HSF2BP

Summary

HSF2BP (heat shock transcription factor 2 binding protein, HGNC:5226) is a protein-coding gene on chromosome 21q22.3, encoding Heat shock factor 2-binding protein (O75031). Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair.

HSF2 binding protein (HSF2BP) associates with HSF2. The interaction occurs between the trimerization domain of HSF2 and the amino terminal hydrophilic region of HSF2BP that comprises two leucine zipper motifs. HSF2BP may therefore be involved in modulating HSF2 activation.

Source: NCBI Gene 11077 — RefSeq curated summary.

At a glance

• Gene–disease (curated): premature ovarian failure 19 (Strong, GenCC)
• GWAS associations: 13
• Clinical variants (ClinVar): 68 total — 2 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 5
• MANE Select transcript: NM_007031

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:5226
Approved symbol	HSF2BP
Name	heat shock transcription factor 2 binding protein
Location	21q22.3
Locus type	gene with protein product
Status	Approved
Aliases	MEILB2
Ensembl gene	ENSG00000160207
Ensembl biotype	protein_coding
OMIM	604554
Entrez	11077

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000291560, ENST00000443485, ENST00000869315, ENST00000913674, ENST00000971003

RefSeq mRNA: 1 — MANE Select: NM_007031 NM_007031

CCDS: CCDS13697

Canonical transcript exons

ENST00000291560 — 9 exons

Exon	Start	End
ENSE00001050552	43613830	43613947
ENSE00001050553	43656587	43656737
ENSE00001050554	43630322	43630454
ENSE00001050558	43633272	43633421
ENSE00001050560	43592225	43592328
ENSE00001137985	43659386	43659488
ENSE00001137993	43529186	43529962
ENSE00001138002	43658061	43658320
ENSE00003689880	43644289	43644392

Expression profiles

Bgee: expression breadth ubiquitous, 124 present calls, max score 87.02.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 2.4910 / max 93.8257, expressed in 1071 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
190707	2.4168	1071
190705	0.0460	5
190706	0.0283	5

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	87.02	gold quality
left testis	UBERON:0004533	86.79	gold quality
testis	UBERON:0000473	86.45	gold quality
right testis	UBERON:0004534	86.45	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	83.09	gold quality
ventricular zone	UBERON:0003053	71.37	gold quality
ganglionic eminence	UBERON:0004023	70.20	gold quality
cortical plate	UBERON:0005343	68.24	gold quality
stromal cell of endometrium	CL:0002255	65.81	gold quality
placenta	UBERON:0001987	65.30	gold quality
sural nerve	UBERON:0015488	64.15	silver quality
prefrontal cortex	UBERON:0000451	62.12	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	60.54	gold quality
substantia nigra	UBERON:0002038	60.38	gold quality
calcaneal tendon	UBERON:0003701	59.48	gold quality
temporal lobe	UBERON:0001871	58.91	gold quality
amygdala	UBERON:0001876	58.88	gold quality
frontal cortex	UBERON:0001870	58.58	gold quality
hypothalamus	UBERON:0001898	58.29	gold quality
corpus callosum	UBERON:0002336	57.78	gold quality
cerebral cortex	UBERON:0000956	57.34	gold quality
islet of Langerhans	UBERON:0000006	56.83	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	56.65	gold quality
anterior cingulate cortex	UBERON:0009835	56.54	gold quality
ovary	UBERON:0000992	56.18	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	56.11	gold quality
tibial nerve	UBERON:0001323	55.75	gold quality
left ovary	UBERON:0002119	55.73	gold quality
Ammon’s horn	UBERON:0001954	55.69	gold quality
Brodmann (1909) area 9	UBERON:0013540	55.39	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.74

