CRYL1

Summary

CRYL1 (crystallin lambda 1, HGNC:18246) is a protein-coding gene on chromosome 13q12.11, encoding Lambda-crystallin homolog (Q9Y2S2). Catalyzes the conversion of L-gulonate to 3-dehydro-L-gulonate.

The uronate cycle functions as an alternative glucose metabolic pathway, accounting for about 5% of daily glucose catabolism. The product of this gene catalyzes the dehydrogenation of L-gulonate into dehydro-L-gulonate in the uronate cycle. The enzyme requires NAD(H) as a coenzyme, and is inhibited by inorganic phosphate. A similar gene in the rabbit is thought to serve a structural role in the lens of the eye.

Source: NCBI Gene 51084 — RefSeq curated summary.

At a glance

• GWAS associations: 2
• Clinical variants (ClinVar): 198 total — 18 pathogenic, 2 likely-pathogenic
• MANE Select transcript: NM_015974

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18246
Approved symbol	CRYL1
Name	crystallin lambda 1
Location	13q12.11
Locus type	gene with protein product
Status	Approved
Aliases	GDH, lambda-CRY, MGC149525, MGC149526
Ensembl gene	ENSG00000165475
Ensembl biotype	protein_coding
OMIM	609877
Entrez	51084

Gene structure

Transcript identifiers

Ensembl transcripts: 19 — 12 protein_coding, 5 nonsense_mediated_decay, 1 protein_coding_CDS_not_defined, 1 retained_intron

ENST00000298248, ENST00000382812, ENST00000480748, ENST00000643035, ENST00000643750, ENST00000643887, ENST00000644153, ENST00000644167, ENST00000644593, ENST00000644872, ENST00000645525, ENST00000646414, ENST00000887613, ENST00000887615, ENST00000887617, ENST00000887619, ENST00000887621, ENST00000887622, ENST00000887623

RefSeq mRNA: 2 — MANE Select: NM_015974 NM_001363647, NM_015974

CCDS: CCDS41871, CCDS86344

Canonical transcript exons

ENST00000298248 — 8 exons

Exon	Start	End
ENSE00000825117	20404635	20404741
ENSE00001093413	20413282	20413387
ENSE00001600998	20489370	20489496
ENSE00003547444	20525754	20525857
ENSE00003596594	20512443	20512550
ENSE00003737575	20432102	20432296
ENSE00003743778	20439593	20439754
ENSE00003843035	20403669	20404242

Expression profiles

Bgee: expression breadth ubiquitous, 268 present calls, max score 98.59.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 16.1216 / max 195.3004, expressed in 1769 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136350	16.1216	1769

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
adult mammalian kidney	UBERON:0000082	98.59	gold quality
right lobe of liver	UBERON:0001114	98.43	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	97.80	gold quality
renal medulla	UBERON:0000362	97.64	gold quality
nephron tubule	UBERON:0001231	97.50	gold quality
spinal cord	UBERON:0002240	97.30	gold quality
liver	UBERON:0002107	96.84	gold quality
duodenum	UBERON:0002114	96.82	gold quality
metanephros cortex	UBERON:0010533	96.78	gold quality
mucosa of transverse colon	UBERON:0004991	96.65	gold quality
kidney	UBERON:0002113	96.59	gold quality
jejunal mucosa	UBERON:0000399	96.48	gold quality
kidney epithelium	UBERON:0004819	96.32	gold quality
nucleus accumbens	UBERON:0001882	96.18	gold quality
cortex of kidney	UBERON:0001225	96.01	gold quality
caudate nucleus	UBERON:0001873	95.84	gold quality
putamen	UBERON:0001874	95.71	gold quality
amygdala	UBERON:0001876	95.70	gold quality
hypothalamus	UBERON:0001898	95.48	gold quality
ileal mucosa	UBERON:0000331	95.41	gold quality
adult organism	UBERON:0007023	95.29	gold quality
small intestine Peyer’s patch	UBERON:0003454	95.24	gold quality
anterior cingulate cortex	UBERON:0009835	95.22	gold quality
cingulate cortex	UBERON:0003027	95.17	gold quality
substantia nigra	UBERON:0002038	95.13	gold quality
right frontal lobe	UBERON:0002810	95.10	gold quality
metanephric glomerulus	UBERON:0004736	94.92	gold quality
small intestine	UBERON:0002108	94.90	gold quality
lateral globus pallidus	UBERON:0002476	94.89	gold quality
renal glomerulus	UBERON:0000074	94.87	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-HCAD-10	yes	31.47
E-GEOD-135922	yes	20.57
E-ANND-3	yes	13.21

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): BMAL1

miRNA regulators (miRDB)

29 targeting CRYL1, 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-3064-3P	100.00	70.09	1254
HSA-MIR-4776-3P	100.00	68.73	1340
HSA-MIR-548P	99.98	72.25	3784
HSA-MIR-520D-5P	99.98	73.34	4883
HSA-MIR-524-5P	99.98	73.43	4882
HSA-MIR-1468-3P	99.96	72.74	3797
HSA-MIR-4698	99.84	71.41	4303
HSA-MIR-6132	99.60	65.83	1554
HSA-MIR-6836-5P	99.60	65.62	1538
HSA-MIR-12122	99.56	69.33	1672
HSA-MIR-105-5P	99.54	69.24	2060
HSA-MIR-7853-5P	99.54	69.30	2055
HSA-MIR-12123	99.52	71.79	2990
HSA-MIR-4687-3P	99.48	66.41	968
HSA-MIR-3064-5P	99.26	66.13	1497
HSA-MIR-3085-3P	99.26	66.16	1490
HSA-MIR-6504-5P	99.26	65.95	1487
HSA-MIR-7974	99.24	65.48	1137
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-892C-5P	99.16	70.56	2116
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4656	98.79	66.22	1306
HSA-MIR-1537-5P	98.70	68.33	999
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-506-5P	98.02	67.41	1065
HSA-MIR-5681A	97.99	67.17	1658
HSA-MIR-4446-3P	97.91	64.29	991
HSA-MIR-296-5P	97.61	64.02	851
HSA-MIR-6858-3P	96.37	64.41	771

Literature-anchored findings (GeneRIF, showing 3)

• Data suggest that the function of the fusion transcript crystallin, lambda 1 protein - intraflagellar transport 88 (CRYL1-IFT88) is closed to CRYL1 because it contained most of domain of CRYL1. (PMID:28489570)
• rabbit lambda-crystallin constitutes 7-8% of total lens protein (PMID:3170592)
• Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment. (PMID:37683890)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	cryl1	ENSDARG00000003675
mus_musculus	Cryl1	ENSMUSG00000021947
rattus_norvegicus	Cryl1	ENSRNOG00000008989
drosophila_melanogaster	Had2	FBGN0033949
drosophila_melanogaster	Had1	FBGN0286508
caenorhabditis_elegans	Y71F9B.9	WBGENE00022130

Paralogs (3): HADHA (ENSG00000084754), EHHADH (ENSG00000113790), HADH (ENSG00000138796)

Protein

Protein identifiers

Lambda-crystallin homolog — Q9Y2S2 (reviewed: Q9Y2S2)

Alternative names: L-gulonate 3-dehydrogenase

All UniProt accessions (9): A0A087WW38, A0A2R8Y4K2, A0A2R8Y5S5, A0A2R8Y699, A0A2R8Y7B4, A0A2R8YCZ4, A0A2R8YFQ7, Q9Y2S2, V9HWG2

UniProt curated annotations — full annotation on UniProt →

Function. Catalyzes the conversion of L-gulonate to 3-dehydro-L-gulonate. It also exhibits low dehydrogenase activity toward L-3-hydroxybutyrate (HBA) and L-threonate. Utilizes NAD as the sole cosubstrate and shows no activity with NADP.

