DPM3

Summary

DPM3 (dolichyl-phosphate mannosyltransferase subunit 3, regulatory, HGNC:3007) is a protein-coding gene on chromosome 1q22, encoding Dolichol-phosphate mannosyltransferase subunit 3 (Q9P2X0). Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum. It is a selective cancer dependency (DepMap: 17.1% of cell lines).

Dolichol-phosphate mannose (Dol-P-Man) serves as a donor of mannosyl residues on the lumenal side of the endoplasmic reticulum (ER). Lack of Dol-P-Man results in defective surface expression of GPI-anchored proteins. Dol-P-Man is synthesized from GDP-mannose and dolichol-phosphate on the cytosolic side of the ER by the enzyme dolichyl-phosphate mannosyltransferase. The protein encoded by this gene is a subunit of dolichyl-phosphate mannosyltransferase and acts as a stabilizer subunit of the dolichyl-phosphate mannosyltransferase complex.

Source: NCBI Gene 54344 — RefSeq curated summary.

At a glance

• Gene–disease (curated): DPM3-congenital disorder of glycosylation (Strong, GenCC)
• GWAS associations: 29
• Clinical variants (ClinVar): 79 total — 12 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 34
• Cancer dependency (DepMap): dependent in 17.1% of screened cell lines
• Dosage sensitivity (ClinGen): haploinsufficiency autosomal recessive, triplosensitivity no evidence
• MANE Select transcript: NM_153741

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3007
Approved symbol	DPM3
Name	dolichyl-phosphate mannosyltransferase subunit 3, regulatory
Location	1q22
Locus type	gene with protein product
Status	Approved
Aliases	MGC34275, MGC125904, MGC125905
Ensembl gene	ENSG00000179085
Ensembl biotype	protein_coding
OMIM	605951
Entrez	54344

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000341298, ENST00000368399, ENST00000368400, ENST00000936959, ENST00000936960

RefSeq mRNA: 2 — MANE Select: NM_153741 NM_018973, NM_153741

CCDS: CCDS1094, CCDS1095

Canonical transcript exons

ENST00000368400 — 2 exons

Exon	Start	End
ENSE00001447048	155139891	155140245
ENSE00001447049	155140491	155140531

Expression profiles

Bgee: expression breadth ubiquitous, 286 present calls, max score 97.88.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.7740 / max 200.2936, expressed in 1814 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
14902	23.7740	1814

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
mucosa of transverse colon	UBERON:0004991	97.88	gold quality
adenohypophysis	UBERON:0002196	97.83	gold quality
pituitary gland	UBERON:0000007	97.49	gold quality
left adrenal gland cortex	UBERON:0035825	97.40	gold quality
left adrenal gland	UBERON:0001234	97.26	gold quality
right adrenal gland	UBERON:0001233	97.25	gold quality
right uterine tube	UBERON:0001302	97.04	gold quality
right adrenal gland cortex	UBERON:0035827	97.04	gold quality
adrenal cortex	UBERON:0001235	96.98	gold quality
monocyte	CL:0000576	96.77	gold quality
body of pancreas	UBERON:0001150	96.76	gold quality
endocervix	UBERON:0000458	96.66	gold quality
right lobe of liver	UBERON:0001114	96.64	gold quality
right lobe of thyroid gland	UBERON:0001119	96.56	gold quality
left lobe of thyroid gland	UBERON:0001120	96.56	gold quality
hindlimb stylopod muscle	UBERON:0004252	96.36	gold quality
muscle layer of sigmoid colon	UBERON:0035805	96.36	gold quality
body of uterus	UBERON:0009853	96.35	gold quality
lower esophagus muscularis layer	UBERON:0035833	96.34	gold quality
lower esophagus	UBERON:0013473	96.33	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	96.23	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	96.20	gold quality
body of stomach	UBERON:0001161	96.16	gold quality
left uterine tube	UBERON:0001303	96.12	gold quality
transverse colon	UBERON:0001157	96.10	gold quality
mononuclear cell	CL:0000842	96.04	gold quality
apex of heart	UBERON:0002098	95.93	gold quality
thyroid gland	UBERON:0002046	95.92	gold quality
pancreatic ductal cell	CL:0002079	95.91	gold quality
leukocyte	CL:0000738	95.78	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	17.45
E-MTAB-7303	no	1973.91