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

36 targeting HSF2BP, 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-3613-3P	100.00	76.36	7965
HSA-MIR-548N	99.98	71.94	4170
HSA-MIR-607	99.97	73.62	5593
HSA-MIR-9718	99.94	68.91	918
HSA-MIR-5680	99.91	69.83	3421
HSA-MIR-4527	99.66	67.43	714
HSA-MIR-6503-5P	99.62	66.96	597
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-513C-5P	99.50	68.42	1730
HSA-MIR-514B-5P	99.50	68.19	1766
HSA-MIR-365A-3P	99.43	70.02	836
HSA-MIR-365B-3P	99.43	70.02	836
HSA-MIR-5582-5P	99.27	71.42	1879
HSA-MIR-7109-5P	99.18	66.13	1057
HSA-MIR-4705	99.10	69.10	1091
HSA-MIR-4717-3P	99.06	66.34	1072
HSA-MIR-12135	98.99	70.26	1814
HSA-MIR-154-5P	98.92	66.65	733
HSA-MIR-4272	98.76	68.74	1810
HSA-MIR-4700-5P	98.63	67.43	1915
HSA-MIR-6887-5P	98.56	68.49	1295
HSA-MIR-6795-5P	98.52	68.51	1277
HSA-MIR-302F	98.44	69.02	1776
HSA-MIR-628-5P	98.36	67.74	844
HSA-MIR-6881-5P	98.16	67.38	665
HSA-MIR-93-3P	98.15	66.65	1309
HSA-MIR-197-3P	98.09	69.23	1004
HSA-MIR-8089	97.74	66.21	1698
HSA-MIR-299-3P	97.73	66.67	773
HSA-MIR-4667-5P	97.61	66.67	1683

Literature-anchored findings (GeneRIF, showing 3)

• Naturally occurring elevated production of HSF2BP in tumors may be a source of cancer-promoting genomic instability and also a targetable vulnerability. (PMID:31960047)
• BRCA2 binding through a cryptic repeated motif to HSF2BP oligomers does not impact meiotic recombination. (PMID:34326328)
• Structure of a meiosis-specific complex central to BRCA2 localization at recombination sites. (PMID:34373645)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	hsf2bp	ENSDARG00000035080
mus_musculus	Hsf2bp	ENSMUSG00000002076
rattus_norvegicus	Hsf2bp	ENSRNOG00000001193

Protein

Protein identifiers

Heat shock factor 2-binding protein — O75031 (reviewed: O75031)

All UniProt accessions (3): O75031, C9JSF2, Q6IAT7

UniProt curated annotations — full annotation on UniProt →

Function. Meiotic recombination factor component of recombination bridges involved in meiotic double-strand break repair. Modulates the localization of recombinases DMC1:RAD51 to meiotic double-strand break (DSB) sites through the interaction with BRCA2 and its recruitment during meiotic recombination. Indispensable for the DSB repair, homologous synapsis, and crossover formation that are needed for progression past metaphase I, is essential for spermatogenesis and male fertility. Required for proper recombinase recruitment in female meiosis. Inhibits BNC1 transcriptional activity during spermatogenesis, probably by sequestering it in the cytoplasm. May be involved in modulating HSF2 activation in testis.

Subunit / interactions. Associates with HSF2. The interaction seems to occur between the trimerization domain of HSF2 and the N-terminal hydrophilic region of HSF2BP. Interacts (via C-terminus) with BNC1. Interacts (via N-terminus) with BRCA2 and BRME1; the interactions are direct and allow the formation of a ternary complex. The complex BRME1:HSF2BP:BRCA2 interacts with SPATA22, MEIOB and RAD51.

Subcellular location. Cytoplasm. Chromosome.

Tissue specificity. Testis specific. Overexpressed in some tumors.

Post-translational modifications. Sumoylated by UBE2I in response to MEKK1-mediated stimuli.

Disease relevance. Premature ovarian failure 19 (POF19) [MIM:619245] A form of premature ovarian failure, an ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. POF19 is an autosomal recessive form characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life. The disease is caused by variants affecting the gene represented in this entry.

Isoforms (2)

UniProt ID	Names	Canonical?
O75031-1	1	yes
O75031-2	2

RefSeq proteins (1): NP_008962* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR039584	HSF2BP	Family

UniProt features (25 total): helix 14, strand 3, region of interest 2, chain 1, coiled-coil region 1, splice variant 1, sequence variant 1, mutagenesis site 1, sequence conflict 1

Structure

Experimental structures (PDB)

4 structures.

