Gene Gene information from NCBI Gene database.
Entrez ID 11037
Gene name Stonin 1
Gene symbol STON1
Synonyms (NCBI Gene)
SALFSBLFSTN1STNB1
Chromosome 2
Chromosome location 2p16.3
Summary Endocytosis of cell surface proteins is mediated by a complex molecular machinery that assembles on the inner surface of the plasma membrane. This gene encodes one of two human homologs of the Drosophila melanogaster stoned B protein. This protein is rela
miRNA miRNA information provided by mirtarbase database.
232
miRTarBase ID miRNA Experiments Reference
MIRT1399042 hsa-miR-1260 CLIP-seq
MIRT1399043 hsa-miR-1260b CLIP-seq
MIRT1399044 hsa-miR-1285 CLIP-seq
MIRT1399045 hsa-miR-1827 CLIP-seq
MIRT1399046 hsa-miR-188-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005905 Component Clathrin-coated pit IEA
GO:0006897 Process Endocytosis IEA
GO:0006897 Process Endocytosis IEA
GO:0006929 Process Substrate-dependent cell migration IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
605357 17003 ENSG00000243244
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Cargo recognition for clathrin-mediated endocytosis
Clathrin-mediated endocytosis
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
Myoepithelial tumor Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
POST-OPERATIVE ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SPORADIC AMYOTROPHIC LATERAL SCLEROSIS GWAS catalog
★★☆☆☆
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
Acute leukemia Leukemia BEFREE 17135274
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy BEFREE 28274107
★☆☆☆☆
Found in Text Mining only
Blood Coagulation Disorders Blood Coagulation Disorders BEFREE 29194678
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 36759775 Inhibit
★☆☆☆☆
Found in Text Mining only
Encephalopathies Epileptic encephalopathy BEFREE 30368998
★☆☆☆☆
Found in Text Mining only
Epilepsy Epilepsy BEFREE 29685768
★☆☆☆☆
Found in Text Mining only
Esophageal Varices Esophageal varix BEFREE 30368998
★☆☆☆☆
Found in Text Mining only
FRAXE Syndrome Fragile X syndrome BEFREE 17135274
★☆☆☆☆
Found in Text Mining only
Fulminant hepatitis Fulminant Hepatitis BEFREE 28736976
★☆☆☆☆
Found in Text Mining only
Hepatolenticular Degeneration Hepatolenticular Degeneration BEFREE 30359967, 30368998
★☆☆☆☆
Found in Text Mining only