Gene Gene information from NCBI Gene database.
Entrez ID 4142
Gene name MAS1 proto-oncogene, G protein-coupled receptor
Gene symbol MAS1
Synonyms (NCBI Gene)
MASMGRA
Chromosome 6
Chromosome location 6q25.3
Summary 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 pla
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0001595 Function Angiotensin receptor activity IBA
GO:0001595 Function Angiotensin receptor activity IEA
GO:0001595 Function Angiotensin receptor activity ISS
GO:0002033 Process Angiotensin-mediated vasodilation involved in regulation of systemic arterial blood pressure IEA
GO:0004930 Function G protein-coupled receptor activity IDA 16611642
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
165180 6899 ENSG00000130368
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04201
Protein name Proto-oncogene Mas
Protein function Receptor for angiotensin 1-7 (By similarity). Acts specifically as a functional antagonist of AGTR1 (angiotensin-2 type 1 receptor), although it up-regulates AGTR1 receptor levels. Positive regulation of AGTR1 levels occurs through activation of
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00001 7tm_1 49 280 7 transmembrane receptor (rhodopsin family) Family
Sequence
Sequence length 325
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Neuroactive ligand-receptor interaction
Renin-angiotensin system
Coronavirus disease - COVID-19
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
MYOCARDIAL INFARCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
THROMBOSIS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations