Aliases for STH Gene

Aliases for STH Gene

  • Saitohin 2 3 4 5
  • Microtubule-Associated Protein Tau (MAPT) Intronic Transcript 2 3
  • MAPTIT 2 3
  • STH 5

External Ids for STH Gene

Previous GeneCards Identifiers for STH Gene

  • GC17U990336
  • GC17P041432
  • GC17P044076

Summaries for STH Gene

GeneCards Summary for STH Gene

STH (Saitohin) is a Protein Coding gene. Diseases associated with STH include Frontotemporal Dementia and Chromosome 17Q21.31 Duplication Syndrome.

Gene Wiki entry for STH Gene

No data available for Entrez Gene Summary , CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STH Gene

Genomics for STH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for STH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STH

Top Transcription factor binding sites by QIAGEN in the STH gene promoter:
  • HOXA9
  • Meis-1b
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3
  • NF-AT4
  • Pax-4a
  • SRF
  • SRF (504 AA)

Genomic Locations for STH Gene

Latest Assembly
chr17:45,999,250-45,999,694
(GRCh38/hg38)
Size:
445 bases
Orientation:
Plus strand

Previous Assembly
chr17:44,076,616-44,077,060
(GRCh37/hg19 by Entrez Gene)
Size:
445 bases
Orientation:
Plus strand

chr17:44,076,616-44,077,060
(GRCh37/hg19 by Ensembl)
Size:
445 bases
Orientation:
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr17(ALT_REF_LOCI_1):788,696-789,140 (-)
  • chr17(ALT_REF_LOCI_2):701,369-701,813 (+)

Genomic View for STH Gene

Genes around STH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STH Gene

Proteins for STH Gene

  • Protein details for STH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8IWL8-STH_HUMAN
    Recommended name:
    Saitohin
    Protein Accession:
    Q8IWL8
    Secondary Accessions:
    • A1L3X7

    Protein attributes for STH Gene

    Size:
    128 amino acids
    Molecular mass:
    13652 Da
    Quaternary structure:
    • Interacts with PRDX6.
    Miscellaneous:
    • Was called 'saitohin' in honor of the late Tsuanao Saitoh and his laboratory.

neXtProt entry for STH Gene

Post-translational modifications for STH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for STH Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for STH Gene

Domains & Families for STH Gene

Gene Families for STH Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for STH Gene

GenScript: Design optimal peptide antigens:
  • Saitohin (STH_HUMAN)
genes like me logo Genes that share domains with STH: view

No data available for Protein Domains , Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STH Gene

Function for STH Gene

Phenotypes From GWAS Catalog for STH Gene

Gene Ontology (GO) - Molecular Function for STH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16186110
genes like me logo Genes that share ontologies with STH: view
genes like me logo Genes that share phenotypes with STH: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STH

No data available for Molecular function , Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for STH Gene

Localization for STH Gene

Subcellular locations from UniProtKB/Swiss-Prot for STH Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for STH gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for STH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 16186110
GO:0005737 cytoplasm IEA,IDA 16186110
GO:0048471 perinuclear region of cytoplasm IDA 16186110
genes like me logo Genes that share ontologies with STH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STH Gene

Pathways & Interactions for STH Gene

PathCards logo

SuperPathways for STH Gene

No Data Available

Gene Ontology (GO) - Biological Process for STH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0048026 positive regulation of mRNA splicing, via spliceosome IGI 16186110
genes like me logo Genes that share ontologies with STH: view

No data available for Pathways by source and SIGNOR curated interactions for STH Gene

Drugs & Compounds for STH Gene

(17) Drugs for STH Gene - From: ClinicalTrials

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Albendazole Approved, Vet_approved Pharma 116
Ivermectin Approved, Investigational, Vet_approved Pharma NAChR/purinergic P2X4 receptor modulator 163
Vitamin D Approved, Vet_approved Nutra 2313
Anthelmintics Pharma 521
Anti-Infective Agents Pharma 23293
genes like me logo Genes that share compounds with STH: view

Transcripts for STH Gene

mRNA/cDNA for STH Gene

1 REFSEQ mRNAs :
3 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STH

Alternative Splicing Database (ASD) splice patterns (SP) for STH Gene

No ASD Table

Relevant External Links for STH Gene

GeneLoc Exon Structure for
STH

Expression for STH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STH Gene

mRNA differential expression in normal tissues according to GTEx for STH Gene

This gene is overexpressed in Brain - Cerebellum (x8.3) and Brain - Cerebellar Hemisphere (x8.2).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STH

SOURCE GeneReport for Unigene cluster for STH Gene:

Hs.661831

mRNA Expression by UniProt/SwissProt for STH Gene:

Q8IWL8-STH_HUMAN
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, medulla and spinal cord, with lower expression in other brain regions.
genes like me logo Genes that share expression patterns with STH: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for STH Gene

Orthologs for STH Gene

This gene was present in the common ancestor of human and chimp.

Orthologs for STH Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia STH 29
  • 98.7 (n)
Species where no ortholog for STH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • Cow (Bos Taurus)
  • Dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for STH Gene

ENSEMBL:
Gene Tree for STH (if available)
TreeFam:
Gene Tree for STH (if available)
Alliance of Genome Resources:
Additional Orthologs for STH

Paralogs for STH Gene

No data available for Paralogs for STH Gene

Variants for STH Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for STH Gene

STH_HUMAN-Q8IWL8
The Arg-7 polymorphism may be associated with progressive supranuclear palsy.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STH Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs62063857 -- p.Gln7Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for STH Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for STH Gene

Variant ID Type Subtype PubMed ID
dgv127e55 CNV gain 17911159
dgv3178n100 CNV gain 25217958
esv2751686 CNV gain 17911159
esv2762433 CNV gain+loss 21179565
nsv1072740 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv2068 CNV insertion 18451855
nsv469705 CNV loss 16826518
nsv510714 CNV deletion 20534489

Variation tolerance for STH Gene

Residual Variation Intolerance Score: 83.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.51; 29.28% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STH Gene

Human Gene Mutation Database (HGMD)
STH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
STH
Leiden Open Variation Database (LOVD)
STH

SNP Genotyping and Copy Number Assays for research

Disorders for STH Gene

MalaCards: The human disease database

(12) MalaCards diseases for STH Gene - From: COP and GCD

- elite association - COSMIC cancer census association via MalaCards
Search STH in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STH

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with STH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STH Gene

Publications for STH Gene

  1. The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population. (PMID: 18850062) Lin K … Ma C (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2008) 3 22 40
  2. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. (PMID: 18509094) Tobin JE … Myers RH (Neurology 2008) 3 22 40
  3. Genetic analysis of tumor necrosis factor-alpha (TNF-alpha) G-308A and Saitohin Q7R polymorphisms with Alzheimer's disease. (PMID: 18396294) Wang B … Ma X (Journal of the neurological sciences 2008) 3 22 40
  4. HD phenocopies--possible role of Saitohin gene. (PMID: 18300012) Janković N … Romac S (The International journal of neuroscience 2008) 3 22 40
  5. Variation at APOE and STH loci and Alzheimer's disease. (PMID: 16603077) Zuo L … Gelernter J (Behavioral and brain functions : BBF 2006) 3 22 40

Products for STH Gene

Sources for STH Gene