PDB	Method	Resolution (Å)
8A50	X-RAY DIFFRACTION	1.48
8A51	X-RAY DIFFRACTION	1.9
7LDG	X-RAY DIFFRACTION	2.56
7BDX	X-RAY DIFFRACTION	2.6

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O75031-F1	91.26	0.80

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 (1):

Position	Phenotype
200	abolishes interaction with brca2.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 106 (showing top): GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANELLE_FISSION, GOBP_DNA_DAMAGE_RESPONSE, GOBP_MALE_MEIOSIS_I, MORF_EPHA7, GOBP_FEMALE_GAMETE_GENERATION, GOBP_DEVELOPMENTAL_PROCESS_INVOLVED_IN_REPRODUCTION, GOBP_MEIOTIC_CELL_CYCLE_PROCESS, chr21q22, DANG_BOUND_BY_MYC, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR, SHEN_SMARCA2_TARGETS_DN, GOBP_MEIOTIC_CELL_CYCLE, BENPORATH_MYC_MAX_TARGETS, GOBP_CELL_CYCLE_PROCESS

GO Biological Process (5): transcription by RNA polymerase II (GO:0006366), male meiosis I (GO:0007141), female meiosis I (GO:0007144), spermatogenesis (GO:0007283), double-strand break repair involved in meiotic recombination (GO:1990918)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (4): nucleoplasm (GO:0005654), chromosome (GO:0005694), cytosol (GO:0005829), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	3
meiosis I	2
male gamete generation	2
meiotic cell cycle	2
DNA-templated transcription	1
male meiotic nuclear division	1
female meiotic nuclear division	1
female gamete generation	1
developmental process involved in reproduction	1
double-strand break repair	1
reciprocal meiotic recombination	1
meiotic cell cycle process	1
binding	1
nuclear lumen	1
intracellular membraneless organelle	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

642 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
HSF2BP	SPATA22	Q8NHS9	775
HSF2BP	BRME1	Q0VDD7	760
HSF2BP	MEIOB	Q8N635	689
HSF2BP	SYCE2	Q6PIF2	596
HSF2BP	TMEM183A	Q8IXX5	560
HSF2BP	HSF2	Q03933	555
HSF2BP	PALB2	Q86YC2	554
HSF2BP	SWSAP1	Q6NVH7	534
HSF2BP	LRRC42	Q9Y546	528
HSF2BP	SLCO6A1	Q86UG4	526
HSF2BP	RPA3	P35244	497
HSF2BP	HFM1	A2PYH4	494
HSF2BP	TEX15	Q9BXT5	490
HSF2BP	GPR137C	Q8N3F9	486
HSF2BP	RNF13	O43567	480
HSF2BP	UMODL1	Q5DID0	480

IntAct

916 interactions, top by confidence:

A	B	Type	Score
L3MBTL2	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	C1orf94	psi-mi:“MI:0915”(physical association)	0.000
KIF5B	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CFAP263	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
PRPF31	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
LGALS4	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
ZNF581	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CFAP90	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HEXIM2	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
RIBC1	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
PPM1K	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
ANKRD55	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
FAM124B	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
TCF19	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HNRNPH2	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	PICK1	psi-mi:“MI:0915”(physical association)	0.000
RNF135	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HSF2BP	PSTPIP1	psi-mi:“MI:0915”(physical association)	0.000
ZNF250	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CBX8	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CCDC198	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
POMC	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
SYNGAP1	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
ZNF835	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
MARCHF7	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
NPPA	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
SDCBP	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
PKD2	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
HCK	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000
CDC73	HSF2BP	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (324): HSF2BP (Affinity Capture-MS), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid), HSF2BP (Two-hybrid)

