STOX1 (storkhead box 1)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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 information provided by dbSNP.
2
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (2)
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 miRNA information provided by mirtarbase database.
6
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (6)
miRTarBase ID miRNA Experiments Reference
MIRT017203 hsa-miR-335-5p Microarray 18185580
MIRT733171 hsa-miR-365a-3p MicroarrayqRT-PCR 32743775
MIRT1399110 hsa-miR-1272 CLIP-seq
MIRT1399111 hsa-miR-1322 CLIP-seq
MIRT1399112 hsa-miR-3152-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all (41)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609397 23508 ENSG00000165730
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder Benign; Likely benign rs10509305 RCV005628133
Preeclampsia/eclampsia 4 risk factor; Benign; Likely benign rs1341667, rs10509305 RCV000001789
RCV000001790
STOX1-related disorder Uncertain significance; Benign; Likely benign rs139412198, rs10509306, rs200497618, rs57004679, rs147081436 RCV003954013
RCV003979504
RCV003929392
RCV003949348
RCV003949234
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Choriocarcinoma Associate 19079545
HELLP Syndrome Associate 36369889
Inflammation Associate 31724315
Intervertebral disc disease Associate 31724315
Myocardial Infarction Associate 39770895
Neuroblastoma Associate 37347215
Pre Eclampsia Associate 19079545, 20643876, 20716964, 36369889
Preeclamptic toxemia Associate 19079545