STOX1 (storkhead box 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
219736
Gene name Gene Name - the full gene name approved by the HGNC.
Storkhead box 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
STOX1
Synonyms (NCBI Gene) Gene synonyms aliases
C10orf24
Chromosome Chromosome number
10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
10q22.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 Microarray, qRT-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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(24)
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA 22253775
GO:0001650 Component Fibrillar center IDA
GO:0005515 Function Protein binding IPI 25416956, 31515488, 32296183
GO:0005634 Component Nucleus IDA 22253775
GO:0005654 Component Nucleoplasm IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
609397 23508 ENSG00000165730
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (5)
Causal
Disease term Disease name dbSNP ID References
Diabetes mellitus Diabetes Mellitus, Insulin-Dependent rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs1362648752, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237
View all (293 more)
Hypertension Hypertensive disease rs13306026
Kidney disease Chronic Kidney Diseases rs74315342, rs749740335, rs757649673, rs112417755, rs35138315
Leukemia Leukemia, Myelocytic, Acute rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27903959
Show/Hide Unknown Diseases (4)
Unknown
Disease term Disease name Evidence References Source
Preeclampsia Preeclampsia ClinVar
Cervical Cancer Cervical Cancer Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2). GWAS, CBGDA
Schizophrenia Schizophrenia GWAS
Insomnia Insomnia GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining
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