Aliases &
Descriptions
for DUX4L5 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc
, and/or 7Ensembl,
8miRBase)
About This Section
|
| Aliases & Descriptions |
|---|
| double homeobox 4 like 51 2 | | OTTHUMP000002200402 | | double homeobox, 4-like2 | | DUX103 | | Double homeobox protein 4/103 | | Double homeobox protein 103 |
Export aliases for DUX4L5 gene to outside databases |
Summaries
for DUX4L5 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2Function: May be involved in transcriptional regulation
|
Genomic Views
for DUX4L5 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 60),
Regulatory elements and Epigenetics data according to
Qiagen and/or
SABiosciences)
About This Section
|
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for DUX4L5
Other transcription factors
Search SABiosciences Chromatin IP Primers for DUX4L5
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays  |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 4q35.2 Ensembl cytogenetic band: 4q35.2 HGNC cytogenetic band: 4q35.2DUX4L5 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure GeneLoc location for GC04P190999: view genomic region
(about GC identifiers)
Start:
|
190,998,673 bp from pter |
End:
|
191,000,289 bp from pter |
Size:
|
1,617 bases |
Orientation:
|
plus strand |
RefSeq DNA sequence:- NC_000004.11 NT_016354.19
|
Proteins
for DUX4L5 gene
(According to
1UniProtKB,
neXtProt,
and/or Ensembl,
Phosphorylation sites according to 2Phosphosite,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological, and/or
ProSpec,
Biochemical Assays by
Millipore,
Sigma-Aldrich,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Dec 2010 and
Entrez Gene,
Antibodies by
Millipore,
Sigma-Aldrich,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals, and/or
Epitomics)
About This Section
|
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2 (See
protein sequence)Recommended Name: Double homeobox protein 4 Size: 424 amino acids; 44940 Da
Subunit: May exist as a monomer or a dimer
Subcellular location: Nucleus. Note=Actively transported through the nuclear pore complex (NPC)
Miscellaneous: DUX genes are present in 3.3-kilobase elements, a tandem repeat family scattered in the genome found onthe short arms of all acrocentric chromosomes as well as on several other chromosomesExplore the universe of human proteins at neXtProt for DUX4L5: NX_Q9UBX2
REFSEQ proteins: NP_001120861.2
ENSEMBL proteins: ENSP00000405630 ENSP00000425637
Human Recombinant Proteins
1 Gene Ontology (GO) cellular component term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005634 | nucleus |
-- | -- |
About this table
DUX4L5 for ontologies About GeneDecksing
Antibodies for DUX4L5:
Assays for DUX4L5: |
Protein
Domains/
Families
for DUX4L5 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
DUX4L5 for domains About GeneDecksing
4 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q9UBX2ProtoNet protein and cluster: Q9UBX2 1 Blocks protein family: IPB000047 Lambda and other repressor helix-turn-helix signature
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2Domain: Both homebox domains confer nuclear targetingSimilarity: Belongs to the paired homeobox familySimilarity: Contains 2 homeobox DNA-binding domains |
Gene Function
for DUX4L5 gene
(According to UniProtKB,
IUBMB,and/or
Genatlas, Animal models from MGI Dec 24 2010,
shRNA from
OriGene,
Sigma-Aldrich,
RNAi from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Clones from Millipore,
Sigma-Aldrich,
OriGene,
GenScript,
Sino Biological,
Cell Lines from GenScript,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene.)
About This Section
|
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2Function: May be involved in transcriptional regulation
2 Gene Ontology (GO) molecular function terms (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003700 | sequence-specific DNA binding transcription factor activity |
-- | -- | | GO:0043565 | sequence-specific DNA binding |
-- | -- |
About this table
DUX4L5 for ontologies About GeneDecksing
|
Pathways & Interactions
for DUX4L5 gene
(Pathways according to
Millipore,
Cell Signaling Technology,
Sigma-Aldrich,
KEGG
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
PCR Arrays from
SABiosciences,
Proteins Network according to
SABiosciences,
Sigma-Aldrich,
Interactions according to 1UniProtKB,
2MINT, and/or
3STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Dec 2010 via
Entrez Gene).
