DMWD

Summary

DMWD (DM1 locus, WD repeat containing, HGNC:2936) is a protein-coding gene on chromosome 19q13.32, encoding Dystrophia myotonica WD repeat-containing protein (Q09019). Regulator of the deubiquitinating USP12/DMWD/WDR48 complex.

Enables deubiquitinase activator activity. Located in cytoplasm and nucleus.

Source: NCBI Gene 1762 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 117 total
• MANE Select transcript: NM_004943

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:2936
Approved symbol	DMWD
Name	DM1 locus, WD repeat containing
Location	19q13.32
Locus type	gene with protein product
Status	Approved
Aliases	DMR-N9, gene59, D19S593E
Ensembl gene	ENSG00000185800
Ensembl biotype	protein_coding
OMIM	609857
Entrez	1762

Gene structure

Transcript identifiers

Ensembl transcripts: 9 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000270223, ENST00000377735, ENST00000537879, ENST00000597053, ENST00000598237, ENST00000601370, ENST00000602469, ENST00000602829, ENST00000962934

RefSeq mRNA: 1 — MANE Select: NM_004943 NM_004943

CCDS: CCDS33054

Canonical transcript exons

ENST00000270223 — 5 exons

Exon	Start	End
ENSE00002210498	45785594	45786871
ENSE00002296123	45782947	45784290
ENSE00003636280	45784641	45784715
ENSE00003659232	45790905	45791087
ENSE00003843978	45792316	45792845

Expression profiles

Bgee: expression breadth ubiquitous, 237 present calls, max score 94.94.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 10.6839 / max 93.4990, expressed in 1727 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
181573	5.3743	1666
181572	5.1316	1585
181574	0.1780	82

Top tissues by expression

288 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
apex of heart	UBERON:0002098	94.94	gold quality
lower esophagus muscularis layer	UBERON:0035833	93.79	gold quality
lower esophagus	UBERON:0013473	93.73	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	93.70	gold quality
popliteal artery	UBERON:0002250	93.62	gold quality
tibial artery	UBERON:0007610	93.61	gold quality
right atrium auricular region	UBERON:0006631	93.46	gold quality
olfactory bulb	UBERON:0002264	93.39	gold quality
right coronary artery	UBERON:0001625	93.28	gold quality
aorta	UBERON:0000947	93.23	gold quality
gastrocnemius	UBERON:0001388	93.17	gold quality
right frontal lobe	UBERON:0002810	92.92	gold quality
body of uterus	UBERON:0009853	92.90	gold quality
descending thoracic aorta	UBERON:0002345	92.89	gold quality
mucosa of stomach	UBERON:0001199	92.86	gold quality
ascending aorta	UBERON:0001496	92.83	gold quality
thoracic aorta	UBERON:0001515	92.83	gold quality
left coronary artery	UBERON:0001626	92.79	gold quality
coronary artery	UBERON:0001621	92.75	gold quality
heart left ventricle	UBERON:0002084	92.50	gold quality
muscle of leg	UBERON:0001383	92.47	gold quality
type B pancreatic cell	CL:0000169	92.44	gold quality
cardiac atrium	UBERON:0002081	92.37	gold quality
left uterine tube	UBERON:0001303	92.26	gold quality
hindlimb stylopod muscle	UBERON:0004252	92.18	gold quality
cingulate cortex	UBERON:0003027	92.17	gold quality
muscle layer of sigmoid colon	UBERON:0035805	92.13	gold quality
cardiac ventricle	UBERON:0002082	92.12	gold quality
anterior cingulate cortex	UBERON:0009835	92.08	gold quality
prefrontal cortex	UBERON:0000451	91.73	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	155.81
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

87 targeting DMWD, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-5692A	100.00	74.40	6850
HSA-MIR-4747-5P	100.00	67.90	2681
HSA-MIR-5196-5P	100.00	67.98	2761
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-6870-5P	99.99	68.55	2115
HSA-MIR-4723-5P	99.97	68.70	2034
HSA-MIR-5698	99.97	68.49	2029
HSA-MIR-7111-5P	99.97	68.48	2062
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-4725-3P	99.96	69.53	2520
HSA-MIR-6780B-5P	99.96	69.60	2562
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-141-3P	99.94	72.79	2421
HSA-MIR-200A-3P	99.94	72.68	2420
HSA-MIR-4525	99.94	64.38	675
HSA-MIR-5010-5P	99.94	64.11	705
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-4271	99.88	68.32	2244
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-4728-5P	99.85	69.39	4718
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-6785-5P	99.82	68.68	4428
HSA-MIR-6756-5P	99.82	67.97	2466
HSA-MIR-374C-5P	99.80	72.06	2910
HSA-MIR-655-3P	99.80	72.19	2909

