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Aliases for DMWD Gene

Aliases for DMWD Gene

  • Dystrophia Myotonica, WD Repeat Containing 2 3 5
  • Dystrophia Myotonica-Containing WD Repeat Motif Protein 3 4
  • Protein 59 3 4
  • Dystrophia Myotonica WD Repeat-Containing Protein 3
  • Dystrophia Myotonica-Containing WD Repeat Motif 2
  • Protein DMR-N9 4
  • D19S593E 3
  • DMR-N9 3
  • Gene59 3
  • DMRN9 3
  • DM9 4

External Ids for DMWD Gene

Previous GeneCards Identifiers for DMWD Gene

  • GC19M046917
  • GC19M046664
  • GC19M050962
  • GC19M050979
  • GC19M050978
  • GC19M046286
  • GC19M042714

Summaries for DMWD Gene

GeneCards Summary for DMWD Gene

DMWD (Dystrophia Myotonica, WD Repeat Containing) is a Protein Coding gene. Diseases associated with DMWD include Myotonic Dystrophy 1. An important paralog of this gene is WDR20.

UniProtKB/Swiss-Prot for DMWD Gene

  • Could have a regulatory function in meiosis.

Gene Wiki entry for DMWD Gene

No data available for Entrez Gene Summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMWD Gene

Genomics for DMWD Gene

Regulatory Elements for DMWD Gene

Enhancers for DMWD Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F045861 1 Ensembl ENCODE 27.4 -71.8 -71787 5.7 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 DMWD ENSG00000267395 ENSG00000268810 ENSG00000259605 RPS16P9 SYMPK SLC1A5 EXOC3L2 IRF2BP1 MYPOP
GH19F045690 0.6 ENCODE 20.1 +100.3 100330 3.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1 CBX5 ENSG00000267395 DMWD ENSG00000268810 SNRPD2 CCDC61 QPCTL SIX5 FBXO46 BHMG1 EML2
GH19F045089 0.2 ENCODE 19.3 +700.4 700410 5.3 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF180 CCDC61 ZNF224 ZNF234 ZNF225 ENSG00000269148 GEMIN7 FBXO46 CEACAM19 DMWD
GH19F045798 1 Ensembl ENCODE 17.6 -6.9 -6947 1.7 PKNOX1 KLF17 ZNF2 RAD21 ZEB1 GLIS2 ZNF143 FOS EGR2 ZNF654 DMWD SIX5 SYMPK FOXA3 GC19M045805 PIR50651
GH19F045779 0.7 ENCODE 17.5 +10.1 10087 7.3 HDGF PKNOX1 GLIS2 ZNF143 FOS SP3 REST SMARCB1 SMARCA4 PBX2 DMWD DMPK ENSG00000267395 FKRP PRKD2 ENSG00000268434
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around DMWD on UCSC Golden Path with GeneCards custom track

Promoters for DMWD Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001419515 302 1801 HDGF PKNOX1 CREB3L1 ZNF133 ZFP64 ARID4B SIN3A ZNF48 YY1 GLIS2

Genomic Location for DMWD Gene

Chromosome:
19
Start:
45,782,947 bp from pter
End:
45,792,802 bp from pter
Size:
9,856 bases
Orientation:
Minus strand

Genomic View for DMWD Gene

Genes around DMWD on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DMWD Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DMWD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMWD Gene

Proteins for DMWD Gene

  • Protein details for DMWD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q09019-DMWD_HUMAN
    Recommended name:
    Dystrophia myotonica WD repeat-containing protein
    Protein Accession:
    Q09019

    Protein attributes for DMWD Gene

    Size:
    674 amino acids
    Molecular mass:
    70438 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • May have a role in the development of mental symptoms in severe cases of myotonic dystrophy.

neXtProt entry for DMWD Gene

Post-translational modifications for DMWD Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for DMWD Gene

No data available for DME Specific Peptides for DMWD Gene

Domains & Families for DMWD Gene

Gene Families for DMWD Gene

Protein Domains for DMWD Gene

Suggested Antigen Peptide Sequences for DMWD Gene

Graphical View of Domain Structure for InterPro Entry

Q09019

UniProtKB/Swiss-Prot:

DMWD_HUMAN :
  • Contains 5 WD repeats.
Similarity:
  • Contains 5 WD repeats.
genes like me logo Genes that share domains with DMWD: view

Function for DMWD Gene

Molecular function for DMWD Gene

GENATLAS Biochemistry:
myotonin-protein kinase related (DMR-N9 homolog),including a locus control region (see LCR-DMWD)
UniProtKB/Swiss-Prot Function:
Could have a regulatory function in meiosis.

