PIGH

Summary

PIGH (phosphatidylinositol glycan anchor biosynthesis class H, HGNC:8964) is a protein-coding gene on chromosome 14q24.1, encoding Phosphatidylinositol N-acetylglucosaminyltransferase subunit H (Q14442). 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. It is a selective cancer dependency (DepMap: 25.6% of cell lines).

This gene encodes an endoplasmic reticulum associated protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI anchor is a glycolipid found on many blood cells and which serves to anchor proteins to the cell surface. The protein encoded by this gene is a subunit of the GPI N-acetylglucosaminyl (GlcNAc) transferase that transfers GlcNAc to phosphatidylinositol (PI) on the cytoplasmic side of the endoplasmic reticulum.

Source: NCBI Gene 5283 — RefSeq curated summary.

At a glance

• Gene–disease (curated): glycosylphosphatidylinositol biosynthesis defect 17 (Strong, GenCC)
• Clinical variants (ClinVar): 1 total
• Phenotypes (HPO): 25
• Cancer dependency (DepMap): dependent in 25.6% of screened cell lines
• MANE Select transcript: NM_004569

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8964
Approved symbol	PIGH
Name	phosphatidylinositol glycan anchor biosynthesis class H
Location	14q24.1
Locus type	gene with protein product
Status	Approved
Aliases	GPI-H
Ensembl gene	ENSG00000100564
Ensembl biotype	protein_coding
OMIM	600154
Entrez	5283

Gene structure

Transcript identifiers

Ensembl transcripts: 15 — 10 protein_coding, 3 nonsense_mediated_decay, 2 retained_intron

ENST00000216452, ENST00000558001, ENST00000558198, ENST00000558493, ENST00000558987, ENST00000559097, ENST00000559118, ENST00000559415, ENST00000559581, ENST00000560722, ENST00000561272, ENST00000561303, ENST00000934504, ENST00000967099, ENST00000967100

RefSeq mRNA: 2 — MANE Select: NM_004569 NM_001363694, NM_004569

CCDS: CCDS86403, CCDS9784

Canonical transcript exons

ENST00000216452 — 4 exons

Exon	Start	End
ENSE00000658640	67593743	67593952
ENSE00001168371	67589318	67590172
ENSE00002562215	67600024	67600268
ENSE00003467918	67592635	67592718

Expression profiles

Bgee: expression breadth ubiquitous, 280 present calls, max score 93.66.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.0205 / max 82.5033, expressed in 1796 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
143748	8.9810	1784
143747	2.0395	1060

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
body of pancreas	UBERON:0001150	93.66	gold quality
left lobe of thyroid gland	UBERON:0001120	93.41	gold quality
right adrenal gland	UBERON:0001233	93.16	gold quality
left adrenal gland	UBERON:0001234	93.06	gold quality
right adrenal gland cortex	UBERON:0035827	93.05	gold quality
left adrenal gland cortex	UBERON:0035825	92.90	gold quality
right lobe of thyroid gland	UBERON:0001119	92.80	gold quality
metanephros cortex	UBERON:0010533	92.06	gold quality
adrenal gland	UBERON:0002369	91.96	gold quality
thyroid gland	UBERON:0002046	91.95	gold quality
adrenal cortex	UBERON:0001235	91.89	gold quality
left ovary	UBERON:0002119	91.88	gold quality
adrenal tissue	UBERON:0018303	91.87	gold quality
minor salivary gland	UBERON:0001830	91.85	gold quality
right ovary	UBERON:0002118	91.58	gold quality
skin of leg	UBERON:0001511	91.36	gold quality
skin of abdomen	UBERON:0001416	91.33	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	91.29	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	90.87	gold quality
pancreas	UBERON:0001264	90.83	gold quality
cerebellar hemisphere	UBERON:0002245	90.83	gold quality
cerebellar cortex	UBERON:0002129	90.82	gold quality
right hemisphere of cerebellum	UBERON:0014890	90.81	gold quality
mucosa of stomach	UBERON:0001199	90.73	gold quality
gastrocnemius	UBERON:0001388	90.65	gold quality
endocervix	UBERON:0000458	90.62	gold quality
left uterine tube	UBERON:0001303	90.49	gold quality
granulocyte	CL:0000094	90.43	gold quality
muscle of leg	UBERON:0001383	90.29	gold quality
body of stomach	UBERON:0001161	90.25	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-HCAD-13	no	2.83
E-HCAD-5	no	2.17
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

