SPAAR (small regulatory polypeptide of amino acid response)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID 158376
Gene name Small regulatory polypeptide of amino acid response
Gene symbol SPAAR
Synonyms (NCBI Gene)
LINC00961SPAR
Chromosome 9
Chromosome location 9p13.3
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
14
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all (14)
GO ID Ontology Definition Evidence Reference
GO:0005764 Component Lysosome IEA
GO:0005765 Component Lysosomal membrane IDA 28024296
GO:0005765 Component Lysosomal membrane IEA
GO:0005768 Component Endosome IEA
GO:0016020 Component Membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
617627 27244 ENSG00000235387
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
A0A1B0GVQ0
Protein name Small regulatory polypeptide of amino acid response
Protein function [Isoform 2]: Negative regulator of amino acid sensing and mTORC1, a signaling complex promoting cell growth in response to growth factors, energy levels and amino acids (PubMed:28024296). Negatively regulates mTORC1 activation by inhibiting recr
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highly expressed in lung, heart and skeletal muscle. {ECO:0000269|PubMed:28024296}.
Sequence 
MGAKAPRGPKVAQWAMETAVIGVVVVLFVVTVAITCVLCCFSCDSRAQDPQGGPGRSFTV
ATFRQEASLFTGPVRHAQPVPSAQDFWTFM
Sequence length 90
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Gene Gene ontology Other IDs Protein Associated diseases
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)
Show/Hide Unknown Diseases (3)
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
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (24)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Arthritis Arthritis BEFREE 29875097
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 30010215, 30070327, 30825207
★★★★★
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Cardiovascular disease Pubtator 35656895 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 30367453
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Arteriosclerosis Coronary Arteriosclerosis BEFREE 31646586
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary Artery Disease Coronary artery disease BEFREE 31646586
★★★★★
★☆☆☆☆
Found in Text Mining only
Coronary heart disease Coronary Heart Disease BEFREE 31646586
★★★★★
★☆☆☆☆
Found in Text Mining only
Cutaneous Melanoma Melanoma BEFREE 31364744
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 30070327, 30825207
★★★★★
★☆☆☆☆
Found in Text Mining only
Glioma Glioma Pubtator 30070327 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only