PRDM8

Summary

PRDM8 (PR/SET domain 8, HGNC:13993) is a protein-coding gene on chromosome 4q21.21, encoding PR domain zinc finger protein 8 (Q9NQV8). Probable histone methyltransferase, preferentially acting on ‘Lys-9’ of histone H3.

This gene encodes a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 56978 — RefSeq curated summary.

At a glance

• Gene–disease (curated): early-onset Lafora body disease (Strong, GenCC)
• GWAS associations: 52
• Clinical variants (ClinVar): 416 total — 1 pathogenic
• Phenotypes (HPO): 25
• Druggable target: yes
• MANE Select transcript: NM_001099403

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:13993
Approved symbol	PRDM8
Name	PR/SET domain 8
Location	4q21.21
Locus type	gene with protein product
Status	Approved
Aliases	KMT8D
Ensembl gene	ENSG00000152784
Ensembl biotype	protein_coding
OMIM	616639
Entrez	56978

Gene structure

Transcript identifiers

Ensembl transcripts: 16 — 10 protein_coding, 6 protein_coding_CDS_not_defined

ENST00000339711, ENST00000415738, ENST00000504452, ENST00000506547, ENST00000507025, ENST00000508061, ENST00000508965, ENST00000509375, ENST00000511825, ENST00000515013, ENST00000861821, ENST00000861822, ENST00000952373, ENST00000952374, ENST00000952375, ENST00000952376

RefSeq mRNA: 2 — MANE Select: NM_001099403 NM_001099403, NM_020226

CCDS: CCDS43243

Canonical transcript exons

ENST00000415738 — 4 exons

Exon	Start	End
ENSE00001007102	80201290	80201521
ENSE00001007107	80200079	80200299
ENSE00001792844	80197503	80197763
ENSE00002075265	80201914	80204329

Expression profiles

Bgee: expression breadth ubiquitous, 159 present calls, max score 96.91.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.5828 / max 616.5629, expressed in 1064 samples.

FANTOM5 promoters (8 alternative TSS)

Promoter ID	TPM avg	Samples expressed
48522	7.4075	556
48516	1.4346	488
48519	0.7135	315
48518	0.6530	332
48515	0.4987	226
48517	0.4418	223
48520	0.2236	81
48521	0.2101	74

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
cortical plate	UBERON:0005343	96.91	gold quality
ganglionic eminence	UBERON:0004023	94.58	gold quality
mucosa of stomach	UBERON:0001199	88.92	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	88.63	gold quality
Brodmann (1909) area 9	UBERON:0013540	88.32	gold quality
lower esophagus muscularis layer	UBERON:0035833	87.93	gold quality
lower esophagus	UBERON:0013473	87.84	gold quality
right frontal lobe	UBERON:0002810	87.00	gold quality
prefrontal cortex	UBERON:0000451	85.90	gold quality
anterior cingulate cortex	UBERON:0009835	85.81	gold quality
muscle layer of sigmoid colon	UBERON:0035805	83.83	gold quality
body of uterus	UBERON:0009853	83.48	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	82.95	gold quality
stromal cell of endometrium	CL:0002255	82.17	gold quality
endocervix	UBERON:0000458	82.13	gold quality
neocortex	UBERON:0001950	81.62	gold quality
frontal cortex	UBERON:0001870	80.90	gold quality
ectocervix	UBERON:0012249	80.31	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	80.15	gold quality
granulocyte	CL:0000094	79.03	gold quality
amygdala	UBERON:0001876	78.96	gold quality
prostate gland	UBERON:0002367	78.78	gold quality
cerebral cortex	UBERON:0000956	78.53	gold quality
left uterine tube	UBERON:0001303	78.26	gold quality
right ovary	UBERON:0002118	78.07	gold quality
left ovary	UBERON:0002119	77.13	gold quality
calcaneal tendon	UBERON:0003701	76.76	gold quality
esophagus	UBERON:0001043	76.58	gold quality
spinal cord	UBERON:0002240	76.56	gold quality
vermiform appendix	UBERON:0001154	76.42	gold quality

Single-cell (SCXA)

Detected in 6 experiment(s), a significant marker in 4.