Subunit / interactions. Homodimer.

Subcellular location. Cytoplasm.

Tissue specificity. Widely expressed, with highest levels in liver and kidney.

Activity regulation. Inhibited by malonate.

Similarity. Belongs to the 3-hydroxyacyl-CoA dehydrogenase family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9Y2S2-1	1	yes
Q9Y2S2-2	2

RefSeq proteins (2): NP_001350576, NP_057058* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006108	3HC_DH_C	Domain
IPR006176	3-OHacyl-CoA_DH_NAD-bd	Domain
IPR006180	3-OHacyl-CoA_DH_CS	Conserved_site
IPR008927	6-PGluconate_DH-like_C_sf	Homologous_superfamily
IPR013328	6PGD_dom2	Homologous_superfamily
IPR022694	3-OHacyl-CoA_DH	Family
IPR036291	NAD(P)-bd_dom_sf	Homologous_superfamily

Pfam: PF00725, PF02737

Catalyzed reactions (Rhea), 1 shown:

• L-gulonate + NAD(+) = 3-dehydro-L-gulonate + NADH + H(+) (RHEA:12889)

UniProt features (37 total): helix 15, strand 9, binding site 4, turn 3, modified residue 3, initiator methionine 1, chain 1, splice variant 1

Structure

Experimental structures (PDB)

1 structures.

PDB	Method	Resolution (Å)
3F3S	X-RAY DIFFRACTION	2

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9Y2S2-F1	96.66	0.97

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 (4): 16–17; 36; 97; 102

Post-translational modifications (3): 2, 3, 111

Function

Pathways and Gene Ontology

Reactome pathways

1 pathways

ID	Pathway
R-HSA-5661270	Formation of xylulose-5-phosphate

MSigDB gene sets: 172 (showing top): BENPORATH_ES_WITH_H3K27ME3, GAUSSMANN_MLL_AF4_FUSION_TARGETS_A_UP, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, SENGUPTA_NASOPHARYNGEAL_CARCINOMA_DN, GOBP_ORGANIC_ACID_CATABOLIC_PROCESS, YAO_TEMPORAL_RESPONSE_TO_PROGESTERONE_CLUSTER_6, GOBP_LIPID_METABOLIC_PROCESS, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_CATABOLIC_PROCESS, WHN_B, GOMF_OXIDOREDUCTASE_ACTIVITY_ACTING_ON_CH_OH_GROUP_OF_DONORS, GOBP_MONOCARBOXYLIC_ACID_CATABOLIC_PROCESS

GO Biological Process (2): fatty acid metabolic process (GO:0006631), obsolete D-glucuronate catabolic process to D-xylulose 5-phosphate (GO:0019640)

GO Molecular Function (5): protein homodimerization activity (GO:0042803), L-gulonate 3-dehydrogenase activity (GO:0050104), NAD+ binding (GO:0070403), oxidoreductase activity (GO:0016491), oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)

GO Cellular Component (3): cytosol (GO:0005829), extracellular exosome (GO:0070062), cytoplasm (GO:0005737)

Reactome top-level categories

Rollup of top-1 pathways:

Category	Pathways
Metabolism of carbohydrates and carbohydrate derivatives	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
lipid metabolic process	1
monocarboxylic acid metabolic process	1
identical protein binding	1
protein dimerization activity	1
oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	1
anion binding	1
NAD binding	1
catalytic activity	1
oxidoreductase activity, acting on CH-OH group of donors	1
cytoplasm	1
extracellular vesicle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

1980 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
CRYL1	KHDRBS2	Q5VWX1	817
CRYL1	ECHDC2	Q86YB7	582
CRYL1	CRYZL1	O95825	532
CRYL1	ALDH2	P05091	520
CRYL1	ACAA1	P09110	509
CRYL1	SORD	Q00796	494
CRYL1	HPGD	P15428	491
CRYL1	ZMYM2	Q9UBW7	475
CRYL1	ECI2	O75521	460
CRYL1	RHNO1	Q9BSD3	448
CRYL1	CWF19L2	Q2TBE0	439
CRYL1	ACSL5	Q9ULC5	438
CRYL1	TTLL5	Q6EMB2	427
CRYL1	PWP1	Q13610	425
CRYL1	DCAF11	Q8TEB1	418