56 targeting PIGH, 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-6867-5P	100.00	82.21	3464
HSA-MIR-4682	100.00	68.89	1258
HSA-MIR-6077	99.99	68.04	2299
HSA-MIR-8068	99.98	73.85	2376
HSA-MIR-12136	99.98	72.81	5713
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-570-3P	99.96	72.41	4910
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-369-3P	99.85	70.52	2264
HSA-MIR-6844	99.82	70.69	2423
HSA-MIR-636	99.80	69.58	1500
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-2116-3P	99.74	64.32	889
HSA-MIR-646	99.68	67.84	1645
HSA-MIR-7-5P	99.67	70.53	1809
HSA-MIR-6887-3P	99.66	67.83	1778
HSA-MIR-545-5P	99.66	70.18	2308
HSA-MIR-4663	99.62	65.33	957
HSA-MIR-802	99.61	67.70	1254
HSA-MIR-892A	99.54	68.16	1141
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-208A-5P	99.42	70.83	1913
HSA-MIR-208B-5P	99.42	70.83	1952
HSA-MIR-889-5P	99.41	68.75	1025

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 25.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• Results from a study on gene expression variability markers in early-stage human embryos shows that PIGH is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
• Truncation of PIGH protein was consistent with the utilization of an in-frame start-site at codon 63. In summary, we describe siblings harboring a homozygous c.1A > T variant resulting in defective GPI-anchor biogenesis and highlight the importance of exploring low-coverage variants within autozygous regions. (PMID:29573052)
• This suggests that PIGH mutations may cause a syndrome with developmental delay and autism, but without an epileptic encephalopathy, and should increase the awareness of the potentially deleterious nature of biallelic variants in this gene. (PMID:29603516)
• The GPI-anchor negative phenotype results from loss of mRNA expression of the PIGH gene, which is involved in the first step of GPI-anchor synthesis. Loss of PIGH mRNA expression within these B-ALL cells follows epigenetic silencing rather than gene mutation or deletion. (PMID:30370942)
• PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations. (PMID:33156547)
• An epigenetic GPI anchor defect impairs TLR4 signaling in the B cell transdifferentiation model for primary human monocytes BLaER1. (PMID:34294787)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	pigh	ENSDARG00000038348
mus_musculus	Pigh	ENSMUSG00000021120
rattus_norvegicus	Pigh	ENSRNOG00000010914

Protein

Protein identifiers

Phosphatidylinositol N-acetylglucosaminyltransferase subunit H — Q14442 (reviewed: Q14442)

Alternative names: Phosphatidylinositol-glycan biosynthesis class H protein

All UniProt accessions (9): Q14442, B4DEE2, H0YKI1, H0YKZ3, H0YLD0, H0YLY9, H0YMT4, H0YMV4, H0YNL7

UniProt curated annotations — full annotation on UniProt →

Function. 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.

Subunit / interactions. Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2. Within the complex, interacts with PIGA. Interacts with PIGQ.

Subcellular location. Endoplasmic reticulum membrane.

Disease relevance. Glycosylphosphatidylinositol biosynthesis defect 17 (GPIBD17) [MIM:618010] An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Clinical features include learning disabilities, mild-to-moderate developmental delay, seizures of variable severity, aggressive or over-friendly behavior, and autistic features. The disease is caused by variants affecting the gene represented in this entry.

Pathway. Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Similarity. Belongs to the PIGH family.

