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Aliases for DMWD Gene

Aliases for DMWD Gene

  • DM1 Locus, WD Repeat Containing 2 3 5
  • Dystrophia Myotonica-Containing WD Repeat Motif Protein 3 4
  • Dystrophia Myotonica, WD Repeat Containing 2 3
  • 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 (DM1 Locus, WD Repeat Containing) is a Protein Coding gene. An important paralog of this gene is WDR20.

Gene Wiki entry for DMWD Gene

Additional gene information for DMWD Gene

No data available for Entrez Gene Summary , CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DMWD Gene

Genomics for DMWD Gene

GeneHancer (GH) Regulatory Elements for DMWD Gene

Promoters and enhancers for DMWD Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19I045790 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 561.4 +0.6 571 2.8 HDGF PKNOX1 ZFP64 ARID4B SIN3A ZBTB7B ZNF48 YY1 GLIS2 ELK1 DMWD CCDC61 DMPK SYMPK ENSG00000259605 GC19M045789
GH19I045861 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 27.4 -71.8 -71787 5.7 MLX FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC SYMPK FOXA3 ENSG00000268810 DMWD CCDC61 CLASRP ENSG00000267114 SLC1A5 FBXO46 IRF2BP1
GH19I045763 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 16.9 +24.0 23960 10.2 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC DM1-AS SIX5 CCDC61 SYMPK FBXO46 ENSG00000268810 CLASRP ENSG00000267114 ENSG00000269148 DMWD
GH19I045779 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE dbSUPER 17.5 +10.1 10086 7.3 HDGF HNRNPUL1 PKNOX1 CLOCK FOXA2 SIN3A ZBTB7B E2F8 ZNF143 FOS DMPK CCDC61 CLASRP FBXO46 ENSG00000269148 DMWD IRF2BP1 SYMPK ENSG00000268810 ENSG00000267114
GH19I045814 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 16 -23.9 -23934 3.8 HDGF ATF1 ARNT ARID4B SIN3A ZNF2 ETS1 ZNF213 E2F8 ARID2 RSPH6A ENSG00000269148 CLASRP DMWD CCDC61 SYMPK FBXO46 ENSG00000268810 DMPK
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DMWD on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the DMWD gene promoter:

Genomic Locations for DMWD Gene

Genomic Locations for DMWD Gene
chr19:45,782,947-45,792,802
(GRCh38/hg38)
Size:
9,856 bases
Orientation:
Minus strand
chr19:46,286,205-46,296,060
(GRCh37/hg19)

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

neXtProt entry for DMWD Gene

Post-translational modifications for DMWD Gene

No Post-translational modifications

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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for DMWD Gene

Graphical View of Domain Structure for InterPro Entry

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

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

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)

Phenotypes From GWAS Catalog for DMWD Gene

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

Clone 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 UniProtKB/Swiss-Prot for DMWD Gene

Perikaryon. Cell projection, dendrite. Nucleus. Note=In neurons, shows punctate expression throughout the cell body, nucleus and dendrites. Not detected in axons. {ECO:0000250 UniProtKB:Q08274}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DMWD gene
Compartment Confidence
nucleus 4
cytosol 3
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Actin filaments (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DMWD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005634 nucleus IEA --
GO:0030425 dendrite IEA --
GO:0042995 cell projection IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with DMWD: view

Pathways & Interactions 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

Drugs & Compounds for DMWD Gene

No Compound Related Data Available

Transcripts for DMWD Gene

Unigene Clusters for DMWD Gene

Dystrophia myotonica, WD repeat containing:
Representative Sequences:

Clone 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 CGAP 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

Evidence on tissue expression from TISSUES for DMWD Gene

  • Nervous system(4.4)
  • Liver(4.2)
genes like me logo Genes that share expression patterns with DMWD: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33 34
  • 99.21 (n)
dog
(Canis familiaris)
Mammalia DMWD 33
  • 90.45 (n)
cow
(Bos Taurus)
Mammalia DMWD 33 34
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Dmwd 33
  • 84.99 (n)
mouse
(Mus musculus)
Mammalia Dmwd 33 16 34
  • 84.82 (n)
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 67 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii LOC571996 33
  • 64.06 (n)
CABZ01113899.1 34
  • 57 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG6420 34
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wdr-20 34
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000180256 -- 45,784,098(-) C/T 3_prime_UTR_variant
rs1000721213 -- 45,787,205(-) T/C intron_variant
rs1001322390 -- 45,789,845(-) A/T intron_variant
rs1001401555 -- 45,784,950(-) C/T intron_variant
rs1001637903 -- 45,783,798(-) A/G 3_prime_UTR_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)

Additional Variant Information 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

Additional Disease Information for DMWD

No disorders were found for DMWD Gene.

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

Publications for DMWD Gene

  1. Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis. (PMID: 27991661) Santoro M … Botta A (Clinical genetics 2017) 2 3 58
  2. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J … Lucas SM (Nature 2004) 3 4 58
  3. Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat. (PMID: 10400997) Alwazzan M … Brook JD (Human molecular genetics 1999) 3 44 58
  4. Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene. (PMID: 8499920) Mahadevan MS … Lamerdin J (Human molecular genetics 1993) 3 4 58
  5. Genomic organization and transcriptional units at the myotonic dystrophy locus. (PMID: 7905855) Shaw DJ … Harper PS (Genomics 1993) 3 4 58

Products for DMWD Gene

Sources for DMWD Gene

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