DUX4
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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| double homeobox 4 | MIM:606009 | Ensembl:ENSG00000260596 | HGNC:HGNC:50800 | 4q35.2 |
Gene Categories:
TUMOR SUPPRESSORGO terms in DUX4
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| CC | IDA | GO:0005634 | nucleus |
| CC | IDA | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | IDA | GO:0005794 | Golgi apparatus |
| CC | IDA | GO:0005829 | cytosol |
| CC | IDA | GO:0031965 | nuclear membrane |
| BP | IEA | GO:0006366 | transcription by RNA polymerase II |
| BP | IDA | GO:0006915 | apoptotic process |
| BP | IDA | GO:0008285 | negative regulation of cell proliferation |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0070317 | negative regulation of G0 to G1 transition |
| MF | IDA | GO:0000976 | transcription regulatory region sequence-specific DNA binding |
| MF | IDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IDA | GO:0001077 | transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | IPI | GO:0005515 | protein binding |
Gene expression in normal tissue: DUX4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in DUX4
| Database | Pathway ID | Pathway Des. |
|---|
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in DUX4
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