PIGV

Summary

PIGV (phosphatidylinositol glycan anchor biosynthesis class V, HGNC:26031) is a protein-coding gene on chromosome 1p36.11, encoding GPI alpha-1,6-mannosyltransferase 2 (Q9NUD9). Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed….

This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene.

Source: NCBI Gene 55650 — RefSeq curated summary.

At a glance

• Gene–disease (curated): hyperphosphatasia with intellectual disability syndrome 1 (Definitive, GenCC) — +1 more curated relationship
• GWAS associations: 16
• Clinical variants (ClinVar): 395 total — 3 pathogenic, 3 likely-pathogenic
• Phenotypes (HPO): 92
• MANE Select transcript: NM_017837

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26031
Approved symbol	PIGV
Name	phosphatidylinositol glycan anchor biosynthesis class V
Location	1p36.11
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20477, PIG-V, GPI-MT-II
Ensembl gene	ENSG00000060642
Ensembl biotype	protein_coding
OMIM	610274
Entrez	55650

Gene structure

Transcript identifiers

Ensembl transcripts: 39 — 36 protein_coding, 1 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000078527, ENST00000374145, ENST00000431541, ENST00000455364, ENST00000472757, ENST00000674202, ENST00000674222, ENST00000674273, ENST00000674317, ENST00000674335, ENST00000686194, ENST00000686325, ENST00000686422, ENST00000686655, ENST00000687468, ENST00000688522, ENST00000688730, ENST00000689130, ENST00000691135, ENST00000691454, ENST00000693629, ENST00000888414, ENST00000888415, ENST00000888416, ENST00000888417, ENST00000888418, ENST00000888419, ENST00000888420, ENST00000931628, ENST00000931629, ENST00000931630, ENST00000931631, ENST00000931632, ENST00000931633, ENST00000970548, ENST00000970549, ENST00000970550, ENST00000970551, ENST00000970552

RefSeq mRNA: 10 — MANE Select: NM_017837 NM_001202554, NM_001374478, NM_001374480, NM_001374481, NM_001374482, NM_001374483, NM_001374484, NM_001374485, NM_001374486, NM_017837

CCDS: CCDS287, CCDS90892, CCDS90893, CCDS90894

Canonical transcript exons

ENST00000674202 — 4 exons

Exon	Start	End
ENSE00000348296	26794113	26795234
ENSE00001224738	26787950	26788268
ENSE00003476293	26790759	26790893
ENSE00003899386	26797563	26800659

Expression profiles

Bgee: expression breadth ubiquitous, 278 present calls, max score 96.33.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 7.0636 / max 100.3925, expressed in 1782 samples.

FANTOM5 promoters (4 alternative TSS)

Promoter ID	TPM avg	Samples expressed
1655	3.6754	1595
1654	2.1828	1412
1652	0.8990	385
1653	0.3064	152

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
sperm	CL:0000019	96.33	gold quality
male germ cell	CL:0000015	94.74	gold quality
adult organism	UBERON:0007023	94.51	gold quality
oocyte	CL:0000023	90.83	gold quality
right testis	UBERON:0004534	90.40	gold quality
left testis	UBERON:0004533	90.26	gold quality
germinal epithelium of ovary	UBERON:0001304	89.97	gold quality
bronchial epithelial cell	CL:0002328	89.69	gold quality
testis	UBERON:0000473	89.68	gold quality
secondary oocyte	CL:0000655	89.60	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	89.41	gold quality
epithelium of bronchus	UBERON:0002031	89.12	gold quality
parotid gland	UBERON:0001831	89.07	gold quality
nephron tubule	UBERON:0001231	88.79	gold quality
bronchus	UBERON:0002185	88.64	gold quality
palpebral conjunctiva	UBERON:0001812	88.58	gold quality
right lobe of liver	UBERON:0001114	88.03	gold quality
esophagus squamous epithelium	UBERON:0006920	87.93	gold quality
liver	UBERON:0002107	87.72	gold quality
seminal vesicle	UBERON:0000998	87.32	gold quality
renal glomerulus	UBERON:0000074	87.27	gold quality
epithelium of esophagus	UBERON:0001976	87.20	gold quality
metanephric glomerulus	UBERON:0004736	86.86	gold quality
corpus epididymis	UBERON:0004359	86.58	gold quality
eye	UBERON:0000970	86.55	gold quality
right adrenal gland	UBERON:0001233	86.46	gold quality
right adrenal gland cortex	UBERON:0035827	86.22	gold quality
kidney epithelium	UBERON:0004819	85.21	gold quality
left adrenal gland	UBERON:0001234	85.03	gold quality
mucosa of transverse colon	UBERON:0004991	84.94	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	4.09

