DUX4 information

DUX4
Identifiers
Aliases	DUX4, DUX4L, double homeobox 4
External IDs	OMIM: 606009 GeneCards: DUX4
Gene location (Human)
Chr.	Chromosome 4 (human)
End	190,185,942 bp
RNA expression pattern
	Top expressed in
	monocyte; ; sural nerve; ; smooth muscle tissue; ; duodenum; ; cervix; ; fundus; ; urinary bladder; ; left uterine tube; ; pituitary gland; ; canal of the cervix;
	n/a
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; transcription cis-regulatory region binding; protein binding; RNA polymerase II cis-regulatory region sequence-specific DNA binding; DNA-binding transcription activator activity, RNA polymerase II-specific; sequence-specific double-stranded DNA binding;
Cellular component	nuclear membrane; nucleus; nucleoplasm; nucleolus; cytosol; Golgi apparatus;
Biological process	negative regulation of G0 to G1 transition; regulation of transcription, DNA-templated; transcription, DNA-templated; negative regulation of cell population proliferation; positive regulation of transcription by RNA polymerase II; apoptotic process; transcription by RNA polymerase II; multicellular organism development;
	Sources:Amigo / QuickGO
Orthologs
	100288687
	n/a
	ENSG00000260596; ENSG00000283949
	n/a
	Q9UBX2
	n/a
	NM_001205218; NM_001278056; NM_001293798; NM_001306068; NM_001363820
	n/a
	NP_001280727; NP_001292997; NP_001350749
	n/a
	Wikidata
View/Edit Human

Double homeobox, 4 also known as DUX4 is a protein which in humans is encoded by the DUX4 gene.^[3] Its misexpression is the cause of facioscapulohumeral muscular dystrophy (FSHD).

^ ^a ^b ^c ENSG00000283949 GRCh38: Ensembl release 89: ENSG00000260596, ENSG00000283949 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, et al. (August 1999). "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element". Gene. 236 (1): 25–32. doi:10.1016/S0378-1119(99)00267-X. PMID 10433963.

[refGRCh38Ensembl-1] ENSG00000283949 GRCh38: Ensembl release 89: ENSG00000260596, ENSG00000283949 – Ensembl, May 2017

[2] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid10433963-3] Gabriëls J, Beckers MC, Ding H, De Vriese A, Plaisance S, van der Maarel SM, et al. (August 1999). "Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element". Gene. 236 (1): 25–32. doi:10.1016/S0378-1119(99)00267-X. PMID 10433963.

DUX4 information

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DUX4

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List of human transcription factors

Muscular dystrophy

Macrosatellite

Chromosome 4

Toshifumi Yokota

Robert Maki

LSMEM2