STOX1 (storkhead box 1)

Gene

• Entrez ID: 219736
• Gene name: Storkhead box 1
• Gene symbol: STOX1
• Synonyms (NCBI Gene): C10orf24
• Chromosome: 10
• Chromosome location: 10q22.1
• Summary: The protein encoded by this gene may function as a DNA binding protein. Mutations in this gene are associated with pre-eclampsia/eclampsia 4 (PEE4). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [prov

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1341667	T>A,C,G	Risk-factor	Coding sequence variant, missense variant
rs10509305	A>C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017203	hsa-miR-335-5p	Microarray	18185580
MIRT733171	hsa-miR-365a-3p	Microarray, qRT-PCR	32743775
MIRT1399110	hsa-miR-1272	CLIP-seq
MIRT1399111	hsa-miR-1322	CLIP-seq
MIRT1399112	hsa-miR-3152-3p	CLIP-seq
MIRT1399113	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	22253775
GO:0001650	Component	Fibrillar center	IDA
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	NAS	34673265
GO:0005515	Function	Protein binding	IPI	25416956, 31515488, 32296183
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	22253775
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005730	Component	Nucleolus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IDA	22253775
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IDA	22253775
GO:0005813	Component	Centrosome	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005938	Component	Cell cortex	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IMP	24738702
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	34673265
GO:0007346	Process	Regulation of mitotic cell cycle	IEA
GO:0010468	Process	Regulation of gene expression	IMP	24738702
GO:0010628	Process	Positive regulation of gene expression	IMP	22253775
GO:0010629	Process	Negative regulation of gene expression	IMP	22253775
GO:0010800	Process	Positive regulation of peptidyl-threonine phosphorylation	IMP	22995177
GO:0010821	Process	Regulation of mitochondrion organization	IMP	24738702
GO:0010971	Process	Positive regulation of G2/M transition of mitotic cell cycle	IMP	22253775
GO:0033138	Process	Positive regulation of peptidyl-serine phosphorylation	IMP	22995177
GO:0045787	Process	Positive regulation of cell cycle	IEA
GO:0048839	Process	Inner ear development	IEA
GO:0051301	Process	Cell division	IEA
GO:0051881	Process	Regulation of mitochondrial membrane potential	IMP	24738702
GO:0051897	Process	Positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IEA
GO:0071500	Process	Cellular response to nitrosative stress	IMP	24738702
GO:1900087	Process	Positive regulation of G1/S transition of mitotic cell cycle	IMP	22253775
GO:1901858	Process	Regulation of mitochondrial DNA metabolic process	IMP	24738702
GO:1902882	Process	Regulation of response to oxidative stress	IMP	24738702
GO:1904031	Process	Positive regulation of cyclin-dependent protein kinase activity	IMP	22253775, 22995177
GO:1904120	Process	Positive regulation of otic vesicle morphogenesis	IEA

Other IDs

• MIM: 609397
• HGNC: 23508
• e!Ensembl: ENSG00000165730

Protein

• UniProt ID: Q6ZVD7
• Protein name: Storkhead-box protein 1 (Winged-helix domain-containing protein)
• Protein function: Involved in regulating the levels of reactive oxidative species and reactive nitrogen species and in mitochondrial homeostasis in the placenta (PubMed:24738702). Required for regulation of inner ear epithelial cell proliferation via the AKT sign
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10264	Stork_head	111 → 189	Winged helix Storkhead-box1 domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in placenta, including the invasive extravillus trophoblast cells. {ECO:0000269|PubMed:15806103}.
• Sequence:

  MARPVQLAPGSLALVLCRLEAQKAAGAAEEPGGRAVFRAFRRANARCFWNARLARAASRL
  AFQGWLRRGVLLVRAPPACLQVLRDAWRRRALRPPRGFRIRAVGDVFPVQMNPITQSQFV
  PLGEVLCCAISDMNTAQIVVTQESLLERLMKHYPGIAIPSEDILYTTLGTLIKERKIYHT
  GEGYFIVTPQTYFITNTTTQENKRMLPSDESRLMPASMTYLVSMESCAESAQENAAPISH
  CQSCQCFRDMHTQDVQEAPVAAEVTRKSHRGLGESVSWVQNGAVSVSAEHHICESTKPLP
  YTRDKEKGKKFGFSLLWRSLSRKEKPKTEHSSFSAQFPPEEWPVRDEDDLDNIPRDVEHE
  IIKRINPILTVDNLIKHTVLMQKYEEQKKYNSQGTSTDMLTIGHKYPSKEGVKKRQGLSA
  KPQGQGHSRRDRHKARNQGSEFQPGSIRLEKHPKLPATQPIPRIKSPNEMVGQKPLGEIT
  TVLGSHLIYKKRISNPFQGLSHRGSTISKGHKIQKTSDLKPSQTGPKEKPFQKPRSLDSS
  RIFDGKAKEPYAEQPNDKMEAESIYINDPTVKPINDDFRGHLFSHPQQSMLQNDGKCCPF
  MESMLRYEVYGGENEVIPEVLRKSHSHFDKLGETKQTPHSLPSRGASFSDRTPSACRLVD
  NTIHQFQNLGLLDYPVGVNPLRQAARQDKDSEELLRKGFVQDAETTSLENEQLSNDDQAL
  YQNEVEDDDGACSSLYLEEDDISENDDLRQMLPGHSQYSFTGGSQGNHLGKQKVIERSLT
  EYNSTMERVESQVLKRNECYKPTGLHATPGESQEPNLSAESCGLNSGAQFGFNYEEEPSV
  AKCVQASAPADERIFDYYSARKASFEAEVIQDTIGDTGKKPASWSQSPQNQEMRKHFPQK
  FQLFNTSHMPVLAQDVQYEHSHLEGTENHSMAGDSGIDSPRTQSLGSNNSVILDGLKRRQ
  NFLQNVEGTKSSQPLTSNSLLPLTPVINV

• Sequence length: 989

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PREECLAMPSIA ECLAMPSIA 4	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preeclampsia/eclampsia 4	risk factor; Benign; Likely benign	ClinVar ClinVar, HPO ClinVar, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCHIZOPHRENIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOX1-related disorder	Uncertain significance; Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Alzheimer Disease, Late Onset	Alzheimer disease	BEFREE	20110611		★☆☆☆☆ Found in Text Mining only
Amyloidosis	Amyloidosis	BEFREE	20110611		★☆☆☆☆ Found in Text Mining only
Cardiovascular Diseases	Cardiovascular Diseases	BEFREE	31417152		★☆☆☆☆ Found in Text Mining only
Choriocarcinoma	Choriocarcinoma	BEFREE	19079545, 19577309		★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent	Diabetes Mellitus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dyssomnias	Dyssomnia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	17617193, 20110611, 20400461, 20716964		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	19079545, 24842698, 31189914		★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	HPO_DG			★☆☆☆☆ Found in Text Mining only
Idiopathic pulmonary arterial hypertension	Pulmonary arterial hypertension	BEFREE	31207359		★☆☆☆☆ Found in Text Mining only
Intervertebral disc disease	Intervertebral disc disease	Pubtator	31724315	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	GWASCAT_DG	27903959		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	39770895	Associate	★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	37347215	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Preeclampsia	Preeclampsia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preeclampsia Eclampsia 4	Preeclampsia/eclampsia	UNIPROT_DG	15806103		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Preeclampsia Eclampsia 4	Preeclampsia/eclampsia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sleep Disorders	Sleep Disorders	HPO_DG			★☆☆☆☆ Found in Text Mining only