BFSP2

Summary

BFSP2 (beaded filament structural protein 2, HGNC:1041) is a protein-coding gene on chromosome 3q22.1, encoding Phakinin (Q13515). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.

More than 99% of the vertebrate ocular lens is comprised of terminally differentiated lens fiber cells. Two lens-specific intermediate filament-like proteins, the protein product of this gene (phakinin), and filensin, are expressed only after fiber cell differentiation has begun. Both proteins are found in a structurally unique cytoskeletal element that is referred to as the beaded filament (BF). Mutations in this gene have been associated with juvenile-onset, progressive cataracts and Dowling-Meara epidermolysis bullosa simplex.

Source: NCBI Gene 8419 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract 12 multiple types (Definitive, GenCC) — +4 more curated relationships
• Clinical variants (ClinVar): 144 total — 4 pathogenic
• Phenotypes (HPO): 4
• MANE Select transcript: NM_003571

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1041
Approved symbol	BFSP2
Name	beaded filament structural protein 2
Location	3q22.1
Locus type	gene with protein product
Status	Approved
Aliases	CP47, CP49, LIFL-L, phakinin
Ensembl gene	ENSG00000170819
Ensembl biotype	protein_coding
OMIM	603212
Entrez	8419

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding_CDS_not_defined, 1 protein_coding, 1 retained_intron

ENST00000302334, ENST00000503047, ENST00000510039, ENST00000511140, ENST00000511434, ENST00000513441

RefSeq mRNA: 1 — MANE Select: NM_003571 NM_003571

CCDS: CCDS33859

Canonical transcript exons

ENST00000302334 — 7 exons

Exon	Start	End
ENSE00001164216	133400056	133400572
ENSE00001217069	133448489	133448645
ENSE00001217074	133447317	133447399
ENSE00002063029	133474969	133475208
ENSE00003541236	133466828	133466959
ENSE00003626577	133450303	133450464
ENSE00003643143	133472345	133472565

Expression profiles

Bgee: expression breadth ubiquitous, 111 present calls, max score 93.55.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0292 / max 51.6096, expressed in 1 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
38650	0.0292	1

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
lens of camera-type eye	UBERON:0000965	93.55	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	86.83	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	81.01	gold quality
lymph node	UBERON:0000029	73.01	gold quality
spleen	UBERON:0002106	65.54	gold quality
granulocyte	CL:0000094	59.68	gold quality
vermiform appendix	UBERON:0001154	59.22	gold quality
mucosa of transverse colon	UBERON:0004991	59.04	gold quality
bone marrow cell	CL:0002092	57.00	silver quality
caecum	UBERON:0001153	56.40	gold quality
rectum	UBERON:0001052	56.34	gold quality
tibia	UBERON:0000979	55.57	gold quality
tonsil	UBERON:0002372	53.65	gold quality
small intestine Peyer’s patch	UBERON:0003454	51.88	gold quality
islet of Langerhans	UBERON:0000006	51.78	gold quality
buccal mucosa cell	CL:0002336	51.17	gold quality
small intestine	UBERON:0002108	50.66	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	gold quality
lower esophagus mucosa	UBERON:0035834	50.22	gold quality
paraflocculus	UBERON:0005351	50.18	gold quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
duodenum	UBERON:0002114	49.48	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
metanephric glomerulus	UBERON:0004736	47.83	gold quality
renal glomerulus	UBERON:0000074	47.64	gold quality
blood	UBERON:0000178	47.51	gold quality
thymus	UBERON:0002370	47.43	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	no	3.66

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

16 targeting BFSP2, 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-6875-3P	99.82	70.26	2983
HSA-MIR-609	99.82	64.26	505
HSA-MIR-4659A-3P	99.80	72.62	4248
HSA-MIR-4659B-3P	99.80	72.62	4248
HSA-MIR-4422	99.72	72.07	2908
HSA-MIR-7154-5P	99.69	70.52	1900
HSA-MIR-4530	99.69	66.47	1509
HSA-MIR-4729	99.69	72.18	4233
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-583	98.71	67.44	1791
HSA-MIR-7113-5P	97.88	67.33	1735
HSA-MIR-7154-3P	97.65	65.02	985
HSA-MIR-5586-5P	96.29	68.02	685
HSA-MIR-4330	95.44	66.39	993
HSA-MIR-6753-5P	94.70	64.08	470
HSA-MIR-4268	94.45	64.09	819

