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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DMWD
DM1 locus, WD repeat containing
Chromosome 19 · 19q13.32
NCBI Gene: 1762Ensembl: ENSG00000185800.13HGNC: HGNC:2936UniProt: Q09019
36PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingdeubiquitinase activator activitynucleuscytoplasmcoronary artery diseasechronic obstructive pulmonary diseasemyocardial infarctionrespiratory system disease
✦AI Summary

DMWD is a WD repeat-containing protein that functions as a regulatory cofactor in the deubiquitinating USP12/DMWD/WDR48 complex, promoting USP12 enzymatic activity and suppressing ubiquitin-dependent protein degradation 1. The protein is ubiquitously expressed across adult tissues with prominent abundance in testes and brain, showing developmental regulation with increased protein levels during postnatal brain development 2. Within neural cells, DMWD localizes to the cytoplasm, nucleus, and dendritic synapses, concentrating in synapse-dense brain regions 2. DMWD is located upstream of the DMPK gene in the myotonic dystrophy (DM1) locus on chromosome 19. Altered DMWD expression has been observed in DM1 patients, suggesting involvement in disease manifestation, though CTG repeat expansion shows variable effects on DMWD expression compared to neighboring genes 3. Recent functional studies identified DMWD as a neuroprotective candidate that can rescue behavioral deficits and reduce tau protein accumulation in Alzheimer disease models 4, indicating broader neurobiological significance beyond DM1. In DM1 pathophysiology, dosage reduction of DMWD alongside mutations in other locus genes (DMPK, SIX5, MBNL1) contributes to multisystem manifestations, with quadruple heterozygous mutations recapitulating congenital DM1 phenotypes 5. These findings suggest DMWD participates in both normal neural function and disease pathways.

Sources cited
1
DMWD functions as a cofactor regulating USP12 deubiquitinating complex activity
PMID: 33844468
2
DMWD is developmentally regulated, abundant in brain and testes, and localizes to synapses and neural compartments
PMID: 12691844
3
CTG repeat expansion affects chromatin structure and has variable effects on DMWD expression compared to DMPK
PMID: 11592825
4
DMWD is neuroprotective in Alzheimer disease models, rescuing behavioral deficits and reducing tau protein
PMID: 40215969
5
DMWD dosage reduction contributes to DM1 multisystem manifestations when combined with mutations in other locus genes
PMID: 31853004
Disease Associationsⓘ20
coronary artery diseaseOpen Targets
0.19Weak
chronic obstructive pulmonary diseaseOpen Targets
0.17Weak
myocardial infarctionOpen Targets
0.14Weak
respiratory system diseaseOpen Targets
0.11Weak
asthmaOpen Targets
0.11Weak
cholelithiasisOpen Targets
0.10Weak
diabetic retinopathyOpen Targets
0.09Suggestive
hypertrophic cardiomyopathyOpen Targets
0.09Suggestive
gallstonesOpen Targets
0.08Suggestive
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
myotonic dystrophy type 1Open Targets
0.06Suggestive
MODYOpen Targets
0.06Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
adult onset asthmaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
USP46Protein interaction93%RSPH6AProtein interaction90%USP12Protein interaction88%SIX5Protein interaction86%DMPKProtein interaction81%WDR48Protein interaction75%
Tissue Expression6 tissues
Ovary
100%
Heart
83%
Lung
70%
Brain
56%
Liver
31%
Bone Marrow
29%
Gene Interaction Network
Click a node to explore
DMWDUSP46RSPH6AUSP12SIX5DMPKWDR48
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q09019
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.65LoF Tolerant
pLIⓘ
0.07Tolerant
Observed/Expected LoF0.44 [0.31–0.65]
RankingsWhere DMWD stands among ~20K protein-coding genes
  • #10,763of 20,598
    Most Researched36
  • #4,715of 17,882
    Most Constrained (LOEUF)0.65
Genes detectedDMWD
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The DMWD protein from the myotonic dystrophy (DM1) gene region is developmentally regulated and is present most prominently in synapse-dense brain areas.
PMID: 12691844
Brain Res · 2003
1.00
2
Real-time RT-PCR for CTG repeat-containing genes.
PMID: 15201450
Methods Mol Biol · 2004
0.90
3
Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease.
PMID: 40215969
Am J Hum Genet · 2025
0.80
4
Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy.
PMID: 11592825
Mol Genet Metab · 2001
0.70
5
Epigenetics of the myotonic dystrophy-associated DMPK gene neighborhood.
PMID: 26756355
Epigenomics · 2016
0.60