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

26 targeting PIGV, 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-8485	100.00	77.57	4731
HSA-MIR-4283	100.00	66.42	2097
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-335-3P	99.93	73.36	4958
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-3941	99.86	70.54	2735
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-448	99.79	72.37	2103
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-3680-3P	99.75	72.51	3095
HSA-MIR-584-3P	99.35	67.69	1082
HSA-MIR-4311	99.31	70.47	3041
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-223-5P	99.24	68.82	1206
HSA-MIR-593-3P	99.22	67.28	1327
HSA-MIR-7702	99.06	65.95	698
HSA-MIR-2467-3P	98.65	67.18	1969
HSA-MIR-6728-3P	98.63	67.63	1534
HSA-MIR-6837-3P	98.42	66.71	1149
HSA-MIR-581	98.39	67.42	835
HSA-MIR-147A	98.33	66.40	795
HSA-MIR-6748-3P	97.20	65.66	836
HSA-MIR-600	97.07	66.73	1259

Literature-anchored findings (GeneRIF, showing 6)

• PIG-V is the second mannosyltransferase in GPI anchor biosynthesis. (PMID:15623507)
• PIGV mutations are associated with hyperphosphatasia mental retardation syndrome. (PMID:20802478)
• novel compound heterozygous mutations in the PIGV gene c.467G>A and c.1022C>A and a homozygous mutation c.1022C>A in hyperphosphatasia-mental retardation syndrome (PMID:21739589)
• Hyperphosphatasia resulted from secretion of ALP, a GPI-anchored protein normally expressed on the cell surface, into serum due to PIGV deficiency. (PMID:22228761)
• PIGV is the rate-limiting enzyme in GPI biosynthesis under limited dolicholphosphate mannose availability. (PMID:23694781)
• Data indicate that mannosyltransferases PIGV mutations are the major cause of hyperphosphatasia-mental retardation syndrome (HPMRS) which displays a broad clinical variability regarding associated malformations and growth patterns. (PMID:24129430)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	pigv	ENSDARG00000101952
mus_musculus	Pigv	ENSMUSG00000043257
rattus_norvegicus	Pigv	ENSRNOG00000000121
drosophila_melanogaster	PIG-V	FBGN0265174
caenorhabditis_elegans	pigv-1	WBGENE00020375

Protein

Protein identifiers

GPI alpha-1,6-mannosyltransferase 2 — Q9NUD9 (reviewed: Q9NUD9)

Alternative names: GPI mannosyltransferase II, Phosphatidylinositol-glycan biosynthesis class V protein

All UniProt accessions (11): Q9NUD9, A0A0A0MSX6, A0A6I8PU65, A0A8I5KPJ1, A0A8I5KQ29, A0A8I5KQK6, A0A8I5KRV8, A0A8I5KVW7, A0A8I5QL09, E9PQC7, X1WI27

UniProt curated annotations — full annotation on UniProt →

Function. Alpha-1,6-mannosyltransferase that catalyzes the transfer of the second mannose, via an alpha-1,6 bond, from a dolichol-phosphate-mannose (Dol-P-Man) to a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H2) intermediate to generate a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H3) and participates in the seventh step of the glycosylphosphatidylinositol-anchor biosynthesis. May also transfer the second mannose on a 2-acyl-6-[2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol (also termed H5), but less effectively.

Subcellular location. Endoplasmic reticulum membrane.

Post-translational modifications. Not N-glycosylated.

Disease relevance. Hyperphosphatasia with impaired intellectual development syndrome 1 (HPMRS1) [MIM:239300] A severe syndrome characterized by elevated serum alkaline phosphatase, severe intellectual disability, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Similarity. Belongs to the PIGV family.

