PISD

Summary

PISD (phosphatidylserine decarboxylase, HGNC:8999) is a protein-coding gene on chromosome 22q12.2, encoding Phosphatidylserine decarboxylase proenzyme, mitochondrial (Q9UG56). Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer).

The protein encoded by this gene catalyzes the conversion of phosphatidylserine to phosphatidylethanolamine in the inner mitochondrial membrane. The encoded protein is active in phospholipid metabolism and interorganelle trafficking of phosphatidylserine.

Source: NCBI Gene 23761 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Liberfarb syndrome (Strong, GenCC)
• Clinical variants (ClinVar): 195 total — 5 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 13
• MANE Select transcript: NM_001326411

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:8999
Approved symbol	PISD
Name	phosphatidylserine decarboxylase
Location	22q12.2
Locus type	gene with protein product
Status	Approved
Aliases	dJ858B16.2, PSDC
Ensembl gene	ENSG00000241878
Ensembl biotype	protein_coding
OMIM	612770
Entrez	23761

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 16 protein_coding, 4 protein_coding_CDS_not_defined, 3 retained_intron, 1 nonsense_mediated_decay

ENST00000266095, ENST00000382151, ENST00000397500, ENST00000422020, ENST00000429683, ENST00000431201, ENST00000435900, ENST00000437808, ENST00000439502, ENST00000442379, ENST00000460723, ENST00000473770, ENST00000474017, ENST00000478893, ENST00000479851, ENST00000486675, ENST00000491342, ENST00000892604, ENST00000892605, ENST00000930689, ENST00000930690, ENST00000930691, ENST00000930692, ENST00000972531

RefSeq mRNA: 13 — MANE Select: NM_001326411 NM_001326411, NM_001326412, NM_001326413, NM_001326414, NM_001326415, NM_001326416, NM_001326417, NM_001326418, NM_001326419, NM_001326420, NM_001326421, NM_014338, NM_178022

CCDS: CCDS13899, CCDS87016

Canonical transcript exons

ENST00000439502 — 8 exons

Exon	Start	End
ENSE00001927930	31662144	31662215
ENSE00003459813	31621649	31621885
ENSE00003505682	31620553	31620713
ENSE00003507246	31620996	31621142
ENSE00003518485	31621334	31621472
ENSE00003524616	31618491	31619836
ENSE00003647092	31648101	31648276
ENSE00003661475	31650699	31650778

Expression profiles

Bgee: expression breadth ubiquitous, 276 present calls, max score 98.77.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 24.2193 / max 217.0966, expressed in 1817 samples.

FANTOM5 promoters (12 alternative TSS)

Promoter ID	TPM avg	Samples expressed
193725	12.3737	1792
193717	4.8950	1532
193721	2.2674	439
193720	1.2556	268
193713	0.9115	181
193716	0.8020	486
193715	0.7825	335
193718	0.5486	200
193719	0.2906	82
193726	0.0489	19

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cerebellar hemisphere	UBERON:0002245	98.77	gold quality
cerebellar cortex	UBERON:0002129	98.75	gold quality
right hemisphere of cerebellum	UBERON:0014890	98.71	gold quality
cerebellum	UBERON:0002037	98.29	gold quality
paraflocculus	UBERON:0005351	97.58	gold quality
cerebellar vermis	UBERON:0004720	96.98	gold quality
granulocyte	CL:0000094	95.69	gold quality
metanephros cortex	UBERON:0010533	95.39	gold quality
blood	UBERON:0000178	95.27	gold quality
monocyte	CL:0000576	94.97	gold quality
mononuclear cell	CL:0000842	94.52	gold quality
leukocyte	CL:0000738	94.49	gold quality
right frontal lobe	UBERON:0002810	93.87	gold quality
omental fat pad	UBERON:0010414	93.78	gold quality
peritoneum	UBERON:0002358	93.77	gold quality
spleen	UBERON:0002106	93.72	gold quality
adipose tissue of abdominal region	UBERON:0007808	93.60	gold quality
pituitary gland	UBERON:0000007	93.52	gold quality
left adrenal gland	UBERON:0001234	93.44	gold quality
left adrenal gland cortex	UBERON:0035825	93.43	gold quality
adenohypophysis	UBERON:0002196	93.42	gold quality
right testis	UBERON:0004534	93.40	gold quality
left testis	UBERON:0004533	93.37	gold quality
right adrenal gland cortex	UBERON:0035827	93.34	gold quality
right adrenal gland	UBERON:0001233	93.33	gold quality
left uterine tube	UBERON:0001303	93.13	gold quality
upper lobe of left lung	UBERON:0008952	92.87	gold quality
adrenal cortex	UBERON:0001235	92.83	gold quality
right lobe of thyroid gland	UBERON:0001119	92.69	gold quality
stromal cell of endometrium	CL:0002255	92.59	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	8.66