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	DMWD	ENSDARG00000006585
mus_musculus	Dmwd	ENSMUSG00000030410
rattus_norvegicus	Dmwd	ENSRNOG00000014984
drosophila_melanogaster	CG6420	FBGN0039451
caenorhabditis_elegans		WBGENE00007428

Paralogs (1): WDR20 (ENSG00000140153)

Protein

Protein identifiers

Dystrophia myotonica WD repeat-containing protein — Q09019 (reviewed: Q09019)

Alternative names: Dystrophia myotonica-containing WD repeat motif protein, Protein 59, Protein DMR-N9

All UniProt accessions (6): G5E9A7, Q09019, H0YGU4, R4GMW3, R4GMZ4, R4GN01

UniProt curated annotations — full annotation on UniProt →

Function. Regulator of the deubiquitinating USP12/DMWD/WDR48 complex. Functions as a cofactor that promotes USP12 enzymatic activity.

Subunit / interactions. Component of the USP12/DMWD/WDR48 deubiquitinating complex. Interacts with USP12; promotes its enzymatic activity. Interacts with USP46.

Subcellular location. Cytoplasm. Nucleus. Perikaryon. Cell projection. Dendrite.

RefSeq proteins (1): NP_004934* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR051362	WD_repeat_creC_regulators	Family

Pfam: PF00400

UniProt features (31 total): compositionally biased region 9, region of interest 6, repeat 6, modified residue 3, sequence conflict 3, mutagenesis site 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q09019-F1	69.73	0.47

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (3): 2, 495, 551

Mutagenesis-validated functional residues (2):

Position	Phenotype
326	impairs binding to usp12.
370	impairs binding to usp12.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 140 (showing top): GOBP_NEGATIVE_REGULATION_OF_PROTEOLYSIS, XU_HGF_TARGETS_REPRESSED_BY_AKT1_DN, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, HERNANDEZ_MITOTIC_ARREST_BY_DOCETAXEL_2_UP, GOBP_REGULATION_OF_CATABOLIC_PROCESS, KOYAMA_SEMA3B_TARGETS_UP, BLALOCK_ALZHEIMERS_DISEASE_UP, GOBP_NEGATIVE_REGULATION_OF_PROTEIN_METABOLIC_PROCESS, GOCC_NEURON_PROJECTION, MODULE_48, MODULE_95, GOBP_REGULATION_OF_PROTEOLYSIS, GOBP_PROTEIN_CATABOLIC_PROCESS, DEURIG_T_CELL_PROLYMPHOCYTIC_LEUKEMIA_UP, GOBP_NEGATIVE_REGULATION_OF_CATABOLIC_PROCESS

GO Biological Process (0):

GO Molecular Function (2): deubiquitinase activator activity (GO:0035800), protein binding (GO:0005515)

GO Cellular Component (5): nucleus (GO:0005634), cytoplasm (GO:0005737), dendrite (GO:0030425), perikaryon (GO:0043204), cell projection (GO:0042995)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
peptidase activator activity	1
deubiquitinase activity	1
binding	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1
neuron projection	1
dendritic tree	1
neuronal cell body	1

Protein interactions and networks

STRING

1890 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DMWD	RSPH6A	Q9H0K4	885
DMWD	SIX5	Q8N196	855
DMWD	DMPK	Q09013	760
DMWD	LARS1	Q9P2J5	668
DMWD	USP12	O75317	662
DMWD	USP46	P62068	649
DMWD	MBNL1	Q9NR56	644
DMWD	ADISSP	Q9GZN8	627
DMWD	CLCN1	P35523	625
DMWD	WDR48	Q8TAF3	598
DMWD	RPS14	P06366	585
DMWD	FBXL7	Q9UJT9	584
DMWD	ATP2A1	O14983	573
DMWD	SLC35F6	Q8N357	511
DMWD	RYR1	P21817	500

IntAct

66 interactions, top by confidence:

A	B	Type	Score
PHLPP2	NHERF1	psi-mi:“MI:0914”(association)	0.760
USP46	PHLPP1	psi-mi:“MI:0914”(association)	0.740
YWHAH	PLEKHG3	psi-mi:“MI:0914”(association)	0.610
ALDH3B1	UBA6	psi-mi:“MI:0914”(association)	0.530
BCAT1	ARNT	psi-mi:“MI:0914”(association)	0.530
DMWD	GAK	psi-mi:“MI:0914”(association)	0.530
ALOX5	DDHD2	psi-mi:“MI:0914”(association)	0.530
APBA2	HERC2	psi-mi:“MI:0914”(association)	0.530
GPR3	APOD	psi-mi:“MI:0914”(association)	0.530
ZNF581	DMWD	psi-mi:“MI:0914”(association)	0.530
YWHAQ	IGLC7	psi-mi:“MI:0914”(association)	0.530
YWHAZ	BLTP3B	psi-mi:“MI:0914”(association)	0.530
CAPN2	MYO9A	psi-mi:“MI:0914”(association)	0.530
GNAZ	MTHFR	psi-mi:“MI:0914”(association)	0.530
YWHAB	PLEKHG3	psi-mi:“MI:0914”(association)	0.480
DMWD	HSPA8	psi-mi:“MI:0915”(physical association)	0.400
DMWD	NUDC	psi-mi:“MI:0915”(physical association)	0.400
DMWD	CCR2	psi-mi:“MI:0915”(physical association)	0.370
Xpo1	IFT56	psi-mi:“MI:0914”(association)	0.350
ARHGAP25	UBA6	psi-mi:“MI:0914”(association)	0.350
RAB2B	UBA6	psi-mi:“MI:0914”(association)	0.350
GNAZ	FAM171A2	psi-mi:“MI:0914”(association)	0.350
WDFY3	DPYSL4	psi-mi:“MI:0914”(association)	0.350

BioGRID (145): DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), FEM1B (Affinity Capture-MS), GAK (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), DMWD (Affinity Capture-MS), WDR6 (Affinity Capture-MS), TKT (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JUG7, A1YER5, A1YFY1, A2T6X5, B2DD29, C0HBT3, O08629, O15156, O15169, O35730, O95343, P28702, P28704, P29353, P50241, P98083, Q06587, Q08274, Q09019, Q0IHB0, Q13263, Q2V2M9, Q2YDU3, Q3U1V8, Q3U2S4, Q4KMP7, Q5DU25, Q5JU85, Q5PRF9, Q5R7W7, Q5RBI7, Q5RJI5, Q5TJF3, Q5TJF7, Q62233, Q62318, Q66J69, Q68DC2, Q6MGB6, Q6ZRS2

Diamond homologs: A1CTE6, A1DMI8, A2QVV2, B0Y7H6, B8N4F5, D9N129, P16649, P56094, Q08274, Q09019, Q0CKB1, Q10437, Q2HJH6, Q2UM42, Q4WN25, Q5RF51, Q5XIG8, Q6ZMW3, Q8TBZ3, Q96DI7, Q9P4R5, Q9VBC4, Q9Y3F4, Q9Z1Z2, O22469, Q5ZL33, C4R6H3, C4YFX2, P0CY34, P16371, Q00664, Q5M786, Q5RE95, Q5SQM0, Q6ED65, Q6PE01, Q86VZ2, Q9SY00, Q5ACW8, Q9UT85

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	80.1×	1e-08
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	70.7×	1e-08
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	70.7×	1e-08
Activation of BH3-only proteins	6	52.3×	7e-08
Intrinsic Pathway for Apoptosis	7	36.0×	5e-08
RHO GTPases activate PKNs	6	33.4×	7e-07
SARS-CoV-1-host interactions	7	21.6×	1e-06
Apoptosis	7	20.6×	1e-06

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	5	25.8×	9e-04
intracellular protein localization	7	10.3×	2e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

117 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	1
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

838 predictions. Top by Δscore:

Variant	Effect	Δscore
19:45785586:CCACT:C	donor_loss	1.0000
19:45785587:CACTC:C	donor_loss	1.0000
19:45785588:ACTCA:A	donor_loss	1.0000
19:45785589:CT:C	donor_loss	1.0000
19:45785592:A:AC	donor_gain	1.0000
19:45785592:A:C	donor_loss	1.0000
19:45785592:ACCG:A	donor_gain	1.0000
19:45785593:C:CC	donor_gain	1.0000
19:45785593:CCG:C	donor_gain	1.0000
19:45785593:CCGC:C	donor_gain	1.0000
19:45790900:ATCAC:A	donor_loss	1.0000
19:45790901:TCA:T	donor_loss	1.0000
19:45790902:CACCT:C	donor_loss	1.0000
19:45790903:ACCT:A	donor_gain	1.0000
19:45790904:CCTC:C	donor_gain	1.0000
19:45790906:T:TA	donor_gain	1.0000
19:45790960:TG:T	donor_gain	1.0000
19:45791088:C:CC	acceptor_gain	1.0000
19:45791089:T:C	acceptor_gain	1.0000
19:45791089:T:TC	acceptor_gain	1.0000
19:45784063:A:AC	donor_gain	0.9900
19:45784716:C:CC	acceptor_gain	0.9900
19:45785585:GCCAC:G	donor_loss	0.9900
19:45785592:ACCGC:A	donor_gain	0.9900
19:45785593:CCGCC:C	donor_gain	0.9900
19:45785631:T:TA	donor_gain	0.9900
19:45786869:CCG:C	acceptor_gain	0.9900
19:45786870:CG:C	acceptor_gain	0.9900
19:45786870:CGC:C	acceptor_gain	0.9900
19:45786876:C:CT	acceptor_gain	0.9900

AlphaMissense

4305 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:45785612:C:A	W628C	1.000
19:45785612:C:G	W628C	1.000
19:45785613:C:G	W628S	1.000
19:45785614:A:G	W628R	1.000
19:45785614:A:T	W628R	1.000
19:45785622:A:T	I625N	1.000
19:45785628:C:A	G623V	1.000
19:45785628:C:T	G623D	1.000
19:45785629:C:A	G623C	1.000
19:45785629:C:G	G623R	1.000
19:45785640:G:T	A619D	1.000
19:45785649:A:T	I616N	1.000
19:45785663:G:C	F611L	1.000
19:45785663:G:T	F611L	1.000
19:45785664:A:C	F611C	1.000
19:45785664:A:G	F611S	1.000
19:45785665:A:C	F611V	1.000
19:45785665:A:G	F611L	1.000
19:45785665:A:T	F611I	1.000
19:45785670:A:G	L609P	1.000
19:45785670:A:T	L609H	1.000
19:45785679:A:G	L606P	1.000
19:45785679:A:T	L606H	1.000
19:45785699:C:A	K599N	1.000
19:45785699:C:G	K599N	1.000
19:45785712:G:T	P595H	1.000
19:45785746:A:G	C584R	1.000
19:45786162:A:G	L445P	1.000
19:45786167:C:A	W443C	1.000
19:45786167:C:G	W443C	1.000

dbSNP variants (sampled 300 via entrez): RS1000180256 (19:45784098 C>T), RS1000219437 (19:45782465 TCCCTGGCTGTC>T), RS1000721213 (19:45787205 T>C), RS1001322390 (19:45789845 A>T), RS1001401555 (19:45784950 C>T), RS1001637903 (19:45783798 A>G), RS1001985162 (19:45789203 T>C), RS1002444261 (19:45790819 C>A,T), RS1002862974 (19:45793815 T>C), RS1003044652 (19:45788834 T>C), RS1003188361 (19:45794141 T>G), RS1003311814 (19:45782657 G>C), RS1003829997 (19:45793954 C>A,T), RS1004226223 (19:45785002 C>G), RS1004308139 (19:45783148 A>T)

Disease associations

OMIM: gene MIM:609857 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST007612_3	Chronic obstructive pulmonary disease or coronary artery disease (pleiotropy)	1.000000e-08
GCST007692_85	Chronic obstructive pulmonary disease	2.000000e-09
GCST008162_95	Hip circumference	2.000000e-06
GCST010204_21	Low density lipoprotein cholesterol levels	2.000000e-45
GCST010243_168	Apolipoprotein B levels	1.000000e-68

EFO canonical traits (2, from GWAS)

EFO ID	Trait name
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004615	apolipoprotein B measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

CTD chemical–gene interactions

25 total (human), top 25 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases abundance, increases expression	3
Arsenic	increases expression, increases abundance	2
aristolochic acid I	increases expression	1
FR900359	decreases phosphorylation	1
dicrotophos	increases expression	1
triphenyl phosphate	affects expression	1
sodium arsenate	increases abundance, increases expression	1
beta-lapachone	decreases expression	1
coumarin	decreases phosphorylation	1
Am 580	decreases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Irinotecan	increases expression	1
Rosiglitazone	decreases expression	1
Benzo(a)pyrene	increases methylation	1
Caffeine	decreases phosphorylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Selenium	increases expression	1
Smoke	decreases expression	1
Dronabinol	increases expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	increases expression	1
Sodium Selenite	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.