IntAct

4 interactions, top by confidence:

A	B	Type	Score
CRYL1	ABCC6	psi-mi:“MI:0915”(physical association)	0.370
CRYL1	MYO9A	psi-mi:“MI:0914”(association)	0.350
BTG3	CRYL1	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (80): F2R (Affinity Capture-MS), PKD2 (Affinity Capture-MS), TRIM65 (Affinity Capture-MS), HTT (Affinity Capture-MS), SPG11 (Affinity Capture-MS), ANAPC5 (Affinity Capture-MS), C5orf34 (Affinity Capture-MS), DYNC2H1 (Affinity Capture-MS), SMG7 (Affinity Capture-MS), HAUS5 (Affinity Capture-MS), USP19 (Affinity Capture-MS), CEP164 (Affinity Capture-MS), PIK3C2A (Affinity Capture-MS), IFT122 (Affinity Capture-MS), CDC23 (Affinity Capture-MS)

ESM2 similar proteins: A1YER2, A1YFX9, A2T7G9, A6NNS2, B0BNF8, O35331, O35678, O75911, O77769, O80526, O88876, O95154, P11172, P14755, P15904, P27365, P84169, Q06136, Q15738, Q1RMJ5, Q28DS0, Q2KIJ5, Q2QNG7, Q2QZ86, Q3T067, Q3ZBE9, Q5I0K3, Q5PPL3, Q5R514, Q5R5C9, Q5RDZ2, Q6AY30, Q6GV12, Q6UWP2, Q811X6, Q86WA6, Q8CG45, Q8CG76, Q8JGT5, Q8K183

Diamond homologs: A4TR27, A7FDF2, A7MQP0, A9N453, A9R754, B1JP63, B1VLT7, B2K0Z6, B4SZR0, B4TCA8, B4TQC2, B5BBA1, B5EZR9, B5FPN1, B5R3R9, B5RCL3, D7B2S5, D7UNT2, D7URM0, P14755, P52041, P76083, P83589, P9WNP6, P9WNP7, Q0AVM2, Q1C2C4, Q1CN99, Q4V182, Q4ZSC0, Q57LW6, Q5LTH8, Q5PCX6, Q5RDZ2, Q62DG4, Q63MT0, Q66FR8, Q6D2L7, Q7D3B2, Q811X6

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	18
Likely pathogenic	2
Uncertain significance	70
Likely benign	8
Benign	92

Top pathogenic / likely-pathogenic (20)

Variant ID	HGVS	Classification
145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	Pathogenic
1527751	GRCh37/hg19 13q12.11(chr13:20797314-21034197)x1	Pathogenic
153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	Pathogenic
1809316	GRCh37/hg19 13q11-12.11(chr13:19436287-22089005)x1	Pathogenic
2424811	NC_000013.10:g.(?20797176)(21105944_?)del	Pathogenic
2500795	NC_000013.11:g.20222821_20531941del	Pathogenic
3063278	GRCh37/hg19 13q12.11(chr13:20796981-21104487)x1	Pathogenic
3244212	NC_000013.10:g.(?20472281)(24052335_?)del	Pathogenic
3244213	NC_000013.10:g.(?20763040)(21099933_?)del	Pathogenic
4083504	GRCh37/hg19 13q12.11(chr13:19748003-22275574)x1	Pathogenic
4279444	GRCh37/hg19 13q12.11(chr13:20796982-21104487)x1	Pathogenic
4526715	NC_000013.11:g.20223040_20531805del	Pathogenic
4820229	Single allele	Pathogenic
5548	NC_000013.11:g.(20228574_20228587)_(20460616_20460629)del	Pathogenic
57616	GRCh38/hg38 13q12.11(chr13:20249154-20521759)x1	Pathogenic
686477	GRCh37/hg19 13q12.11(chr13:20562171-22993375)x1	Pathogenic
915994	GRCh37/hg19 13q12.11(chr13:20803674-21030220)	Pathogenic
978789	Single allele	Pathogenic
564055	GRCh37/hg19 13q12.11(chr13:20605484-21759494)x1	Likely pathogenic
625812	GRCh37/hg19 13q12.11(chr13:19540031-22849981)	Likely pathogenic