Experiment	Marker?	Max mean expression
E-MTAB-11121	yes	1055.89
E-GEOD-137537	yes	625.20
E-GEOD-75140	yes	166.42
E-MTAB-7316	yes	30.67
E-CURD-11	no	31.63
E-ANND-3	no	2.75

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CYP17A1	Repression

Upstream regulators (CollecTRI, top): GLI1, MYC

miRNA regulators (miRDB)

85 targeting PRDM8, 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-574-5P	100.00	66.01	989
HSA-MIR-3185	99.99	68.12	1959
HSA-MIR-4789-3P	99.99	70.75	2484
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-302E	99.96	70.74	2669
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-2110	99.96	66.68	1930
HSA-MIR-302A-3P	99.89	71.23	1777
HSA-MIR-302B-3P	99.89	71.23	1777
HSA-MIR-302C-3P	99.89	71.20	1778
HSA-MIR-302D-3P	99.89	71.25	1777
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-1343-3P	99.89	66.78	1815
HSA-MIR-4447	99.85	67.81	2900
HSA-MIR-373-3P	99.84	70.68	1668
HSA-MIR-520E-3P	99.84	70.55	1698
HSA-MIR-372-3P	99.83	70.58	1691
HSA-MIR-520A-3P	99.83	70.59	1687
HSA-MIR-520B-3P	99.83	70.56	1699
HSA-MIR-520C-3P	99.83	70.56	1699
HSA-MIR-520D-3P	99.83	70.78	1676
HSA-MIR-520F-3P	99.82	71.32	1216
HSA-MIR-944	99.82	70.85	3042
HSA-MIR-4420	99.82	70.08	1624
HSA-MIR-181B-2-3P	99.81	70.06	1646
HSA-MIR-181B-3P	99.81	70.06	1646
HSA-MIR-204-5P	99.79	71.62	2439
HSA-MIR-211-5P	99.79	71.65	2440
HSA-MIR-556-3P	99.74	68.75	1203

Literature-anchored findings (GeneRIF, showing 4)

• Aberrant hypermethylation is particularly observed in PRDM8 and this may support identification and classification of bone marrow failure syndromes (PMID:26909595)
• alteration of hydroxymethylation and methylation of PRDM8 correlates with changes in its expression in the peripheral blood of children with DS. Given the proposed function of PRDM8 in cognitive disability in DS (PMID:27278638)
• Through regulating NAP1L1, PRDM8 inhibits PI3K/AKT/mTOR signaling in hepatocellular carcinoma. (PMID:29572888)
• PRDM8 reveals aberrant DNA methylation in aging syndromes and is relevant for hematopoietic and neuronal differentiation. (PMID:32819411)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	prdm8b	ENSDARG00000054683
mus_musculus	Prdm8	ENSMUSG00000035456
rattus_norvegicus	Prdm8	ENSRNOG00000002004
drosophila_melanogaster	CG13287	FBGN0035643

Paralogs (1): ZNF488 (ENSG00000265763)

Protein

Protein identifiers

PR domain zinc finger protein 8 — Q9NQV8 (reviewed: Q9NQV8)

Alternative names: PR domain-containing protein 8

All UniProt accessions (2): Q9NQV8, E9PEH0

UniProt curated annotations — full annotation on UniProt →

Function. Probable histone methyltransferase, preferentially acting on ‘Lys-9’ of histone H3. Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR. Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation. In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival.

Subunit / interactions. Interacts with EPM2A and NHLRC1. This interaction sequesters EPM2A and NHLRC1 to the nucleus. Interacts with BHLHE22.

Subcellular location. Nucleus.

Tissue specificity. Expressed in brain, heart, skeletal muscle, testes, prostate.

