ACE2

angiotensin converting enzyme 2

Basic information

Region (hg38): X:15494565-15607236

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.

• Inborn genetic diseases (18 variants)
• not provided (11 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.

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				2	1	3
missense			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding			9	4	4	17
Total	0	0	16	7	5

Variants in ACE2

This is a list of pathogenic ClinVar variants found in the ACE2 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-15511457-T-A			Benign (Feb 08, 2018)
X-15516129-C-T		not specified	Uncertain significance (Aug 18, 2021)
X-15516168-G-T		not specified	Uncertain significance (Feb 12, 2024)
X-15516211-G-A		not specified	Uncertain significance (Dec 28, 2022)
X-15517947-C-T		not specified	Uncertain significance (Dec 17, 2023)
X-15517955-G-A		not specified	Uncertain significance (Feb 22, 2023)
X-15522377-A-G		not specified	Likely benign (Mar 01, 2023)
X-15522470-G-C		not specified	Likely benign (Nov 07, 2022)
X-15522475-G-A		not specified	Uncertain significance (Jan 16, 2024)
X-15522476-C-T			Benign (Dec 19, 2017)
X-15529992-T-G		not specified	Uncertain significance (May 24, 2023)
X-15537153-A-G			Likely benign (Jan 01, 2023)
X-15541995-C-G		not specified	Uncertain significance (Sep 01, 2021)
X-15542086-A-T		not specified	Uncertain significance (Feb 22, 2023)
X-15542189-C-T			Benign (Mar 29, 2018)
X-15542204-C-A			Likely benign (Apr 01, 2023)
X-15546837-G-A		not specified	Uncertain significance (Sep 15, 2021)
X-15546837-G-C		not specified	Uncertain significance (Dec 20, 2023)
X-15549831-G-C			Benign (May 18, 2018)
X-15549906-T-C		not specified	Uncertain significance (Mar 07, 2024)
X-15549941-C-T		not specified	Uncertain significance (Aug 19, 2023)
X-15549995-G-A		not specified	Uncertain significance (Nov 12, 2021)
X-15566297-A-G			Benign (Jul 30, 2018)
X-15567786-G-A		not specified	Uncertain significance (Sep 14, 2022)
X-15570351-C-A			Likely benign (-)

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
0.998	0.00231	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

Haploinsufficiency Scores

• pHI: 0.903
• hipred: Y
• hipred_score: 0.768

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

Mouse Genome Informatics

• Gene name: Ace2
• Phenotype: digestive/alimentary phenotype; renal/urinary system phenotype; immune system phenotype; respiratory system phenotype; pigmentation phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); 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); 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); growth/size/body region phenotype; muscle phenotype; cellular phenotype; homeostasis/metabolism phenotype

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