About This Section
|
SABiosciences Custom Pathway-Focused PCR Arrays for DUX4L5
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for DUX4L5
1 Gene Ontology (GO) biological process term (GO ID links to tree view): | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006355 | regulation of transcription, DNA-dependent |
-- | -- |
About this table
DUX4L5 for ontologies About GeneDecksing
|
Drugs & Compounds
for DUX4L5 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
Sigma-Aldrich, Tocris Bioscience, and/or
Novoseek and Drugs according to
Enzo Life Sciences and/or
PharmGKB)
About This Section
|
 Browse Tocris compounds for DUX4L5
|
Transcripts
for DUX4L5 gene(GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
non coding RNAs according to
RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
Millipore,
siRNAs from
Sigma-Aldrich,
OriGene,
Qiagen,
Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from
Sigma-Aldrich,
OriGene,
microRNA from Sigma-Aldrich,
Qiagen,
SABiosciences,
Tagged/untagged cDNA clones from
OriGene,
Sigma-Aldrich,
GenScript,
Primers from
OriGene and/or
SABiosciences)
About This Section
|
REFSEQ mRNAs for DUX4L5 gene: NM_001127389.1 Unigene Cluster for DUX4L5: Double homeobox 4 like 5 Hs.714687 Unigene Representative Sequence: NM_001127389
GeneLoc Exon Structure
2 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000451074(uc011clj.1) ENST00000507610
|
Expression
for DUX4L5 gene
(Experimental results according to
1GeneNote
and GNF BioGPS,
probe sets-to-genes annotations according to
2GeneAnnot ,
3GeneTide ,
Sets of similar genes according to GeneDecks,
Electronic Northern calculations according to data from
UniGene (Build 228 Homo sapiens),
SAGE tags according to
CGAP,
plus additional links to
SOURCE, and/or
GNF
BioGPS, and/or
EXPOLDB, and/or
UniProtKB,
Primers from
OriGene and/or
SABiosciences
)
About This Section
| DUX4L5 expression in normal and diseased human tissues
Data from GNF BioGPS
About these images
About these images
CGAP SAGE TAG: --
SOURCE GeneReport for Unigene cluster: Hs.714687
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2Tissue specificity: Does not seem to be expressed in normal muscle, but in muscle of individuals with FSHD, where itmay be toxic to cells
SABiosciences Custom PCR Arrays for DUX4L5
|
Orthologs
for DUX4L5 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
and/or
5MGI Dec 24 2010,
with possible further links to
Flybase
and/or
WormBase,
Gene Trees according to Ensembl)
About This Section
|
Orthologs for DUX4L5 gene from 2 species
About this table Species with no ortholog for DUX4L5
ENSEMBL Gene Tree for DUX4L5 (if available) |
Paralogs
for DUX4L5 gene(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
| Paralogs for DUX4L5 gene
- LOC728410 DUX41 2 LOC653544 LOC653548 LOC653543 LOC440017 LOC440013 LOC399839
- LOC728022 LOC441056 LOC401650 LOC440014 LOC653541 ENSG000002296172 ENSG000002310892 ENSG000002329232
- DUX4L32 ENSG000002336982 PROP12 DUXA2 ENSG000002268662 ENSG000002332942 DUX4L72 DUX4L62
- MIXL12 ENSG000002337942 ENSG000002157542 DUX4L42 ENSG000002143252 ENSG000002306422 ENSG000002259582 ENSG000002345502
- ENSG000002245582 ENSG000002307762 DUX4L22 ENSG000002176422 ENSG000002362072 ENSG000002333612 ENSG000002287102 ENSG000002303802
DUX4L5 for paralogs About GeneDecksing
|
Genomic Variants
for DUX4L5 gene(SNPs according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE, and
UniProtKB,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section
| |
Disorders & Mutations
for DUX4L5 gene
(in which this Gene is Involved, According to
OMIM, UniProtKB,
PharmGKB,
Genatlas, GeneTests,
Blood group antigen gene mutations by BGMUT,
LSDB, HGMD, GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
DUX4L5 for disorders About GeneDecksing
UniProtKB/Swiss-Prot: DUX4_HUMAN, Q9UBX2
Defects in DUX4 may be the cause of facioscapulohumeral muscular dystrophy (FSHD) [MIM:158900]. FSHD ischaracterized by weakness of the muscles of the face, upper-arm and shoulder girdle. Severity is highly variable.Weakness is slowly progressive and about 20% of affected individuals eventually require a wheelchair. Approximately70-90% of individuals have inherited the disease-causing deletion from a parent, and approximately 10-30% of affectedindividuals have FSHD as the result of a de novo deletion. Offsprings of an affected individual have a 50% chance ofinheriting the deletionExport disorders and mutations for DUX4L5 gene to outside databases
|
Medical News
for DUX4L5 gene(Possibly Related Articles in
Doctor's Guide)
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| -- |
Publications
for DUX4L5 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6UniProtKB/TrEMBL, and/or
7Novoseek)
About This Section
|
5 PubMed articles for DUX4L5 gene integrated from 7 sources:
(articles sorted by number of sources associating them with DUX4L5)- Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element. (PubMed id 10433963)1, 2 Gabrieels J.... Belayew A. (1999)
- Evolutionary conservation of a coding function for D4Z4, the tandem DNA repeat mutated in facioscapulohumeral muscular dystrophy. (PubMed id 17668377)1 Clapp J....Hewitt J.E. (2007)
- The DUX4 gene at the FSHD1A locus encodes a pro-apoptotic protein. (PubMed id 17588759)1 Kowaljow V....Rosa A.L. (2007)
- Intracellular trafficking and dynamics of double homeodomain proteins. (PubMed id 15709750)2 Oestlund C.... Worman H.J. (2005)
- Characterization of a tandemly repeated 3.3kb KpnI unit in the facioscapulohumeral muscular dystrophy (FSHD) gene region on chromosome 4q35. (PubMed id 7739628)1 Lee J.... Arahata K. (1995)
|
External Searches for DUX4L5 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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|
Genome Databases showing DUX4L5 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing DUX4L5 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing DUX4L5 gene(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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|
|
About This Section
| Patent Information for DUX4L5 gene:
Search GeneIP for patents involving DUX4L5
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for DUX4L5 gene(Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or
Enzo Life Sciences)
About This Section
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