Gene Gene information from NCBI Gene database.
Entrez ID 1762
Gene name DM1 locus, WD repeat containing
Gene symbol DMWD
Synonyms (NCBI Gene)
D19S593EDMR-N9DMRN9gene59
Chromosome 19
Chromosome location 19q13.32
miRNA miRNA information provided by mirtarbase database.
366
miRTarBase ID miRNA Experiments Reference
MIRT047468 hsa-miR-10b-5p CLASH 23622248
MIRT047072 hsa-miR-183-5p CLASH 23622248
MIRT046591 hsa-miR-222-3p CLASH 23622248
MIRT038872 hsa-miR-93-3p CLASH 23622248
MIRT709705 hsa-miR-4459 HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 33844468
GO:0005634 Component Nucleus IDA 33844468
GO:0005634 Component Nucleus IEA
GO:0005737 Component Cytoplasm IDA 33844468
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609857 2936 ENSG00000185800
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q09019
Protein name Dystrophia myotonica WD repeat-containing protein (Dystrophia myotonica-containing WD repeat motif protein) (Protein 59) (Protein DMR-N9)
Protein function Regulator of the deubiquitinating USP12/DMWD/WDR48 complex (PubMed:33844468). Functions as a cofactor that promotes USP12 enzymatic activity (PubMed:33844468).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00400 WD40 275 312 WD domain, G-beta repeat Repeat
PF00400 WD40 321 354 WD domain, G-beta repeat Repeat
Sequence
MAAGGAEGGSGPGAAMGDCAEIKSQFRTREGFYKLLPGDGAARRSGPASAQTPVPPQPPQ
PPPGPASASGPGAAGPASSPPPAGPGPGPALPAVRLSLVRLGEPDSAGAGEPPATPAGLG
SGGDRVCFNLGRELYFYPGCCRRGSQRSIDLNKPIDKRIYKGTQPTCHDFNQFTAATETI
SLLVGFSAGQVQYLDLIKKDTSKLFNEERLIDKTKVTYLKWLPESESLFLASHASGHLYL
YNVSHPCASAPPQYSLLKQGEGFSVYAAKSKAPRNPLAKWAVGEGPLNEFAFSPDGRHLA
CVSQDGCLRVFH
FDSMLLRGLMKSYFGGLLCVCWSPDGRYVVTGGEDDLVTVWSFTEGRV
VARGHGHKSWVNAVAFDPYTTRAEEAATAAGADGERSGEEEEEEPEAAGTGSAGGAPLSP
LPKAGSITYRFGSAGQDTQFCLWDLTEDVLYPHPPLARTRTLPGTPGTTPPAASSSRGGE
PGPGPLPRSLSRSNSLPHPAGGGKAGGPGVAAEPGTPFSIGRFATLTLQERRDRGAEKEH
KRYHSLGNISRGGSGGSGSGGEKPSGPVPRSRLDPAKVLGTALCPRIHEVPLLEPLVCKK
IAQERLTVLLFLEDCIITACQEGLICTWARPGKAFTDEETEAQTGEGSWPRSPSKSVVEG
ISSQPGNSPSGTVV
Sequence length 674
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
3
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CHRONIC OBSTRUCTIVE PULMONARY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DMWD-related disorder Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
RESPIRATORY SYSTEM DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Myotonic Dystrophy Associate 33844468
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 33844468
★☆☆☆☆
Found in Text Mining only