Disease relevance. Epilepsy, progressive myoclonic 10 (EPM10) [MIM:616640] A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the class V-like SAM-binding methyltransferase superfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9NQV8-1	1	yes
Q9NQV8-2	2

RefSeq proteins (2): NP_001092873, NP_064611 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001214	SET_dom	Domain
IPR013087	Znf_C2H2_type	Domain
IPR036236	Znf_C2H2_sf	Homologous_superfamily
IPR044402	PRDM8-like_PR/SET	Domain
IPR046341	SET_dom_sf	Homologous_superfamily
IPR052296	TR-Histone_Methyltrans	Family

Pfam: PF13894, PF21549

UniProt features (20 total): compositionally biased region 6, sequence conflict 3, zinc finger region 3, splice variant 2, region of interest 2, chain 1, domain 1, binding site 1, sequence variant 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9NQV8-F1	55.64	0.15

Functional residue map

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

Ligand- & substrate-binding residues (1): 130

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-9762293	Regulation of CDH11 gene transcription

MSigDB gene sets: 216 (showing top): TAATAAT_MIR126, MODULE_255, SP3_Q3, GOBP_GLIAL_CELL_DEVELOPMENT, MODULE_317, GOBP_NEUROGENESIS, CAGCTG_AP4_Q5, GOBP_FOREBRAIN_DEVELOPMENT, REACTOME_ADHERENS_JUNCTIONS_INTERACTIONS, GOBP_CENTRAL_NERVOUS_SYSTEM_NEURON_DIFFERENTIATION, GOBP_CENTRAL_NERVOUS_SYSTEM_PROJECTION_NEURON_AXONOGENESIS, GATA1_03, GOBP_HEAD_DEVELOPMENT, NKX25_01, DOUGLAS_BMI1_TARGETS_UP

GO Biological Process (10): regulation of DNA-templated transcription (GO:0006355), oligodendrocyte development (GO:0014003), corpus callosum morphogenesis (GO:0021540), corticospinal tract morphogenesis (GO:0021957), methylation (GO:0032259), chromatin remodeling (GO:0006338), nervous system development (GO:0007399), central nervous system projection neuron axonogenesis (GO:0021952), neurogenesis (GO:0022008), negative regulation of DNA-templated transcription (GO:0045892)

GO Molecular Function (10): DNA binding (GO:0003677), chromatin binding (GO:0003682), transcription corepressor activity (GO:0003714), zinc ion binding (GO:0008270), histone H3K9 methyltransferase activity (GO:0046974), protein binding (GO:0005515), methyltransferase activity (GO:0008168), transferase activity (GO:0016740), histone methyltransferase activity (GO:0042054), metal ion binding (GO:0046872)

GO Cellular Component (3): nucleus (GO:0005634), nucleoplasm (GO:0005654), nuclear body (GO:0016604)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Regulation of CDH11 Expression and Function	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
DNA-templated transcription	2
central nervous system projection neuron axonogenesis	2
binding	2
regulation of gene expression	1
regulation of RNA biosynthetic process	1
glial cell development	1
oligodendrocyte differentiation	1
corpus callosum development	1
metabolic process	1
chromatin organization	1
system development	1
central nervous system neuron axonogenesis	1
nervous system development	1
cell differentiation	1
regulation of DNA-templated transcription	1
negative regulation of RNA biosynthetic process	1
nucleic acid binding	1
transcription coregulator activity	1
negative regulation of DNA-templated transcription	1
transition metal ion binding	1
protein-lysine N-methyltransferase activity	1
histone H3 methyltransferase activity	1
transferase activity, transferring one-carbon groups	1
catalytic activity	1
protein methyltransferase activity	1
histone modifying activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
nucleoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

