ACE2

angiotensin converting enzyme 2

Basic information

Region (hg38): X:15494566-15607236

Links

ENSG00000130234 ∙ NCBI:59272 ∙ OMIM:300335 ∙ HGNC:13557 ∙ Uniprot:Q9BYF1 ∙ 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 ACE2 gene.

• not_specified (15 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ACE2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001371415.1. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			19	2	1	22
missense			76	2		78
nonsense			14			14
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			21			21
Total	0	0	130	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ACE2	protein_coding	protein_coding	ENST00000427411	18	41116

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125627	2	6	125635	0.0000318

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.25	223	282	0.791	0.0000198	5358
Missense in Polyphen		72	101.38	0.71019		1960
Synonymous	1.33	84	101	0.832	0.00000736	1445
Loss of Function	4.66	3	31.0	0.0968	0.00000225	532

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000163	0.0000992
East Asian	0.000160	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000521	0.0000352
Middle Eastern	0.000160	0.000109
South Asian	0.0000654	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Carboxypeptidase which converts angiotensin I to angiotensin 1-9, a peptide of unknown function, and angiotensin II to angiotensin 1-7, a vasodilator. Also able to hydrolyze apelin- 13 and dynorphin-13 with high efficiency. May be an important regulator of heart function. {ECO:0000269|PubMed:10924499, ECO:0000269|PubMed:10969042, ECO:0000269|PubMed:14647384, ECO:0000269|PubMed:24227843}.; FUNCTION: (Microbial infection) Acts as a receptor for Human coronavirus NL63/HCoV-NL63. {ECO:0000269|PubMed:15897467}.
• Pathway: Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics;Renin-angiotensin system - Homo sapiens (human);Protein digestion and absorption - Homo sapiens (human);ACE Inhibitor Pathway, Pharmacodynamics;ACE Inhibitor Pathway;Peptide hormone metabolism;Metabolism of proteins;Metabolism of Angiotensinogen to Angiotensins (Consensus)

Recessive Scores

• pRec: 0.284

Intolerance Scores

• loftool: 0.0718
• rvis_EVS: 0.89
• rvis_percentile_EVS: 89.14

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0433

Gene Damage Prediction

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

Gene ontology

• Biological process: regulation of cytokine production;angiotensin maturation;angiotensin-mediated drinking behavior;regulation of systemic arterial blood pressure by renin-angiotensin;tryptophan transport;regulation of vasoconstriction;receptor biosynthetic process;regulation of cell population proliferation;viral entry into host cell;receptor-mediated virion attachment to host cell;regulation of inflammatory response;positive regulation of amino acid transport;positive regulation of cardiac muscle contraction;regulation of blood vessel diameter;positive regulation of gap junction assembly;regulation of cardiac conduction;positive regulation of reactive oxygen species metabolic process
• Cellular component: extracellular region;extracellular space;cytoplasm;plasma membrane;cell surface;integral component of membrane;brush border membrane;membrane raft;extracellular exosome
• Molecular function: virus receptor activity;endopeptidase activity;carboxypeptidase activity;metallocarboxypeptidase activity;protein binding;metallopeptidase activity;exopeptidase activity;peptidyl-dipeptidase activity;zinc ion binding