Regulation

Is transcription factor: no

Functional genomics

ClinGen dosage: haploinsufficiency 30 (autosomal recessive), triplosensitivity 0 (no evidence). ClinGen Gene Dosage Map DepMap (CRISPR cell-line fitness): dependent in 17.1% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 2)

• Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. (PMID:30931530)
• A recurrent homozygous missense DPM3 variant leads to muscle and brain disease. (PMID:35932216)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	dpm3	ENSDARG00000058650
mus_musculus	Dpm3	ENSMUSG00000042737
rattus_norvegicus	Dpm3	ENSRNOG00000029077
rattus_norvegicus		ENSRNOG00000086733
drosophila_melanogaster	Dpm3	FBGN0053977
caenorhabditis_elegans		WBGENE00009219

Protein

Protein identifiers

Dolichol-phosphate mannosyltransferase subunit 3 — Q9P2X0 (reviewed: Q9P2X0)

Alternative names: Dolichol-phosphate mannose synthase subunit 3, Dolichyl-phosphate beta-D-mannosyltransferase subunit 3, Mannose-P-dolichol synthase subunit 3, Prostin-1

All UniProt accessions (2): Q9P2X0, A0A140VJI4

UniProt curated annotations — full annotation on UniProt →

Function. Stabilizer subunit of the dolichol-phosphate mannose (DPM) synthase complex; tethers catalytic subunit DPM1 to the endoplasmic reticulum.

Subunit / interactions. Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; within the complex, associates with DPM1 via its C-terminal domain and with DPM2 via its N-terminal portion. This interaction stabilizes DPM1 protein.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B15 (MDDGB15) [MIM:618992] An autosomal recessive, congenital muscular disorder characterized by hyperCKemia, myopathic features observed on muscle biopsy, developmental delay, mildly impaired intellectual development with learning difficulties, epilepsy, and mild white matter abnormalities. The disease may be caused by variants affecting the gene represented in this entry. Muscular dystrophy-dystroglycanopathy limb-girdle C15 (MDDGC15) [MIM:612937] An autosomal recessive muscular dystrophy associated with a disorder of glycosylation resulting in under-glycosylated serum glycoproteins. MDDGC15 patients have muscle weakness, increased serum creatine kinase, dystrophic changes on muscle biopsy, and reduced O-mannosylation of alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the DPM3 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9P2X0-1	1, Short	yes
Q9P2X0-2	2, Long

RefSeq proteins (2): NP_061846, NP_714963* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR013174	DPM3	Family

Pfam: PF08285

Enzyme classification (BRENDA):

• EC 2.4.1.83 — dolichyl-phosphate beta-D-mannosyltransferase (BRENDA: 27 organisms, 37 substrates, 49 inhibitors, 37 Km, 9 kcat entries)

Substrate kinetics (BRENDA)

10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.

Substrate	Km (mM)	Measurements
GDPMANNOSE	0.0003–0.007	11
GDP-MANNOSE	0.0002–0.0012	10
DOLICHYL PHOSPHATE	0.0003–0.0143	7
(6Z,10E,14E,18E,22E)-3,7,15,19,23,27-HEXAMETHYL-	0.0751	1
(6Z,10Z,14Z,18Z,22E,26E)-3,7,11,15,19,23,27-HEPT	0.0246	1
(6Z,10Z,14Z,18Z,22Z,26Z,30E,34E,38E)-3,7,11,15,1	0.0248	1
C110-DOLICHYL PHOSPHATE	0.0006	1
C120-DOLICHYL PHOSPHATE	0.0016	1
C55-UNDECAPRENYL PHOSPHATE	0.0012	1
C85-DOLICHYL PHOSPHATE	0.0023	1

UniProt features (9 total): sequence variant 4, transmembrane region 2, chain 1, splice variant 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9P2X0-F1	88.73	0.64

Function

Pathways and Gene Ontology

Reactome pathways

5 pathways

ID	Pathway
R-HSA-162699	Synthesis of dolichyl-phosphate mannose
R-HSA-4717374	Defective DPM1 causes DPM1-CDG
R-HSA-4719360	Defective DPM3 causes DPM3-CDG
R-HSA-4719377	Defective DPM2 causes DPM2-CDG
R-HSA-9918432	Maturation of DENV proteins

