GeneBe

ANPEP

alanyl aminopeptidase, membrane, the group of CD molecules|Aminopeptidases|M1 metallopeptidases

Basic information

Region (hg38): 15:89784895-89815401

Previous symbols: [ "CD13", "PEPN" ]

Links

ENSG00000166825 ∙ NCBI:290 ∙ OMIM:151530 ∙ HGNC:500 ∙ Uniprot:P15144 ∙ 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 ANPEP gene.

  • not_specified (114 variants)
  • not_provided (16 variants)
  • ANPEP-related_disorder (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANPEP gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001150.3. 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
6
clinvar
4
clinvar
 10
missense
106
clinvar
11
clinvar
 117
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 106 17 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANPEPprotein_codingprotein_codingENST00000300060 2030514
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
3.75e-91.001256660821257480.000326
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense1.434925900.8340.00003736362
Missense in Polyphen89146.680.606751612
Synonymous-1.432902611.110.00001881886
Loss of Function3.642351.10.4500.00000260533

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006980.000691
Ashkenazi Jewish0.0002020.000198
East Asian0.0002720.000272
Finnish0.0001390.000139
European (Non-Finnish)0.0004310.000431
Middle Eastern0.0002720.000272
South Asian0.0002300.000229
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: Broad specificity aminopeptidase which plays a role in the final digestion of peptides generated from hydrolysis of proteins by gastric and pancreatic proteases. Also involved in the processing of various peptides including peptide hormones, such as angiotensin III and IV, neuropeptides, and chemokines. May also be involved the cleavage of peptides bound to major histocompatibility complex class II molecules of antigen presenting cells. May have a role in angiogenesis and promote cholesterol crystallization. {ECO:0000269|PubMed:10605003, ECO:0000269|PubMed:10676659, ECO:0000269|PubMed:11384645, ECO:0000269|PubMed:12473585, ECO:0000269|PubMed:7576235, ECO:0000269|PubMed:8102610, ECO:0000269|PubMed:9056417}.; FUNCTION: (Microbial infection) Mediates as well Human cytomegalovirus (HCMV) infection. {ECO:0000269|PubMed:8105105}.;
Pathway
Renin-angiotensin system - Homo sapiens (human);Glutathione metabolism - Homo sapiens (human);Hematopoietic cell lineage - Homo sapiens (human);Gamma-glutamyl-transpeptidase deficiency;5-oxoprolinase deficiency;Gamma-Glutamyltransferase Deficiency;Glutathione Metabolism;Glutathione Synthetase Deficiency;5-Oxoprolinuria;Glutathione metabolism;miR-targeted genes in leukocytes - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;miR-targeted genes in squamous cell - TarBase;Cardiac Progenitor Differentiation;Neutrophil degranulation;Peptide hormone metabolism;Metabolism of proteins;Metabolism of Angiotensinogen to Angiotensins;glutathione-mediated detoxification;Innate Immune System;Immune System;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;C-MYB transcription factor network (Consensus)

Recessive Scores

pRec
0.857

Intolerance Scores

loftool
0.656
rvis_EVS
-0.98
rvis_percentile_EVS
8.65

Haploinsufficiency Scores

pHI
0.216
hipred
Y
hipred_score
0.524
ghis
0.480

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.850

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Anpep
Phenotype
endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; immune system phenotype; vision/eye phenotype;

Gene ontology

Biological process
angiogenesis;proteolysis;cell differentiation;peptide catabolic process;neutrophil degranulation;viral entry into host cell
Cellular component
extracellular space;cytoplasm;lysosomal membrane;endoplasmic reticulum-Golgi intermediate compartment;plasma membrane;external side of plasma membrane;integral component of membrane;secretory granule membrane;extracellular exosome
Molecular function
virus receptor activity;aminopeptidase activity;metallopeptidase activity;zinc ion binding;signaling receptor activity;peptide binding;metalloaminopeptidase activity