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Aliases for DMWD Gene

Aliases for DMWD Gene

  • Dystrophia Myotonica, WD Repeat Containing 2 3
  • Dystrophia Myotonica-Containing WD Repeat Motif Protein 3 4
  • Protein 59 3 4
  • DMRN9 3 6
  • 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
  • DM9 4

External Ids for DMWD Gene

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

Genomic Location for DMWD Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for DMWD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DMWD Gene

Regulatory Elements 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
    Secondary Accessions:

    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

Proteomics data for DMWD Gene at MOPED

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 for DMWD Gene

Gene Families for DMWD Gene

HGNC:
  • WDR :WD repeat domain containing

Protein Domains for DMWD Gene

UniProtKB/Swiss-Prot:

DMWD_HUMAN
Similarity:
  • Contains 5 WD repeats.:
    • Q09019
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 --
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with DMWD: view

miRNA for DMWD Gene

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , Transcription Factor Targeting 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

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

Pathways for DMWD Gene

SuperPathways for DMWD Gene

No Data Available

Gene Ontology (GO) - Biological Process for DMWD Gene

None

No data available for Pathways by source for DMWD Gene

Transcripts for DMWD Gene

Unigene Clusters for DMWD Gene

Dystrophia myotonica, WD repeat containing:
Representative Sequences:

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 for DMWD Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for DMWD Gene

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 expressions with DMWD: view

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 36
  • 99.21 (n)
  • 99.55 (a)
DMWD 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia DMWD 36
  • 89.99 (n)
  • 94.82 (a)
DMWD 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DMWD 36
  • 90.45 (n)
  • 95.43 (a)
mouse
(Mus musculus)
Mammalia Dmwd 36
  • 84.82 (n)
  • 90.77 (a)
Dmwd 16
Dmwd 37
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dmwd 36
  • 84.99 (n)
  • 90.04 (a)
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 67 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii CABZ01113899.1 37
  • 57 (a)
OneToMany
LOC571996 36
  • 64.06 (n)
  • 64.38 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6420 37
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea wdr-20 37
  • 30 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
Species with no ortholog for DMWD:
  • 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

Selected 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 MAF
rs965373 -- 45,793,110(+) TTTTT(C/T)CCCCC upstream-variant-2KB
rs1865116 -- 45,791,252(+) GGGAA(A/G)GGGAC intron-variant
rs3760843 -- 45,785,448(+) CTTGT(A/T)CTGAG intron-variant
rs4630667 -- 45,790,316(+) aaaaa(A/G)aaaaa intron-variant
rs7246377 -- 45,789,001(+) TTTCA(A/G)TATCA intron-variant

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

Variant ID Type Subtype PubMed ID
dgv3954n71 CNV Loss 21882294
nsv912166 CNV Loss 21882294
dgv3956n71 CNV Loss 21882294
dgv3957n71 CNV Loss 21882294
nsv912170 CNV Loss 21882294

Relevant External Links for DMWD Gene

HapMap Linkage Disequilibrium report
DMWD

Disorders for DMWD Gene

(1) MalaCards Diseases for DMWD Gene

Search for DMWD Gene in MalaCards »

(1) University of Copenhagen DISEASES for DMWD Gene

Relevant External Links for DMWD

Genetic Association Database (GAD)
DMWD
genes like me logo Genes that share disorders with DMWD: view

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

Publications for DMWD Gene

  1. Genomic organization and transcriptional units at the myotonic dystrophy locus. (PMID: 7905855) Shaw D.J. … Brook J.D. (Genomics 1993) 3 4
  2. 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
  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 J.D. (Hum. Mol. Genet. 1999) 3 49
  4. The DNA sequence and biology of human chromosome 19. (PMID: 15057824) Grimwood J. … Lucas S.M. (Nature 2004) 3 4
  5. Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs. (PMID: 1302022) Jansen G. … Wieringa B. (Nat. Genet. 1992) 2 3

Products for DMWD Gene

Sources for DMWD Gene

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