| Gene Information | |
|---|---|
| Gene Name | DUX4 |
| Organism | Homo sapiens (Human) |
| Gene Length | 424 |
| Protein Names | Double homeobox protein 4 (Double homeobox protein 10) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 55 ( ENSG00000260596 ) 3 ( ENSG00000283949 ) |
| Evolutionary Stage | Eumetazoa |
| AlphaFoldDB | Q9UBX2 |
| Gene Card | DUX4 |
| Uniprot ID | Q9UBX2 |
| Pfam | PF00046 |
| In ASD | no |
| Allosteric Prediction | no (-0.422264704) |
| Ortholog in Animals | Mouse_ Duxbl1 ( ortholog_one2one ) Rat_ Dux4 ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | ARGFX, PAX7, PAX3, ALX4, PAX2, UNCX, RAX2, PAX8, DMBX1, DPRX, PAX5, ISX, ALX3, RHOXF2B, RHOXF2, GSC2, SEBOX, RAX, DRGX, ARX, RHOXF1, PITX3, PRRX1, SHOX, SHOX2, PRRX2, OTX2, PAX4, EVX1, PAX1, PITX2, PHOX2A, CRX, PHOX2B, EVX2, ALX1, VSX2, MIXL1, DUXA, PAX6, OTP, HESX1, NOBOX, PROP1, PAX9, GSC, ESX1, DUXB, PITX1, OTX1 |
| Tissue | NA |
| 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:21060811, PubMed:17984056). Isoform 1: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where it may be toxic to cells (PubMed:21060811, PubMed:17984056). Isoform 2: Detected in skeletal muscle, fibroblasts and testis from healthy individuals (PubMed:21060811). {ECO:0000269|PubMed:17984056, ECO:0000269|PubMed:21060811}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
|
| Gene Ontology (cellular component) |
|
| Gene Ontology (molecular function) |
|
| PDB | 5Z2S (X-ray 1.50A ) 5Z2T (X-ray 2.62A ) 5Z6Z (X-ray 2.30A ) 5ZFW (X-ray 2.10A ) 5ZFY (X-ray 2.30A ) 5ZFZ (X-ray 1.90A ) 6A8R (X-ray 1.60A ) 6DFY (X-ray 2.62A ) 6E8C (X-ray 2.12A ) 6U81 (X-ray 2.34A ) 6U82 (X-ray 3.21A ) |
| DBSNP | NA |
| Subcellular location [CC] | [Isoform 1]: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108, ECO:0000269|PubMed:15709750, ECO:0000269|PubMed:17984056, ECO:0000269|PubMed:21060811, ECO:0000269|PubMed:26951377, ECO:0000269|PubMed:27378237, ECO:0000269|PubMed:28459457, ECO:0000269|PubMed:29618456}. Note=Actively transported through the nuclear pore complex (NPC). {ECO:0000305|PubMed:15709750}.; [Isoform 2]: Nucleus {ECO:0000269|PubMed:29618456, ECO:0000305|PubMed:15709750}. |
| Mouse PG classification | NA |
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