MAS1

Chr 6

MAS1 proto-oncogene, G protein-coupled receptor

Also known as: MAS, MGRA

NCBI Gene: 4142ENSG00000130368UniProt: P04201

This gene encodes a class I seven-transmembrane G-protein-coupled receptor. The encoded protein is a receptor for angiotensin-(1-7) and preferentially couples to the Gq protein, activating the phospholipase C signaling pathway. The encoded protein may play a role in multiple processes including hypotension, smooth muscle relaxation and cardioprotection by mediating the effects of angiotensin-(1-7). [provided by RefSeq, May 2012]

83
ClinVar variants
25
Pathogenic / LP
0.00
pLI score
1
Active trials
Clinical Summary— MAS1
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
25 Pathogenic / Likely Pathogenic· 57 VUS of 83 total submissions
💊
Clinical Trials
1 active or recruiting trial — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.47LOEUF
pLI 0.000
Z-score 0.58
OE 0.79 (0.45–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.03Z-score
OE missense 1.01 (0.89–1.14)
190 obs / 188.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.79 (0.45–1.47)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.01 (0.89–1.14)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.12
0≤1.21.6
LoF obs/exp: 7 / 8.9Missense obs/exp: 190 / 188.9Syn Z: -0.80

ClinVar Variant Classifications

83 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic24
Likely Pathogenic1
VUS57
Likely Benign1
24
Pathogenic
1
Likely Pathogenic
57
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
24
0
24
Likely Pathogenic
0
0
1
0
1
VUS
0
52
5
0
57
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total05330083

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

MAS1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
MAS1 ONCOGENE; MAS1
MIM #165180 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Hepatocyte-specific Mas activation enhances lipophagy and fatty acid oxidation to protect against acetaminophen-induced hepatotoxicity in mice.
Chen S et al.·J Hepatol
2023
Myeloid MAS-driven macrophage efferocytosis promotes resolution in ischemia-stressed mouse and human livers.
Chen S et al.·Sci Transl Med
2025Functional
Myeloid-Mas Signaling Modulates Pathogenic Crosstalk among MYC(+)CD63(+) Endothelial Cells, MMP12(+) Macrophages, and Monocytes in Acetaminophen-Induced Liver Injury.
Chen S et al.·Adv Sci (Weinh)
2024
Asthma: role of the angiotensin-(1-7)/Mas (MAS1) pathway in pathophysiology and therapy.
Gregório JF et al.·Br J Pharmacol
2021Review
Significance of angiotensin 1-7 coupling with MAS1 receptor and other GPCRs to the renin-angiotensin system: IUPHAR Review 22.
Karnik SS et al.·Br J Pharmacol
2017Review
Targeting the renin-angiotensin signaling pathway in COVID-19: Unanswered questions, opportunities, and challenges.
Sriram K et al.·Proc Natl Acad Sci U S A
2020Review
Autoantibody signature in hepatocellular carcinoma using seromics.
Zhang S et al.·J Hematol Oncol
2020
Comprehensive landscape of the renin-angiotensin system in Pan-cancer: a potential downstream mediated mechanism of SARS-CoV-2.
Cui Y et al.·Int J Biol Sci
2021Functional
Modulation of RAAS receptors and miRNAs in COVID-19: implications for disease severity, immune response, and potential therapeutic targets.
Barreto Fernandes TF et al.·BMC Infect Dis
2025
A Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment.
Mariam A et al.·Diabetes Care
2021
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
An Optimized Chickpea Protein Hydrolysate Exerts Long-Term Antihypertensive Effects and Upregulates ACE2 and Mas1 Gene Expression in Spontaneously Hypertensive Rats.
Figueroa-Salcido OG et al.·Foods
2025🔓 Open Access
Identification and structural analysis of a surface layer protein from Geobacillus thermopakistaniensis MAS1: highlighting its larvicidal potential against Culex quinquefasciatus, Anopheles stephensi and Aedes aegypti.
Arshad H et al.·Int J Biol Macromol
2025
Mas1 Receptor Activation is Necessary and Sufficient to Transduce ACE2 Effect in PAH, But Ang(1-7) Alone is Insufficient.
West J et al.·Pulm Circ
2025🔓 Open Access
Overexpression of the Mas1 gene mitigated LPS-induced inflammatory injury in mammary epithelial cells by inhibiting the NF-κB/MAPKs signaling pathways.
Yan S et al.·Front Vet Sci
2024🔓 Open Access
[Expression of Mas1 receptor in human placenta and its effect on the function of trophoblast cells in pre-eclampsia patients].
Cui TY et al.·Zhonghua Yu Fang Yi Xue Za Zhi
2023Cohort
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Transthyretin AmyloidosisATTR-CMATTRv-PN

Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis

RECRUITING
NCT06465810AstraZenecaStarted 2024-06-25
Treatment of transthyretin (ATTR) amyloidosis in observational study setting

External Resources

Links to major genomics databases and tools