BFSP1

Summary

BFSP1 (beaded filament structural protein 1, HGNC:1040) is a protein-coding gene on chromosome 20p12.1, encoding Filensin (Q12934). Required for the correct formation of lens intermediate filaments as part of a complex composed of BFSP1, BFSP2 and CRYAA.

This gene encodes a lens-specific intermediate filament-like protein named filensin. The encoded protein is expressed in lens fiber cells after differentiation has begun. This protein functions as a component of the beaded filament which is a cytoskeletal structure found in lens fiber cells. Mutations in this gene are the cause of autosomal recessive cortical juvenile-onset cataract. Alternate splicing results in multiple transcript variants.

Source: NCBI Gene 631 — RefSeq curated summary.

At a glance

• Gene–disease (curated): cataract 33 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 274 total — 6 pathogenic, 2 likely-pathogenic
• Phenotypes (HPO): 7
• MANE Select transcript: NM_001195

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1040
Approved symbol	BFSP1
Name	beaded filament structural protein 1
Location	20p12.1
Locus type	gene with protein product
Status	Approved
Aliases	CP94, CP115, LIFL-H, filensin
Ensembl gene	ENSG00000125864
Ensembl biotype	protein_coding
OMIM	603307
Entrez	631

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 4 protein_coding, 2 protein_coding_CDS_not_defined

ENST00000377868, ENST00000377873, ENST00000473415, ENST00000492424, ENST00000536626, ENST00000929672

RefSeq mRNA: 6 — MANE Select: NM_001195 NM_001161705, NM_001195, NM_001278606, NM_001278607, NM_001278608, NM_001424338

CCDS: CCDS13126, CCDS54448, CCDS63229

Canonical transcript exons

ENST00000377873 — 8 exons

Exon	Start	End
ENSE00001475387	17530953	17531379
ENSE00001475394	17493905	17495029
ENSE00003523194	17524848	17524908
ENSE00003801212	17514721	17514816
ENSE00003806710	17508889	17508996
ENSE00003808779	17496938	17497023
ENSE00003809372	17498820	17499040
ENSE00003809408	17511976	17512068

Expression profiles

Bgee: expression breadth ubiquitous, 176 present calls, max score 90.41.

FANTOM5 (CAGE): breadth broad, TPM avg 1.8164 / max 182.0317, expressed in 848 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
186505	1.2658	632
186502	0.5506	254

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	90.41	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	86.57	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	85.31	gold quality
granulocyte	CL:0000094	75.57	gold quality
endometrium epithelium	UBERON:0004811	74.26	gold quality
tendon	UBERON:0000043	73.81	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	72.84	gold quality
stromal cell of endometrium	CL:0002255	72.03	gold quality
prefrontal cortex	UBERON:0000451	71.21	gold quality
popliteal artery	UBERON:0002250	70.87	gold quality
tibial artery	UBERON:0007610	70.85	gold quality
spinal cord	UBERON:0002240	70.75	gold quality
lower esophagus muscularis layer	UBERON:0035833	70.08	gold quality
lower esophagus	UBERON:0013473	70.03	gold quality
aorta	UBERON:0000947	69.97	gold quality
descending thoracic aorta	UBERON:0002345	69.71	gold quality
thoracic aorta	UBERON:0001515	69.00	gold quality
ascending aorta	UBERON:0001496	68.97	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	68.80	gold quality
right lobe of thyroid gland	UBERON:0001119	68.75	gold quality
islet of Langerhans	UBERON:0000006	68.60	gold quality
tongue squamous epithelium	UBERON:0006919	68.54	gold quality
calcaneal tendon	UBERON:0003701	68.52	gold quality
nucleus accumbens	UBERON:0001882	68.06	gold quality
right frontal lobe	UBERON:0002810	67.56	gold quality
left lobe of thyroid gland	UBERON:0001120	67.37	gold quality
body of uterus	UBERON:0009853	67.36	gold quality
dorsolateral prefrontal cortex	UBERON:0009834	67.26	gold quality
putamen	UBERON:0001874	67.24	gold quality
cartilage tissue	UBERON:0002418	67.18	silver quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	4.27
E-GEOD-124858	no	3.35