Regulation

Is transcription factor: no

Literature-anchored findings (GeneRIF, showing 3)

• High-throughput mass spectrometry screening for inhibitors of PISD is reported. (PMID:17478478)
• the biallelic hypomorphic PISD variant p.(Cys266Tyr) is associated with a novel Spondyloepimetaphyseal dysplasias form. (PMID:30488656)
• Conditional targeting of phosphatidylserine decarboxylase to lipid droplets. (PMID:33593792)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	pisd	ENSDARG00000052462
mus_musculus	Pisd	ENSMUSG00000023452
		ENSMUSG00000095041
rattus_norvegicus	Pisd	ENSRNOG00000018319
drosophila_melanogaster	Pisd	FBGN0026576
caenorhabditis_elegans		WBGENE00015159

Protein

Protein identifiers

Phosphatidylserine decarboxylase proenzyme, mitochondrial — Q9UG56 (reviewed: Q9UG56)

All UniProt accessions (7): Q9UG56, B1AKM6, B1AKM8, B1AKM9, B1AKN0, F8WCS6, H0Y7P7

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the formation of phosphatidylethanolamine (PtdEtn) from phosphatidylserine (PtdSer). Plays a central role in phospholipid metabolism and in the interorganelle trafficking of phosphatidylserine. May be involved in lipid droplet biogenesis at the endoplasmic reticulum membrane.

Subunit / interactions. Heterodimer of a large membrane-associated beta subunit and a small pyruvoyl-containing alpha subunit.

Subcellular location. Mitochondrion inner membrane Mitochondrion inner membrane. Cytoplasm Mitochondrion inner membrane Mitochondrion inner membrane. Lipid droplet.

Post-translational modifications. Is synthesized initially as an inactive proenzyme. Formation of the active enzyme involves a self-maturation process in which the active site pyruvoyl group is generated from an internal serine residue via an autocatalytic post-translational modification. Two non-identical subunits are generated from the proenzyme in this reaction, and the pyruvate is formed at the N-terminus of the alpha chain, which is derived from the carboxyl end of the proenzyme. The autoendoproteolytic cleavage occurs by a canonical serine protease mechanism, in which the side chain hydroxyl group of the serine supplies its oxygen atom to form the C-terminus of the beta chain, while the remainder of the serine residue undergoes an oxidative deamination to produce ammonia and the pyruvoyl prosthetic group on the alpha chain. During this reaction, the Ser that is part of the protease active site of the proenzyme becomes the pyruvoyl prosthetic group, which constitutes an essential element of the active site of the mature decarboxylase.

Disease relevance. Liberfarb syndrome (LIBF) [MIM:618889] An autosomal recessive multisystem disorder affecting the eye, ear, bone, and brain development. Clinical features include early-onset retinal degeneration, congenital cataracts, sensorineural hearing loss, microcephaly, intellectual disability, white matter changes, mild facial dysmorphism, and skeletal dysplasia with platyspondyly, scoliosis and short stature. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 pyruvoyl group covalently per subunit.

Pathway. Phospholipid metabolism; phosphatidylethanolamine biosynthesis.

Similarity. Belongs to the phosphatidylserine decarboxylase family. PSD-B subfamily. Eukaryotic type I sub-subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UG56-3	1, PISD-M	yes
Q9UG56-2	2, PISD-LD

RefSeq proteins (13): NP_001313340, NP_001313341, NP_001313342, NP_001313343, NP_001313344, NP_001313345, NP_001313346, NP_001313347, NP_001313348, NP_001313349, NP_001313350, NP_055153, NP_821141 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003817	PS_Dcarbxylase	Family
IPR033177	PSD-B	Family
IPR033661	PSD_type1_euk	Family

Pfam: PF02666

Catalyzed reactions (Rhea), 1 shown:

• a 1,2-diacyl-sn-glycero-3-phospho-L-serine + H(+) = a 1,2-diacyl-sn-glycero-3-phosphoethanolamine + CO2 (RHEA:20828)