Literature-anchored findings (GeneRIF, showing 7)

• The Y-sutural opacity in the lens might be the typical and earliest sign for cataract caused by the BFSP2 mutation. In addition, a myopia susceptibility locus in this region, which might also be associated with the mutation in BFSP2. (PMID:15570218)
• Progressive isolated sutural cataract associated with deletion mutation of BFSP2 gene in Chinese pedigree. Physiological importance of beaded filament protein. Role of BFSP2 in human cataract formation. (PMID:17200662)
• Progressive phenotype has provided more evidence for the heterogeneity of congenital cataract caused by BFSP2 mutations and for the important role BFSP2 plays in cataract formation. (PMID:17982427)
• This is the first reported case of a congenital lamellar cataract phenotype associated with the mutation of Arg339His (P.R339H) in BFSP2. (PMID:18958306)
• Data show that BFSP2 and PITX3, hitherto known to cause eye defects only in a dominant fashion, can also present recessively. (PMID:21836522)
• We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation. (PMID:24654948)
• The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. (PMID:28935373)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bfsp2	ENSDARG00000011998
mus_musculus	Bfsp2	ENSMUSG00000032556
rattus_norvegicus	Bfsp2	ENSRNOG00000010899

Paralogs (68): KRT33A (ENSG00000006059), VIM (ENSG00000026025), KRT31 (ENSG00000094796), NEFM (ENSG00000104722), KRT23 (ENSG00000108244), KRT37 (ENSG00000108417), KRT32 (ENSG00000108759), KRT18 (ENSG00000111057), LMNB1 (ENSG00000113368), KRT36 (ENSG00000126337), KRT17 (ENSG00000128422), GFAP (ENSG00000131095), KRT34 (ENSG00000131737), KRT33B (ENSG00000131738), NES (ENSG00000132688), PRPH (ENSG00000135406), KRT85 (ENSG00000135443), KRT7 (ENSG00000135480), KRT71 (ENSG00000139648), INA (ENSG00000148798), LMNTD1 (ENSG00000152936), LMNA (ENSG00000160789), KRT84 (ENSG00000161849), KRT82 (ENSG00000161850), KRT80 (ENSG00000167767), KRT1 (ENSG00000167768), KRT24 (ENSG00000167916), KRT8 (ENSG00000170421), KRT78 (ENSG00000170423), KRT86 (ENSG00000170442), KRT75 (ENSG00000170454), KRT6C (ENSG00000170465), KRT4 (ENSG00000170477), KRT74 (ENSG00000170484), KRT72 (ENSG00000170486), KRT83 (ENSG00000170523), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360), KRT13 (ENSG00000171401)

Protein

Protein identifiers

Phakinin — Q13515 (reviewed: Q13515)

Alternative names: 49 kDa cytoskeletal protein, Beaded filament structural protein 2, Lens fiber cell beaded filament protein CP 47, Lens fiber cell beaded filament protein CP 49, Lens intermediate filament-like light

All UniProt accessions (1): Q13515

UniProt curated annotations — full annotation on UniProt →

Function. Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA. Plays a role in maintenance of retinal lens optical clarity.

Subunit / interactions. Part of a complex required for lens intermediate filament formation composed of BFSP1, BFSP2 and CRYAA. Found in a complex composed of PPL (via C-terminal linker domain), BFSP1 and BFSP2 in the retinal lens. Within the complex interacts with PPL (via C-terminal linker domain) and with BFSP1. Identified in a complex that contains VIM, EZR, AHNAK, BFSP1, BFSP2, ANK2, PLEC, PRX and spectrin. Interacts with LGSN. Interacts with VIM.

Subcellular location. Cell membrane. Cytoplasm. Cytoskeleton. Cell cortex.

Tissue specificity. Lens.