RefSeq proteins (2): NP_001350623, NP_004560* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR019328	PIGH-H_dom	Domain
IPR044215	PIG-H	Family

Pfam: PF10181

UniProt features (8 total): topological domain 3, transmembrane region 2, sequence variant 2, chain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q14442-F1	87.07	0.49

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

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

MSigDB gene sets: 178 (showing top): GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLINOSITOL_METABOLIC_PROCESS, KAAB_FAILED_HEART_ATRIUM_DN, GOBP_GLYCOLIPID_BIOSYNTHETIC_PROCESS, REACTOME_SYNTHESIS_OF_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_PROTEIN_MATURATION, chr14q24, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, KEGG_GLYCOSYLPHOSPHATIDYLINOSITOL_GPI_ANCHOR_BIOSYNTHESIS

GO Biological Process (2): GPI anchor biosynthetic process (GO:0006506), protein modification process (GO:0036211)

GO Molecular Function (4): catalytic activity (GO:0003824), protein binding (GO:0005515), transferase activity (GO:0016740), glycosyltransferase activity (GO:0016757)

GO Cellular Component (5): glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506), endoplasmic reticulum (GO:0005783), endoplasmic reticulum membrane (GO:0005789), cytoplasm (GO:0005737), 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
cellular anatomical structure	2
GPI anchor metabolic process	1
glycolipid biosynthetic process	1
glycerophospholipid biosynthetic process	1
GPI anchored protein biosynthesis	1
protein metabolic process	1
macromolecule modification	1
molecular_function	1
binding	1
catalytic activity	1
transferase activity	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
intracellular anatomical structure	1

Protein interactions and networks

STRING

458 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PIGH	PIGQ	Q9BRB3	999
PIGH	PIGA	P37287	999
PIGH	PIGP	P57054	999
PIGH	PIGY	Q3MUY2	999
PIGH	PIGC	Q92535	999
PIGH	DPM2	O94777	996
PIGH	PIGL	Q9Y2B2	859
PIGH	PIGB	Q92521	848
PIGH	PYURF	Q96I23	840
PIGH	PIGG	Q5H8A4	811
PIGH	PIGM	Q9H3S5	811
PIGH	PIGV	Q9NUD9	795
PIGH	PIGO	Q8TEQ8	794
PIGH	PIGK	Q92643	744
PIGH	PIGN	O95427	735

IntAct

37 interactions, top by confidence:

A	B	Type	Score
PIGA	PIGH	psi-mi:“MI:0915”(physical association)	0.740
PIGA	PIGP	psi-mi:“MI:0914”(association)	0.710
PIGH	PIGQ	psi-mi:“MI:0915”(physical association)	0.670
PIGA	DPM2	psi-mi:“MI:0914”(association)	0.660
DPM2	PIGA	psi-mi:“MI:0914”(association)	0.660
PIGC	PIGA	psi-mi:“MI:0914”(association)	0.640
P2RX4	FAM20B	psi-mi:“MI:0914”(association)	0.640
TXN2	PIGH	psi-mi:“MI:0915”(physical association)	0.370
P2RX4	ORC4	psi-mi:“MI:0914”(association)	0.350
IL18RAP	PIGA	psi-mi:“MI:0914”(association)	0.350
PIGP	PIGA	psi-mi:“MI:0914”(association)	0.350
PIGC	PIGH	psi-mi:“MI:0914”(association)	0.350
PCDHGC4		psi-mi:“MI:0914”(association)	0.350
TMEM63C	GPR89A	psi-mi:“MI:0914”(association)	0.350
COX4I1	COX7A2L	psi-mi:“MI:0914”(association)	0.350
ARSL	FBXO21	psi-mi:“MI:0914”(association)	0.350
PIGP	CST1	psi-mi:“MI:0914”(association)	0.350
PIGH	PTGDS	psi-mi:“MI:0914”(association)	0.350
TLR3	BLK	psi-mi:“MI:0914”(association)	0.350
PIGH	ILVBL	psi-mi:“MI:0914”(association)	0.350
PIGH	PRAF2	psi-mi:“MI:0914”(association)	0.350
MFSD10	NDUFS8	psi-mi:“MI:0914”(association)	0.350
MFSD5	ILVBL	psi-mi:“MI:0914”(association)	0.350
SLC12A9	PGRMC1	psi-mi:“MI:0914”(association)	0.350
SLC27A5	MEIOC	psi-mi:“MI:0914”(association)	0.350
SLC27A6	NBAS	psi-mi:“MI:0914”(association)	0.350

