KRT3

Summary

KRT3 (keratin 3, HGNC:6440) is a protein-coding gene on chromosome 12q13.13, encoding Keratin, type II cytoskeletal 3 (P12035).

The protein encoded by this gene is a member of the keratin gene family. The type II cytokeratins consist of basic or neutral proteins which are arranged in pairs of heterotypic keratin chains coexpressed during differentiation of simple and stratified epithelial tissues. This type II cytokeratin is specifically expressed in the corneal epithelium with family member KRT12 and mutations in these genes have been associated with Meesmann’s Corneal Dystrophy. The type II cytokeratins are clustered in a region of chromosome 12q12-q13.

Source: NCBI Gene 3850 — RefSeq curated summary.

At a glance

• Gene–disease (curated): corneal dystrophy, Meesmann, 1 (Strong, GenCC) — +2 more curated relationships
• Clinical variants (ClinVar): 170 total — 3 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 4
• MANE Select transcript: NM_057088

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:6440
Approved symbol	KRT3
Name	keratin 3
Location	12q13.13
Locus type	gene with protein product
Status	Approved
Aliases	CK3, K3
Ensembl gene	ENSG00000186442
Ensembl biotype	protein_coding
OMIM	148043
Entrez	3850

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000417996

RefSeq mRNA: 1 — MANE Select: NM_057088 NM_057088

CCDS: CCDS44895

Canonical transcript exons

ENST00000417996 — 9 exons

Exon	Start	End
ENSE00001192083	52791691	52791816
ENSE00001192093	52792711	52792806
ENSE00001192106	52794111	52794331
ENSE00001595083	52790838	52790872
ENSE00001657547	52793163	52793223
ENSE00001729355	52792239	52792403
ENSE00001745740	52791206	52791426
ENSE00002337704	52795398	52796117
ENSE00002379987	52789685	52790358

Expression profiles

Bgee: expression breadth broad, 35 present calls, max score 81.17.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0601 / max 74.8899, expressed in 7 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
131124	0.0601	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
gingiva	UBERON:0001828	81.17	gold quality
gingival epithelium	UBERON:0001949	76.28	silver quality
tendon of biceps brachii	UBERON:0008188	76.19	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	74.11	gold quality
lower esophagus mucosa	UBERON:0035834	70.84	gold quality
body of tongue	UBERON:0011876	67.69	gold quality
esophagus mucosa	UBERON:0002469	66.41	gold quality
gluteal muscle	UBERON:0002000	65.79	gold quality
triceps brachii	UBERON:0001509	65.00	gold quality
vena cava	UBERON:0004087	64.17	gold quality
tongue	UBERON:0001723	61.09	gold quality
myocardium	UBERON:0002349	60.81	gold quality
pancreatic ductal cell	CL:0002079	60.01	silver quality
dorsal motor nucleus of vagus nerve	UBERON:0002870	59.47	gold quality
parotid gland	UBERON:0001831	59.39	gold quality
cartilage tissue	UBERON:0002418	59.02	gold quality
cerebellar vermis	UBERON:0004720	58.08	gold quality
inferior olivary complex	UBERON:0002127	57.93	gold quality
heart right ventricle	UBERON:0002080	57.81	gold quality
saphenous vein	UBERON:0007318	57.70	gold quality
trabecular bone tissue	UBERON:0002483	57.47	gold quality
nasal cavity epithelium	UBERON:0005384	57.42	gold quality
nipple	UBERON:0002030	57.28	gold quality
vastus lateralis	UBERON:0001379	56.96	gold quality
quadriceps femoris	UBERON:0001377	56.68	gold quality
synovial joint	UBERON:0002217	56.68	gold quality
pharyngeal mucosa	UBERON:0000355	56.65	gold quality
penis	UBERON:0000989	56.25	gold quality
deltoid	UBERON:0001476	55.75	gold quality
mucosa of sigmoid colon	UBERON:0004993	55.18	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	13.41

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): PAX6

miRNA regulators (miRDB)

