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DUXB double homeobox B [ Homo sapiens (human) ]

Gene ID: 100033411, updated on 8-Mar-2024

Summary

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Official Symbol
DUXBprovided by HGNC
Official Full Name
double homeobox Bprovided by HGNC
Primary source
HGNC:HGNC:33345
See related
Ensembl:ENSG00000282757 MIM:618698; AllianceGenome:HGNC:33345
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
Summary
Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs
all
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Genomic context

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Location:
16q23.1
Exon count:
5
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (75693893..75701461, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (81742181..81749750, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (75727791..75735359, complement)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75681635-75682592 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:75682593-75683548 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 11146 Neighboring gene TERF2 interacting protein Neighboring gene cytoplasmic polyadenylated homeobox like 2 Neighboring gene RNA, 7SL, cytoplasmic 520, pseudogene Neighboring gene ATP synthase peripheral stalk-membrane subunit b pseudogene 7 Neighboring gene cytoplasmic polyadenylated homeobox like

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. Characterization and target genes of nine human PRD-like homeobox domain genes expressed exclusively in early embryos. Madissoon E, et al. Sci Rep, 2016 Jul 14. PMID 27412763, Free PMC Article
  2. Novel PRD-like homeodomain transcription factors and retrotransposon elements in early human development. Töhönen V, et al. Nat Commun, 2015 Sep 11. PMID 26360614, Free PMC Article
  3. Annotation, nomenclature and evolution of four novel homeobox genes expressed in the human germ line. Booth HA, et al. Gene, 2007 Jan 31. PMID 17005330
  4. Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. Clapp J, et al. Am J Hum Genet, 2007 Aug. PMID 17668377, Free PMC Article
  5. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, et al. Brief Bioinform, 2011 Sep. PMID 21873635, Free PMC Article

GeneRIFs: Gene References Into Functions

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

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

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
Inferred from Biological aspect of Ancestor
more info
  
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 regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  

General protein information

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Preferred Names
double homeobox protein B

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_001351307.2 → NP_001338236.1  double homeobox protein B isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC025287
    Consensus CDS
    CCDS86542.1
    UniProtKB/Swiss-Prot
    A0A1W2PPF3
    Related
    ENSP00000491301.1, ENST00000633875.4
    Conserved Domains (1) summary
    cd00086
    Location:16 → 72
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  2. NM_001351308.2 → NP_001338237.1  double homeobox protein B isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC025287
    Conserved Domains (1) summary
    cd00086
    Location:16 → 74
    homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

  3. NM_001351309.2 → NP_001338238.1  double homeobox protein B isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC025287

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

    Range
    75693893..75701461 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060940.1 Alternate T2T-CHM13v2.0

    Range
    81742181..81749750 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
A0A1W2PPF3.1 GenPept UniProtKB/Swiss-Prot:A0A1W2PPF3

Gene LinkOut

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Molecular Biology Databases
Research Materials