DUX4 (double homeobox 4)

Gene
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
100288687
Gene name Gene Name - the full gene name approved by the HGNC.
Double homeobox 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
DUX4
Synonyms (NCBI Gene) Gene synonyms aliases
DUX4L
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
PITX1 Unknown 23206257
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0000976 Function Transcription regulatory region sequence-specific DNA binding IDA 17984056
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IBA 21873635
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 21873635
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IDA 17984056, 30315230
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
606009 50800 ENSG00000260596
Protein
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
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
Interactions View interactions
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
Facioscapulohumeral muscular dystrophy Muscular Dystrophy, Facioscapulohumeral, Facioscapulohumeral muscular dystrophy 1a rs387907319, rs397514623, rs1057519614, rs1598416221, rs886041918, rs886042417, rs1057519644, rs1245372794, rs1555642277, rs1555644339, rs1555647265, rs886044369, rs1568350731, rs377471712, rs2075161300
View all (2 more)		 22796148, 27672539
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Lymphoblastic leukemia Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor Cell Lymphoblastic Leukemia Lymphoma rs387906351, rs104894562, rs398122513, rs398122840, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699
View all (13 more)		 27776115, 27019113
Show/Hide Text Mining Associations (47)
Associations from Text Mining
Disease Name Relationship Type References
Arhinia choanal atresia and microphthalmia Associate 30698748, 35121673, 36800423
Ataxia Telangiectasia Associate 30107443
Atrophy Associate 23272181
Carcinogenesis Associate 22072439
Carcinoma Associate 32014859
Cardiac Tamponade Associate 33640895
Chromosome 8 trisomy Associate 24947144
Colorectal Neoplasms Associate 28791382
Death Associate 32576599
Desmoplastic Small Round Cell Tumor Associate 24723486, 24950227, 26752546, 28346326