ENPEP

glutamyl aminopeptidase, the group of CD molecules|Aminopeptidases|M1 metallopeptidases

Basic information

Region (hg38): 4:110365732-110565285

Links

ENSG00000138792 ∙ NCBI:2028 ∙ OMIM:138297 ∙ HGNC:3355 ∙ Uniprot:Q07075 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ENPEP gene.

• Inborn genetic diseases (35 variants)
• not provided (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ENPEP gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			33	2	3	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	33	2	4

Variants in ENPEP

This is a list of pathogenic ClinVar variants found in the ENPEP region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-110476451-T-G		not specified	Uncertain significance (Jan 30, 2024)
4-110476503-G-A		not specified	Uncertain significance (Aug 15, 2023)
4-110476508-A-G			Benign (Mar 05, 2018)
4-110476517-C-T		not specified	Uncertain significance (Jan 23, 2024)
4-110476522-C-T			Benign (Mar 05, 2018)
4-110476554-G-A		not specified	Uncertain significance (Oct 13, 2023)
4-110476628-G-A		not specified	Uncertain significance (Apr 05, 2023)
4-110476697-G-T		not specified	Uncertain significance (Jan 04, 2022)
4-110476832-A-G		not specified	Uncertain significance (Jan 31, 2024)
4-110476841-C-T		not specified	Uncertain significance (Nov 08, 2021)
4-110476909-G-C		not specified	Uncertain significance (Oct 26, 2021)
4-110476919-G-A		not specified	Uncertain significance (Jan 04, 2022)
4-110476983-T-C		not specified	Uncertain significance (Mar 04, 2024)
4-110477010-C-T		not specified	Uncertain significance (Jan 25, 2023)
4-110477054-G-A		not specified	Likely benign (Sep 13, 2023)
4-110488594-G-C		not specified	Uncertain significance (Oct 27, 2022)
4-110488617-G-T		not specified	Uncertain significance (Apr 12, 2023)
4-110488621-C-T		not specified	Uncertain significance (Aug 17, 2022)
4-110488669-A-G		not specified	Uncertain significance (Feb 26, 2024)
4-110488681-C-T		not specified	Uncertain significance (Nov 22, 2023)
4-110491097-C-T		not specified	Uncertain significance (Nov 08, 2022)
4-110491117-G-C		not specified	Uncertain significance (Jul 12, 2022)
4-110506666-G-T		not specified	Uncertain significance (Aug 30, 2022)
4-110506676-G-A		not specified	Uncertain significance (Oct 03, 2022)
4-110506731-C-T		not specified	Uncertain significance (Feb 28, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ENPEP	protein_coding	protein_coding	ENST00000265162	20	199553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.39e-28	0.000951	123648	14	2086	125748	0.00839

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.116	526	519	1.01	0.0000284	6276
Missense in Polyphen		202	194.37	1.0393		2368
Synonymous	-0.383	207	200	1.03	0.0000126	1785
Loss of Function	0.707	46	51.5	0.894	0.00000247	623

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00620	0.00600
Ashkenazi Jewish	0.00466	0.00467
East Asian	0.000819	0.000816
Finnish	0.00827	0.00821
European (Non-Finnish)	0.0142	0.0137
Middle Eastern	0.000819	0.000816
South Asian	0.00347	0.00344
Other	0.00871	0.00834

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Regulates central hypertension through its calcium- modulated preference to cleave N-terminal acidic residues from peptides such as angiotensin II. {ECO:0000305|PubMed:23888046}.
• Pathway: Renin-angiotensin system - Homo sapiens (human);Peptide hormone metabolism;Metabolism of proteins;Metabolism of Angiotensinogen to Angiotensins (Consensus)

Recessive Scores

• pRec: 0.479

Intolerance Scores

• loftool: 0.979
• rvis_EVS: 0.39
• rvis_percentile_EVS: 75.68

Haploinsufficiency Scores

• pHI: 0.219
• hipred: N
• hipred_score: 0.350
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.286

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Enpep

Gene ontology

• Biological process: angiogenesis;angiotensin maturation;regulation of systemic arterial blood pressure by renin-angiotensin;proteolysis;cell-cell signaling;cell population proliferation;cell migration;glomerulus development;peptide catabolic process
• Cellular component: cytoplasm;lysosomal membrane;plasma membrane;integral component of plasma membrane;brush border;external side of plasma membrane;apical plasma membrane;cytoplasmic vesicle;apical part of cell;extracellular exosome
• Molecular function: aminopeptidase activity;metallopeptidase activity;zinc ion binding;peptide binding;metalloaminopeptidase activity