DUX4 (double homeobox 4)

Gene

• Entrez ID: 100288687
• Gene name: Double homeobox 4
• Gene symbol: DUX4
• Synonyms (NCBI Gene): DUX4L
• Chromosome: 4
• Chromosome location: 4q35.2
• 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

Transcription factors

Transcription factor	Regulation	Reference
PITX1	Unknown	23206257

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	17984056
GO:0000977	Function	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	17984056
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	17984056, 30315230
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	26816005
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17984056, 26816005
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	17588759
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA
GO:0005737	Component	Cytoplasm	IDA	26816005
GO:0005737	Component	Cytoplasm	IEA
GO:0005794	Component	Golgi apparatus	IDA
GO:0005829	Component	Cytosol	IDA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006915	Process	Apoptotic process	IDA	17588759
GO:0008285	Process	Negative regulation of cell population proliferation	IMP	24589735
GO:0031965	Component	Nuclear membrane	IDA	17588759
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17984056, 24589735, 30315230
GO:0070317	Process	Negative regulation of G0 to G1 transition	IDA	24589735
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	30322619
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IEA

Other IDs

• MIM: 606009
• HGNC: 50800
• e!Ensembl: ENSG00000260596

Protein

• UniProt ID: Q9UBX2
• Protein name: Double homeobox protein 4 (Double homeobox protein 10)
• Protein function: [Isoform 1]: Transcription factor that is selectively and transiently expressed in cleavage-stage embryos (PubMed:28459457). Binds to double-stranded DNA elements with the consensus sequence 5'-TAATCTAATCA-3' (PubMed:28459454, PubMed:28459457, P
• PDB: 5Z2S, 5Z2T, 5Z6Z, 5ZFW, 5ZFY, 5ZFZ, 6A8R, 6DFY, 6E8C, 6U81, 6U82
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00046	Homeodomain	20 → 76	Homeodomain	Domain
  PF00046	Homeodomain	95 → 149	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Isoform 1: Does not seem to be expressed in normal muscle, but is detected in muscle of individuals with FSHD, and also in testis (at protein level) (PubMed:17984056, PubMed:21060811). Isoform 1: Does not seem to be expressed in normal
• Sequence:

  MALPTPSDSTLPAEARGRGRRRRLVWTPSQSEALRACFERNPYPGIATRERLAQAIGIPE
  PRVQIWFQNERSRQLRQHRRESRPWPGRRGPPEGRRKRTAVTGSQTALLLRAFEKDRFPG
  IAAREELARETGLPESRIQIWFQNRRARHPGQGGRAPAQAGGLCSAAPGGGHPAPSWVAF
  AHTGAWGTGLPAPHVPCAPGALPQGAFVSQAARAAPALQPSQAAPAEGISQPAPARGDFA
  YAAPAPPDGALSHPQAPRWPPHPGKSREDRDPQRDGLPGPCAVAQPGPAQAGPQGQGVLA
  PPTSQGSPWWGWGRGPQVAGAAWEPQAGAAPPPQPAPPDASASARQGQMQGIPAPSQALQ
  EPAPWSALPCGLLLDELLASPEFLQQAQPLLETEAPGELEASEEAASLEAPLSEEEYRAL
  LEEL

• Sequence length: 424