Gene Gene information from NCBI Gene database.
Entrez ID 246744
Gene name Saitohin
Gene symbol STH
Synonyms (NCBI Gene)
MAPTIT
Chromosome 17
Chromosome location 17q21.31
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16186110, 32296183, 32814053
GO:0005634 Component Nucleus IDA 16186110
GO:0005634 Component Nucleus IEA
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 16186110
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607067 18839 ENSG00000256762
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IWL8
Protein name Saitohin
Family and domains
Tissue specificity TISSUE SPECIFICITY: Highest expression in placenta, muscle, fetal brain, and adult brain, with lower expression in heart, kidney, stomach, testis, and adrenal gland. In the central nervous system, highest expression is in temporal lobe, hypothalamus, medu
Sequence
MSEGGGQVSCIFAAPTRLCRWPALIECGVNLTQPLCEWMIQVARDRTLSLAWEVASLLTL
SSSEVGLEGVGTIWPSSYSSEESSRNGAEQGRQLSIEGPFQGQNCPSHPAAALPLPMRGE
SQATSCQV
Sequence length 128
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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
EBV-positive nodal T- and NK-cell lymphoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Alzheimer Disease Associate 12032355, 14707330, 25168738
★☆☆☆☆
Found in Text Mining only
Chromosome 17q21.31 Deletion Syndrome Associate 21094706
★☆☆☆☆
Found in Text Mining only
Cognitive Dysfunction Associate 22911757
★☆☆☆☆
Found in Text Mining only
Neurodegenerative Diseases Associate 12032355, 21769920, 25168738
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Associate 14966169, 18509094, 19912324, 25168738
★☆☆☆☆
Found in Text Mining only
Pick Disease of the Brain Stimulate 21769920
★☆☆☆☆
Found in Text Mining only
Supranuclear Palsy Progressive Associate 14707330
★☆☆☆☆
Found in Text Mining only