DPM2

Summary

DPM2 (dolichyl-phosphate mannosyltransferase subunit 2, regulatory, HGNC:3006) is a protein-coding gene on chromosome 9q34.11, encoding Dolichol phosphate-mannose biosynthesis regulatory protein (O94777). Regulates the biosynthesis of dolichol phosphate-mannose. It is a selective cancer dependency (DepMap: 30.2% 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 hydrophobic protein that contains 2 predicted transmembrane domains and a putative ER localization signal near the C terminus. This protein associates with DPM1 in vivo and is required for the ER localization and stable expression of DPM1 and also enhances the binding of dolichol-phosphate to DPM1.

Source: NCBI Gene 8818 — RefSeq curated summary.

At a glance

• Gene–disease (curated): congenital muscular dystrophy with intellectual disability and severe epilepsy (Strong, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 135 total — 7 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 53
• Cancer dependency (DepMap): dependent in 30.2% of screened cell lines
• MANE Select transcript: NM_003863

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:3006
Approved symbol	DPM2
Name	dolichyl-phosphate mannosyltransferase subunit 2, regulatory
Location	9q34.11
Locus type	gene with protein product
Status	Approved
Aliases	MGC21559, MGC111193
Ensembl gene	ENSG00000136908
Ensembl biotype	protein_coding
OMIM	603564
Entrez	8818

Gene structure

Transcript identifiers

Ensembl transcripts: 10 — 7 protein_coding, 3 retained_intron

ENST00000314392, ENST00000373110, ENST00000470181, ENST00000473360, ENST00000495270, ENST00000898429, ENST00000898430, ENST00000911993, ENST00000911994, ENST00000957588

RefSeq mRNA: 2 — MANE Select: NM_003863 NM_001378437, NM_003863

CCDS: CCDS6886

Canonical transcript exons

ENST00000314392 — 4 exons

Exon	Start	End
ENSE00001146477	127937434	127937523
ENSE00001830268	127937818	127937854
ENSE00003477310	127936553	127936655
ENSE00003584234	127935099	127935780

Expression profiles

Bgee: expression breadth ubiquitous, 265 present calls, max score 96.52.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.7183 / max 603.2959, expressed in 1805 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
102626	24.9287	1805
102625	0.7897	448

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	96.52	gold quality
endometrium epithelium	UBERON:0004811	96.36	gold quality
left lobe of thyroid gland	UBERON:0001120	95.68	gold quality
right lobe of thyroid gland	UBERON:0001119	95.60	gold quality
body of stomach	UBERON:0001161	95.01	gold quality
metanephros cortex	UBERON:0010533	94.81	gold quality
right uterine tube	UBERON:0001302	94.68	gold quality
pancreas	UBERON:0001264	94.54	gold quality
mucosa of transverse colon	UBERON:0004991	94.54	gold quality
islet of Langerhans	UBERON:0000006	94.48	gold quality
thyroid gland	UBERON:0002046	94.35	gold quality
stromal cell of endometrium	CL:0002255	94.29	gold quality
right frontal lobe	UBERON:0002810	94.16	gold quality
minor salivary gland	UBERON:0001830	93.98	gold quality
apex of heart	UBERON:0002098	93.87	gold quality
adenohypophysis	UBERON:0002196	93.86	gold quality
cingulate cortex	UBERON:0003027	93.68	gold quality
anterior cingulate cortex	UBERON:0009835	93.66	gold quality
nucleus accumbens	UBERON:0001882	93.63	gold quality
lower esophagus mucosa	UBERON:0035834	93.57	gold quality
left adrenal gland	UBERON:0001234	93.34	gold quality
caudate nucleus	UBERON:0001873	93.28	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	93.27	gold quality
left adrenal gland cortex	UBERON:0035825	93.20	gold quality
right adrenal gland	UBERON:0001233	93.19	gold quality
putamen	UBERON:0001874	93.13	gold quality
amygdala	UBERON:0001876	93.04	gold quality
saliva-secreting gland	UBERON:0001044	92.99	gold quality
upper lobe of left lung	UBERON:0008952	92.98	gold quality
stomach	UBERON:0000945	92.87	gold quality

