Gene Gene information from NCBI Gene database.
Entrez ID 83667
Gene name Sestrin 2
Gene symbol SESN2
Synonyms (NCBI Gene)
HI95SES2SEST2
Chromosome 1
Chromosome location 1p35.3
Summary This gene encodes a member of the sestrin family of PA26-related proteins. The encoded protein may function in the regulation of cell growth and survival. This protein may be involved in cellular response to different stress conditions. [provided by RefSe
miRNA miRNA information provided by mirtarbase database.
760
miRTarBase ID miRNA Experiments Reference
MIRT016428 hsa-miR-193b-3p Microarray 20304954
MIRT017581 hsa-miR-335-5p Microarray 18185580
MIRT052416 hsa-let-7a-5p CLASH 23622248
MIRT041989 hsa-miR-484 CLASH 23622248
MIRT067319 hsa-miR-23a-3p PAR-CLIP 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
79
GO ID Ontology Definition Evidence Reference
GO:0001932 Process Regulation of protein phosphorylation IDA 25040165
GO:0004601 Function Peroxidase activity IDA 26612684
GO:0005092 Function GDP-dissociation inhibitor activity IEA
GO:0005515 Function Protein binding IPI 15105503, 18692468, 23274085, 25040165, 25263562, 26449471, 26586190, 26972053, 28199315, 29294217
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607767 20746 ENSG00000130766
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P58004
Protein name Sestrin-2 (EC 1.11.1.-) (Hypoxia-induced gene)
Protein function Functions as an intracellular leucine sensor that negatively regulates the mTORC1 signaling pathway through the GATOR complex (PubMed:18692468, PubMed:25263562, PubMed:25457612, PubMed:26449471, PubMed:26586190, PubMed:26612684, PubMed:31586034,
PDB 5CUF , 5DJ4 , 5T0N , 6N0M
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04636 PA26 43 479 PA26 p53-induced protein (sestrin) Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. {ECO:0000269|PubMed:12607115}.
Sequence
Sequence length 480
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  p53 signaling pathway
mTOR signaling pathway
Longevity regulating pathway
  TP53 Regulates Metabolic Genes
Amino acids regulate mTORC1
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
COLORECTAL NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
GOUT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HEPATOMEGALY CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 27250766, 28618937
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 21181094
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28425969
★☆☆☆☆
Found in Text Mining only
Agenesis of corpus callosum Agenesis Of Corpus Callosum BEFREE 26323347
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 22450766 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 28468914
★☆☆☆☆
Found in Text Mining only
Aortic Diseases Aortic disease Pubtator 35881902 Associate
★☆☆☆☆
Found in Text Mining only
Aplasia Cutis Congenita Aplasia Cutis Congenita BEFREE 26323347
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 28215577, 31252000
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma BEFREE 30569180
★☆☆☆☆
Found in Text Mining only