14 targeting KRT3, 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-4533	100.00	69.48	2758
HSA-MIR-6825-5P	99.96	69.81	3431
HSA-MIR-6763-5P	99.76	64.68	1767
HSA-MIR-3150A-3P	99.76	64.44	1640
HSA-MIR-499A-3P	99.18	69.20	1392
HSA-MIR-499B-3P	99.18	69.27	1391
HSA-MIR-192-3P	97.52	67.66	1001
HSA-MIR-6501-5P	97.41	68.24	712
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-1343-5P	96.48	66.06	1506
HSA-MIR-1237-5P	95.38	62.21	451
HSA-MIR-4488	95.38	62.00	443
HSA-MIR-4697-5P	95.38	61.72	457
HSA-MIR-4738-5P	87.41	60.29	56

Literature-anchored findings (GeneRIF, showing 6)

• A novel missense mutation (R503P) in KRT3 leads to MCD in 2 unrelated Taiwanese families. (PMID:16227835)
• Location of the E498V mutation emphasizes the functional relevance of the highly conserved boundary motifs at the COOH-terminus of the alpha-helical rod domain in keratin 3 (K3). (PMID:18806880)
• Exon sequencing of KRT3 and KRT12 in six affected and eight unaffected individuals did not detect any mutations or nucleotide sequence variants in Meesmann epithelial corneal dystrophy. (PMID:23569037)
• we show that the two PAX6 isoforms differentially and cooperatively regulate the expression of genes specific to the structure and functions of the corneal epithelium, particularly keratin 3 (KRT3) and keratin 12 (KRT12). PAX6 isoform-a induced KRT3 expression by targeting its upstream region. KLF4 enhanced this induction. A combination of PAX6 isoform-b, KLF4, and OCT4 induced KRT12 expression (PMID:26899008)
• RT-PCR showed that K3 and K12 transcripts were absent from patient cells, but present in healthy control preparations. (PMID:29162348)
• Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report. (PMID:33346999)

Cross-species orthologs

0 orthologs

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), BFSP2 (ENSG00000170819), KRT19 (ENSG00000171345), KRT15 (ENSG00000171346), KRT38 (ENSG00000171360)

Protein

Protein identifiers

Keratin, type II cytoskeletal 3 — P12035 (reviewed: P12035)

Alternative names: 65 kDa cytokeratin, Cytokeratin-3, Keratin-3, Type-II keratin Kb3

All UniProt accessions (1): P12035

UniProt curated annotations — full annotation on UniProt →

Subunit / interactions. Heterotetramer of two type I and two type II keratins. Keratin-3 associates with keratin-12.

Tissue specificity. Cornea specific.

Disease relevance. Corneal dystrophy, Meesmann 2 (MECD2) [MIM:618767] A form of Meesmann corneal dystrophy, a corneal disease characterized by fragility of the anterior corneal epithelium. Histological examination shows a disorganized and thickened epithelium with widespread cytoplasmic vacuolation and numerous small, round, debris-laden intraepithelial cysts. Patients are usually asymptomatic until adulthood when rupture of the corneal microcysts may cause erosions, producing clinical symptoms such as photophobia, contact lens intolerance and intermittent diminution of visual acuity. Rarely, subepithelial scarring causes irregular corneal astigmatism and permanent visual impairment. MECD2 inheritance is autosomal dominant. The disease is caused by variants affecting the gene represented in this entry.

Miscellaneous. There are two types of cytoskeletal and microfibrillar keratin: I (acidic; 40-55 kDa) and II (neutral to basic; 56-70 kDa).

Similarity. Belongs to the intermediate filament family.

RefSeq proteins (1): NP_476429* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR003054	Keratin_II	Family
IPR018039	IF_conserved	Conserved_site
IPR032444	Keratin_2_head	Domain
IPR039008	IF_rod_dom	Domain

Pfam: PF00038, PF16208

UniProt features (31 total): sequence conflict 11, region of interest 9, modified residue 4, sequence variant 4, chain 1, domain 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P12035-F1	66.82	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.