Disease relevance. Cataract 12, multiple types (CTRCT12) [MIM:611597] An opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. The opacities can be nuclear, sutural, stellate cortical, lamellar, cortical, nuclear embryonic, Y-sutural, punctate cortical, congenital or with juvenile- and adult-onset. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_003562* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR002957	Keratin_I	Family
IPR039008	IF_rod_dom	Domain

Pfam: PF00038

UniProt features (18 total): modified residue 5, sequence variant 3, region of interest 3, coiled-coil region 3, initiator methionine 1, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q13515-F1	78.15	0.59

Functional residue map

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

Post-translational modifications (5): 2, 26, 32, 35, 90

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 91 (showing top): GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, CAGCTG_AP4_Q5, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MARTIN_VIRAL_GPCR_SIGNALING_DN, MODULE_99, GOBP_SENSORY_PERCEPTION, GOBP_SENSORY_ORGAN_DEVELOPMENT, chr3q22, IVANOVA_HEMATOPOIESIS_EARLY_PROGENITOR

GO Biological Process (6): visual perception (GO:0007601), intermediate filament organization (GO:0045109), cell maturation (GO:0048469), lens fiber cell development (GO:0070307), cytoskeleton organization (GO:0007010), intermediate filament cytoskeleton organization (GO:0045104)

GO Molecular Function (4): structural constituent of cytoskeleton (GO:0005200), structural constituent of eye lens (GO:0005212), structural molecule activity (GO:0005198), protein binding (GO:0005515)

GO Cellular Component (6): cytoskeleton (GO:0005856), intermediate filament (GO:0005882), plasma membrane (GO:0005886), cell cortex (GO:0005938), cytoplasm (GO:0005737), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cytoskeleton organization	2
structural molecule activity	2
cell periphery	2
cellular anatomical structure	2
sensory perception of light stimulus	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
cell development	1
cellular developmental process	1
anatomical structure maturation	1
epithelial cell development	1
lens fiber cell differentiation	1
organelle organization	1
intermediate filament-based process	1
cytoskeleton	1
molecular_function	1
binding	1
intracellular membraneless organelle	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cytoplasm	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

908 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BFSP2	BFSP1	Q12934	999
BFSP2	MT-CYB	P00156	976
BFSP2	GJA8	P48165	946
BFSP2	CRYBB1	P53674	942
BFSP2	GJA3	Q9Y6H8	939
BFSP2	CRYGD	P07320	938
BFSP2	CRYGS	P22914	925
BFSP2	CRYBB2	P43320	920
BFSP2	PITX3	O75364	878
BFSP2	HSF4	Q9ULV5	846
BFSP2	CRYGC	P07315	800
BFSP2	CRYBA1	P05813	777
BFSP2	MIP	P30301	775
BFSP2	CRYBB3	P26998	760
BFSP2	CRYAA	P02489	742

IntAct

203 interactions, top by confidence:

A	B	Type	Score
BFSP2	ATF4	psi-mi:“MI:0915”(physical association)	0.890
ATF4	BFSP2	psi-mi:“MI:0915”(physical association)	0.890
SYCE1	BFSP2	psi-mi:“MI:0915”(physical association)	0.810
BFSP2	SYCE1	psi-mi:“MI:0915”(physical association)	0.810
BFSP2	SUFU	psi-mi:“MI:0915”(physical association)	0.800
BFSP2	CDR2L	psi-mi:“MI:0915”(physical association)	0.800
BFSP2	CALCOCO1	psi-mi:“MI:0915”(physical association)	0.740
BFSP2	CEP44	psi-mi:“MI:0915”(physical association)	0.740
BFSP2	MBIP	psi-mi:“MI:0915”(physical association)	0.720
MBIP	BFSP2	psi-mi:“MI:0915”(physical association)	0.720
BFSP2	USHBP1	psi-mi:“MI:0915”(physical association)	0.720

BioGRID (92): BFSP2 (Two-hybrid), MBIP (Two-hybrid), SYCE1 (Two-hybrid), ATF4 (Two-hybrid), MBIP (Two-hybrid), SYCE1 (Two-hybrid), USHBP1 (Two-hybrid), BFSP1 (Affinity Capture-MS), TRIP11 (Affinity Capture-MS), NEK2 (Affinity Capture-MS), CDR2L (Affinity Capture-MS), CENPE (Affinity Capture-MS), SUFU (Affinity Capture-MS), CALCOCO1 (Affinity Capture-MS), MAX (Affinity Capture-MS)