MSigDB gene sets: 191 (showing top): GSE45365_NK_CELL_VS_CD8_TCELL_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, CASORELLI_APL_SECONDARY_VS_DE_NOVO_UP, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_13, chr1q22, GOBP_LIPID_METABOLIC_PROCESS, GOBP_LIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (5): protein O-linked glycosylation via mannose (GO:0035269), dolichyl monophosphate biosynthetic process (GO:0043048), dolichol phosphate mannose biosynthetic process (GO:0180047), obsolete protein glycosylation (GO:0006486), obsolete dolichol metabolic process (GO:0019348)

GO Molecular Function (4): enzyme activator activity (GO:0008047), protein-membrane adaptor activity (GO:0043495), protein binding (GO:0005515), endoplasmic reticulum-plasma membrane adaptor activity (GO:0160214)

GO Cellular Component (4): endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), membrane (GO:0016020), dolichol-phosphate-mannose synthase complex (GO:0033185)

Reactome top-level categories

Rollup of top-4 pathways:

Category	Pathways
Diseases associated with glycosylation precursor biosynthesis	3
Post-translational modification: synthesis of GPI-anchored proteins	1
Synthesis of substrates in N-glycan biosythesis	1
Dengue Virus Genome Translation and Replication	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
phospholipid biosynthetic process	2
protein O-linked glycosylation	1
glycolipid biosynthetic process	1
terpenoid biosynthetic process	1
catalytic activity	1
enzyme regulator activity	1
molecular function activator activity	1
protein-macromolecule adaptor activity	1
binding	1
membrane-membrane adaptor activity	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
cellular anatomical structure	1
mannosyltransferase complex	1

Protein interactions and networks

STRING

1004 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPM3	DPM2	O94777	999
DPM3	DPM1	O60762	999
DPM3	DOLK	Q9UPQ8	827
DPM3	POMT2	Q9UKY4	810
DPM3	POMT1	Q9Y6A1	805
DPM3	DAG1	Q14118	792
DPM3	FKRP	Q9H9S5	772
DPM3	GMPPB	Q9Y5P6	771
DPM3	POMGNT1	Q8WZA1	770
DPM3	MPDU1	O75352	760
DPM3	POMGNT2	Q8NAT1	757
DPM3	FKTN	O75072	749
DPM3	RXYLT1	Q9Y2B1	749
DPM3	B3GALNT2	Q8NCR0	745
DPM3	POMK	Q9H5K3	733

IntAct

15 interactions, top by confidence:

A	B	Type	Score
DPM1	DPM3	psi-mi:“MI:0915”(physical association)	0.730
DPM3	DPM1	psi-mi:“MI:0915”(physical association)	0.730
DPM2	DPM3	psi-mi:“MI:0915”(physical association)	0.660
DPM3	DPM2	psi-mi:“MI:0915”(physical association)	0.660
DPM3	Dpm2	psi-mi:“MI:0915”(physical association)	0.520
AFG2B	MMP24OS	psi-mi:“MI:0914”(association)	0.350
INSR	RIMOC1	psi-mi:“MI:0914”(association)	0.350
NRAS	IGKV2D-24	psi-mi:“MI:0914”(association)	0.350
DPM1	DPM2	psi-mi:“MI:0914”(association)	0.350
LRRK2	SF3B1	psi-mi:“MI:0914”(association)	0.350

BioGRID (27): DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Affinity Capture-MS), DPM3 (Two-hybrid), DPM3 (Two-hybrid), DPM3 (Two-hybrid), SEC22B (Two-hybrid), DPM3 (Affinity Capture-MS), DPM3 (Co-purification)

ESM2 similar proteins: A1L134, B1AUE5, O43292, O60683, O60831, O75908, O75915, O77759, O89109, O95870, P0C8N6, P70295, Q1RMQ3, Q2HJ63, Q2KHX3, Q3ZC71, Q4R4I9, Q4R4R4, Q4R7X9, Q56P28, Q5E9M1, Q5R4X8, Q5R8B1, Q5RBY7, Q5RJQ8, Q5SYH2, Q5XI60, Q5ZL36, Q66K66, Q78S06, Q803C7, Q8CB65, Q8HXW8, Q8NF37, Q8R5J9, Q8VEC4, Q92535, Q96HR9, Q9CXR4, Q9D1E5

Diamond homologs: A8WUS5, Q3ZC71, Q5R8B1, Q9P2X0, Q9XVV5, Q9D1Q4

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DPM3	“form complex”	“DPM complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	12
Likely pathogenic	1
Uncertain significance	38
Likely benign	20
Benign	3

