Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7512
Gene name	X-prolyl aminopeptidase 2
Gene symbol	XPNPEP2
Synonyms (NCBI Gene)	AEACEIAPP2
Chromosome	X
Chromosome location	Xq26.1
Summary	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 occ

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miRTarBase ID	miRNA	Experiments	Reference
MIRT504165	hsa-miR-1272	PAR-CLIP	20371350
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT504162	hsa-miR-8069	PAR-CLIP	20371350
MIRT504161	hsa-miR-4502	PAR-CLIP	20371350
MIRT504165	hsa-miR-1272	PAR-CLIP	20371350
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT504162	hsa-miR-8069	PAR-CLIP	20371350
MIRT504161	hsa-miR-4502	PAR-CLIP	20371350
MIRT504165	hsa-miR-1272	PAR-CLIP	22012620
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	22012620
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT504162	hsa-miR-8069	PAR-CLIP	22012620
MIRT528572	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT504161	hsa-miR-4502	PAR-CLIP	22012620
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT504165	hsa-miR-1272	PAR-CLIP	20371350
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT504162	hsa-miR-8069	PAR-CLIP	20371350
MIRT504161	hsa-miR-4502	PAR-CLIP	20371350
MIRT504165	hsa-miR-1272	PAR-CLIP	20371350
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	20371350
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	20371350
MIRT504162	hsa-miR-8069	PAR-CLIP	20371350
MIRT504161	hsa-miR-4502	PAR-CLIP	20371350
MIRT504165	hsa-miR-1272	PAR-CLIP	22012620
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	22012620
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	22012620
MIRT504162	hsa-miR-8069	PAR-CLIP	22012620
MIRT528572	hsa-miR-885-3p	PAR-CLIP	22012620
MIRT504161	hsa-miR-4502	PAR-CLIP	22012620
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT504165	hsa-miR-1272	PAR-CLIP	23446348
MIRT504164	hsa-miR-6804-5p	PAR-CLIP	23446348
MIRT504163	hsa-miR-3682-3p	PAR-CLIP	23446348
MIRT504162	hsa-miR-8069	PAR-CLIP	23446348
MIRT504161	hsa-miR-4502	PAR-CLIP	23446348
MIRT1496211	hsa-miR-1292	CLIP-seq
MIRT1496212	hsa-miR-1293	CLIP-seq
MIRT1496213	hsa-miR-146b-3p	CLIP-seq
MIRT1496214	hsa-miR-1915	CLIP-seq
MIRT1496215	hsa-miR-3064-5p	CLIP-seq
MIRT1496216	hsa-miR-3173-5p	CLIP-seq
MIRT1496217	hsa-miR-3652	CLIP-seq
MIRT1496218	hsa-miR-4430	CLIP-seq
MIRT1496219	hsa-miR-4471	CLIP-seq
MIRT1496220	hsa-miR-4483	CLIP-seq
MIRT1496221	hsa-miR-4505	CLIP-seq
MIRT1496222	hsa-miR-629	CLIP-seq
MIRT1496223	hsa-miR-651	CLIP-seq
MIRT1496224	hsa-miR-874	CLIP-seq
MIRT2397077	hsa-miR-3137	CLIP-seq
MIRT2397078	hsa-miR-4274	CLIP-seq
MIRT2397079	hsa-miR-4519	CLIP-seq
MIRT2397080	hsa-miR-622	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004177	Function	Aminopeptidase activity	IEA
GO:0004177	Function	Aminopeptidase activity	TAS	9375790
GO:0005576	Component	Extracellular region	TAS
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	9375790
GO:0016787	Function	Hydrolase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0070006	Function	Metalloaminopeptidase activity	IEA
GO:0070062	Component	Extracellular exosome	HDA	19056867
GO:0070062	Component	Extracellular exosome	IDA	21082674
GO:0098552	Component	Side of membrane	IEA

MIM	HGNC	e!Ensembl
300145	12823	ENSG00000122121

O43895

Protein name

Xaa-Pro aminopeptidase 2 (EC 3.4.11.9) (Aminoacylproline aminopeptidase) (Membrane-bound aminopeptidase P) (Membrane-bound APP) (Membrane-bound AmP) (mAmP) (X-Pro aminopeptidase 2)

Protein 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.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01321	Creatinase_N	54 → 191	Creatinase/Prolidase N-terminal domain	Domain
PF16189	Creatinase_N_2	195 → 361		Domain
PF00557	Peptidase_M24	362 → 576	Metallopeptidase family M24	Domain
PF16188	Peptidase_M24_C	584 → 648	C-terminal region of peptidase_M24	Domain

Tissue specificity

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. {ECO:0000269|PubMed:9375790}.