Single-cell (SCXA)

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

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

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

30 targeting DPM2, 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-185-3P	99.95	67.01	1743
HSA-MIR-22-3P	99.93	68.13	917
HSA-MIR-329-3P	99.91	66.56	1234
HSA-MIR-362-3P	99.91	66.38	1267
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-4319	99.76	69.83	2586
HSA-MIR-11181-3P	99.75	66.38	2205
HSA-MIR-6764-5P	99.75	67.89	2304
HSA-MIR-3934-5P	99.67	64.04	846
HSA-MIR-10394-5P	99.65	66.83	1852
HSA-MIR-1205	99.65	66.76	1826
HSA-MIR-1915-3P	99.58	66.79	1988
HSA-MIR-4441	99.49	66.56	3216
HSA-MIR-125A-5P	99.36	70.59	1640
HSA-MIR-125B-5P	99.36	70.36	1662
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-6852-5P	99.17	66.69	2073
HSA-MIR-1286	99.09	66.23	1046
HSA-MIR-2355-5P	98.83	65.51	1589
HSA-MIR-6761-5P	98.71	68.03	1504
HSA-MIR-7155-5P	98.65	66.14	1290
HSA-MIR-6882-3P	98.23	67.01	1119
HSA-MIR-6880-5P	98.08	65.59	1282
HSA-MIR-146B-3P	97.83	65.29	782
HSA-MIR-6783-5P	97.67	67.21	1528
HSA-MIR-6872-3P	97.08	66.99	750
HSA-MIR-3116	97.07	65.78	1324
HSA-MIR-4689	96.97	65.79	1209
HSA-MIR-4281	92.91	63.60	271

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 30.2% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 4)

• We describe a new congenital disorders of glycosylation, due to a deficiency of DPM2 (PMID:23109149)
• In this study, 2 of 8 (primary angle-closure glaucoma) PACG-associated loci were associated significantly with PACS status, the earliest stage in the angle-closure glaucoma disease course. The association of these PACG loci with PACS status suggests that these loci may confer susceptibility to a narrow angle configuration. (PMID:29310965)
• Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation. (PMID:33129689)
• Yil102c-A is a Functional Homologue of the DPMII Subunit of Dolichyl Phosphate Mannose Synthase in Saccharomyces cerevisiae. (PMID:33255655)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	dpm2	ENSDARG00000095623
mus_musculus	Dpm2	ENSMUSG00000026810
rattus_norvegicus		ENSRNOG00000084654

Protein

Protein identifiers

Dolichol phosphate-mannose biosynthesis regulatory protein — O94777 (reviewed: O94777)

Alternative names: Dolichol-phosphate mannose synthase subunit 2

All UniProt accessions (2): O94777, Q5T9C7

UniProt curated annotations — full annotation on UniProt →

Function. Regulates the biosynthesis of dolichol phosphate-mannose. Regulatory subunit of the dolichol-phosphate mannose (DPM) synthase complex; essential for the ER localization and stable expression of DPM1. Part of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis. May act by regulating the GPI-GNT complex.

Subunit / interactions. Component of the dolichol-phosphate mannose (DPM) synthase complex composed of DPM1, DPM2 and DPM3; in the complex interacts directly with DPM3. Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2. Interacts with PIGA, PIGC and PIGQ.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Congenital disorder of glycosylation 1U (CDG1U) [MIM:615042] A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. Some CDG1U patients have dystrophic changes seen on muscle biopsy and reduced O-mannosyl glycans on alpha-dystroglycan. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Protein modification; protein glycosylation.

Similarity. Belongs to the DPM2 family.