Top pathogenic / likely-pathogenic (13)

Variant ID	HGVS	Classification
1060967	NM_153741.2(DPM3):c.129_130del (p.Tyr44fs)	Pathogenic
1074098	NM_153741.2(DPM3):c.229C>T (p.Gln77Ter)	Pathogenic
1446016	NM_153741.2(DPM3):c.244C>T (p.Arg82Ter)	Pathogenic
1989778	NM_153741.2(DPM3):c.27G>A (p.Trp9Ter)	Pathogenic
2043355	NM_153741.2(DPM3):c.5del (p.Thr2fs)	Pathogenic
2762867	NM_153741.2(DPM3):c.205del (p.Asp69fs)	Pathogenic
3247791	NC_000001.10:g.(?155112418)(155112826_?)del	Pathogenic
4702	NM_153741.2(DPM3):c.254T>C (p.Leu85Ser)	Pathogenic
4736163	NM_153741.2(DPM3):c.54G>A (p.Trp18Ter)	Pathogenic
585021	NM_153741.2(DPM3):c.41T>C (p.Leu14Pro)	Pathogenic
658481	NM_153741.2(DPM3):c.21G>A (p.Trp7Ter)	Pathogenic
694278	NM_153741.2(DPM3):c.254T>A (p.Leu85Ter)	Pathogenic
374109	NM_153741.2(DPM3):c.137T>A (p.Leu46Gln)	Likely pathogenic

SpliceAI

175 predictions. Top by Δscore:

Variant	Effect	Δscore
1:155140487:TTA:T	donor_loss	1.0000
1:155140488:TACCT:T	donor_loss	1.0000
1:155140486:CTTA:C	donor_loss	0.9900
1:155140489:A:AC	donor_gain	0.9900
1:155140490:C:CC	donor_gain	0.9900
1:155140490:CCT:C	donor_gain	0.9900
1:155140246:C:CC	acceptor_gain	0.9800
1:155140484:CA:C	donor_gain	0.9800
1:155140244:CA:C	acceptor_gain	0.9500
1:155140489:AC:A	donor_gain	0.9400
1:155140490:CC:C	donor_gain	0.9400
1:155140490:CCTCT:C	donor_gain	0.9200
1:155140489:ACCT:A	donor_gain	0.8400
1:155140490:CCTC:C	donor_gain	0.8400
1:155140512:C:A	donor_gain	0.8400
1:155140243:TCA:T	acceptor_gain	0.8100
1:155140244:CAC:C	acceptor_gain	0.8100
1:155140488:TAC:T	donor_gain	0.8100
1:155140491:CTC:C	donor_gain	0.8100
1:155140492:TCT:T	donor_gain	0.8100
1:155140489:ACCTC:A	donor_gain	0.7900
1:155140490:C:G	donor_gain	0.7800
1:155140507:C:A	donor_gain	0.7700
1:155140243:TCACT:T	acceptor_loss	0.7500
1:155140244:CACT:C	acceptor_loss	0.7500
1:155140245:ACT:A	acceptor_loss	0.7500
1:155140247:T:A	acceptor_loss	0.7500
1:155140281:A:T	acceptor_gain	0.7500
1:155140487:TTACC:T	donor_gain	0.7400
1:155140272:CTG:C	acceptor_loss	0.7100

AlphaMissense

564 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:155140090:A:G	C51R	0.967
1:155140068:C:T	G58D	0.965
1:155140008:A:G	I78T	0.952
1:155140049:A:C	F64L	0.948
1:155140049:A:T	F64L	0.948
1:155140051:A:G	F64L	0.948
1:155140069:C:G	G58R	0.944
1:155139965:G:C	F92L	0.939
1:155139965:G:T	F92L	0.939
1:155139967:A:G	F92L	0.939
1:155140092:C:T	G50D	0.938
1:155140078:C:G	G55R	0.933
1:155140083:G:T	A53D	0.930
1:155140189:A:G	W18R	0.929
1:155140189:A:T	W18R	0.929
1:155140020:A:T	L74Q	0.926
1:155140020:A:G	L74P	0.925
1:155140198:C:G	G15R	0.923
1:155139987:A:G	L85S	0.922
1:155140057:C:G	A62P	0.921
1:155140000:C:G	A81P	0.917
1:155140093:C:G	G50R	0.916
1:155140101:A:T	V47E	0.912
1:155140222:A:G	W7R	0.911
1:155140222:A:T	W7R	0.911
1:155140050:A:G	F64S	0.910
1:155140104:A:C	L46R	0.907
1:155140077:C:T	G55D	0.904
1:155140087:A:C	Y52D	0.903
1:155140008:A:T	I78K	0.899