Post-translational modifications (4): 13, 56, 296, 364

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-6805567	Keratinization
R-HSA-6809371	Formation of the cornified envelope
R-HSA-1266738	Developmental Biology

MSigDB gene sets: 57 (showing top): GOBP_EPITHELIUM_DEVELOPMENT, GOBP_INTERMEDIATE_FILAMENT_BASED_PROCESS, GU_PDEF_TARGETS_DN, GOBP_INTERMEDIATE_FILAMENT_ORGANIZATION, GOBP_EPIDERMAL_CELL_DIFFERENTIATION, GOBP_EPIDERMIS_DEVELOPMENT, IK2_01, GOBP_KERATINIZATION, GOBP_SKIN_DEVELOPMENT, PITX2_Q2, GOCC_INTERMEDIATE_FILAMENT_CYTOSKELETON, GOCC_KERATIN_FILAMENT, GOMF_STRUCTURAL_MOLECULE_ACTIVITY, GOBP_SUPRAMOLECULAR_FIBER_ORGANIZATION, BOSCO_EPITHELIAL_DIFFERENTIATION_MODULE

GO Biological Process (4): epithelial cell differentiation (GO:0030855), keratinization (GO:0031424), intermediate filament cytoskeleton organization (GO:0045104), intermediate filament organization (GO:0045109)

GO Molecular Function (2): structural constituent of skin epidermis (GO:0030280), protein binding (GO:0005515)

GO Cellular Component (4): cytosol (GO:0005829), intermediate filament (GO:0005882), keratin filament (GO:0045095), extracellular exosome (GO:0070062)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Developmental Biology	1
Keratinization	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cell differentiation	1
epithelium development	1
keratinocyte differentiation	1
multicellular organismal process	1
cytoskeleton organization	1
intermediate filament-based process	1
intermediate filament cytoskeleton organization	1
supramolecular fiber organization	1
structural molecule activity	1
binding	1
cytoplasm	1
cellular anatomical structure	1
intermediate filament cytoskeleton	1
polymeric cytoskeletal fiber	1
intermediate filament	1
extracellular vesicle	1

Protein interactions and networks

STRING

993 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
KRT3	ABCG2	Q9UNQ0	647
KRT3	KERA	O60938	595
KRT3	CHST6	Q9GZX3	583
KRT3	NRP1	O14786	572
KRT3	UBIAD1	Q9Y5Z9	549
KRT3	GJA1	P17302	523
KRT3	ALDH3A1	P30838	488
KRT3	TGFBI	Q15582	487
KRT3	PAX6	P26367	479
KRT3	SLC4A11	Q8NBS3	440
KRT3	ABCB5	Q2M3G0	422
KRT3	PNCK	Q6P2M8	408
KRT3	COL8A2	P25067	406
KRT3	TACSTD2	P09758	401
KRT3	KRT1	P04264	396

IntAct

143 interactions, top by confidence:

A	B	Type	Score
KRT3		psi-mi:“MI:0915”(physical association)	0.560
KRT3	PLEKHG4	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT31	psi-mi:“MI:0915”(physical association)	0.560
KRT3	TRIM54	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT26	psi-mi:“MI:0915”(physical association)	0.560
KRT36	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT34	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT16	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT28	psi-mi:“MI:0915”(physical association)	0.560
KRT3	TRAF1	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT39	psi-mi:“MI:0915”(physical association)	0.560
KRT38	KRT3	psi-mi:“MI:0915”(physical association)	0.560
HGS	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT3	SPAG5	psi-mi:“MI:0915”(physical association)	0.560
KRT75	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT3	NUP62	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT35	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT20	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT25	psi-mi:“MI:0915”(physical association)	0.560
KRT3	LURAP1	psi-mi:“MI:0915”(physical association)	0.560
KRT19	KRT3	psi-mi:“MI:0915”(physical association)	0.560
	KRT3	psi-mi:“MI:0915”(physical association)	0.560
KRT3	LHX3	psi-mi:“MI:0915”(physical association)	0.560
KRT3	C3orf62	psi-mi:“MI:0915”(physical association)	0.560
KRT3	BPIFA1	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRT24	psi-mi:“MI:0915”(physical association)	0.560
KRT3	HAUS1	psi-mi:“MI:0915”(physical association)	0.560
KRT3	CCDC197	psi-mi:“MI:0915”(physical association)	0.560
KRT3	WWOX	psi-mi:“MI:0915”(physical association)	0.560
KRT3	KRTAP13-2	psi-mi:“MI:0915”(physical association)	0.560

BioGRID (105): KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Affinity Capture-MS), KRT3 (Two-hybrid), KRT3 (Two-hybrid)