RefSeq proteins (10): NP_001189483, NP_001361407, NP_001361409, NP_001361410, NP_001361411, NP_001361412, NP_001361413, NP_001361414, NP_001361415, NP_060307* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR007315	PIG-V/Gpi18	Family

Pfam: PF04188

Catalyzed reactions (Rhea), 2 shown:

• a 2-acyl-6-(alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl)-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol + a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate = a 2-acyl-6-[alpha-D-mannosyl-(1->6)-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:60488)
• a 2-acyl-6-[2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol + a di-trans,poly-cis-dolichyl beta-D-mannosyl phosphate = a 2-acyl-6-[alpha-D-mannosyl-(1->6)-2-phosphoethanolamine-alpha-D-mannosyl-(1->4)-alpha-D-glucosaminyl]-1-(1-radyl,2-acyl-sn-glycero-3-phospho)-1D-myo-inositol + a di-trans,poly-cis-dolichyl phosphate + H(+) (RHEA:60992)

UniProt features (32 total): topological domain 11, transmembrane region 10, mutagenesis site 5, sequence variant 4, chain 1, sequence conflict 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NUD9-F1	90.22	0.79

Functional residue map

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

Mutagenesis-validated functional residues (5):

Position	Phenotype
66	loss of function.
67	loss of function.
293–294	n-glycosylated due to the creation of an acceptor site for n-glycosylation.
308	induces a reduces enzyme activity.
312	loss of function.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-162710	Synthesis of glycosylphosphatidylinositol (GPI)

MSigDB gene sets: 351 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GGGTGGRR_PAX4_03, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, YY1_Q6, GGCNKCCATNK_UNKNOWN, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, AML_Q6

GO Biological Process (1): GPI anchor biosynthetic process (GO:0006506)

GO Molecular Function (7): alpha-1,6-mannosyltransferase activity (GO:0000009), mannosyltransferase activity (GO:0000030), GPI mannosyltransferase activity (GO:0004376), dol-P-Man:Man(1)GlcN-acyl-PI alpha-1,6-mannosyltransferase activity (GO:0120563), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (4): endoplasmic reticulum membrane (GO:0005789), mannosyltransferase complex (GO:0031501), endoplasmic reticulum (GO:0005783), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Post-translational modification: synthesis of GPI-anchored proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
mannosyltransferase activity	2
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
hexosyltransferase activity	1
alpha-1,6-mannosyltransferase activity	1
GPI mannosyltransferase activity	1
binding	1
catalytic activity	1
transferase activity	1
organelle membrane	1
nuclear outer membrane-endoplasmic reticulum membrane network	1
endoplasmic reticulum subcompartment	1
intracellular protein-containing complex	1
transferase complex	1
cytoplasm	1
endomembrane system	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1

Protein interactions and networks

STRING

746 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGV	PIGO	Q8TEQ8	914
PIGV	PIGM	Q9H3S5	879
PIGV	PIGW	Q7Z7B1	878
PIGV	PIGL	Q9Y2B2	876
PIGV	PIGB	Q92521	847
PIGV	PGAP2	Q9UHJ9	844
PIGV	PIGT	Q969N2	842
PIGV	PIGA	P37287	811
PIGV	PIGZ	Q86VD9	805
PIGV	PIGY	Q3MUY2	804
PIGV	PIGH	Q14442	795
PIGV	PIGK	Q92643	792
PIGV	PIGQ	Q9BRB3	791
PIGV	PIGG	Q5H8A4	775
PIGV	PIGC	Q92535	774

IntAct

10 interactions, top by confidence:

A	B	Type	Score
PIGV	SERPINH1	psi-mi:“MI:0915”(physical association)	0.560
PIGV	TGFBR2	psi-mi:“MI:0915”(physical association)	0.560
CBX5	PIGV	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (2): PIGV (Affinity Capture-RNA), PIGV (Affinity Capture-Luminescence)