SpliceAI

2390 predictions. Top by Δscore:

Variant	Effect	Δscore
13:20404737:CATAC:C	acceptor_gain	1.0000
13:20404748:T:C	acceptor_gain	1.0000
13:20404748:T:TC	acceptor_gain	1.0000
13:20432169:T:TA	donor_gain	1.0000
13:20432292:TTCAC:T	acceptor_gain	1.0000
13:20432293:TCAC:T	acceptor_gain	1.0000
13:20432294:CAC:C	acceptor_gain	1.0000
13:20432294:CACCT:C	acceptor_gain	1.0000
13:20432296:CC:C	acceptor_loss	1.0000
13:20432296:CCT:C	acceptor_gain	1.0000
13:20432297:C:CC	acceptor_gain	1.0000
13:20432297:C:T	acceptor_gain	1.0000
13:20432298:T:C	acceptor_gain	1.0000
13:20432298:T:TC	acceptor_gain	1.0000
13:20439584:AATAC:A	donor_loss	1.0000
13:20439585:ATAC:A	donor_loss	1.0000
13:20439586:TAC:T	donor_loss	1.0000
13:20439587:AC:A	donor_loss	1.0000
13:20439588:C:CG	donor_loss	1.0000
13:20439589:TC:T	donor_loss	1.0000
13:20439590:CACA:C	donor_loss	1.0000
13:20439591:A:AC	donor_gain	1.0000
13:20439591:A:T	donor_loss	1.0000
13:20439592:C:CC	donor_gain	1.0000
13:20439592:CA:C	donor_gain	1.0000
13:20439592:CAGG:C	donor_gain	1.0000
13:20439592:CAGGA:C	donor_gain	1.0000
13:20439750:CATTC:C	acceptor_gain	1.0000
13:20439753:TCC:T	acceptor_loss	1.0000
13:20439754:CCTGA:C	acceptor_loss	1.0000

AlphaMissense

2103 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:20439668:A:C	S121R	0.998
13:20439668:A:T	S121R	0.998
13:20439670:T:G	S121R	0.998
13:20439598:G:C	H145D	0.996
13:20432156:G:C	F193L	0.995
13:20432156:G:T	F193L	0.995
13:20432158:A:G	F193L	0.995
13:20432291:A:C	N148K	0.994
13:20432291:A:T	N148K	0.994
13:20439596:A:C	H145Q	0.994
13:20439596:A:T	H145Q	0.994
13:20439725:C:A	K102N	0.994
13:20439725:C:G	K102N	0.994
13:20413293:A:G	L243P	0.993
13:20413314:C:T	G236E	0.993
13:20439671:G:C	S120R	0.993
13:20439671:G:T	S120R	0.993
13:20439673:T:G	S120R	0.993
13:20439749:A:C	C94W	0.993
13:20512531:A:G	W21R	0.993
13:20512531:A:T	W21R	0.993
13:20404183:C:A	R302S	0.991
13:20404183:C:G	R302S	0.991
13:20512528:C:G	A22P	0.991
13:20432147:G:C	N196K	0.990
13:20432147:G:T	N196K	0.990
13:20439751:A:G	C94R	0.990
13:20413289:A:C	N244K	0.989
13:20413289:A:T	N244K	0.989
13:20432145:C:G	R197P	0.989