ESM2 similar proteins: A0JND2, A3KN27, A6BLY7, A6H712, A6QNX5, A6QQJ3, A7YWK3, D3ZER2, E1AB55, O76014, O76015, P08552, P15331, P21807, P35617, P41219, P46660, P48670, Q0VBK2, Q13515, Q148H5, Q148H6, Q148H8, Q14CN4, Q28177, Q3SY84, Q3TRJ4, Q6A162, Q6IFW3, Q6IFW8, Q6IFX0, Q6IFX4, Q6IFZ9, Q6IG04, Q6IME9, Q6IMF1, Q6KB66, Q6NVD9, Q6NXH9, Q7RTS7

Diamond homologs: A1KQY9, A1L317, A1L595, A5A6M0, A5A6M5, A5A6N2, A5A6P3, A6BLY7, A6H712, B0LKP1, B1AQ75, D3ZER2, O57607, O57611, O76009, O76013, O76014, O76015, O77727, O93256, P02533, P02534, P02535, P02537, P05781, P05782, P05783, P05784, P06394, P08727, P08728, P08730, P08777, P08778, P08779, P08802, P13645, P13646, P19001, P25030

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 56 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
Formation of the cornified envelope	5	14.6×	4e-03

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	5	34.4×	5e-05
intermediate filament organization	6	28.9×	2e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	4
Likely pathogenic	0
Uncertain significance	82
Likely benign	19
Benign	28

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	Pathogenic
1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	Pathogenic
646545	NM_003571.4(BFSP2):c.166del (p.Val56fs)	Pathogenic
6584	NM_003571.4(BFSP2):c.694GAA[1] (p.Glu233del)	Pathogenic

SpliceAI

1010 predictions. Top by Δscore:

Variant	Effect	Δscore
3:133400569:GCAG:G	donor_gain	1.0000
3:133400573:G:GG	donor_gain	1.0000
3:133400573:GT:G	donor_loss	1.0000
3:133448486:CAGA:C	acceptor_loss	1.0000
3:133448487:A:AG	acceptor_gain	1.0000
3:133448487:AGATA:A	acceptor_loss	1.0000
3:133448488:G:GA	acceptor_gain	1.0000
3:133448488:GA:G	acceptor_gain	1.0000
3:133448488:GAT:G	acceptor_gain	1.0000
3:133448488:GATA:G	acceptor_gain	1.0000
3:133448488:GATAT:G	acceptor_gain	1.0000
3:133448642:AGAGG:A	donor_loss	1.0000
3:133448643:GAG:G	donor_gain	1.0000
3:133448647:T:A	donor_loss	1.0000
3:133450299:TCA:T	acceptor_loss	1.0000
3:133450301:A:AG	acceptor_gain	1.0000
3:133450301:A:T	acceptor_loss	1.0000
3:133450301:AG:A	acceptor_gain	1.0000
3:133450301:AGGAT:A	acceptor_gain	1.0000
3:133450302:G:GC	acceptor_gain	1.0000
3:133450302:GG:G	acceptor_gain	1.0000
3:133450302:GGA:G	acceptor_gain	1.0000
3:133450302:GGAT:G	acceptor_gain	1.0000
3:133450302:GGATG:G	acceptor_gain	1.0000
3:133450460:C:G	donor_gain	1.0000
3:133450460:CTAAG:C	donor_loss	1.0000
3:133450461:TAAG:T	donor_loss	1.0000
3:133450462:AAGG:A	donor_loss	1.0000
3:133450463:AGG:A	donor_loss	1.0000
3:133450464:GGTG:G	donor_loss	1.0000