RefSeq proteins (2): NP_001365366, NP_003854* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR009914	DPM2	Family

Pfam: PF07297

UniProt features (6 total): transmembrane region 2, sequence variant 2, initiator methionine 1, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O94777-F1	91.96	0.85

Function

Pathways and Gene Ontology

Reactome pathways

6 pathways

ID	Pathway
R-HSA-162699	Synthesis of dolichyl-phosphate mannose
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)
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: 264 (showing top): GSE45365_NK_CELL_VS_CD8A_DC_UP, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, ENK_UV_RESPONSE_KERATINOCYTE_UP, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, KEGG_N_GLYCAN_BIOSYNTHESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, PATIL_LIVER_CANCER, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS

GO Biological Process (6): dolichol-linked oligosaccharide biosynthetic process (GO:0006488), GPI anchor biosynthetic process (GO:0006506), 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 (3): enzyme activator activity (GO:0008047), enzyme regulator activity (GO:0030234), protein binding (GO:0005515)

GO Cellular Component (5): glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), dolichol-phosphate-mannose synthase complex (GO:0033185), membrane (GO:0016020)

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	2
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
glycolipid biosynthetic process	2
phospholipid biosynthetic process	2
catalytic activity	2
protein N-linked glycosylation	1
carbohydrate derivative biosynthetic process	1
GPI anchor metabolic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
terpenoid biosynthetic process	1
enzyme regulator activity	1
molecular function activator activity	1
molecular function regulator activity	1
binding	1
endoplasmic reticulum membrane	1
membrane protein complex	1
endoplasmic reticulum protein-containing complex	1
transferase complex	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
mannosyltransferase complex	1
cellular anatomical structure	1

Protein interactions and networks

STRING

944 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
DPM2	DPM1	O60762	999
DPM2	DPM3	Q9P2X0	999
DPM2	PIGH	Q14442	996
DPM2	PIGP	P57054	996
DPM2	PIGC	Q92535	996
DPM2	PIGQ	Q9BRB3	995
DPM2	PIGA	P37287	985
DPM2	PIGY	Q3MUY2	985
DPM2	MPDU1	O75352	929
DPM2	PYURF	Q96I23	805
DPM2	DOLK	Q9UPQ8	796
DPM2	POMGNT2	Q8NAT1	786
DPM2	POMT1	Q9Y6A1	770
DPM2	RXYLT1	Q9Y2B1	762
DPM2	PIGL	Q9Y2B2	760

IntAct

16 interactions, top by confidence:

A	B	Type	Score
PIGA	DPM2	psi-mi:“MI:0914”(association)	0.660
DPM2	PIGA	psi-mi:“MI:0914”(association)	0.660
DPM2	DPM3	psi-mi:“MI:0915”(physical association)	0.660
PIGA	DPM2	psi-mi:“MI:0915”(physical association)	0.660
DPM3	DPM2	psi-mi:“MI:0915”(physical association)	0.660
PIGQ	DPM2	psi-mi:“MI:0915”(physical association)	0.500
PIGC	DPM2	psi-mi:“MI:0915”(physical association)	0.500
WLS	DPM2	psi-mi:“MI:0915”(physical association)	0.490
WLS	DPM2	psi-mi:“MI:0915”(physical association)	0.370
DPM2	WDR46	psi-mi:“MI:0914”(association)	0.350
DPM1	DPM2	psi-mi:“MI:0914”(association)	0.350

BioGRID (50): DPM2 (Synthetic Lethality), DPM2 (Co-purification), PIGP (Affinity Capture-Western), DPM2 (PCA), MYO5C (Affinity Capture-MS), PIGO (Affinity Capture-MS), CCPG1 (Affinity Capture-MS), UGT3A2 (Affinity Capture-MS), DPY19L4 (Affinity Capture-MS), MYH9 (Affinity Capture-MS), CACTIN (Affinity Capture-MS), TUSC3 (Affinity Capture-MS), POMT2 (Affinity Capture-MS), SAFB2 (Affinity Capture-MS), MYO5B (Affinity Capture-MS)

ESM2 similar proteins: A1CJW1, A1D7K7, A3LU53, A5DGY3, A5JYQ9, A6R3V7, A6ZV87, A7F5K4, A7S6Y0, A7TSA7, B1YKK2, B2WDD8, B3LIC1, B3M9A8, B3NIN0, B4IAB8, B4PET6, B4QJ33, B4UN04, C6Y4C8, O44953, O64792, O94777, P0CS24, P0CS25, P41806, P52872, Q0CXF5, Q0UV26, Q18319, Q1DPX9, Q295N5, Q2HDV5, Q2KIN1, Q54FB6, Q556K9, Q5B905, Q5Q995, Q61CQ8, Q6BXM0