ESM2 similar proteins: A0A3L7I2I8, A0JMZ3, A5HK05, A7MB89, A7YWD2, O60733, O75031, O94829, O94955, P0C7A6, P42694, P49754, P97570, P97819, Q05AL1, Q1LVW0, Q29RM5, Q2KI54, Q2T9K6, Q3UFS0, Q3UJZ3, Q4V890, Q5KU39, Q5R6S3, Q5R974, Q5T9G4, Q5TYQ1, Q5VZK9, Q68FK4, Q6DFV5, Q6EDY6, Q6NYU2, Q6QI06, Q6R327, Q7T3P8, Q8C0T1, Q8CEF1, Q8IUR7, Q8NFZ0, Q91W86

Diamond homologs: O75031, Q9D4G2

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 147 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
mRNA Splicing - Major Pathway	9	6.4×	4e-03
RAC1 GTPase cycle	8	6.3×	6e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	2
Uncertain significance	49
Likely benign	9
Benign	0

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	Pathogenic
830406	NC_000021.8:g.(?44838120)(45629566_?)del	Pathogenic
1224546	NM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro)	Likely pathogenic
1224547	NM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg)	Likely pathogenic

SpliceAI

3162 predictions. Top by Δscore:

Variant	Effect	Δscore
21:43529963:C:CC	acceptor_gain	1.0000
21:43592224:CCA:C	donor_gain	1.0000
21:43613806:A:C	donor_gain	1.0000
21:43613829:CA:C	donor_gain	1.0000
21:43613850:T:TA	donor_gain	1.0000
21:43630320:A:AC	donor_gain	1.0000
21:43630320:ACT:A	donor_gain	1.0000
21:43630321:C:CC	donor_gain	1.0000
21:43630321:CT:C	donor_gain	1.0000
21:43630321:CTC:C	donor_gain	1.0000
21:43630356:A:AC	donor_gain	1.0000
21:43630357:C:CC	donor_gain	1.0000
21:43630453:TC:T	acceptor_gain	1.0000
21:43630454:CC:C	acceptor_gain	1.0000
21:43630455:C:CC	acceptor_gain	1.0000
21:43630455:C:CG	acceptor_loss	1.0000
21:43633262:CCATA:C	donor_gain	1.0000
21:43633266:A:AC	donor_gain	1.0000
21:43633267:C:CC	donor_gain	1.0000
21:43633267:CTT:C	donor_loss	1.0000
21:43633267:CTTA:C	donor_gain	1.0000
21:43633268:TTACT:T	donor_loss	1.0000
21:43633270:A:AC	donor_gain	1.0000
21:43633270:A:T	donor_loss	1.0000
21:43633270:ACT:A	donor_gain	1.0000
21:43633270:ACTC:A	donor_gain	1.0000
21:43633271:C:CG	donor_gain	1.0000
21:43633271:CT:C	donor_gain	1.0000
21:43633271:CTC:C	donor_gain	1.0000
21:43633271:CTCC:C	donor_gain	1.0000

AlphaMissense

2187 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
21:43592298:G:C	S241R	0.998
21:43592298:G:T	S241R	0.998
21:43592300:T:G	S241R	0.998
21:43613941:G:T	A194D	0.995
21:43592285:C:G	G246R	0.993
21:43656682:A:G	L31P	0.993
21:43613926:C:T	G199D	0.992
21:43633319:A:G	W132R	0.992
21:43633319:A:T	W132R	0.992
21:43592304:A:C	N239K	0.991
21:43592304:A:T	N239K	0.991
21:43630348:A:T	V183D	0.991
21:43633317:C:A	W132C	0.990
21:43633317:C:G	W132C	0.990
21:43613923:C:G	R200P	0.989
21:43613942:C:G	A194P	0.989
21:43630407:A:C	S163R	0.989
21:43630407:A:T	S163R	0.989
21:43630409:T:G	S163R	0.989
21:43633331:A:G	C128R	0.989
21:43613938:G:T	A195D	0.988
21:43592320:A:G	L234P	0.987
21:43630350:A:C	F182L	0.987
21:43630350:A:T	F182L	0.987
21:43630352:A:G	F182L	0.987
21:43656691:A:G	L28P	0.987
21:43529791:A:G	L323P	0.986
21:43529800:G:T	A320D	0.986
21:43529926:A:G	L278P	0.986
21:43613924:G:T	R200S	0.986