788 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
PRDM8	BHLHE22	Q8NFJ8	868
PRDM8	NHLRC1	Q6VVB1	730
PRDM8	EPM2A	O95278	640
PRDM8	PRDM5	Q9NQX1	622
PRDM8	PRDM6	Q9NQX0	618
PRDM8	PRDM2	Q13029	595
PRDM8	PRDM10	Q9NQV6	540
PRDM8	PRDM15	P57071	517
PRDM8	VSX1	Q9NZR4	509
PRDM8	PRDM11	Q9NQV5	495
PRDM8	PRDM16	Q9HAZ2	485
PRDM8	ANTXR2	P58335	482
PRDM8	MECOM	Q03112	460
PRDM8	TMEM215	Q68D42	458
PRDM8	IQUB	Q8NA54	446

IntAct

0 interactions, top by confidence:

BioGRID (6): PRDM8 (Affinity Capture-MS), PRDM8 (Affinity Capture-RNA), PRDM8 (Cross-Linking-MS (XL-MS)), PRDM8 (Affinity Capture-RNA), PRDM8 (Affinity Capture-Western), NHLRC1 (Affinity Capture-Western)

ESM2 similar proteins: A1YF08, A1YG85, A2A9A2, A2T756, A6NCS4, A6NJT0, A6YP92, D4A8X0, E9PZZ1, G3UXB3, O08934, O09029, O35085, O35392, O70220, P09084, P17542, P22091, P23683, P31260, P31277, P31310, P49640, P50548, P52945, P70459, P78413, P82976, P97830, Q12952, Q14526, Q14549, Q5F293, Q5SQQ9, Q5TGY3, Q60843, Q63244, Q64731, Q6BEB4, Q71T09

Diamond homologs: A0A163UT06, A2A935, A2AGX3, A2AJ77, B8A5Y1, E9Q3T6, O75626, P0C6Y7, P14404, Q03112, Q13029, Q3UZD5, Q60636, Q63755, Q6P2A1, Q8BZ97, Q96EQ9, Q9GZV8, Q9H4Q4, Q9HAZ2, Q9NQV5, Q9NQV7, Q9NQV8, Q9NQW5, A6QPM3, Q9CXE0, Q9NQX0, Q9NQX1, E9PZZ1, Q5HZG9, Q96MN9, Q9H4Q3, A2BID7, Q6DCW1, Q9VH70, B1AUS7, O60224, P52736, Q16384, Q16385

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	250
Likely benign	148
Benign	14

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
217865	NM_001099403.2(PRDM8):c.781T>C (p.Phe261Leu)	Pathogenic

SpliceAI

1648 predictions. Top by Δscore:

Variant	Effect	Δscore
4:80197763:GGT:G	donor_loss	1.0000
4:80197764:G:T	donor_loss	1.0000
4:80200062:T:A	acceptor_gain	1.0000
4:80200064:T:TA	acceptor_gain	1.0000
4:80200066:T:TA	acceptor_gain	1.0000
4:80200071:A:AG	acceptor_gain	1.0000
4:80200072:T:G	acceptor_gain	1.0000
4:80200074:TCCAG:T	acceptor_loss	1.0000
4:80200075:CCAGT:C	acceptor_loss	1.0000
4:80200077:A:AG	acceptor_gain	1.0000
4:80200077:A:T	acceptor_loss	1.0000
4:80200077:AGT:A	acceptor_gain	1.0000
4:80200078:G:GA	acceptor_gain	1.0000
4:80200078:GT:G	acceptor_gain	1.0000
4:80200078:GTG:G	acceptor_gain	1.0000
4:80200078:GTGA:G	acceptor_gain	1.0000
4:80200078:GTGAT:G	acceptor_gain	1.0000
4:80200298:GG:G	donor_gain	1.0000
4:80200299:GG:G	donor_gain	1.0000
4:80200300:G:A	donor_loss	1.0000
4:80200300:G:GG	donor_gain	1.0000
4:80200301:T:TC	donor_loss	1.0000
4:80184349:GCG:G	donor_gain	0.9900
4:80191570:G:GG	donor_gain	0.9900
4:80196485:C:T	donor_gain	0.9900
4:80197056:GGC:G	donor_gain	0.9900
4:80197075:C:G	donor_gain	0.9900
4:80197624:GGAA:G	acceptor_gain	0.9900
4:80197764:G:GG	donor_gain	0.9900
4:80200059:T:TA	acceptor_gain	0.9900