BioGRID (178): PIGH (Affinity Capture-MS), PIGH (Affinity Capture-MS), PIGH (Affinity Capture-MS), PIGH (Affinity Capture-MS), PIGH (Positive Genetic), PIGH (Positive Genetic), PIGA (Reconstituted Complex), PIGH (Affinity Capture-Western), PIGH (Reconstituted Complex), PIGH (Affinity Capture-RNA), PIGH (Affinity Capture-MS), NDFIP1 (Affinity Capture-MS), PTGDS (Affinity Capture-MS), PIGH (Affinity Capture-MS), PIGH (Affinity Capture-MS)

ESM2 similar proteins: A6H8H2, E7F654, F1QAM1, F1QYC4, F1S5L4, F4I9T0, O15111, P34298, P49896, P53961, P97564, Q09417, Q14442, Q22949, Q28GL3, Q298S5, Q32L89, Q4R690, Q4R866, Q4V9P9, Q5GJ77, Q5M9N4, Q5NVB9, Q5RE08, Q5VZ89, Q60680, Q61586, Q62240, Q642F4, Q6INI5, Q6NTV1, Q86XI2, Q8BH47, Q8BJW5, Q8IQ56, Q8IUH4, Q8NEZ5, Q8T0B1, Q8T913, Q96IW7

Diamond homologs: Q14442, Q32L89, Q5M9N4, Q9Y7L7

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 42 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
Synthesis of glycosylphosphatidylinositol (GPI)	5	105.7×	1e-07
SLC-mediated transmembrane transport	5	9.9×	6e-03

GO biological processes:

GO term	Partners	Fold	FDR
GPI anchor biosynthetic process	5	70.8×	2e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

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

Top pathogenic / likely-pathogenic (0)

SpliceAI

1536 predictions. Top by Δscore:

Variant	Effect	Δscore
14:67582064:TGTA:T	acceptor_loss	1.0000
14:67582067:A:AG	acceptor_gain	1.0000
14:67582067:A:G	acceptor_loss	1.0000
14:67582067:AG:A	acceptor_gain	1.0000
14:67582067:AGGCT:A	acceptor_gain	1.0000
14:67582068:G:GA	acceptor_loss	1.0000
14:67582068:G:GG	acceptor_gain	1.0000
14:67582068:GG:G	acceptor_gain	1.0000
14:67582068:GGCT:G	acceptor_gain	1.0000
14:67582068:GGCTG:G	acceptor_gain	1.0000
14:67582207:CCAGG:C	donor_loss	1.0000
14:67582210:GGTA:G	donor_loss	1.0000
14:67582211:G:C	donor_loss	1.0000
14:67582211:G:GG	donor_gain	1.0000
14:67582212:T:A	donor_loss	1.0000
14:67583983:T:TA	acceptor_gain	1.0000
14:67583990:A:AG	acceptor_gain	1.0000
14:67583990:ACCAG:A	acceptor_gain	1.0000
14:67584124:GGTA:G	donor_loss	1.0000
14:67584125:G:GA	donor_loss	1.0000
14:67584126:T:A	donor_loss	1.0000
14:67585566:A:AG	acceptor_gain	1.0000
14:67585566:AGCCT:A	acceptor_gain	1.0000
14:67585567:G:GA	acceptor_gain	1.0000
14:67585567:GC:G	acceptor_gain	1.0000
14:67585567:GCC:G	acceptor_gain	1.0000
14:67585567:GCCT:G	acceptor_gain	1.0000
14:67585567:GCCTG:G	acceptor_gain	1.0000
14:67585655:G:GG	donor_gain	1.0000
14:67585656:T:A	donor_loss	1.0000