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

7 targeting BFSP1, 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-6126	99.62	68.09	996
HSA-MIR-6832-3P	99.52	70.44	1726
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-520F-5P	99.34	70.40	1632
HSA-MIR-5699-5P	97.36	67.03	1014
HSA-MIR-874-5P	96.93	63.92	1014
HSA-MIR-1306-3P	87.45	66.21	44

Literature-anchored findings (GeneRIF, showing 5)

• This is the first report of a mutation in the BFSP1 gene associated with human inherited cataracts. (PMID:17225135)
• The crystallin beta cluster on chromosome 22, GJA3, and BFSP1 play a major role in maintaining lens transparency. (PMID:24319337)
• A novel mutation (c.1042G>A) at exon 7 of BFSP1, which creates a substitution of an aspartate to an asparagine (p.D348N) was identified to be associated with autosomal dominant congenital cataract in a Chinese family. (PMID:24379646)
• The results suggest that the N-terminal domain of CRYAA is required during in vitro complex formation with filensin and phakinin. (PMID:28935373)
• Independent Membrane Binding Properties of the Caspase Generated Fragments of the Beaded Filament Structural Protein 1 (BFSP1) Involves an Amphipathic Helix. (PMID:37371051)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	bfsp1	ENSDARG00000074919
mus_musculus	Bfsp1	ENSMUSG00000027420
rattus_norvegicus	Bfsp1	ENSRNOG00000005707

Protein

Protein identifiers

Filensin — Q12934 (reviewed: Q12934)

Alternative names: Beaded filament structural protein 1, Lens fiber cell beaded-filament structural protein CP 115, Lens intermediate filament-like heavy

All UniProt accessions (1): Q12934

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. Involved in altering the calcium regulation of MIP water permeability.

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

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

Tissue specificity. Expressed in the cortex and nucleus of the retina lens (at protein level).

Post-translational modifications. Proteolytically cleaved during lens cell fiber differentiation with increased fragmentation as fiber cell age increases. Myristoylated at Gly-434 following proteolytic cleavage at Asp-433. Acetylated at Ala-42 following proteolytic cleavage at Leu-41.

Disease relevance. Cataract 33, multiple types (CTRCT33) [MIM:611391] 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. CTRCT33 has juvenile-onset and the opacities are restricted to the cortex of the lens, not involving the nucleus. The disease is caused by variants affecting the gene represented in this entry.

Similarity. Belongs to the intermediate filament family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q12934-1	1	yes
Q12934-2	2
Q12934-3	3

RefSeq proteins (6): NP_001155177, NP_001186, NP_001265535, NP_001265536, NP_001265537, NP_001411267 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR039008	IF_rod_dom	Domain
IPR042358	BFSP1	Family

Pfam: PF00038

UniProt features (37 total): region of interest 9, modified residue 6, sequence conflict 5, chain 3, site 3, splice variant 3, sequence variant 3, mutagenesis site 2, compositionally biased region 1, lipid moiety-binding region 1, domain 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q12934-F1	64.66	0.36

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 (3): 41–42 (cleavage); 433–434 (cleavage (by casp2, casp3, and casp7)); 457 (interaction with mip)

Post-translational modifications (7): 5, 42, 341, 420, 513, 665, 434

Mutagenesis-validated functional residues (2):

Position	Phenotype
433	abolishes cleavage by casp2.
434	no effect on cleavage.

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 103 (showing top): GOBP_LENS_FIBER_CELL_DIFFERENTIATION, GOBP_EPITHELIUM_DEVELOPMENT, JI_RESPONSE_TO_FSH_UP, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPITHELIAL_CELL_DEVELOPMENT, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_DN, NFKB_Q6, GOBP_ANATOMICAL_STRUCTURE_MATURATION, GOBP_CELL_MATURATION, GOBP_SENSORY_ORGAN_DEVELOPMENT, GOBP_LENS_FIBER_CELL_DEVELOPMENT, GOBP_LENS_DEVELOPMENT_IN_CAMERA_TYPE_EYE, NUYTTEN_EZH2_TARGETS_DN, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON

GO Biological Process (4): intermediate filament organization (GO:0045109), cell maturation (GO:0048469), lens fiber cell development (GO:0070307), cytoskeleton organization (GO:0007010)

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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
structural molecule activity	2
cellular anatomical structure	2
cell periphery	2
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
cytoskeleton	1
cytoskeleton organization	1
molecular_function	1
binding	1
intracellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
membrane	1
cytoplasm	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

