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    SEBOX SEBOX homeobox [ Homo sapiens (human) ]

    Gene ID: 645832, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SEBOXprovided by HGNC
    Official Full Name
    SEBOX homeoboxprovided by HGNC
    Primary source
    HGNC:HGNC:32942
    See related
    Ensembl:ENSG00000274529 MIM:610975; AllianceGenome:HGNC:32942
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OG9; OG-9; OG9X
    Summary
    Homeodomain proteins, such as SEBOX, play a key role in coordinating gene expression during development (Cinquanta et al., 2000 [PubMed 10922053]).[supplied by OMIM, Mar 2008]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SEBOX in Genome Data Viewer
    Location:
    17q11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 17 NC_000017.11 (28363506..28365199, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 17 NC_060941.1 (29305357..29307050, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (26690528..26692221, complement)

    Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124903963 Neighboring gene DNA polymerase delta interacting protein 2 Neighboring gene H3K27ac hESC enhancer GRCh37_chr17:26683953-26684715 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11924 Neighboring gene transmembrane protein 199 Neighboring gene microRNA 4723 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8337 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 8338 Neighboring gene vitronectin Neighboring gene sterile alpha and TIR motif containing 1 Neighboring gene MPRA-validated peak2778 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11925 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26722700-26723383 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr17:26724067-26724750 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11926 Neighboring gene solute carrier family 46 member 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr17:26729147-26729889

    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. Mouse Sebox homeobox gene expression in skin, brain, oocytes, and two-cell embryos. Cinquanta M, et al. Proc Natl Acad Sci U S A, 2000 Aug 1. PMID 10922053, Free PMC Article
    2. Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels. Kwan JS, et al. Hum Mol Genet, 2014 Dec 15. PMID 25080503, Free PMC Article
    3. A GO catalogue of human DNA-binding transcription factors. Lovering RC, et al. Biochim Biophys Acta Gene Regul Mech, 2021 Nov-Dec. PMID 34673265
    4. A whole genome screen for HIV restriction factors. Liu L, et al. Retrovirology, 2011 Nov 14. PMID 22082156, Free PMC Article
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. Bailey SD, et al. Diabetes Care, 2010 Oct. PMID 20628086, Free PMC Article

    See all (7) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
    3. This publication reported the human SEBOX gene sequence and predicted amino acid sequence, in addition to mouse and rat Sebox gene sequences.
      Title: Mouse Sebox homeobox gene expression in skin, brain, oocytes, and two-cell embryos.
    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
    Meta-analysis of genome-wide association studies identifies two loci associated with circulating osteoprotegerin levels.
    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)

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of SEBOX homeobox by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N PubMed

    Go to the HIV-1, Human Interaction Database

    General gene information

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    Markers

    Potential readthrough

    Included gene: VTN

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables DNA-binding transcription factor activity NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in embryo development ending in birth or egg hatching IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in oogenesis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    homeobox protein SEBOX
    Names
    homeobox OG-9
    skin-, embryo-, brain- and oocyte-specific homeobox

    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_001080837.4 → NP_001074306.3  homeobox protein SEBOX

      Status: VALIDATED

      Source sequence(s)
      AC002094, KF573650
      Consensus CDS
      CCDS45634.2
      UniProtKB/Swiss-Prot
      F6T8T6, Q9HB31
      Related
      ENSP00000444503.3, ENST00000536498.6
      Conserved Domains (1) summary
      pfam00046
      Location:22 → 73
      Homeobox; Homeobox domain

    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_000017.11 Reference GRCh38.p14 Primary Assembly

      Range
      28363506..28365199 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060941.1 Alternate T2T-CHM13v2.0

      Range
      29305357..29307050 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001083896.1: Suppressed sequence

      Description
      NM_001083896.1: This RefSeq was permanently suppressed because it represents a read-through transcript between VTN (GeneID 7448) and SEBOX (GeneID 645832) and currently there is insufficient support for the transcript and the protein.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9HB31.3 GenPept UniProtKB/Swiss-Prot:Q9HB31

    Gene LinkOut

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

    Chemical Information
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