AlphaMissense

1216 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
14:67593762:A:T	I124N	0.997
14:67593864:A:G	L90P	0.997
14:67600059:A:G	W49R	0.997
14:67600059:A:T	W49R	0.997
14:67593754:C:G	A127P	0.996
14:67593756:T:A	E126V	0.996
14:67593762:A:C	I124S	0.996
14:67590162:G:T	P162H	0.995
14:67592639:A:G	F157S	0.994
14:67593844:C:G	G97R	0.994
14:67593794:G:C	F113L	0.993
14:67593794:G:T	F113L	0.993
14:67593796:A:G	F113L	0.993
14:67600068:A:G	C46R	0.993
14:67590163:G:A	P162S	0.992
14:67593765:A:T	V123D	0.992
14:67593840:A:T	I98N	0.992
14:67593843:C:T	G97D	0.992
14:67600049:G:T	A52D	0.992
14:67593762:A:G	I124T	0.991
14:67593777:A:T	V119D	0.991
14:67592693:A:T	I139N	0.990
14:67593910:C:G	G75R	0.990
14:67590147:A:G	L167S	0.989
14:67590162:G:C	P162R	0.989
14:67592642:A:T	V156D	0.989
14:67593756:T:G	E126A	0.988
14:67593837:T:G	Q99P	0.988
14:67590127:A:G	C174R	0.987
14:67590147:A:C	L167W	0.987

dbSNP variants (sampled 300 via entrez): RS1000295949 (14:67594210 G>A), RS1001050544 (14:67599980 G>A,T), RS1001375467 (14:67596130 G>C), RS1001594273 (14:67595709 T>C), RS1001702686 (14:67596815 T>C), RS1001792256 (14:67590361 T>C), RS1001931411 (14:67594414 C>T), RS1002029795 (14:67598287 G>A,C), RS1002063944 (14:67598572 T>C), RS1002132173 (14:67596970 G>A), RS1002240437 (14:67592583 A>G,T), RS1002504843 (14:67601644 T>C), RS1002732052 (14:67595602 T>A), RS1003110597 (14:67595234 G>A,C,T), RS1003993325 (14:67599700 T>C)

Disease associations

OMIM: gene MIM:600154 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
glycosylphosphatidylinositol biosynthesis defect 17	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
glycosylphosphatidylinositol biosynthesis defect 17	Limited	AR

Mondo (1): glycosylphosphatidylinositol biosynthesis defect 17 (MONDO:0060724)

Orphanet (0):

HPO phenotypes

25 total (25 of 25 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000218	High palate
HP:0000252	Microcephaly
HP:0000389	Chronic otitis media
HP:0000718	Aggressive behavior
HP:0000958	Dry skin
HP:0001250	Seizure
HP:0001263	Global developmental delay
HP:0001290	Generalized hypotonia
HP:0001328	Specific learning disability
HP:0001510	Growth delay
HP:0001864	Clinodactyly of the 5th toe
HP:0002069	Bilateral tonic-clonic seizure
HP:0002123	Generalized myoclonic seizure
HP:0002155	Hypertriglyceridemia
HP:0002373	Febrile seizure (within the age range of 3 months to 6 years)
HP:0002465	Poor speech
HP:0002754	Osteomyelitis
HP:0004209	Clinodactyly of the 5th finger
HP:0004379	Abnormality of alkaline phosphatase level
HP:0006989	Dysplastic corpus callosum
HP:0011463	Childhood onset
HP:0025510	Nevus spilus
HP:0031703	Abnormal ear morphology
HP:0100025	Overfriendliness

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, increases expression, affects expression	7
bisphenol A	increases methylation, affects cotreatment, increases expression	2
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
sodium arsenite	increases expression	1
4-aminophenylarsenoxide	affects binding, decreases reaction	1
entinostat	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects binding, decreases reaction	1
Air Pollutants	increases abundance, decreases expression	1
Cadmium	increases expression	1
Carbamazepine	affects expression	1
Cycloheximide	decreases expression, decreases reaction	1
Cytarabine	decreases expression	1
Dexamethasone	increases expression, affects cotreatment	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Indomethacin	affects cotreatment, increases expression	1
Methyl Methanesulfonate	increases expression	1
Naled	affects expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	decreases reaction, decreases expression	1
Tretinoin	decreases expression	1
Urethane	increases expression	1
Vitamin E	decreases expression	1
1-Methyl-3-isobutylxanthine	affects cotreatment, increases expression	1
Okadaic Acid	increases expression	1
Particulate Matter	decreases expression, increases abundance	1

Clinical trials (associated diseases)

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