460 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BFSP1	BFSP2	Q13515	999
BFSP1	MIP	P30301	936
BFSP1	CRYBB1	P53674	857
BFSP1	GJA8	P48165	812
BFSP1	GJA3	Q9Y6H8	806
BFSP1	CRYGS	P22914	800
BFSP1	CRYBB3	P26998	780
BFSP1	CRYBA1	P05813	752
BFSP1	CRYAA	P02489	749
BFSP1	CRYBA4	P53673	748
BFSP1	CRYBB2	P43320	742
BFSP1	CRYGD	P07320	741
BFSP1	LIM2	P55344	728
BFSP1	CRYBA2	P53672	716
BFSP1	HSF4	Q9ULV5	700

IntAct

28 interactions, top by confidence:

A	B	Type	Score
KRT31	HGS	psi-mi:“MI:0914”(association)	0.780
HIRIP3	CSNK2B	psi-mi:“MI:0914”(association)	0.730
MIS18A	DCTN6	psi-mi:“MI:0914”(association)	0.640
BFSP1	NUP62	psi-mi:“MI:0915”(physical association)	0.560
NUP62	BFSP1	psi-mi:“MI:0915”(physical association)	0.560
BMERB1	DCTN6	psi-mi:“MI:0914”(association)	0.530
KXD1	HIP1	psi-mi:“MI:0914”(association)	0.530
BFSP2	MAX	psi-mi:“MI:0914”(association)	0.530
BFSP1	CCDC185	psi-mi:“MI:0915”(physical association)	0.400
DCUN1D1	RGSL1	psi-mi:“MI:0914”(association)	0.350
NUP54	LPXN	psi-mi:“MI:0914”(association)	0.350
BFSP2	NEK2	psi-mi:“MI:0914”(association)	0.350
KRT27	CCDC88B	psi-mi:“MI:0914”(association)	0.350
SYCE1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
BFSP1	RABGAP1L	psi-mi:“MI:0914”(association)	0.350
NCLN	BFSP1	psi-mi:“MI:0914”(association)	0.350
BMERB1	SPAG9	psi-mi:“MI:0914”(association)	0.350
BFSP2	ZZEF1	psi-mi:“MI:0914”(association)	0.350
DISC1	BFSP1	psi-mi:“MI:0915”(physical association)	0.000
DSCR9	BFSP1	psi-mi:“MI:0915”(physical association)	0.000
ITSN1	BFSP1	psi-mi:“MI:0915”(physical association)	0.000
DSCAM	BFSP1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (59): NUP62 (Two-hybrid), BFSP1 (Synthetic Lethality), BFSP1 (Affinity Capture-MS), BFSP1 (Affinity Capture-MS), BFSP1 (Affinity Capture-MS), BFSP1 (Affinity Capture-MS), BFSP1 (Protein-RNA), BFSP1 (Two-hybrid), BFSP1 (Two-hybrid), USHBP1 (Two-hybrid), EMILIN1 (Two-hybrid), KIFC3 (Two-hybrid), SNAPIN (Two-hybrid), BFSP2 (Two-hybrid), KRT27 (Two-hybrid)

ESM2 similar proteins: A2AHC3, A2AMT1, A6NCC3, A6NN73, D3Z8E6, D6RF30, E7F5E1, H3BPF8, H3BQL2, H3BSY2, O15061, O35668, P0DX52, P0DX53, P53814, P54256, P54257, P62025, P97434, Q02435, Q06002, Q06637, Q0D2H9, Q0VF96, Q12934, Q3UHU5, Q3V0F0, Q5DU05, Q5T5Y3, Q5TF21, Q60664, Q62627, Q63312, Q6AW69, Q6NZL0, Q6PHN1, Q6WCQ1, Q70IV5, Q80VC9, Q80Y56

Diamond homologs: A2AMT1, Q02435, Q06002, Q06637, Q12934, A3KN27, A5A6M6, P04264, Q6IMF3

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	6
Likely pathogenic	2
Uncertain significance	139
Likely benign	64
Benign	47

Top pathogenic / likely-pathogenic (8)

