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    STOX2 storkhead box 2 [ Homo sapiens (human) ]

    Gene ID: 56977, updated on 10-Dec-2024

    Summary

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    Official Symbol
    STOX2provided by HGNC
    Official Full Name
    storkhead box 2provided by HGNC
    Primary source
    HGNC:HGNC:25450
    See related
    Ensembl:ENSG00000173320 MIM:617359; AllianceGenome:HGNC:25450
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Summary
    This gene encodes a Storkhead-box_winged-helix domain containing protein. This protein is differentially expressed in decidual tissue and may be involved in the susceptibility to pre-eclampsia with fetal growth restriction. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
    Expression
    Broad expression in brain (RPKM 5.4), thyroid (RPKM 2.4) and 22 other tissues See more
    Orthologs
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    Genomic context

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    See STOX2 in Genome Data Viewer
    Location:
    4q35.1
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (183798022..184023530)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (187141451..187367423)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (184719175..184944683)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377581 Neighboring gene uncharacterized LOC124900824 Neighboring gene NANOG hESC enhancer GRCh37_chr4:184720870-184721431 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:184746134-184746634 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:184746635-184747135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:184783325-184783826 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:184799524-184800276 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:184826003-184826712 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:184826713-184827420 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr4:184841522-184842187 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:184845527-184846026 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:184894757-184894946 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:184909090-184909876 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:184938341-184938840 Neighboring gene uncharacterized LOC107986330 Neighboring gene very low density lipoprotein receptor pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Inhibition of FGF and TGF-β Pathways in hESCs Identify STOX2 as a Novel SMAD2/4 Cofactor. Renz PF, et al. Biology (Basel), 2020 Dec 16. PMID 33339109, Free PMC Article
    2. Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families. Oudejans CB, et al. Sci Rep, 2016 Aug 24. PMID 27555360, Free PMC Article
    3. Storkhead box 2 and melanoma inhibitory activity promote oral squamous cell carcinoma progression. Sasahira T, et al. Oncotarget, 2016 May 3. PMID 27050375, Free PMC Article
    4. STOX2 but not STOX1 is differentially expressed in decidua from pre-eclamptic women: data from the Second Nord-Trondelag Health Study. Fenstad MH, et al. Mol Hum Reprod, 2010 Dec. PMID 20643876, Free PMC Article
    5. A GO catalogue of human DNA-binding transcription factors. Lovering RC, et al. Biochim Biophys Acta Gene Regul Mech, 2021 Nov-Dec. PMID 34673265

    See all (21) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. A long non-coding RNA within intron 3 of the STOX2 gene on 4q35.1 acts as a permissive cis-acting regulator of alternative splicing of STOX2.Non-coding RNA-directed splicing of STOX2 is affected in Finnish pre-eclamptic patients.
      Title: Noncoding RNA-regulated gain-of-function of STOX2 in Finnish pre-eclamptic families.
    2. Our results suggest that MIA-STOX2 signaling may be a useful diagnostic and therapeutic target in oral squamous cell carcinoma
      Title: Storkhead box 2 and melanoma inhibitory activity promote oral squamous cell carcinoma progression.
    3. STOX2 shows significantly lower expression in deciduas from pregnancies complicated by both pre-eclampsia and FGR as compared with controls.
      Title: STOX2 but not STOX1 is differentially expressed in decidua from pre-eclamptic women: data from the Second Nord-Trondelag Health Study.
    4. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • DKFZp762K222

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Process Evidence Code Pubs
    involved_in embryo development ending in birth or egg hatching IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in maternal placenta development IEP
    Inferred from Expression Pattern
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    storkhead-box protein 2

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_020225.3 → NP_064610.1  storkhead-box protein 2

      See identical proteins and their annotated locations for NP_064610.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the functional protein.
      Source sequence(s)
      AB037813, AC074194, R42234
      Consensus CDS
      CCDS47167.1
      UniProtKB/Swiss-Prot
      A6H8U4, Q9NPS8, Q9P2F5
      Related
      ENSP00000311257.4, ENST00000308497.9
      Conserved Domains (1) summary
      pfam10264
      Location:64 → 140
      Stork_head; Winged helix Storkhead-box1 domain

    RNA

    1. NR_132761.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate 5' most exon and lacks an internal exon compared to variant 1. This variant is represented as non-coding because the predicted protein does not meet RefSeq quality criteria.
      Source sequence(s)
      AC074194, AW205334, R42234

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      183798022..184023530
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008466.2 → XP_016863955.2  storkhead-box protein 2 isoform X1

    2. XM_047415989.1 → XP_047271945.1  storkhead-box protein 2 isoform X2

    3. XM_011532131.2 → XP_011530433.1  storkhead-box protein 2 isoform X3

      Conserved Domains (1) summary
      pfam10264
      Location:18 → 94
      Stork_head; Winged helix Storkhead-box1 domain

    4. XM_047415990.1 → XP_047271946.1  storkhead-box protein 2 isoform X4

    5. XM_024454157.2 → XP_024309925.1  storkhead-box protein 2 isoform X5

      Conserved Domains (1) summary
      pfam10264
      Location:1 → 79
      Stork_head; Winged helix Storkhead-box1 domain

    6. XM_017008467.2 → XP_016863956.1  storkhead-box protein 2 isoform X4

      Conserved Domains (1) summary
      pfam10264
      Location:16 → 94
      Stork_head; Winged helix Storkhead-box1 domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      187141451..187367423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350550.1 → XP_054206525.1  storkhead-box protein 2 isoform X1

    2. XM_054350551.1 → XP_054206526.1  storkhead-box protein 2 isoform X3

    3. XM_054350552.1 → XP_054206527.1  storkhead-box protein 2 isoform X4

    4. XM_054350553.1 → XP_054206528.1  storkhead-box protein 2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9P2F5.2 GenPept UniProtKB/Swiss-Prot:Q9P2F5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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