Gene Ontology (GO) - Molecular Function for DMWD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
genes like me logo Genes that share ontologies with DMWD: view
genes like me logo Genes that share phenotypes with DMWD: view

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DMWD Gene

Localization for DMWD Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for DMWD Gene COMPARTMENTS Subcellular localization image for DMWD gene
Compartment Confidence
cytosol 3
nucleus 2
cytoskeleton 1
endoplasmic reticulum 1
extracellular 1
golgi apparatus 1
lysosome 1
mitochondrion 1
peroxisome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for DMWD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
genes like me logo Genes that share ontologies with DMWD: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for DMWD Gene

Pathways & Interactions for DMWD Gene

SuperPathways for DMWD Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMWD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016579 protein deubiquitination IBA --
genes like me logo Genes that share ontologies with DMWD: view

No data available for Pathways by source and SIGNOR curated interactions for DMWD Gene

Transcripts for DMWD Gene

Unigene Clusters for DMWD Gene

Dystrophia myotonica, WD repeat containing:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for DMWD Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5a · 5b
SP1: -
SP2:
SP3: -

Relevant External Links for DMWD Gene

GeneLoc Exon Structure for
DMWD
ECgene alternative splicing isoforms for
DMWD

Expression for DMWD Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DMWD Gene

Protein differential expression in normal tissues from HIPED for DMWD Gene

This gene is overexpressed in Heart (23.9), Platelet (12.4), Brain (9.8), Frontal cortex (8.1), and Fetal Brain (7.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for DMWD Gene



Protein tissue co-expression partners for DMWD Gene

NURSA nuclear receptor signaling pathways regulating expression of DMWD Gene:

DMWD

SOURCE GeneReport for Unigene cluster for DMWD Gene:

Hs.515474

mRNA Expression by UniProt/SwissProt for DMWD Gene:

Q09019-DMWD_HUMAN
Tissue specificity: Strongest expression in brain, liver, and testis. Also expressed in kidney and spleen.
genes like me logo Genes that share expression patterns with DMWD: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for DMWD Gene

Orthologs for DMWD Gene

This gene was present in the common ancestor of animals.

Orthologs for DMWD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia DMWD 34 35
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia DMWD 34
  • 90.45 (n)
cow
(Bos Taurus)
Mammalia DMWD 34 35
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Dmwd 34
  • 84.99 (n)
mouse
(Mus musculus)
Mammalia Dmwd 34 16 35
  • 84.82 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 67 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC571996 34
  • 64.06 (n)
CABZ01113899.1 35
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6420 35
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wdr-20 35
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for DMWD was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for DMWD Gene

ENSEMBL:
Gene Tree for DMWD (if available)
TreeFam:
Gene Tree for DMWD (if available)

Paralogs for DMWD Gene

Paralogs for DMWD Gene

(2) SIMAP similar genes for DMWD Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with DMWD: view

Variants for DMWD Gene

Sequence variations from dbSNP and Humsavar for DMWD Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111350352 -- 45,784,639(+) GTCCT(A/C)CCTCT splice-donor-variant
rs112146489 -- 45,790,076(+) AACCC(A/G)GGAGG intron-variant
rs112728052 -- 45,784,638(+) AGTCC(G/T)ACCTC intron-variant
rs112831604 -- 45,785,388(+) CCCTC(C/T)TTCTG intron-variant
rs114137207 -- 45,788,884(+) AGATC(A/G)TACCA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for DMWD Gene

Variant ID Type Subtype PubMed ID
nsv579870 CNV loss 21841781

Variation tolerance for DMWD Gene

Residual Variation Intolerance Score: 11.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.48; 28.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for DMWD Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
DMWD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DMWD Gene

Disorders for DMWD Gene

MalaCards: The human disease database

(1) MalaCards diseases for DMWD Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myotonic dystrophy 1
  • myotonic dystrophy type 1
- elite association - COSMIC cancer census association via MalaCards
Search DMWD in MalaCards View complete list of genes associated with diseases

Relevant External Links for DMWD

Genetic Association Database (GAD)
DMWD
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
DMWD
genes like me logo Genes that share disorders with DMWD: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DMWD Gene

Publications for DMWD Gene

  1. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4 64
  2. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. (PMID: 10400997) Alwazzan M. … Brook J.D. (Hum. Mol. Genet. 1999) 3 46 64
  3. Genomic organization and transcriptional units at the myotonic dystrophy locus. (PMID: 7905855) Shaw D.J. … Brook J.D. (Genomics 1993) 3 4 64
  4. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. (PMID: 8499920) Mahadevan M.S. … Korneluk R.G. (Hum. Mol. Genet. 1993) 3 4 64
  5. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. (PMID: 1302022) Jansen G. … Wieringa B. (Nat. Genet. 1992) 2 3 64

Products for DMWD Gene

Sources for DMWD Gene

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