AlphaMissense

2690 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
3:133448562:G:C	A216P	0.982
3:133472375:G:C	A352P	0.979
3:133447341:G:C	A172P	0.978
3:133466933:G:C	A333P	0.975
3:133400324:A:C	S81R	0.973
3:133400326:C:A	S81R	0.973
3:133400326:C:G	S81R	0.973
3:133466945:T:C	S337P	0.971
3:133400322:T:C	I80T	0.970
3:133472355:T:C	L345P	0.961
3:133466958:T:C	L341P	0.960
3:133448512:G:C	R199P	0.959
3:133400327:A:C	S82R	0.956
3:133400329:T:A	S82R	0.956
3:133400329:T:G	S82R	0.956
3:133466928:T:C	L331P	0.956
3:133466954:G:C	A340P	0.956
3:133400333:T:C	F84L	0.955
3:133400335:C:A	F84L	0.955
3:133400335:C:G	F84L	0.955
3:133448520:G:C	A202P	0.952
3:133472400:T:C	L360P	0.952
3:133448584:T:C	L223P	0.949
3:133448542:T:C	L209P	0.943
3:133447326:G:C	A167P	0.942
3:133447348:T:C	L174P	0.941
3:133472349:G:C	R343P	0.941
3:133450408:T:A	W279R	0.936
3:133450408:T:C	W279R	0.936
3:133448605:T:C	L230P	0.931

dbSNP variants (sampled 300 via entrez): RS1000010032 (3:133437726 A>C,G), RS1000013666 (3:133444811 T>C), RS1000016185 (3:133424974 G>T), RS1000032098 (3:133408118 G>T), RS1000032623 (3:133435767 C>T), RS1000061725 (3:133468412 G>T), RS1000083901 (3:133408261 T>C), RS1000185762 (3:133475237 G>T), RS1000186675 (3:133432832 G>A), RS1000269687 (3:133401519 C>T), RS1000281864 (3:133471178 G>A), RS1000295738 (3:133451755 G>A), RS1000354588 (3:133440078 T>C), RS1000381374 (3:133425441 T>TC), RS1000574861 (3:133458631 G>C)

Disease associations

OMIM: gene MIM:603212 | disease phenotypes: MIM:611597, MIM:116200

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract 12 multiple types	Definitive	Autosomal dominant
early-onset non-syndromic cataract	Moderate	Autosomal recessive
early-onset lamellar cataract	Supportive	Autosomal dominant
pulverulent cataract	Supportive	Autosomal dominant
early-onset sutural cataract	Supportive	Autosomal dominant

Mondo (9): cataract 12 multiple types (MONDO:0012701), intellectual disability (MONDO:0001071), strabismus (MONDO:0003432), pathologic nystagmus (MONDO:0004843), cataract (MONDO:0005129), early-onset non-syndromic cataract (MONDO:0011060), early-onset lamellar cataract (MONDO:0018611), pulverulent cataract (MONDO:0011430), early-onset sutural cataract (MONDO:0020372)

Orphanet (2): Early onset non-syndromic cataract (Orphanet:91492), NON RARE IN EUROPE: Unexplained intellectual disability (Orphanet:319658)

HPO phenotypes

4 total (5 of 4 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000519	Developmental cataract
HP:0000545	Myopia
HP:0007834	Progressive cataract
HP:0000518	Cataract

GWAS associations

0 associations (top):

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D002386	Cataract	C11.510.245
D008607	Intellectual Disability	C10.597.606.360; C23.888.592.604.646; F01.700.687; F03.625.539
D009759	Nystagmus, Pathologic	C10.292.562.675; C11.590.400
D013285	Strabismus	C10.292.562.887; C11.590.810
C566909	Cataract, Autosomal Dominant, Multiple Types 1 (supp.)
C565133	Cataract, Coppock-Like (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