ESM2 similar proteins: A0A8C2M425, A1L1J9, B0BNG2, O60725, O75908, O77759, O88269, O88908, O95255, Q0P4J9, Q290J8, Q3T1L5, Q3TAE8, Q3UV71, Q499P8, Q49LS7, Q4R4E1, Q4VV71, Q5F380, Q5KR61, Q5R8F6, Q5RAH7, Q5RKL5, Q6AZ83, Q6NVG1, Q7SXZ1, Q7T310, Q7TPN3, Q7TQM4, Q86VD9, Q8AVI9, Q8BTP0, Q8C0T0, Q8C3X8, Q8CI59, Q8IUR5, Q8K2A8, Q8L638, Q8R1J1, Q8R4P9

Diamond homologs: A0A8C2M425, P0CP62, P0CP63, Q290J8, Q5KR61, Q7TPN3, Q9NUD9, Q9V7W1, O02164, P38211, Q2GSI6, Q2UJS7, Q4I0K3, Q4WQ21, Q6C216, Q757K7, Q6CMW6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	3
Uncertain significance	211
Likely benign	136
Benign	7

Top pathogenic / likely-pathogenic (6)

Variant ID	HGVS	Classification
1285	NM_017837.4(PIGV):c.1154A>C (p.His385Pro)	Pathogenic
1286	NM_017837.4(PIGV):c.766C>A (p.Gln256Lys)	Pathogenic
1287	NM_017837.4(PIGV):c.1022C>T (p.Ala341Val)	Pathogenic
547943	NM_017837.4(PIGV):c.55C>T (p.Arg19Cys)	Likely pathogenic
597733	NM_017837.4(PIGV):c.781dup (p.Thr261fs)	Likely pathogenic
985880	NM_017837.4(PIGV):c.1253C>A (p.Ala418Asp)	Likely pathogenic

SpliceAI

813 predictions. Top by Δscore:

Variant	Effect	Δscore
1:26788238:G:GT	donor_gain	0.9900
1:26790749:T:TA	acceptor_gain	0.9900
1:26790750:G:A	acceptor_gain	0.9900
1:26790757:A:AG	acceptor_gain	0.9900
1:26790758:G:GG	acceptor_gain	0.9900
1:26794203:G:GT	donor_gain	0.9900
1:26794258:C:G	donor_gain	0.9900
1:26788074:G:T	donor_gain	0.9800
1:26788088:G:GT	donor_gain	0.9800
1:26788126:G:GT	donor_gain	0.9800
1:26788126:G:T	donor_gain	0.9800
1:26788423:G:GT	donor_gain	0.9800
1:26790758:GA:G	acceptor_gain	0.9800
1:26794107:CCACA:C	acceptor_loss	0.9800
1:26794109:ACAGG:A	acceptor_loss	0.9800
1:26794111:A:AG	acceptor_gain	0.9800
1:26794111:AGGCC:A	acceptor_loss	0.9800
1:26794112:G:GG	acceptor_gain	0.9800
1:26794274:G:GG	donor_gain	0.9800
1:26788074:G:GT	donor_gain	0.9700
1:26788428:GTT:G	donor_gain	0.9700
1:26788468:G:GT	donor_gain	0.9700
1:26788486:A:G	donor_gain	0.9700
1:26794112:GGCC:G	acceptor_gain	0.9700
1:26794204:A:T	donor_gain	0.9700
1:26788387:GACCC:G	donor_gain	0.9600
1:26794233:G:GT	donor_gain	0.9600
1:26794233:G:T	donor_gain	0.9600
1:26794112:GGC:G	acceptor_gain	0.9500
1:26788815:GATCT:G	donor_gain	0.9400

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000174577 (1:26786303 A>G), RS1000258647 (1:26796166 T>A,G), RS1000262068 (1:26790356 T>C), RS1000314659 (1:26790052 G>A), RS1000478570 (1:26797226 C>A,G), RS1000597696 (1:26788853 G>C), RS1000758936 (1:26795874 T>A), RS1000944866 (1:26796151 C>T), RS1002140332 (1:26788462 C>T), RS1002227497 (1:26793338 C>G,T), RS1002271585 (1:26787952 A>G), RS1002299638 (1:26793603 G>T), RS1002324003 (1:26787815 G>A,C), RS1002465033 (1:26800183 C>A,T), RS1002610061 (1:26800450 CT>C,CTT)