AlphaMissense

4443 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
4:80200166:T:A	V29D	1.000
4:80200204:G:C	G42R	1.000
4:80200205:G:A	G42D	1.000
4:80200247:C:A	A56D	1.000
4:80200256:C:A	A59D	1.000
4:80201332:T:A	W88R	1.000
4:80201332:T:C	W88R	1.000
4:80201336:T:C	L89P	1.000
4:80201345:T:A	V92D	1.000
4:80201378:T:C	L103P	1.000
4:80201383:G:C	A105P	1.000
4:80201384:C:A	A105D	1.000
4:80201414:G:C	R115P	1.000
4:80201447:T:C	L126S	1.000
4:80201450:T:C	L127P	1.000
4:80201453:T:A	V128D	1.000
4:80201455:T:A	W129R	1.000
4:80201455:T:C	W129R	1.000
4:80201931:T:C	C157R	1.000
4:80201994:T:C	C178R	1.000
4:80203337:C:A	N625K	1.000
4:80203337:C:G	N625K	1.000
4:80203341:T:A	C627S	1.000
4:80203341:T:C	C627R	1.000
4:80203342:G:A	C627Y	1.000
4:80203342:G:C	C627S	1.000
4:80203342:G:T	C627F	1.000
4:80203343:C:G	C627W	1.000
4:80203350:T:A	C630S	1.000
4:80203350:T:C	C630R	1.000

dbSNP variants (sampled 300 via entrez): RS1000224741 (4:80202654 C>T), RS1000360289 (4:80190491 T>C), RS1000498328 (4:80197859 AAG>A), RS1000550496 (4:80203995 A>G), RS1000585322 (4:80197887 C>G,T), RS1000674421 (4:80204190 A>T), RS1000694111 (4:80191994 T>C), RS1000955374 (4:80192215 C>A,T), RS1000989578 (4:80187462 T>G), RS10011377 (4:80190129 G>A), RS1001205967 (4:80198036 A>G), RS1001271399 (4:80186148 A>G), RS1001276014 (4:80187714 C>T), RS10013037 (4:80193006 T>C), RS10013909 (4:80194125 A>C,G)

Disease associations

OMIM: gene MIM:616639 | disease phenotypes: MIM:616640

GenCC curated gene-disease

Disease	Classification	Inheritance
early-onset Lafora body disease	Strong	Autosomal recessive

Mondo (1): early-onset Lafora body disease (MONDO:0014717)

Orphanet (1): PRDM8-related progressive myoclonus epilepsy (Orphanet:324290)

HPO phenotypes

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

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000020	Urinary incontinence
HP:0000708	Atypical behavior
HP:0000709	Psychosis
HP:0000726	Dementia
HP:0000738	Hallucinations
HP:0001250	Seizure
HP:0001251	Ataxia
HP:0001257	Spasticity
HP:0001260	Dysarthria
HP:0001268	Mental deterioration
HP:0001285	Spastic tetraparesis
HP:0001289	Confusion
HP:0001336	Myoclonus
HP:0001347	Hyperreflexia
HP:0002073	Progressive cerebellar ataxia
HP:0002123	Generalized myoclonic seizure
HP:0002300	Mutism
HP:0002497	Spastic ataxia
HP:0002510	Spastic tetraplegia
HP:0003676	Progressive
HP:0003828	Variable expressivity
HP:0011999	Paranoia
HP:0100318	Lafora bodies
HP:0100543	Cognitive impairment

GWAS associations

52 associations (top):