Variant ID	HGVS	Classification
2111421	NM_001195.5(BFSP1):c.776_777del (p.Cys259fs)	Pathogenic
3068498	NC_000020.10:g.16400000_24400000del	Pathogenic
425558	NM_001195.5(BFSP1):c.1042G>A (p.Asp348Asn)	Pathogenic
425559	NM_001195.5(BFSP1):c.1042+3A>G	Pathogenic
6497	NM_001195.5(BFSP1):c.736-1384_957-66del	Pathogenic
838855	NM_001195.5(BFSP1):c.898C>T (p.Gln300Ter)	Pathogenic
1065587	NM_001195.5(BFSP1):c.1124del (p.Glu375fs)	Likely pathogenic
1066273	NM_001195.5(BFSP1):c.215T>C (p.Leu72Pro)	Likely pathogenic

SpliceAI

1373 predictions. Top by Δscore:

Variant	Effect	Δscore
20:17498815:CTCA:C	donor_loss	1.0000
20:17498816:TCAC:T	donor_loss	1.0000
20:17498817:CACCT:C	donor_loss	1.0000
20:17498819:C:A	donor_loss	1.0000
20:17499041:C:CC	acceptor_gain	1.0000
20:17508883:GCGTA:G	donor_loss	1.0000
20:17508884:CGTA:C	donor_loss	1.0000
20:17508885:GTA:G	donor_loss	1.0000
20:17508886:TA:T	donor_loss	1.0000
20:17508887:ACC:A	donor_loss	1.0000
20:17508992:TTCTC:T	acceptor_gain	1.0000
20:17508994:CTC:C	acceptor_gain	1.0000
20:17508997:C:CC	acceptor_gain	1.0000
20:17508997:C:CG	acceptor_loss	1.0000
20:17511970:TCTTA:T	donor_loss	1.0000
20:17511971:CTTA:C	donor_loss	1.0000
20:17511972:TTAC:T	donor_loss	1.0000
20:17511973:TACC:T	donor_loss	1.0000
20:17511974:A:T	donor_loss	1.0000
20:17511974:ACCTC:A	donor_gain	1.0000
20:17511975:CCTCC:C	donor_gain	1.0000
20:17511978:C:A	donor_gain	1.0000
20:17512064:AGATT:A	acceptor_gain	1.0000
20:17512065:GATT:G	acceptor_gain	1.0000
20:17512066:ATT:A	acceptor_gain	1.0000
20:17512066:ATTC:A	acceptor_loss	1.0000
20:17512067:TT:T	acceptor_gain	1.0000
20:17512069:C:CC	acceptor_gain	1.0000
20:17512072:T:TC	acceptor_gain	1.0000
20:17530947:GCTTA:G	donor_loss	1.0000

AlphaMissense

4320 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
20:17514813:C:G	A148P	0.995
20:17514788:A:G	L156P	0.991
20:17514804:C:G	A151P	0.991
20:17524855:A:G	L144P	0.991
20:17514771:C:G	A162P	0.988
20:17498859:A:G	L306P	0.987
20:17514782:A:G	L158P	0.987
20:17498853:C:G	R308P	0.986
20:17514761:A:G	L165P	0.985
20:17498871:A:G	L302P	0.984
20:17512034:A:G	L190P	0.980
20:17512064:A:G	L180P	0.980
20:17498844:C:G	R311P	0.979
20:17498892:A:G	L295P	0.978
20:17524876:A:G	L137P	0.977
20:17498952:C:G	R275P	0.976
20:17530959:C:G	R124P	0.976
20:17514741:C:G	A172P	0.975
20:17514776:A:G	L160P	0.975
20:17499010:C:G	A256P	0.974
20:17499022:C:G	A252P	0.974
20:17498884:C:G	A298P	0.973
20:17514797:A:G	L153P	0.972
20:17530961:G:C	F123L	0.972
20:17530961:G:T	F123L	0.972
20:17530963:A:G	F123L	0.972
20:17530984:C:G	A116P	0.971
20:17498955:A:G	L274P	0.969
20:17508899:A:G	L242P	0.969
20:17524907:A:C	Y127D	0.969

dbSNP variants (sampled 300 via entrez): RS1000035629 (20:17517995 T>C), RS1000084078 (20:17531727 C>T), RS1000165071 (20:17504566 G>A), RS1000178755 (20:17497019 T>C), RS1000199154 (20:17555563 G>A,T), RS1000226460 (20:17545004 G>A), RS1000278700 (20:17544695 C>G,T), RS1000408273 (20:17502564 T>C,G), RS1000434425 (20:17551308 G>A,C), RS1000459947 (20:17544834 G>A), RS1000499640 (20:17507749 C>T), RS1000521507 (20:17539077 A>C), RS1000589499 (20:17557610 T>C,G), RS1000636498 (20:17519527 A>G), RS1000651070 (20:17513478 G>A,T)

