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SEBOX SEBOX homeobox [ Homo sapiens (human) ]

Gene ID: 645832, updated on 2-Nov-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 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)

Genotypes

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
is_active_in cellular_component ND
No biological Data available
more info
  
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.

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