSG00000122121

Variants:

dbSNP: 7512
ClinVar: 7512
TCGA: ENSG00000122121
COSMIC: XPNPEP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000122121ENST00000371105Q5JZ40
ENSG00000122121ENST00000371106O43895

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Protein digestion and absorptionKEGGko04974
Protein digestion and absorptionKEGGhsa04974
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
312969012019XPNPEP2 is associated with lymph node metastasis in prostate cancer patients.5
312969012019XPNPEP2 is associated with lymph node metastasis in prostate cancer patients.5
286709572017XPNPEP2 is overexpressed in cervical cancer and promotes cervical cancer metastasis.12
286709572017XPNPEP2 is overexpressed in cervical cancer and promotes cervical cancer metastasis.12
277888822016Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families.6
277888822016Hereditary angioedema with F12 mutation: Clinical features and enzyme polymorphisms in 9 Southwestern Spanish families.6
232761812013The development of a novel molecular assay examining the role of aminopeptidase P polymorphisms in acute hypotensive transfusion reactions.1
232761812013The development of a novel molecular assay examining the role of aminopeptidase P polymorphisms in acute hypotensive transfusion reactions.1
210520312011Identification of genetic factors associated with susceptibility to angiotensin-converting enzyme inhibitors-induced cough.15
218986572011A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.18
210520312011Identification of genetic factors associated with susceptibility to angiotensin-converting enzyme inhibitors-induced cough.15
218986572011A functional XPNPEP2 promoter haplotype leads to reduced plasma aminopeptidase P and increased risk of ACE inhibitor-induced angioedema.18
206253472010Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema.28
206253472010Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema.28
206253472010Sex-dependent and race-dependent association of XPNPEP2 C-2399A polymorphism with angiotensin-converting enzyme inhibitor-associated angioedema.28

Citation

Dessen P

XPNPEP2 (X-prolyl aminopeptidase 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56515/xpnpep2-(x-prolyl-aminopeptidase-2)