ANPEP

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

Basic information

Region (hg38): 15:89784894-89815401

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.

• Inborn genetic diseases (38 variants)
• not provided (19 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.

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				5	7	12
missense			36	4	1	41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding					3	3
Total	0	0	36	9	11

Variants in ANPEP

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

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

Position	Type	Phenotype	Significance	ClinVar
15-89785445-G-A			Likely benign (Jun 08, 2018)
15-89785446-G-C		not specified	Uncertain significance (Jan 09, 2024)
15-89785452-G-T		not specified	Uncertain significance (Feb 10, 2022)
15-89785462-C-T		not specified	Uncertain significance (Feb 14, 2023)
15-89790954-C-A		not specified	Uncertain significance (Jan 17, 2024)
15-89790984-C-G		not specified	Uncertain significance (Jan 16, 2024)
15-89791010-A-G		not specified	Uncertain significance (Jul 27, 2022)
15-89792233-C-T		not specified	Uncertain significance (Nov 17, 2022)
15-89792255-G-A			Benign (Dec 31, 2019)
15-89792492-C-T		not specified	Uncertain significance (Dec 03, 2021)
15-89792502-C-G		not specified	Uncertain significance (Nov 03, 2022)
15-89792502-C-T			Benign (Jun 06, 2018)
15-89792555-C-T		not specified	Uncertain significance (Jan 11, 2023)
15-89793090-G-T		not specified	Uncertain significance (Oct 30, 2023)
15-89797640-C-T		not specified	Uncertain significance (Aug 23, 2021)
15-89797719-G-C			Benign (Dec 31, 2019)
15-89799285-T-C		not specified	Uncertain significance (Jul 20, 2022)
15-89799473-C-T		not specified	Uncertain significance (Sep 20, 2023)
15-89799480-G-C		not specified	Uncertain significance (Jun 01, 2023)
15-89799499-G-A		not specified	Uncertain significance (Apr 19, 2023)
15-89799521-C-G		ANPEP-related disorder	Likely benign (Dec 02, 2022)
15-89799540-G-A			Benign (Dec 31, 2019)
15-89801158-A-T		not specified	Uncertain significance (Nov 06, 2023)
15-89801469-G-C		not specified	Uncertain significance (Jan 23, 2024)
15-89801528-G-A		not specified	Uncertain significance (Jan 31, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANPEP	protein_coding	protein_coding	ENST00000300060	20	30514

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.75e-9	1.00	125666	0	82	125748	0.000326

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.43	492	590	0.834	0.0000373	6362
Missense in Polyphen		89	146.68	0.60675		1612
Synonymous	-1.43	290	261	1.11	0.0000188	1886
Loss of Function	3.64	23	51.1	0.450	0.00000260	533

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000698	0.000691
Ashkenazi Jewish	0.000202	0.000198
East Asian	0.000272	0.000272
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000431	0.000431
Middle Eastern	0.000272	0.000272
South Asian	0.000230	0.000229
Other	0.00	0.00

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

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

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