Diamond homologs: O94777, Q2KIN1, Q556K9, Q9CA79, Q9USW6, Q9Z1P1, Q9Z324, Q9Z325

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
DPM2	“form complex”	“DPM complex”	binding

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	7
Likely pathogenic	1
Uncertain significance	58
Likely benign	53
Benign	5

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
1065329	NM_003863.4(DPM2):c.173G>A (p.Gly58Asp)	Pathogenic
2745894	NM_003863.4(DPM2):c.109C>T (p.Gln37Ter)	Pathogenic
2802571	NM_003863.4(DPM2):c.29del (p.Gly10fs)	Pathogenic
3707799	NM_003863.4(DPM2):c.147T>A (p.Tyr49Ter)	Pathogenic
39446	NM_003863.4(DPM2):c.68A>G (p.Tyr23Cys)	Pathogenic
39447	NM_003863.4(DPM2):c.4-1G>C	Pathogenic
632533	NM_003863.4(DPM2):c.37del (p.Leu13fs)	Pathogenic
2442789	NM_003863.4(DPM2):c.197G>A (p.Gly66Glu)	Likely pathogenic

SpliceAI

509 predictions. Top by Δscore:

Variant	Effect	Δscore
9:127936624:T:C	acceptor_gain	1.0000
9:127936663:C:CT	acceptor_gain	1.0000
9:127935776:CAGTC:C	acceptor_gain	0.9900
9:127936546:GACTT:G	donor_loss	0.9900
9:127936547:ACTT:A	donor_loss	0.9900
9:127936548:CTT:C	donor_loss	0.9900
9:127936550:TACC:T	donor_loss	0.9900
9:127936551:A:AC	donor_gain	0.9900
9:127936551:A:AT	donor_loss	0.9900
9:127936551:AC:A	donor_gain	0.9900
9:127936552:C:CA	donor_loss	0.9900
9:127936552:C:CC	donor_gain	0.9900
9:127936552:CC:C	donor_gain	0.9900
9:127936552:CCCA:C	donor_gain	0.9900
9:127936653:TGG:T	acceptor_gain	0.9900
9:127936656:C:CC	acceptor_gain	0.9900
9:127936660:C:CT	acceptor_gain	0.9900
9:127936664:G:T	acceptor_gain	0.9900
9:127937429:CATA:C	donor_loss	0.9900
9:127937430:ATAC:A	donor_loss	0.9900
9:127937431:TA:T	donor_loss	0.9900
9:127937433:C:CA	donor_loss	0.9900
9:127937858:T:TA	donor_gain	0.9900
9:127935797:A:T	acceptor_gain	0.9800
9:127936162:AT:A	donor_gain	0.9800
9:127936551:ACC:A	donor_gain	0.9800
9:127936552:CCC:C	donor_gain	0.9800
9:127936652:ATGG:A	acceptor_gain	0.9800
9:127936653:TGGC:T	acceptor_loss	0.9800
9:127936654:GG:G	acceptor_gain	0.9800

AlphaMissense

527 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
9:127937476:G:C	S17R	0.994
9:127937476:G:T	S17R	0.994
9:127937478:T:G	S17R	0.994
9:127937448:A:G	W27R	0.982
9:127937448:A:T	W27R	0.982
9:127936617:G:C	F44L	0.973
9:127936617:G:T	F44L	0.973
9:127936619:A:G	F44L	0.973
9:127936577:C:G	G58R	0.972
9:127937464:G:C	F21L	0.972
9:127937464:G:T	F21L	0.972
9:127937466:A:G	F21L	0.972
9:127936553:C:G	G66R	0.965
9:127936553:C:T	G66R	0.965
9:127937446:C:A	W27C	0.965
9:127937446:C:G	W27C	0.965
9:127936600:G:T	A50D	0.963
9:127936588:G:C	P54R	0.961
9:127936576:C:T	G58D	0.960
9:127936650:G:C	F33L	0.956
9:127936650:G:T	F33L	0.956
9:127936652:A:G	F33L	0.956
9:127937499:C:G	G10R	0.954
9:127937499:C:T	G10R	0.954
9:127936618:A:G	F44S	0.950
9:127937493:C:G	G12R	0.950
9:127936588:G:T	P54Q	0.948
9:127937498:C:T	G10E	0.944
9:127936567:A:C	L61R	0.941
9:127936651:A:G	F33S	0.938