Study	Trait	p-value
GCST000394_1	Diastolic blood pressure	1.000000e-21
GCST002497_22	Blood pressure	9.000000e-08
GCST002497_23	Blood pressure	2.000000e-11
GCST003064_4	Exploratory eye movement dysfunction in schizophrenia (cognitive search score)	4.000000e-06
GCST004787_32	Coronary artery disease (myocardial infarction, percutaneous transluminal coronary angioplasty, coronary artery bypass grafting, angina or chromic ischemic heart disease)	6.000000e-09
GCST005116_25	Male-pattern baldness	5.000000e-25
GCST005978_9	Diastolic blood pressure	2.000000e-22
GCST005979_11	Systolic blood pressure	1.000000e-25
GCST005983_31	Serum uric acid levels	3.000000e-10
GCST005984_12	Glomerular filtration rate	2.000000e-14
GCST005985_66	Creatinine levels	2.000000e-16
GCST005986_6	Blood urea nitrogen levels	2.000000e-08
GCST005996_16	Red blood cell count	2.000000e-08
GCST006009_15	Pulse pressure	7.000000e-10
GCST006010_24	Mean arterial pressure	2.000000e-27
GCST006031_7	Potassium levels	1.000000e-21
GCST006061_135	Atrial fibrillation	7.000000e-06
GCST006661_21	Male-pattern baldness	6.000000e-13
GCST007094_55	Diastolic blood pressure	1.000000e-59
GCST007095_126	Systolic blood pressure	4.000000e-19
GCST007095_127	Systolic blood pressure	1.000000e-12
GCST007096_161	Pulse pressure	1.000000e-15
GCST007098_127	Diastolic blood pressure	9.000000e-24
GCST007098_78	Diastolic blood pressure	2.000000e-17
GCST007099_216	Systolic blood pressure	2.000000e-53
GCST007344_115	Estimated glomerular filtration rate	5.000000e-16
GCST007705_20	Pulse pressure	6.000000e-11
GCST007705_23	Pulse pressure	2.000000e-11
GCST007705_43	Pulse pressure	1.000000e-08
GCST007705_50	Pulse pressure	9.000000e-09

EFO canonical traits (10, from GWAS)

EFO ID	Trait name
EFO:0006336	diastolic blood pressure
EFO:0005763	pulse pressure measurement
EFO:0006335	systolic blood pressure
EFO:0007700	exploratory eye movement measurement
EFO:0004761	uric acid measurement
EFO:0004305	erythrocyte count
EFO:0006340	mean arterial pressure
EFO:0009283	potassium measurement
EFO:0007820	cognitive behavioural therapy
EFO:0004918	age at diagnosis

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5214864 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression, affects expression	2
Benzo(a)pyrene	affects methylation, increases expression	2
Tretinoin	affects cotreatment, decreases expression	2
aristolochic acid I	increases expression	1
triphenyl phosphate	affects expression	1
propionaldehyde	increases expression	1
2-methyl-4-isothiazolin-3-one	increases expression	1
arsenite	increases methylation	1
mono-(2-ethylhexyl)phthalate	increases abundance, increases methylation	1
butyraldehyde	increases expression	1
beta-methylcholine	affects expression	1
pentanal	increases expression	1
perfluorooctane sulfonic acid	decreases expression	1
CGP 52608	affects binding, increases reaction	1
ICG 001	decreases expression	1
abrine	increases expression	1
(+)-JQ1 compound	decreases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Temozolomide	decreases expression	1
Sunitinib	increases expression	1
Arsenic Trioxide	affects cotreatment, decreases expression	1
Air Pollutants	increases abundance, increases expression	1
Aldehydes	increases expression	1
Amiodarone	increases expression	1
Cytarabine	increases expression	1
Doxorubicin	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Phthalic Acids	increases abundance, increases methylation	1
Plant Extracts	affects cotreatment, decreases expression	1
Smoke	increases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5214665	Binding	Selectivity interaction (Methyltransferase panel (DSF assay)) EUB0000234b PRDM8	Selectivity Literature for EUbOPEN Chemogenomics Library wave 3

Clinical trials (associated diseases)

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