dbSNP variants (sampled 300 via entrez): RS1000026015 (21:43644569 C>G), RS1000067629 (21:43618688 G>A), RS1000075163 (21:43585124 T>C), RS1000107971 (21:43636864 C>T), RS1000143512 (21:43635666 T>C), RS1000146157 (21:43506712 C>T), RS1000175452 (21:43643992 T>A), RS1000186718 (21:43550653 C>A), RS1000251711 (21:43581045 G>A), RS1000261736 (21:43601819 G>C), RS1000278958 (21:43641818 C>A,T), RS1000365158 (21:43594978 G>A), RS1000374284 (21:43502105 C>A), RS1000412614 (21:43647244 T>A,C), RS1000412788 (21:43631616 C>A)

Disease associations

OMIM: gene MIM:604554 | disease phenotypes: MIM:619245, MIM:254800

GenCC curated gene-disease

Disease	Classification	Inheritance
premature ovarian failure 19	Strong	Autosomal recessive

Mondo (2): premature ovarian failure 19 (MONDO:0030985), progressive myoclonus epilepsy (MONDO:0020074)

Orphanet (2): Progressive myoclonic epilepsy type 1 (Orphanet:308), Progressive myoclonic epilepsy (Orphanet:98261)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0000858	Irregular menstruation
HP:0000869	Secondary amenorrhea
HP:0008209	Premature ovarian insufficiency
HP:0008222	Female infertility

GWAS associations

13 associations (top):

Study	Trait	p-value
GCST002527_11	Eosinophilic esophagitis	1.000000e-07
GCST004602_240	Mean corpuscular volume	3.000000e-10
GCST005024_99	Pursuit maintenance gain	4.000000e-06
GCST005194_248	Coronary artery disease	5.000000e-06
GCST007267_162	Systolic blood pressure	8.000000e-13
GCST007611_7	Chronic obstructive pulmonary disease or high blood pressure (pleiotropy)	2.000000e-11
GCST008368_15	Plasma anti-thyroid peroxidase levels	3.000000e-06
GCST010002_77	Refractive error	3.000000e-10
GCST90002381_273	Eosinophil count	4.000000e-09
GCST90002390_309	Mean corpuscular hemoglobin	6.000000e-16
GCST90002392_126	Mean corpuscular volume	2.000000e-18
GCST90002396_77	Mean reticulocyte volume	3.000000e-12
GCST90002397_299	Mean spheric corpuscular volume	1.000000e-10

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:0008433	pursuit maintenance gain measurement
EFO:0006335	systolic blood pressure
EFO:0004842	eosinophil count
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D020191	Myoclonic Epilepsies, Progressive	C10.228.140.490.375.130.650; C10.228.140.490.493.063.650

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

21 total (human), top 21 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Silicon Dioxide	decreases expression, increases expression	2
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
sodium arsenite	increases abundance, increases expression	1
perfluorooctane sulfonic acid	increases expression	1
CGP 52608	affects binding, increases reaction	1
chloropicrin	decreases expression	1
abrine	increases expression	1
excavatolide B	decreases expression	1
Sunitinib	increases expression	1
Arsenic	increases abundance, increases expression	1
Benzo(a)pyrene	increases expression	1
Cisplatin	increases expression	1
Diethylhexyl Phthalate	decreases expression	1
Estradiol	affects cotreatment, increases expression	1
Malathion	increases expression	1
Smoke	decreases expression	1
Tretinoin	decreases expression	1
Urethane	decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1
Okadaic Acid	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT06593951	Not specified	RECRUITING	Registry and Natural History Study for Progressive Myoclonus Epilepsy Type 1 (EPM1)
NCT06923241	Not specified	COMPLETED	Nutri-score Labelling in a UK Restaurant Setting: a Randomised Control Trial