dbSNP variants (sampled 300 via entrez): RS1000955769 (9:127936654 GGCTGGCATCGAGGGAAGA>G), RS1001194385 (9:127939609 C>T), RS1001794505 (9:127938112 A>C), RS1002672603 (9:127939196 C>A,T), RS1002680153 (9:127935800 A>G), RS1002729711 (9:127937428 A>G), RS1002787329 (9:127938791 G>A), RS1002792430 (9:127936774 C>T), RS1003690875 (9:127935592 T>C), RS1003739758 (9:127934765 C>T), RS1004183911 (9:127938725 A>G), RS1004584246 (9:127939734 T>C), RS1005951819 (9:127938724 C>A,G), RS1006993034 (9:127937731 T>C), RS1007941808 (9:127935976 T>C)

Disease associations

OMIM: gene MIM:603564 | disease phenotypes: MIM:615042

GenCC curated gene-disease

Disease	Classification	Inheritance
congenital muscular dystrophy with intellectual disability and severe epilepsy	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
congenital muscular dystrophy with intellectual disability and severe epilepsy	Moderate	AR

Mondo (1): congenital muscular dystrophy with intellectual disability and severe epilepsy (MONDO:0014023)

Orphanet (1): Congenital muscular dystrophy with intellectual disability and severe epilepsy (Orphanet:329178)

HPO phenotypes

53 total (30 of 53 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000243	Trigonocephaly
HP:0000253	Progressive microcephaly
HP:0000294	Low anterior hairline
HP:0000347	Micrognathia
HP:0000486	Strabismus
HP:0000601	Hypotelorism
HP:0000648	Optic atrophy
HP:0000689	Dental malocclusion
HP:0000938	Osteopenia
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001321	Cerebellar hypoplasia
HP:0001344	Absent speech
HP:0001508	Failure to thrive
HP:0001522	Death in infancy
HP:0001561	Polyhydramnios
HP:0001976	Reduced antithrombin III activity
HP:0001999	Abnormal facial shape
HP:0002002	Deep philtrum
HP:0002058	Myopathic facies
HP:0002098	Respiratory distress
HP:0002123	Generalized myoclonic seizure
HP:0002205	Recurrent respiratory infections
HP:0002240	Hepatomegaly
HP:0002375	Hypokinesia
HP:0002421	Poor head control

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST003467_6	Glaucoma (primary angle closure)	8.000000e-12
GCST003467_7	Glaucoma (primary angle closure)	5.000000e-11
GCST005951_65	Body mass index	5.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

24 total (human), top 24 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol F	affects cotreatment, increases expression	1
dicrotophos	increases expression	1
tris(2-butoxyethyl) phosphate	affects expression	1
sodium arsenite	decreases expression	1
cobaltous chloride	decreases expression	1
zinc chromate	decreases expression, increases abundance	1
di-n-butylphosphoric acid	affects expression	1
chromium hexavalent ion	decreases expression, increases abundance	1
CGP 52608	affects binding, increases reaction	1
thifluzamide	increases expression	1
pyrachlostrobin	increases expression	1
jinfukang	increases expression	1
Acetaminophen	increases expression	1
Amiodarone	increases expression	1
Benzo(a)pyrene	affects methylation, increases methylation	1
Coumestrol	increases expression	1
Dexamethasone	affects cotreatment, increases expression	1
Indomethacin	increases expression, affects cotreatment	1
Quercetin	increases expression	1
Tobacco Smoke Pollution	increases expression	1
Valproic Acid	increases expression, increases methylation	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Cyclosporine	increases expression	1
Okadaic Acid	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_B1QD	Abcam HeLa DPM2 KO	Cancer cell line	Female

Clinical trials (associated diseases)

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