ESM2 similar proteins: A5A6M6, A5A6M8, O95678, P02535, P02537, P02538, P04104, P04259, P04264, P06394, P07744, P08776, P12035, P13645, P13647, P16878, P18520, P19013, P35527, P35908, P48668, P50446, Q01546, Q08D91, Q148H7, Q29426, Q2M2I5, Q3TTY5, Q3UV17, Q4FZU2, Q5XQN5, Q6EIY9, Q6EIZ0, Q6EIZ1, Q6IFW6, Q6IFZ6, Q6IG00, Q6IG01, Q6IG02, Q6IG05

Diamond homologs: A0A125S9M6, A0JND2, A4FUZ0, A5A6M8, A6NCN2, A7YWK3, O43790, P02542, P02545, P02547, P02548, P04104, P04260, P04261, P04262, P04263, P07196, P07744, P08551, P08928, P09010, P10999, P12035, P12036, P13647, P13648, P15241, P16884, P19013, P19246, P19527, P21619, P21910, P25691, P35908, P48671, P48672, P48678, P48679, P78385

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 66 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	18	35.9×	5e-22
Keratinization	19	24.1×	3e-20

GO biological processes:

GO term	Partners	Fold	FDR
morphogenesis of an epithelium	17	102.6×	7e-29
intermediate filament organization	19	80.2×	7e-30
epithelial cell differentiation	15	46.2×	1e-19

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	1
Uncertain significance	107
Likely benign	20
Benign	25

Top pathogenic / likely-pathogenic (4)

Variant ID	HGVS	Classification
14632	NM_057088.3(KRT3):c.1525G>A (p.Glu509Lys)	Pathogenic
66748	NM_057088.3(KRT3):c.1493A>T (p.Glu498Val)	Pathogenic
66749	NM_057088.3(KRT3):c.1508G>C (p.Arg503Pro)	Pathogenic
2628033	NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)	Likely pathogenic

SpliceAI

1022 predictions. Top by Δscore:

Variant	Effect	Δscore
12:52790354:CACGG:C	acceptor_gain	1.0000
12:52790356:CGG:C	acceptor_gain	1.0000
12:52790359:C:CC	acceptor_gain	1.0000
12:52790836:A:AC	donor_gain	1.0000
12:52790837:C:CC	donor_gain	1.0000
12:52791201:CTCA:C	donor_loss	1.0000
12:52791202:TCA:T	donor_loss	1.0000
12:52791203:CACC:C	donor_loss	1.0000
12:52791204:A:AC	donor_gain	1.0000
12:52791205:C:CC	donor_gain	1.0000
12:52791205:CCT:C	donor_gain	1.0000
12:52791422:GCATT:G	acceptor_gain	1.0000
12:52791423:CATT:C	acceptor_gain	1.0000
12:52791423:CATTC:C	acceptor_gain	1.0000
12:52791424:ATT:A	acceptor_gain	1.0000
12:52791425:TT:T	acceptor_gain	1.0000
12:52791427:C:CC	acceptor_gain	1.0000
12:52791433:C:CT	acceptor_gain	1.0000
12:52791434:A:T	acceptor_gain	1.0000
12:52791812:CCCAA:C	acceptor_gain	1.0000
12:52791813:CCAA:C	acceptor_gain	1.0000
12:52791813:CCAAC:C	acceptor_gain	1.0000
12:52791814:CAA:C	acceptor_gain	1.0000
12:52791814:CAAC:C	acceptor_gain	1.0000
12:52791815:AA:A	acceptor_gain	1.0000
12:52791816:AC:A	acceptor_loss	1.0000
12:52791817:C:CC	acceptor_gain	1.0000
12:52792236:CACCT:C	donor_loss	1.0000
12:52792237:A:AC	donor_gain	1.0000
12:52792238:C:CC	donor_gain	1.0000

