STH (saitohin)

Gene
Gene Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
246744
Gene name Gene Name - the full gene name approved by the HGNC.
Saitohin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STH
Synonyms (NCBI Gene) Gene synonyms aliases
MAPTIT
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17q21.31
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide all(5)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16186110, 32296183, 32814053
GO:0005634 Component Nucleus IDA 16186110
GO:0005737 Component Cytoplasm IDA 16186110
GO:0048026 Process Positive regulation of mRNA splicing, via spliceosome IGI 16186110
GO:0048471 Component Perinuclear region of cytoplasm IDA 16186110
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
607067 18839 ENSG00000256762
Protein
Gene Gene ontology Other IDs Protein Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Parkinson disease Parkinson Disease rs33939927, rs35801418, rs34805604, rs35870237, rs34995376, rs74315355, rs28940284, rs74315356, rs74315357, rs28940285, rs730880302, rs750664040, rs74315359, rs74315360, rs45539432
View all (84 more)		 22438815
Schizophrenia Schizophrenia rs13447324, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346
View all (12 more)		 22187337
Show/Hide Text Mining Associations (7)
Associations from Text Mining
Disease Name Relationship Type References
Alzheimer Disease Associate 12032355, 14707330, 25168738
Chromosome 17q21.31 Deletion Syndrome Associate 21094706
Cognitive Dysfunction Associate 22911757
Neurodegenerative Diseases Associate 12032355, 21769920, 25168738
Parkinson Disease Associate 14966169, 18509094, 19912324, 25168738
Pick Disease of the Brain Stimulate 21769920
Supranuclear Palsy Progressive Associate 14707330