Sequence

MARAHWGCCPWLVLLCACAWGHTKPVDLGGQDVRNCSTNPPYLPVTVVNTTMSLTALRQQ
MQTQNLSAYIIPGTDAHMNEYIGQHDERRAWITGFTGSAGTAVVTMKKAAVWTDSRYWTQ
AERQMDCNWELHKEVGTTPIVTWLLTEIPAGGRVGFDPFLLSIDTWESYDLALQGSNRQL
VSITTNLVDLVWGSERPPVPNQPIYALQEAFTGSTWQEKVSGVRSQMQKHQKVPTAVLLS
ALEETAWLFNLRASDIPYNPFFYSYTLLTDSSIRLFANKSRFSSETLSYLNSSCTGPMCV
QIEDYSQVRDSIQAYSLGDVRIWIGTSYTMYGIYEMIPKEKLVTDTYSPVMMTKAVKNSK
EQALLKASHVRDAVAVIRYLVWLEKNVPKGTVDEFSGAEIVDKFRGEEQFSSGPSFETIS
ASGLNAALAHYSPTKELNRKLSSDEMYLLDSGGQYWDGTTDITRTVHWGTPSAFQKEAYT
RVLIGNIDLSRLIFPAATSGRMVEAFARRALWDAGLNYGHGTGHGIGNFLCVHEWPVGFQ
SNNIAMAKGMFTSIEPGYYKDGEFGIRLEDVALVVEAKTKYPGSYLTFEVVSFVPYDRNL
IDVSLLSPEHLQYLNRYYQTIREKVGPELQRRQLLEEFEWLQQHTEPLAARAPDTASWAS
VLVVSTLAILGWSV

Sequence length

674

Interactions

View interactions

	KEGG		Reactome
	Protein digestion and absorption		Post-translational modification: synthesis of GPI-anchored proteins

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ANGIOEDEMA	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ANGIOEDEMA INDUCED BY ACE INHIBITORS, SUSCEPTIBILITY TO	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN FAILURE, PREMATURE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian failure	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Susceptibility to angioedema induced by ACE inhibitors	risk factor; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of colon	Adenocarcinoma Of Colon	BEFREE	31437676		★★★★★ ★☆☆☆☆ Found in Text Mining only
Angioedema	Angioedema	Pubtator	16175507, 20625347	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Angioedemas Hereditary	Angioedema	Pubtator	25401373	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	28670957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	28670957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	28670957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma	Renal Carcinoma	BEFREE	29245961		★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial lichen amyloidosis	Lichen amyloidosis	BEFREE	31296901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Gonadotropin-Resistant Ovary Syndrome	Gonadotropin-Resistant Ovary Syndrome	CTD_human_DG	25568306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemoglobin C Disease	Hemoglobin c disease	Pubtator	17522242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypergonadotropic Ovarian Failure, X-Linked	Premature ovarian failure	CTD_human_DG	25568306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypotension	Hypotension	Pubtator	23276181	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	31296901	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	31296901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	28670957		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28670957, 31296901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39595984	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Failure, Premature	Ovarian Failure	BEFREE	10894934		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Failure, Premature	Ovarian Failure	CTD_human_DG	25568306		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature Menopause	Premature Menopause	BEFREE	10894934		★★★★★ ★☆☆☆☆ Found in Text Mining only
Premature Ovarian Failure 1	Premature Ovarian Failure	CTD_human_DG	25568306		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	31296901		★★★★★ ★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	31296901	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renin-angiotensin-aldosterone system-blocker-induced angioedema	Renin-angiotensin-aldosterone system-blocker-induced angioedema	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only

XPNPEP2 (X-prolyl aminopeptidase 2)