AlphaMissense

4113 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
12:52792262:C:G	A389P	0.996
12:52791806:A:G	L400P	0.993
12:52793166:C:A	K308N	0.993
12:52793166:C:G	K308N	0.993
12:52795416:A:C	F209L	0.992
12:52795416:A:T	F209L	0.992
12:52795418:A:G	F209L	0.992
12:52792272:G:C	S385R	0.988
12:52792272:G:T	S385R	0.988
12:52792274:T:G	S385R	0.988
12:52792283:C:G	A382P	0.988
12:52792357:A:G	L357P	0.985
12:52792772:A:G	L321P	0.982
12:52791795:C:G	A404P	0.981
12:52792295:A:G	Y378H	0.981
12:52793178:A:C	F304L	0.981
12:52793178:A:T	F304L	0.981
12:52793180:A:G	F304L	0.981
12:52791233:C:G	R503P	0.979
12:52791773:A:G	L411P	0.979
12:52792295:A:C	Y378D	0.978
12:52792306:A:T	V374D	0.978
12:52792357:A:T	L357Q	0.977
12:52794312:T:G	Q222P	0.977
12:52795417:A:C	F209C	0.977
12:52791227:A:G	L505P	0.976
12:52792348:T:A	D360V	0.976
12:52792250:A:C	Y393D	0.975
12:52792303:C:G	R375P	0.975
12:52792339:C:G	R363P	0.975

dbSNP variants (sampled 300 via entrez): RS1000135644 (12:52794969 C>G,T), RS1000277626 (12:52793764 G>C), RS1000613049 (12:52794018 C>T), RS1000753374 (12:52790674 G>A), RS1001650020 (12:52795638 A>C,G,T), RS1001983732 (12:52797405 T>A,C), RS1002523411 (12:52792026 G>C), RS1002908555 (12:52789887 C>A), RS1002969230 (12:52790316 T>C), RS1003659895 (12:52796082 G>A), RS1003783165 (12:52790745 G>A,T), RS1003929355 (12:52790493 C>G,T), RS1004599059 (12:52797786 C>T), RS1005478093 (12:52795058 T>G), RS1005491924 (12:52794492 C>T)

Disease associations

OMIM: gene MIM:148043 | disease phenotypes: MIM:618767, MIM:217700

GenCC curated gene-disease

Disease	Classification	Inheritance
corneal dystrophy, Meesmann, 1	Strong	Autosomal dominant
corneal dystrophy, Meesmann, 2	Strong	Autosomal dominant
Meesmann corneal dystrophy	Supportive	Autosomal dominant

Mondo (4): corneal dystrophy, Meesmann, 2 (MONDO:0032904), congenital hereditary endothelial dystrophy of cornea (MONDO:0009019), corneal dystrophy, Meesmann, 1 (MONDO:0020791), Meesmann corneal dystrophy (MONDO:0007379)

Orphanet (1): Congenital hereditary endothelial dystrophy type II (Orphanet:293603)

HPO phenotypes

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

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000495	Recurrent corneal erosions
HP:0000613	Photophobia
HP:0009926	Epiphora

GWAS associations

0 associations (top):

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D053559	Corneal Dystrophy, Juvenile Epithelial of Meesmann	C11.204.236.218; C11.270.162.218; C16.320.290.162.204
C536439	Corneal endothelial dystrophy type 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

11 total (human), top 11 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	affects methylation, increases methylation	2
Tobacco Smoke Pollution	affects expression, increases expression	2
sodium arsenite	affects expression	1
benzo(e)pyrene	increases methylation	1
2,3,5-(triglutathion-S-yl)hydroquinone	decreases ADP-ribosylation	1
CGP 52608	affects binding, increases reaction	1
Air Pollutants	increases abundance, increases expression	1
Atrazine	increases expression	1
Methapyrilene	increases methylation	1
Triclosan	increases expression	1
Particulate Matter	increases expression, increases abundance	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT05136443	PHASE4	COMPLETED	Loteprednol Etabonate 0.25% for Prevention of Cornea Transplant Rejection
NCT03575130	PHASE2	UNKNOWN	Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy
NCT04812067	PHASE2	COMPLETED	A Safety and Efficacy Trial of TTHX1114 in People With CED
NCT04843839	PHASE2	UNKNOWN	CHED - Congenital Hereditary Endothelial Dystrophy: New Paradigm Shift in Therapy Using Topical Eye Drops
NCT04191629	PHASE1	UNKNOWN	Phase 1 Study to Evaluate the Safety and Tolerability of EO1404 in the Treatment of Corneal Edema
NCT04894110	PHASE1	COMPLETED	Study of Safety and Tolerability of EO2002 in the Treatment of Corneal Edema
NCT05636579	PHASE1	RECRUITING	Study to Assess Safety and Tolerability of Multiple Doses of EO2002
NCT04520321	PHASE1/PHASE2	COMPLETED	A Phase 1/ Phase 2 Study of TTHX1114(NM141)