7 total (human), top 7 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol A	decreases methylation	1
Benzo(a)pyrene	increases methylation	1
Diethylstilbestrol	increases expression	1
Estradiol	affects cotreatment, decreases expression, increases expression	1
Tetrachlorodibenzodioxin	increases expression, affects cotreatment, decreases expression	1
Valproic Acid	decreases methylation	1
Aflatoxin B1	decreases methylation	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05657860	PHASE4	COMPLETED	Guanfacine Extended Release for the Reduction of Aggression and Self-injurious Behavior Associated With Prader-Willi Syndrome
NCT05744479	PHASE4	RECRUITING	Metformin for Antipsychotic-induced Weight Gain in Adults With Intellectual Disability
NCT06107829	PHASE4	WITHDRAWN	Valbenazine Treatment of Tardive Dyskinesia in Adults With Intellectual/Developmental Disabilities
NCT06997198	PHASE4	NOT_YET_RECRUITING	Deutetrabenazine Treatment for Tardive Dyskinesia in Intellectual/Developmental Disabilities
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NCT02379546	PHASE4	COMPLETED	The Effect of Anaesthesia Depth on Oculo-cardiac Reflex
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NCT04549844	PHASE4	UNKNOWN	Peribulbar Block for Prevention of Oculocardiac Reflex
NCT06035757	PHASE4	RECRUITING	The Occurrence of Emergence Agitation in Pediatric Strabismus Surgery
NCT06560268	PHASE4	NOT_YET_RECRUITING	Low Flow Anesthesia in Children Undergoing Strabismus Surgery
NCT00273221	PHASE4	UNKNOWN	Combined Phacotube vs Phacotrabeculectomy:A Randomized Controlled Trial
NCT02270736	PHASE3	COMPLETED	Clinical Study to Investigate the Efficacy and Safety of NT 201 Compared to Placebo in the Treatment of Chronic Troublesome Drooling Associated With Neurological Disorders and/or Intellectual Disability
NCT00000128	PHASE3	UNKNOWN	A Trial of Bifocals in Myopic Children With Esophoria
NCT00001864	PHASE3	COMPLETED	Amblyopia (Lazy Eye) Treatment Study
NCT00038753	PHASE3	UNKNOWN	Vision In Preschoolers Study (VIP Study)
NCT01584843	PHASE3	COMPLETED	Efficacy and Safety of GSK1358820 (Botulinum Toxin Type A) in Patients With Strabismus
NCT04060771	PHASE3	UNKNOWN	Post-Operative Nausea and Vomiting in Children Submitted to Strabismus Surgery
NCT06863675	PHASE3	NOT_YET_RECRUITING	Highly Aspherical Lenslet (HAL) and Binocular Vision (BV) Disorders [HALT X(T) Study]
NCT02304302	PHASE2	COMPLETED	Down Syndrome Memantine Follow-up Study
NCT03862950	PHASE2	COMPLETED	A Trial of Metformin in Individuals With Fragile X Syndrome (Met)
NCT04529226	PHASE2	UNKNOWN	Study to Compare Clozapine vs Treatment as Usual in People With Intellectual Disability & Treatment-resistant Psychosis
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NCT00478907	PHASE2	COMPLETED	Prevention of Complications of Eye Surgery
NCT06689943	PHASE2	NOT_YET_RECRUITING	Pain After Strabismus Surgery
NCT05273320	PHASE1	COMPLETED	Clinical Trial of Nabilone for Aggression in Adults With Intellectual and Developmental Disabilities
NCT05301361	PHASE1	ENROLLING_BY_INVITATION	Sensitivity of the NIH Toolbox to Stimulant Treatment in Intellectual Disabilities
NCT06016764	PHASE1	COMPLETED	Use of MRI and cTBS for Catatonia in Autism
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NCT07531940	PHASE1	NOT_YET_RECRUITING	Escalating Doses of Memantine in Down Syndrome (MEDS-123)
NCT00917982	PHASE1	UNKNOWN	The Effect of Vision Therapy/Orthoptic on Motor & Sensory Status of the 3 to 7 Years Old Strabismic Patients
NCT02246556	PHASE1	TERMINATED	Dichoptic Virtual Reality Therapy for Amblyopia in Adults
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NCT06860672	EARLY_PHASE1	RECRUITING	Clinical Trial of the Dual Vector Base Editor for the Treatment of the CHD3-R1025W Mutation
NCT00597948	Not specified	COMPLETED	Healthy Lifestyles for People With Intellectual Disabilities
NCT01087320	Not specified	RECRUITING	Genome Medical Sequencing for Gene Discovery
NCT01652963	Not specified	UNKNOWN	Picture-based Computerised Assessment and Training of Cognitive Behaviour Therapy Skills
NCT01695395	Not specified	COMPLETED	Mental Health Care Provision for Adults With Intellectual Disability and a Mental Disorder
NCT01867554	Not specified	COMPLETED	Research and Characterization of New Genes Involved in Intellectual Disability