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DUX4 double homeobox 4 [ Homo sapiens (human) ]

Gene ID: 100288687, updated on 26-Oct-2022

Summary

Official Symbol
DUX4provided by HGNC
Official Full Name
double homeobox 4provided by HGNC
Primary source
HGNC:HGNC:50800
See related
Ensembl:ENSG00000260596 MIM:606009; AllianceGenome:HGNC:50800
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
DUX4L
Summary
This gene is located within a D4Z4 repeat array in the subtelomeric region of chromosome 4q. The D4Z4 repeat is polymorphic in length; a similar D4Z4 repeat array has been identified on chromosome 10. Each D4Z4 repeat unit has an open reading frame (named DUX4) that encodes two homeoboxes; the repeat-array and ORF is conserved in other mammals. The encoded protein has been reported to function as a transcriptional activator of paired-like homeodomain transcription factor 1 (PITX1; GeneID 5307). Contraction of the macrosatellite repeat causes autosomal dominant facioscapulohumeral muscular dystrophy (FSHD). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Annotation information
Note: GeneID: 22947 was previously named DUX4/double homeobox 4. GeneID: 100288687 is currently assigned the official DUX4/double homeobox 4 gene name. [19 Jun 2018]
Expression
Low expression observed in reference dataset See more
Orthologs
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Genomic context

See DUX4 in Genome Data Viewer
Location:
4q35.2
Exon count:
7
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (190173774..190185911)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (193541579..193553139)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) Unplaced Scaffold NT_167222.1 (112605..124171)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene double homeobox 4 like 2 (pseudogene) Neighboring gene uncharacterized LOC107986338 Neighboring gene ribosomal protein L23a pseudogene 84

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in nuclear membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleolus IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
double homeobox protein 4
Names
double homeobox protein 10
double homeobox protein 4/10

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.

Genomic

  1. NG_034189.3 RefSeqGene

    Range
    1701..3772
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_1075

mRNA and Protein(s)

  1. NM_001293798.3NP_001280727.1  double homeobox protein 4 isoform DUX4-fl

    See identical proteins and their annotated locations for NP_001280727.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (DUX4-fl).
    Source sequence(s)
    AC215524, HQ266760
    Consensus CDS
    CCDS77990.1
    UniProtKB/Swiss-Prot
    E2JJS1, Q9UBX2
    UniProtKB/TrEMBL
    C3U3A0
    Related
    ENSP00000456539.1, ENST00000569241.5
    Conserved Domains (2) summary
    pfam00046
    Location:97149
    Homeobox; Homeobox domain
    cl26386
    Location:141319
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  2. NM_001306068.3NP_001292997.1  double homeobox protein 4 isoform DUX4-fl

    See identical proteins and their annotated locations for NP_001292997.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (DUX4-fl). Both variants 1 and 2 encode the same isoform.
    Source sequence(s)
    AC215524, HQ266761, HQ266762
    Consensus CDS
    CCDS77990.1
    UniProtKB/Swiss-Prot
    E2JJS1, Q9UBX2
    UniProtKB/TrEMBL
    C3U3A0, E2JJS1
    Related
    ENSP00000458065.1, ENST00000565211.1
    Conserved Domains (2) summary
    pfam00046
    Location:97149
    Homeobox; Homeobox domain
    cl26386
    Location:141319
    DNA_pol3_gamma3; DNA polymerase III subunits gamma and tau domain III
  3. NM_001363820.2NP_001350749.1  double homeobox protein 4 isoform DUX4-s

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) lacks a large portion of the coding region compared to variant 1. The resulting isoform (DUX4-s) has a shorter and distinct C-terminus compared to isoform DUX4-fl.
    Source sequence(s)
    AC215524
    Consensus CDS
    CCDS93681.1
    Related
    ENSP00000455112.1, ENST00000570263.5
    Conserved Domains (2) summary
    cd00086
    Location:2578
    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.
    pfam00046
    Location:97149
    Homeobox; Homeobox domain

RNA

  1. NR_137167.1 RNA Sequence

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) has multiple differences in the 3' end compared to variant 1, including a distinct 3' terminus. This variant is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    HQ266760, HQ266765

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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
    190173774..190185911
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 PATCHES

Genomic

  1. NW_015495300.1 Reference GRCh38.p14 PATCHES

    Range
    200222..211788
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    193541579..193553139
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001205218.1: Suppressed sequence

    Description
    NM_001205218.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
  2. NM_001278056.1: Suppressed sequence

    Description
    NM_001278056.1: This RefSeq was permanently suppressed because it is now thought that this gene does not encode a protein.
  3. NR_038191.1: Suppressed sequence

    Description
    NR_038191.1: This RefSeq was temporarily suppressed because currently there is not sufficient data to support this transcript.