Disease associations

OMIM: gene MIM:603307 | disease phenotypes: MIM:611391, MIM:256450

GenCC curated gene-disease

Disease	Classification	Inheritance
cataract 33	Strong	Autosomal dominant
early-onset nuclear cataract	Supportive	Autosomal dominant

Mondo (4): cataract 33 (MONDO:0012665), hyperinsulinemic hypoglycemia, familial, 1 (MONDO:0009734), coloboma (MONDO:0001476), early-onset nuclear cataract (MONDO:0020376)

Orphanet (6): Early onset non-syndromic cataract (Orphanet:91492), Autosomal dominant hyperinsulinism due to SUR1 deficiency (Orphanet:276575), Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency (Orphanet:276598), OBSOLETE: Ocular coloboma (Orphanet:194), OBSOLETE: Autosomal recessive childhood-onset cortical cataract (Orphanet:217046), OBSOLETE: Infantile non-syndromic cataract (Orphanet:217052)

HPO phenotypes

7 total (7 of 7 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0003621	Juvenile onset
HP:0007971	Lamellar cataract
HP:0011463	Childhood onset
HP:0100018	Nuclear cataract
HP:0100019	Cortical cataract

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST007644_3	Estimated glomerular filtration rate after 1 year in renal transplantation (donor effect)	2.000000e-06
GCST008161_116	Waist circumference adjusted for body mass index	8.000000e-06
GCST012147_11	Declining hemoglobin trajectory in blood donors	6.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005199	renal transplant outcome measurement
EFO:0007892	donor genotype effect measurement
EFO:0007789	BMI-adjusted waist circumference
EFO:0600027	hemoglobin change measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D003103	Coloboma	C11.250.110; C11.270.147; C16.131.384.282
C563333	Cataract, Age-Related Nuclear (supp.)
C566955	Cataract, Cortical, Juvenile-Onset (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

29 total (human), top 29 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
sodium arsenite	increases expression	2
Benzo(a)pyrene	affects methylation	2
Valproic Acid	affects expression, decreases methylation	2
aristolochic acid I	increases expression	1
afuresertib	increases expression	1
triphenyl phosphate	affects expression	1
ethyl-p-hydroxybenzoate	increases expression	1
benzo(e)pyrene	increases methylation	1
S-(1,2-dichlorovinyl)cysteine	affects response to substance, increases expression	1
dinophysistoxin 1	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
belinostat	decreases expression	1
ICG 001	decreases expression	1
(+)-JQ1 compound	increases expression	1
2,3,5-trichloro-6-phenyl-(1,4)benzoquinone	increases expression	1
Sunitinib	decreases expression	1
Zoledronic Acid	decreases expression	1
Dichlorodiphenyl Dichloroethylene	decreases expression	1
Hydrogen Peroxide	affects expression	1
Lipopolysaccharides	affects response to substance, increases expression	1
Methapyrilene	increases methylation	1
Testosterone	decreases expression	1
Tetrachlorodibenzodioxin	increases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Cadmium Chloride	increases expression	1
Okadaic Acid	decreases expression	1
Copper Sulfate	increases expression	1

Cellosaurus cell lines

1 cell lines: 1 induced pluripotent stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_B5FX	SYSUSCi001-A	Induced pluripotent stem cell	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00368004	Not specified	TERMINATED	Family Studies of Uveal Coloboma
NCT01778543	Not specified	RECRUITING	Pathogenesis and Genetics of Microphthalmia, Anophthalmia and Uveal Coloboma (MAC)
NCT04833361	Not specified	COMPLETED	Potential Environmental Causes of Uveal Coloboma
NCT06293560	Not specified	RECRUITING	Microphthalmia, Anophthalmia, and Coloboma Genetic Epidemiology in Children