AGBL1

Summary

AGBL1 (AGBL carboxypeptidase 1, HGNC:26504) is a protein-coding gene on chromosome 15q25.3, encoding Cytosolic carboxypeptidase 4 (Q96MI9). Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins.

Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy.

Source: NCBI Gene 123624 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fuchs’ endothelial dystrophy (Supportive, GenCC) — +1 more curated relationship
• GWAS associations: 26
• Clinical variants (ClinVar): 259 total
• Phenotypes (HPO): 13
• MANE Select transcript: NM_001386094

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:26504
Approved symbol	AGBL1
Name	AGBL carboxypeptidase 1
Location	15q25.3
Locus type	gene with protein product
Status	Approved
Aliases	FLJ32310, CCP4
Ensembl gene	ENSG00000273540
Ensembl biotype	protein_coding
OMIM	615496
Entrez	123624

Gene structure

Transcript identifiers

Ensembl transcripts: 6 — 2 protein_coding, 2 protein_coding_CDS_not_defined, 2 retained_intron

ENST00000441037, ENST00000560803, ENST00000567715, ENST00000568785, ENST00000614907, ENST00000681381

RefSeq mRNA: 2 — MANE Select: NM_001386094 NM_001386094, NM_152336

CCDS: CCDS58398, CCDS92052

Canonical transcript exons

ENST00000614907 — 23 exons

Exon	Start	End
ENSE00001683681	86142004	86142067
ENSE00003733677	86907087	86916156
ENSE00003799475	86143699	86143845
ENSE00003801973	86397366	86397546
ENSE00003802499	86271619	86271706
ENSE00003803294	86674273	86674436
ENSE00003803467	86224914	86224951
ENSE00003804927	86158933	86159026
ENSE00003805532	86295255	86295408
ENSE00003806184	86269919	86270067
ENSE00003806233	86247671	86247879
ENSE00003806528	86262778	86262894
ENSE00003807776	86546002	86546133
ENSE00003807779	86554361	86554537
ENSE00003807946	86154430	86154561
ENSE00003808039	86266374	86266457
ENSE00003808825	86522810	86522939
ENSE00003810049	86264258	86264838
ENSE00003810581	86257964	86258031
ENSE00003810752	86256853	86257018
ENSE00003811189	86266990	86267076
ENSE00003811395	86279639	86279783
ENSE00003913186	86079871	86080023

Expression profiles

Bgee: expression breadth broad, 82 present calls, max score 86.82.

FANTOM5 (CAGE): breadth broad, TPM avg 0.8130 / max 87.8376, expressed in 183 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
148259	0.2260	45
148256	0.2164	42
148265	0.1478	100
148258	0.1234	37
148257	0.0699	27
148262	0.0296	11

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
biceps brachii	UBERON:0001507	86.82	gold quality
hindlimb stylopod muscle	UBERON:0004252	85.68	gold quality
deltoid	UBERON:0001476	83.14	gold quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	82.63	gold quality
skeletal muscle tissue	UBERON:0001134	80.87	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	79.76	gold quality
quadriceps femoris	UBERON:0001377	78.23	silver quality
gastrocnemius	UBERON:0001388	78.11	gold quality
tibialis anterior	UBERON:0001385	77.76	silver quality
muscle of leg	UBERON:0001383	77.68	gold quality
vastus lateralis	UBERON:0001379	77.58	gold quality
muscle tissue	UBERON:0002385	74.90	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	73.60	gold quality
buccal mucosa cell	CL:0002336	71.80	silver quality
body of tongue	UBERON:0011876	71.23	gold quality
ileal mucosa	UBERON:0000331	69.11	silver quality
visceral pleura	UBERON:0002401	65.92	gold quality
tongue	UBERON:0001723	64.01	gold quality
pancreatic ductal cell	CL:0002079	63.69	silver quality
nucleus accumbens	UBERON:0001882	60.34	gold quality
ventricular zone	UBERON:0003053	58.42	gold quality
sperm	CL:0000019	58.11	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	57.59	gold quality
myocardium	UBERON:0002349	56.60	gold quality
cardiac muscle of right atrium	UBERON:0003379	54.34	gold quality
left ventricle myocardium	UBERON:0006566	54.23	gold quality
kidney epithelium	UBERON:0004819	53.93	gold quality
upper arm skin	UBERON:0004263	53.52	gold quality
cerebellar vermis	UBERON:0004720	52.88	gold quality
prefrontal cortex	UBERON:0000451	52.87	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.46
E-MTAB-3929	no	30.97