Disease associations

OMIM: gene MIM:610274 | disease phenotypes: MIM:239300

GenCC curated gene-disease

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 1	Definitive	Autosomal recessive
hyperphosphatasia-intellectual disability syndrome	Supportive	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
hyperphosphatasia with intellectual disability syndrome 1	Moderate	AR

Mondo (2): hyperphosphatasia with intellectual disability syndrome 1 (MONDO:0009398), hyperphosphatasia-intellectual disability syndrome (MONDO:0016596)

Orphanet (1): Hyperphosphatasia-intellectual disability syndrome (Orphanet:247262)

HPO phenotypes

92 total (30 of 92 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000126	Hydronephrosis
HP:0000175	Cleft palate
HP:0000193	Bifid uvula
HP:0000204	Cleft upper lip
HP:0000218	High palate
HP:0000219	Thin upper lip vermilion
HP:0000238	Hydrocephalus
HP:0000248	Brachycephaly
HP:0000272	Malar flattening
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000289	Broad philtrum
HP:0000303	Mandibular prognathia
HP:0000311	Round face
HP:0000316	Hypertelorism
HP:0000322	Short philtrum
HP:0000347	Micrognathia
HP:0000358	Posteriorly rotated ears
HP:0000365	Hearing impairment
HP:0000378	Cupped ear
HP:0000391	Thickened helices
HP:0000407	Sensorineural hearing impairment
HP:0000414	Bulbous nose
HP:0000426	Prominent nasal bridge
HP:0000431	Wide nasal bridge
HP:0000455	Broad nasal tip
HP:0000470	Short neck
HP:0000540	Hypermetropia
HP:0000565	Esotropia

GWAS associations

16 associations (top):

Study	Trait	p-value
GCST002216_1	Triglycerides	1.000000e-09
GCST002222_44	LDL cholesterol	3.000000e-12
GCST002223_69	HDL cholesterol	1.000000e-15
GCST002898_38	LDL cholesterol	7.000000e-10
GCST002899_5	HDL cholesterol	1.000000e-06
GCST004232_51	HDL cholesterol levels	9.000000e-16
GCST004233_14	LDL cholesterol levels	3.000000e-12
GCST004237_13	Triglyceride levels	1.000000e-09
GCST004250_8	Alanine aminotransferase (ALT) levels after remission induction therapy in actute lymphoblastic leukemia (ALL)	1.000000e-08
GCST004620_105	Sum basophil neutrophil counts	8.000000e-09
GCST004629_2	Neutrophil count	8.000000e-09
GCST006988_201	Blond vs. brown/black hair color	1.000000e-08
GCST007611_16	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	6.000000e-12
GCST009731_28	Blood protein levels in cardiovascular risk	4.000000e-08
GCST010173_16	Triglyceride levels	5.000000e-22
GCST010204_106	Low density lipoprotein cholesterol levels	4.000000e-27

EFO canonical traits (8, from GWAS)

EFO ID	Trait name
EFO:0004530	triglyceride measurement
EFO:0004611	low density lipoprotein cholesterol measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007965	response to combination chemotherapy
EFO:0004833	neutrophil count
EFO:0005090	basophil count
EFO:0003924	hair color
EFO:0010625	xaa‐pro aminopeptidase 2 measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	affects methylation, increases expression	2
Cisplatin	increases expression, affects cotreatment	2
Cyclosporine	decreases expression	2
GSK-J4	decreases expression	1
methylmercuric chloride	decreases expression	1
bisphenol A	affects cotreatment, increases methylation	1
cobaltous chloride	decreases expression	1
ochratoxin A	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	affects cotreatment, increases expression	1
Fulvestrant	affects cotreatment, increases methylation	1
Air Pollutants	decreases expression, increases abundance	1
Arsenic	affects methylation	1
Benzo(a)pyrene	affects methylation, decreases methylation	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Estradiol	decreases expression	1
Mannose	increases metabolic processing	1
Methotrexate	increases expression	1
Phenobarbital	affects expression	1
Phthalic Acids	increases methylation	1
Smoke	decreases expression	1
Testosterone	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Valproic Acid	affects expression	1
Glycosylphosphatidylinositols	increases chemical synthesis	1
Okadaic Acid	decreases expression	1
Copper Sulfate	decreases expression	1
Acrylamide	decreases expression	1

Clinical trials (associated diseases)

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