dbSNP variants (sampled 300 via entrez): RS1000288874 (1:155139564 G>A,T), RS1001671100 (1:155139399 A>G), RS1003129591 (1:155141396 C>T), RS1003452112 (1:155140409 C>G), RS1004001446 (1:155142447 G>A,C), RS1004238517 (1:155142113 A>G), RS1004463772 (1:155141367 A>G), RS1004480640 (1:155140949 T>C,G), RS1004628491 (1:155140481 C>G,T), RS1005837935 (1:155140647 T>C,G), RS1005863727 (1:155139774 A>G), RS1007876431 (1:155142451 C>T), RS1011820860 (1:155141025 C>G), RS1012137419 (1:155141356 G>A,C), RS1013017127 (1:155141297 G>A)

Disease associations

OMIM: gene MIM:605951 | disease phenotypes: MIM:612937, MIM:618992

GenCC curated gene-disease

Disease	Classification	Inheritance
DPM3-congenital disorder of glycosylation	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

Expert-panel classifications — Definitive > Strong > Moderate > Limited > Disputed > Refuted.

Disease	Classification	Inheritance
DPM3-congenital disorder of glycosylation	Moderate	AR

Mondo (4): DPM3-congenital disorder of glycosylation (MONDO:0013049), cardiomyopathy (MONDO:0004994), myopathy (MONDO:0005336), muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15 (MONDO:0033556)

Orphanet (2): DPM3-CDG (Orphanet:263494), Rare cardiomyopathy (Orphanet:167848)

HPO phenotypes

34 total (30 of 34 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001270	Motor delay
HP:0001315	Reduced tendon reflexes
HP:0001324	Muscle weakness
HP:0001644	Dilated cardiomyopathy
HP:0001763	Pes planus
HP:0002121	Generalized non-motor (absence) seizure
HP:0002187	Profound intellectual disability
HP:0002317	Unsteady gait
HP:0002401	Stroke-like episode
HP:0002515	Waddling gait
HP:0002518	Abnormal periventricular white matter morphology
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003198	Myopathy
HP:0003236	Elevated circulating creatine kinase concentration
HP:0003391	Gowers sign
HP:0003487	Babinski sign
HP:0003557	Increased variability in muscle fiber diameter
HP:0003560	Muscular dystrophy
HP:0003581	Adult onset
HP:0003621	Juvenile onset
HP:0003642	Type I transferrin isoform profile
HP:0003687	Centrally nucleated skeletal muscle fibers
HP:0003701	Proximal muscle weakness
HP:0003749	Pelvic girdle muscle weakness
HP:0003805	Rimmed vacuoles
HP:0006785	Limb-girdle muscular dystrophy
HP:0008331	Elevated creatine kinase after exercise
HP:0008981	Calf muscle hypertrophy
HP:0012363	Decreased sialylation of O-linked protein glycosylation

GWAS associations

29 associations (top):

Study	Trait	p-value
GCST001277_10	Liver enzyme levels (gamma-glutamyl transferase)	2.000000e-15
GCST001942_19	Prostate cancer	2.000000e-08
GCST004131_70	Inflammatory bowel disease	6.000000e-08
GCST004132_44	Crohn’s disease	2.000000e-07
GCST007294_124	Body fat distribution (trunk fat ratio)	8.000000e-35
GCST007294_3	Body fat distribution (trunk fat ratio)	6.000000e-21
GCST007294_50	Body fat distribution (trunk fat ratio)	1.000000e-15
GCST007295_17	Body fat distribution (leg fat ratio)	3.000000e-13
GCST007295_37	Body fat distribution (leg fat ratio)	7.000000e-17
GCST007295_72	Body fat distribution (leg fat ratio)	1.000000e-28
GCST008745_88	Estimated glomerular filtration rate in non-diabetics	5.000000e-11
GCST008972_85	Urate levels	2.000000e-08
GCST009640_5	Urinary albumin-to-creatinine ratio	5.000000e-12
GCST010696_19	Cortical thickness (min-P)	2.000000e-10
GCST010697_10	Cortical surface area (min-P)	3.000000e-10
GCST010698_59	Subcortical volume (min-P)	9.000000e-10
GCST010699_20	Brain morphology (min-P)	7.000000e-10
GCST010700_5	Cortical thickness (MOSTest)	8.000000e-17
GCST010701_66	Cortical surface area (MOSTest)	1.000000e-09
GCST010702_43	Subcortical volume (MOSTest)	3.000000e-10
GCST010703_253	Brain morphology (MOSTest)	4.000000e-14
GCST010796_1642	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST010796_1643	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-09
GCST010796_1644	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-10
GCST010796_1645	Electrocardiogram morphology (amplitude at temporal datapoints)	6.000000e-12
GCST010796_1646	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-12
GCST010796_1647	Electrocardiogram morphology (amplitude at temporal datapoints)	1.000000e-12
GCST010796_1648	Electrocardiogram morphology (amplitude at temporal datapoints)	8.000000e-13
GCST010796_1649	Electrocardiogram morphology (amplitude at temporal datapoints)	7.000000e-13