dbSNP variants (sampled 300 via entrez): RS1000000490 (13:20464166 G>A), RS1000002395 (13:20472713 G>A), RS1000047251 (13:20460715 T>C), RS1000094978 (13:20464397 A>C), RS1000115126 (13:20510686 C>G), RS1000121068 (13:20416573 C>G), RS1000126814 (13:20503397 G>C), RS1000163567 (13:20416320 G>A), RS1000187548 (13:20456615 C>A,T), RS1000205255 (13:20457988 T>C), RS1000225909 (13:20497531 C>T), RS1000237527 (13:20495461 C>A), RS1000245623 (13:20449481 A>C), RS1000294692 (13:20497833 C>T), RS1000317220 (13:20470418 C>T)

Disease associations

OMIM: gene MIM:609877 | disease phenotypes: MIM:129500, MIM:220290, MIM:612643, MIM:612645, MIM:601885

GenCC curated gene-disease

Mondo (6): Clouston syndrome (MONDO:0007510), autosomal recessive nonsyndromic hearing loss 1A (MONDO:0009076), autosomal dominant nonsyndromic hearing loss 3B (MONDO:0012975), autosomal recessive nonsyndromic hearing loss 1B (MONDO:0012977), cataract 14 multiple types (MONDO:0011162), nonsyndromic genetic hearing loss (MONDO:0019497)

Orphanet (5): Hidrotic ectodermal dysplasia (Orphanet:189), Rare autosomal dominant non-syndromic sensorineural deafness type DFNA (Orphanet:90635), Rare autosomal recessive non-syndromic sensorineural deafness type DFNB (Orphanet:90636), Early onset non-syndromic cataract (Orphanet:91492), Rare non-syndromic genetic deafness (Orphanet:87884)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

2 associations (top):

Study	Trait	p-value
GCST001762_387	Obesity-related traits	5.000000e-06
GCST002004_3	Adverse response to chemotherapy (neutropenia/leucopenia) (carboplatin)	5.000000e-06

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004340	body mass index

MeSH disease descriptors (5)

Descriptor	Name	Tree numbers
C566608	Cataract, Zonular Pulverulent 3 (supp.)
C567215	Deafness, Autosomal Dominant 3B (supp.)
C567134	Deafness, Autosomal Recessive 1A (supp.)
C567213	Deafness, Autosomal Recessive 1b (supp.)
C580334	Nonsyndromic Deafness (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Aflatoxin B1	affects methylation, decreases expression, affects expression	5
Benzo(a)pyrene	affects methylation, decreases expression	4
Valproic Acid	affects expression, decreases expression, increases expression, increases methylation	4
Tetrachlorodibenzodioxin	affects cotreatment, increases expression	3
Cadmium	increases abundance, increases expression	2
Tretinoin	decreases expression, increases expression	2
Cyclosporine	decreases expression	2
pirinixic acid	affects binding, increases activity, increases expression	1
bisphenol A	affects methylation	1
deoxynivalenol	decreases expression	1
arsenite	affects binding, increases reaction	1
sodium bichromate	decreases expression	1
sodium arsenite	increases expression	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
dinophysistoxin 1	decreases expression	1
entinostat	increases expression	1
jinfukang	increases expression	1
excavatolide B	decreases expression	1
Sunitinib	decreases expression	1
Acetaminophen	decreases expression	1
Arsenic	affects methylation	1
Atrazine	increases expression	1
Cycloheximide	affects cotreatment, increases expression	1
Fluorouracil	affects reaction, decreases expression	1
Hydrogen Peroxide	affects expression	1
Ivermectin	decreases expression	1
Manganese	increases expression	1
Methapyrilene	decreases methylation	1
Methotrexate	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05402813	Not specified	RECRUITING	Natural History in Children up to 16 Years With Mild to Profound Hearing Loss Due to Mutations in GJB2 / OTOF Genes
NCT01802190	Not specified	TERMINATED	Prevalence of POU4F3 and SLC17A8 Mutations