GeneBe

ENPEP

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

Basic information

Region (hg38): 4:110365733-110565285

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.

  • not_specified (119 variants)
  • not_provided (5 variants)
  • Autism (1 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. These statistics are base on transcript: NM_000001977.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
2
clinvar
 2
missense
117
clinvar
2
clinvar
3
clinvar
 122
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 118 2 5
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ENPEPprotein_codingprotein_codingENST00000265162 20199553
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.39e-280.0009511236481420861257480.00839
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1165265191.010.00002846276
Missense in Polyphen202194.371.03932368
Synonymous-0.3832072001.030.00001261785
Loss of Function0.7074651.50.8940.00000247623

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.006200.00600
Ashkenazi Jewish0.004660.00467
East Asian0.0008190.000816
Finnish0.008270.00821
European (Non-Finnish)0.01420.0137
Middle Eastern0.0008190.000816
South Asian0.003470.00344
Other0.008710.00834

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Enpep
Phenotype

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