EFO canonical traits (7, from GWAS)

EFO ID	Trait name
EFO:0004532	serum gamma-glutamyl transferase measurement
EFO:0004341	body fat distribution
EFO:0004531	urate measurement
EFO:0007778	urinary albumin to creatinine ratio
EFO:0004346	neuroimaging measurement
EFO:0004840	cortical thickness
EFO:0004327	electrocardiography

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D009202	Cardiomyopathies	C14.280.238
C567857	Congenital Disorder of Glycosylation, Type Io (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	decreases expression, increases expression	3
Cyclosporine	decreases expression	3
bisphenol A	affects expression, decreases expression	2
trichostatin A	affects cotreatment, decreases expression	2
bisphenol F	increases expression	1
chloroacetaldehyde	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
cobaltous chloride	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
K 7174	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dimethylarsinous acid	decreases expression	1
ICG 001	decreases expression	1
bisphenol B	increases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
jinfukang	increases expression	1
Sunitinib	increases expression	1
Cidofovir	increases expression	1
Air Pollutants	decreases expression, increases abundance	1
Benzo(a)pyrene	decreases methylation	1
Cisplatin	increases expression	1
Dexamethasone	increases expression	1
Clodronic Acid	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Diethylstilbestrol	decreases expression	1
Doxorubicin	affects expression, increases expression	1
Estradiol	decreases expression	1
Ifosfamide	increases expression	1
Ivermectin	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00348530	PHASE4	UNKNOWN	Carvedilol Versus Verapamil in Chronic Heart Failure Secondary to Non-Ischemic Cardiomyopathy
NCT00371891	PHASE4	COMPLETED	Ontario Multidetector Computed Tomographic (MDCT) Coronary Angiography Study (OMCAS)
NCT00401856	PHASE4	COMPLETED	CMR to Assess Fibrosis in Cardiomyopathy Using Eplerenone
NCT00559338	PHASE4	COMPLETED	Impact of Nesiritide Infusion for Decompensated Heart Failure in the Emergency Department
NCT00606775	PHASE4	UNKNOWN	The Preventive Efficacy of Carvedilol on Cardiac Dysfunction in Duchenne Muscular Dystrophy
NCT00658203	PHASE4	COMPLETED	Clinical Evaluation on Advanced Resynchronization
NCT00701220	PHASE4	COMPLETED	Statin Therapy for Ischemic and Nonischemic Cardiomyopathy
NCT00800761	PHASE4	COMPLETED	Intensive Combined Chelation Therapy for Iron-Induced Cardiac Disease in Patients With Thalassemia Major
NCT00806390	PHASE4	TERMINATED	Prevention of Anthracycline or Trastuzumab Induced Cardiomyopathy by Metoprolol
NCT01006473	PHASE4	COMPLETED	Exercise Training in Chagas Cardiomyopathy
NCT01261065	PHASE4	COMPLETED	Mechanisms of Improvement With Beta-Blocker Treatment in Heart Failure
NCT01345188	PHASE4	COMPLETED	Ranolazine in Ischemic Cardiomyopathy
NCT01868841	PHASE4	COMPLETED	123-I mIBG (AdreView) Heart-to-Mediastinal (H/M) Ratio and SPECT Imaging on a Small Field of View-High Efficiency Cardiac SPECT System
NCT02640846	PHASE4	UNKNOWN	Effects of Levosimendan, Milrinone and Norepinephrine on Left and Right Ventricular Function in Septic Shock
NCT03228823	PHASE4	UNKNOWN	Prospective Assessment of Premature Ventricular Contractions Suppression in Cardiomyopathy(PAPS)
