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Aliases for STH Gene

Aliases for STH Gene

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

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 Koolen-De Vries Syndrome and Dysbaric Osteonecrosis.

Gene Wiki entry for STH Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for STH Gene

Genomics for STH Gene

Regulatory Elements for STH Gene

Enhancers for STH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17G046018 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.2 +20.9 20919 3.7 HDGF PKNOX1 ARID4B SIN3A DMAP1 YY1 SLC30A9 ZNF766 ZNF263 SP3 LINC02210 KANSL1 KANSL1-AS1 NSFP1 STH LRRC37A GC17P046010 GC17P046011 ENSG00000262372
GH17G046056 1.5 Ensembl ENCODE dbSUPER 11 +58.1 58067 2.3 MLX ZFP64 SIN3A ARID4B DMAP1 ZNF48 SLC30A9 GATA2 FOS SP5 LINC02210 KANSL1-AS1 KANSL1 STH NSFP1 PIR51062
GH17G045976 1.3 ENCODE dbSUPER 12.5 -21.8 -21780 2.1 HDGF PKNOX1 ATF1 CREB3L1 ARNT TCF12 ZNF766 ELK1 GATA2 FOS LINC02210 LRRC37A4P STH MAPT ARL17B GC17P045976
GH17G045941 1.2 FANTOM5 ENCODE dbSUPER 13.4 -57.0 -56980 0.9 MAX RAD21 FOXA1 NR2F2 YY1 JUND ATF3 ZNF366 SMARCA4 SCRT2 LINC02210 MAPT STH CRHR1 LOC105371800 GC17P045970
GH17G046024 1.3 Ensembl ENCODE dbSUPER 12 +27.1 27089 3.6 ARID4B ZNF48 RAD21 SCRT2 FOS PAF1 KAT8 NFIC SMARCA4 CEBPA LINC02210 LRRC37A4P LRRC37A2 NSFP1 LRRC37A STH KANSL1-AS1 ENSG00000262372 GC17P046010 GC17P046011
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around STH on UCSC Golden Path with GeneCards custom track

Genomic Location for STH Gene

Chromosome:
17
Start:
45,999,250 bp from pter
End:
45,999,694 bp from pter
Size:
445 bases
Orientation:
Plus strand

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

Protein Domains for STH Gene

ProtoNet:

Suggested Antigen Peptide Sequences for STH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with STH: view

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

Function for STH Gene

Phenotypes for STH Gene

GenomeRNAi human phenotypes for STH:
genes like me logo Genes that share phenotypes with STH: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for STH

No data available for Molecular function , Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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 4
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with STH: view

Pathways & Interactions for STH Gene

No Data Available

Interacting Proteins for STH Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000443168%0d%0a9606.ENSP00000342026%0d%0a
Selected Interacting proteins: ENSP00000443168 for STH Gene via STRING

Symbol External ID(s) Details
PRDX6

Gene Ontology (GO) - Biological Process for STH Gene

None

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 85
Ivermectin Approved, Vet_approved Pharma NAChR/purinergic P2X4 receptor modulator 61
Ergocalciferol Approved Nutra 1281
Anthelmintics Pharma 446
Anti-Infective Agents Pharma 22062
genes like me logo Genes that share compounds with STH: view

Transcripts for STH Gene

mRNA/cDNA for STH Gene

(1) REFSEQ mRNAs :
(3) Additional mRNA sequences :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for STH Gene

Saitohin:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
STH

Expression for STH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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).

NURSA nuclear receptor signaling pathways regulating expression of STH Gene:

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.

Evidence on tissue expression from TISSUES for STH Gene

  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with STH: view

Primer Products

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 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 34
  • 98.7 (n)
Species where no ortholog for STH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 squirt (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)

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 from dbSNP and Humsavar for STH Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000324078 -- 45,997,405(+) TGCAC(C/T)GCTGC intron-variant, upstream-variant-2KB
rs1000350750 -- 45,997,267(+) CCCCT(C/G/T)GTCTG intron-variant, upstream-variant-2KB
rs1004182014 -- 45,997,495(+) TGGCT(A/C)ACGCC intron-variant, upstream-variant-2KB
rs1004585185 -- 45,997,849(+) AAAGG(C/T)CCTGT intron-variant, upstream-variant-2KB
rs1011296978 -- 46,000,159(+) ATGCT(A/T)ACACC intron-variant, downstream-variant-500B

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)

Relevant External Links for STH Gene

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

Disorders for STH Gene

MalaCards: The human disease database

(9) MalaCards diseases for STH Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
koolen-de vries syndrome
  • koolen de vries syndrome
dysbaric osteonecrosis
  • caisson disease of bone
hymenolepiasis
  • dwarf tapeworm infection
trichuriasis
  • infection by trichuris trichura
dementia, frontotemporal
  • dementia, frontotemporal, with or without parkinsonism
- elite association - COSMIC cancer census association via MalaCards
Search STH in MalaCards View complete list of genes associated with diseases

Relevant External Links for STH

Genetic Association Database (GAD)
STH
Human Genome Epidemiology (HuGE) Navigator
STH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
STH
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. HD phenocopies--possible role of Saitohin gene. (PMID: 18300012) JankoviA8 N. … Romac S. (Int. J. Neurosci. 2008) 3 22 46 64
  2. 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. (J. Neurol. Sci. 2008) 3 22 46 64
  3. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. (PMID: 18509094) Tobin J.E. … Myers R.H. (Neurology 2008) 3 22 46 64
  4. The Q7R polymorphism in the saitohin gene is rare in a southern Chinese population. (PMID: 18850062) Lin K. … Ma C. (Neurol. Sci. 2008) 3 22 46 64
  5. Variation at APOE and STH loci and Alzheimer's disease. (PMID: 16603077) Zuo L. … Gelernter J. (Behav Brain Funct 2006) 3 22 46 64

Products for STH Gene

Sources for STH Gene

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