UniProt features (18 total): active site 4, chain 3, sequence variant 2, topological domain 2, transit peptide 1, site 1, modified residue 1, splice variant 1, mutagenesis site 1, region of interest 1, transmembrane region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UG56-F1	78.13	0.38

Functional residue map

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

Catalytic / active sites (5): 378 (schiff-base intermediate with substrate; via pyruvic acid; for decarboxylase activity); 377–378 (cleavage (non-hydrolytic); by autocatalysis); 191 (charge relay system; for autoendoproteolytic cleavage activity); 267 (charge relay system; for autoendoproteolytic cleavage activity); 378 (charge relay system; for autoendoproteolytic cleavage activity)

Post-translational modifications (1): 378

Mutagenesis-validated functional residues (1):

Position	Phenotype
378	loss of autocatalytic processing.

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-1483213	Synthesis of PE

MSigDB gene sets: 270 (showing top): GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PHOSPHOLIPID_BIOSYNTHETIC_PROCESS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS, GOBP_REGULATION_OF_MITOCHONDRION_ORGANIZATION, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, GOBP_PROTEIN_MATURATION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOCC_MITOCHONDRIAL_ENVELOPE, GOBP_ORGANELLE_ASSEMBLY, GOBP_GLYCEROLIPID_BIOSYNTHETIC_PROCESS

GO Biological Process (7): phosphatidylethanolamine biosynthetic process (GO:0006646), regulation of mitochondrion organization (GO:0010821), protein autoprocessing (GO:0016540), mitochondrial protein catabolic process (GO:0035694), lipid droplet formation (GO:0140042), lipid metabolic process (GO:0006629), phospholipid biosynthetic process (GO:0008654)

GO Molecular Function (4): phosphatidylserine decarboxylase activity (GO:0004609), protein binding (GO:0005515), lyase activity (GO:0016829), carboxy-lyase activity (GO:0016831)

GO Cellular Component (8): nucleus (GO:0005634), mitochondrion (GO:0005739), mitochondrial inner membrane (GO:0005743), Golgi apparatus (GO:0005794), lipid droplet (GO:0005811), cytosol (GO:0005829), cytoplasm (GO:0005737), membrane (GO:0016020)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Glycerophospholipid biosynthesis	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
intracellular membrane-bounded organelle	3
cytoplasm	3
cellular anatomical structure	3
mitochondrion organization	2
phosphatidylethanolamine metabolic process	1
glycerophospholipid biosynthetic process	1
regulation of organelle organization	1
protein processing	1
mitochondrion	1
protein catabolic process	1
lipid storage	1
lipid droplet organization	1
membraneless organelle assembly	1
primary metabolic process	1
phospholipid metabolic process	1
lipid biosynthetic process	1
organophosphate biosynthetic process	1
carboxy-lyase activity	1
binding	1
catalytic activity	1
carbon-carbon lyase activity	1
organelle inner membrane	1
mitochondrial membrane	1
endomembrane system	1
intracellular membraneless organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PISD	PCYT2	Q99447	984
PISD	PTDSS2	Q9BVG9	792
PISD	PTDSS1	P48651	792
PISD	PEMT	Q9UBM1	775
PISD	GLB1	P16278	773
PISD	CEPT1	Q9Y6K0	715
PISD	ETNK2	Q9NVF9	662
PISD	CDIPT	O14735	628
PISD	SELENOI	Q9C0D9	626
PISD	CHKA	P35790	623
PISD	ETNK1	Q9HBU6	621
PISD	CHKB	Q9Y259	619
PISD	PSD	A5PKW4	602
PISD	PSD2	Q9BQI7	593
PISD	CHPT1	Q8WUD6	572

IntAct

61 interactions, top by confidence:

A	B	Type	Score
WDR19	TULP3	psi-mi:“MI:0914”(association)	0.860
STK16	UNC119B	psi-mi:“MI:0914”(association)	0.530
CXCR4	FANCA	psi-mi:“MI:0914”(association)	0.530
IFT140	ACSL3	psi-mi:“MI:0914”(association)	0.510
CFTR	PISD	psi-mi:“MI:0915”(physical association)	0.370
RIPK4	VWA8	psi-mi:“MI:0914”(association)	0.350
HSCB	RBP5	psi-mi:“MI:0914”(association)	0.350
LRRK2		psi-mi:“MI:0914”(association)	0.350
NS3	C15orf61	psi-mi:“MI:0914”(association)	0.350
	TMEM223	psi-mi:“MI:0914”(association)	0.350
DNAJA2	DENND11	psi-mi:“MI:0914”(association)	0.350
PISD	IGLL5	psi-mi:“MI:0914”(association)	0.350
C1QA	MANBA	psi-mi:“MI:0914”(association)	0.350
GPR182	SLC12A8	psi-mi:“MI:0914”(association)	0.350
PCDHB3	ESYT2	psi-mi:“MI:0914”(association)	0.350
CLEC4E	ESYT2	psi-mi:“MI:0914”(association)	0.350
HLA-C	TMEM131L	psi-mi:“MI:0914”(association)	0.350
PCDHB7	TMEM131L	psi-mi:“MI:0914”(association)	0.350
BRICD5	TMEM131L	psi-mi:“MI:0914”(association)	0.350
SLC22A9	TMEM131L	psi-mi:“MI:0914”(association)	0.350
HLA-DQA1	TMEM131L	psi-mi:“MI:0914”(association)	0.350
LDLRAD1	ZNF316	psi-mi:“MI:0914”(association)	0.350
MFSD4A	UBXN8	psi-mi:“MI:0914”(association)	0.350
AQP3	UBXN8	psi-mi:“MI:0914”(association)	0.350
NUBP2	TK2	psi-mi:“MI:0914”(association)	0.350
HYAL1	CDIPT	psi-mi:“MI:0914”(association)	0.350
VSIG4	TNFRSF10B	psi-mi:“MI:0914”(association)	0.350
BSG	TNPO2	psi-mi:“MI:0914”(association)	0.350

BioGRID (79): PISD (Affinity Capture-MS), PISD (Affinity Capture-MS), IFT140 (Affinity Capture-MS), WDR19 (Affinity Capture-MS), PISD (Affinity Capture-RNA), PISD (Affinity Capture-MS), PISD (Affinity Capture-MS), PISD (Affinity Capture-MS), PISD (Affinity Capture-RNA), PISD (Affinity Capture-MS), DHX29 (Two-hybrid), DAGLB (Two-hybrid), PISD (Two-hybrid), PISD (Affinity Capture-MS), PISD (Affinity Capture-MS)

ESM2 similar proteins: A0A3L7I2I8, B1WC37, D2XV59, O00178, O08582, O60733, O75648, P08760, P11029, P11497, P42694, P97570, P97819, Q05B63, Q13085, Q14749, Q28559, Q28DS0, Q29555, Q4R4U1, Q503J2, Q58DC5, Q5I0K3, Q5R5F8, Q5R8I8, Q5R962, Q5RB73, Q5SWU9, Q5ZKW0, Q6DC64, Q6DFV5, Q6IS24, Q6NYU2, Q6P4H8, Q6YJI5, Q7Z4G4, Q80YV4, Q8CIW5, Q8JGT5, Q8N0X4

Diamond homologs: A0Q562, A4IZN0, A7NAF0, B0TZM7, B2SFB2, B2UVC1, B3L2V1, B6JNM7, D3ZAW2, O25911, P27465, P39006, Q0BN99, Q10949, Q14J65, Q1CRQ1, Q1PCQ8, Q2A4Y0, Q58DH2, Q5NHR3, Q5R8I8, Q8BSF4, Q9GPP8, Q9UG56, Q9UTB5, Q9ZJN0, A1U4D6, A3D015, A4G529, A4VR22, A4XPX3, A5IIH5, A5W9U4, A6TH77, A6VD70, A6WSW1, A7ZV31, A8A7Q7, A9KEZ8, A9L3W8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	2
Uncertain significance	95
Likely benign	69
Benign	11

Top pathogenic / likely-pathogenic (7)

Variant ID	HGVS	Classification
1470810	NM_001326411.2(PISD):c.337dup (p.Ser113fs)	Pathogenic
2807239	NM_001326411.2(PISD):c.643del (p.Leu215fs)	Pathogenic
3625651	NM_001326411.2(PISD):c.175C>T (p.Arg59Ter)	Pathogenic
4802627	NM_001326411.2(PISD):c.51_52insT (p.Pro18fs)	Pathogenic
694325	NM_001326411.2(PISD):c.1006-12_1006-3del	Pathogenic
2696718	NM_001326411.2(PISD):c.845-2A>G	Likely pathogenic
2700183	NM_001326411.2(PISD):c.698-2A>G	Likely pathogenic

SpliceAI

0 predictions. Top by Δscore:

AlphaMissense

2649 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
22:31619720:G:C	F374L	0.999
22:31619720:G:T	F374L	0.999
22:31619721:A:G	F374S	0.999
22:31619722:A:G	F374L	0.999
22:31620599:G:T	A320D	0.999
22:31620609:A:G	S317P	0.999
22:31620647:C:G	R304P	0.999
22:31620650:T:A	E303V	0.999
22:31621007:C:G	R278P	0.999
22:31621010:C:G	R277P	0.999
22:31621026:A:G	W272R	0.999
22:31621026:A:T	W272R	0.999
22:31621050:G:C	H264D	0.999
22:31621067:A:G	L258P	0.999
22:31621456:C:T	G192E	0.999
22:31621465:G:T	P189Q	0.999
22:31621467:G:C	S188R	0.999
22:31621467:G:T	S188R	0.999
22:31621469:T:G	S188R	0.999
22:31621696:G:T	R171S	0.999
22:31619697:A:G	L382P	0.998
22:31619710:A:G	S378P	0.998
22:31619713:C:G	G377R	0.998
22:31620627:A:G	W311R	0.998
22:31620627:A:T	W311R	0.998
22:31620632:C:T	G309E	0.998
22:31620633:C:A	G309W	0.998
22:31621456:C:A	G192V	0.998
22:31621457:C:G	G192R	0.998
22:31621457:C:T	G192R	0.998

dbSNP variants (sampled 300 via entrez): RS1000008618 (22:31650325 C>A), RS1000062272 (22:31644966 T>C), RS1000120985 (22:31624089 C>A,G,T), RS1000193756 (22:31650723 G>C), RS1000326244 (22:31661753 A>G), RS1000346713 (22:31632709 G>A), RS1000389755 (22:31618808 C>T), RS1000413619 (22:31644733 C>T), RS1000440339 (22:31627081 G>A), RS1000591210 (22:31662187 G>A,C,T), RS1000761041 (22:31638455 T>G), RS1000940448 (22:31657132 T>C), RS1000989189 (22:31644914 C>G,T), RS1001070561 (22:31651319 C>T), RS1001098053 (22:31632005 G>C)

Disease associations

OMIM: gene MIM:612770 | disease phenotypes: MIM:618889

GenCC curated gene-disease

Disease	Classification	Inheritance
Liberfarb syndrome	Strong	Autosomal recessive

ClinGen Gene-Disease Validity (1)

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

Disease	Classification	Inheritance
Liberfarb syndrome	Moderate	AR

Mondo (1): Liberfarb syndrome (MONDO:0030045)

Orphanet (1): Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome (Orphanet:589442)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000252	Microcephaly
HP:0000407	Sensorineural hearing impairment
HP:0000543	Optic disc pallor
HP:0000546	Retinal degeneration
HP:0001249	Intellectual disability
HP:0001263	Global developmental delay
HP:0002650	Scoliosis
HP:0002663	Delayed epiphyseal ossification
HP:0004322	Short stature
HP:0007737	Spicular pigmentation of the retina
HP:0007814	Retinal pigment epithelial mottling
HP:0031367	Metaphyseal striations

GWAS associations

0 associations (top):

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Decarboxylases

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Cadmium Chloride	increases abundance, increases expression, decreases expression	3
Ozone	affects cotreatment, increases expression, affects expression, increases abundance	2
Valproic Acid	affects expression, affects methylation, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
sodium arsenite	increases abundance, increases expression	1
perfluorooctanoic acid	decreases expression	1
methacrylaldehyde	affects cotreatment, increases expression	1
beta-methylcholine	affects expression	1
celastrol	increases expression	1
perfluorooctane sulfonic acid	increases expression	1
ICG 001	decreases expression	1
abrine	increases expression	1
perfluorobutanesulfonic acid	decreases expression	1
bisphenol S	decreases methylation	1
Temozolomide	increases expression	1
Zoledronic Acid	increases expression	1
Acrolein	affects cotreatment, increases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Cadmium	increases abundance, increases expression	1
Diazinon	increases methylation	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, decreases expression, increases expression	1
Fluorouracil	affects response to substance	1
Methotrexate	decreases expression	1
Smoke	decreases expression	1
Tetrachlorodibenzodioxin	affects cotreatment, decreases expression	1

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_E2GS	HAP1 PISD (-) 2	Cancer cell line	Male
CVCL_XR61	HAP1 PISD (-) 1	Cancer cell line	Male

Clinical trials (associated diseases)

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