DUX4

DUX4
Identifiers
Aliases	DUX4, DUX4L, double homeobox 4
External IDs	OMIM: 606009; GeneCards: DUX4; OMA:DUX4 - orthologs
Gene location (Human) Chr. Chromosome 4 (human)[1] Band 4q35.2 Start 190,173,774 bp[1] End 190,185,942 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in gonad monocyte sural nerve left testis muscle of thigh right testis primary visual cortex smooth muscle tissue duodenum apex of heart n/a More reference expression data BioGPS 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 Species Human Mouse Entrez 100288687 n/a Ensembl ENSG00000260596 ENSG00000283949 n/a UniProt Q9UBX2 n/a RefSeq (mRNA) NM_001205218 NM_001278056 NM_001293798 NM_001306068 NM_001363820 n/a RefSeq (protein) NP_001280727 NP_001292997 NP_001350749 n/a Location (UCSC) Chr 4: 190.17 – 190.19 Mb n/a PubMed search [2] 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).