NCT04323852	PHASE4	COMPLETED	Can Vitamin D Reduce Heart Muscle Damage After Bypass Surgery?
NCT05034432	PHASE4	RECRUITING	The PIVATAL Study -Study of Ventricular Arrhythmia (VTA) Ablation in Left Ventricular Assist Device (LVAD) Patients
NCT05718128	PHASE4	RECRUITING	Clinical Study of Endocardial Myocardial Biopsy
NCT06964464	PHASE4	RECRUITING	Comparative Effectiveness of Carvedilol Versus Metoprolol Succinate in Heart Failure Patients With an Implantable Cardioverter Defibrillator
NCT00170183	PHASE3	COMPLETED	Brain Natriuretic Peptide (BNP) to Preserve Renal Function in Hospitalized Patients With Heart Failure
NCT00270387	PHASE3	COMPLETED	A Study of Short-Term Outcomes and Economic Impact For Patients With Worsening Congestive Heart Failure When Natrecor (Nesiritide) is Added to Standard-Care Therapy, Compared to Administration of Placebo With Standard-Care Therapy
NCT00321295	PHASE3	COMPLETED	Biventricular Pacing In Patients With Left Ventricular Dysfunction After Cardiovascular Surgery
NCT00483197	PHASE3	UNKNOWN	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Pivotal Trial
NCT00490321	PHASE3	UNKNOWN	VentrAssistTM LVAD for the Treatment of Advanced Heart Failure - Destination Therapy
NCT00626028	PHASE3	COMPLETED	Comparison of Inhaled Nitric Oxide and Oxygen in Participants Reactivity During Acute Pulmonary Vasodilator Testing
NCT01013714	PHASE3	UNKNOWN	Cardiac Sympathetic Denervation for Prevention of Ventricular Tachyarrhythmias
NCT01217827	PHASE3	COMPLETED	Implantable Cardioverter-Defibrillator Use in the VA System
NCT01648634	PHASE3	COMPLETED	Nebivolol for the Prevention of Left Ventricular Systolic Dysfunction in Patients With Duchenne Muscular Dystrophy
NCT02924285	PHASE3	COMPLETED	Catheter Ablation Versus Amiodarone for Therapy of Premature Ventricular Contractions in Patients With Structural Heart Disease
NCT03860935	PHASE3	COMPLETED	Efficacy and Safety of AG10 in Subjects With Transthyretin Amyloid Cardiomyopathy
NCT04166331	PHASE3	COMPLETED	Adjunctive DobutAmine in sePtic Cardiomyopathy With Tissue Hypoperfusion
NCT05175066	PHASE3	COMPLETED	Bisoprolol Administration to Prevent Anthracycline-induced Cardiotoxicity
NCT05237323	PHASE3	COMPLETED	Micophenolate Mofetil Versus Azathioprine in Myocarditis
NCT06158698	PHASE3	RECRUITING	CMP-MYTHiC Trial and Registry - CardioMyoPathy With MYocarditis THerapy With Colchicine
NCT06563895	PHASE3	RECRUITING	Acoramidis Transthyretin Amyloidosis Prevention Trial in the Young (ACT-EARLY) Study in Asymptomatic Carriers of a Pathogenic TTR Variant
NCT06846086	PHASE3	RECRUITING	Cardioprotective Effects of Melatonin in Patients With Cardiomyopathy
NCT07116473	PHASE3	NOT_YET_RECRUITING	To Evaluate the Long-term Safety and Tolerability of Acoramidis in Participants With Newly Diagnosed ATTR-CM (ACT-EARLY OLE)
NCT00185250	PHASE2	COMPLETED	Betaferon/ Betaseron (Interferon Beta-1b) in Patients With Chronic Viral Cardiomyopathy
NCT00490347	PHASE2	COMPLETED	VentrAssistTM LVAD as a Bridge to Cardiac Transplantation - Feasibility Trial
NCT00694161	PHASE2	COMPLETED	The Effects Of Fx-1006A On Transthyretin Stabilization And Clinical Outcome Measures In Patients With V122I Or Wild-Type TTR Amyloid Cardiomyopathy