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

27 targeting AGBL1, 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-4500	99.99	72.72	2367
HSA-LET-7A-5P	99.98	72.29	1790
HSA-LET-7B-5P	99.98	72.31	1790
HSA-LET-7C-5P	99.98	72.29	1790
HSA-LET-7E-5P	99.98	72.29	1790
HSA-LET-7F-5P	99.98	72.56	1784
HSA-LET-7G-5P	99.98	72.37	1784
HSA-LET-7I-5P	99.98	72.37	1788
HSA-MIR-98-5P	99.98	72.33	1787
HSA-LET-7D-5P	99.96	71.76	1632
HSA-MIR-4458	99.96	71.64	1650
HSA-MIR-8082	99.95	67.27	1170
HSA-MIR-4307	99.82	70.45	3374
HSA-MIR-3617-5P	99.75	69.41	1968
HSA-MIR-641	99.75	69.35	1975
HSA-MIR-587	99.64	70.86	2611
HSA-MIR-3942-3P	99.57	69.03	2854
HSA-MIR-670-3P	99.03	68.88	2404
HSA-MIR-1843	98.97	66.07	838
HSA-MIR-4802-5P	98.97	66.26	833
HSA-MIR-138-2-3P	98.91	68.33	1643
HSA-MIR-4635	98.74	67.63	1339
HSA-MIR-12114	98.70	63.45	730
HSA-MIR-4294	97.86	65.72	1110
HSA-MIR-214-5P	97.34	66.50	617
HSA-MIR-28-3P	96.42	67.18	579
HSA-MIR-6802-5P	94.94	65.95	366

Literature-anchored findings (GeneRIF, showing 2)

• That AGBL1 interacts biochemically with the FCD-associated protein TCF4. (PMID:24094747)
• rs4513061 in AGBL1 Gene is associated with decrease in the risk of lung cancer. (PMID:31603707)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	agbl1	ENSDARG00000104384
mus_musculus	Agbl1	ENSMUSG00000025754
rattus_norvegicus	Agbl1	ENSRNOG00000022610

Paralogs (5): AGBL5 (ENSG00000084693), AGTPBP1 (ENSG00000135049), AGBL3 (ENSG00000146856), AGBL2 (ENSG00000165923), AGBL4 (ENSG00000186094)

Protein

Protein identifiers

Cytosolic carboxypeptidase 4 — Q96MI9 (reviewed: Q96MI9)

Alternative names: ATP/GTP-binding protein-like 1, Protein deglutamylase CCP4

All UniProt accessions (2): Q96MI9, A0A1B0GVQ2

UniProt curated annotations — full annotation on UniProt →

Function. Metallocarboxypeptidase that mediates deglutamylation of tubulin and non-tubulin target proteins. Catalyzes the removal of polyglutamate side chains present on the gamma-carboxyl group of glutamate residues within the C-terminal tail of tubulin protein. Specifically cleaves tubulin long-side-chains, while it is not able to remove the branching point glutamate. Also catalyzes the removal of polyglutamate residues from the carboxy-terminus of non-tubulin proteins such as MYLK.

Subunit / interactions. Interacts with MYLK. Interacts with TCF4.

Subcellular location. Cytoplasm. Cytosol.

Tissue specificity. Expressed in corneal endothelium.

Disease relevance. Corneal dystrophy, Fuchs endothelial, 8 (FECD8) [MIM:615523] A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. The disease is caused by variants affecting the gene represented in this entry.

Cofactor. Binds 1 zinc ion per subunit.

Similarity. Belongs to the peptidase M14 family.

RefSeq proteins (2): NP_001373023, NP_689549 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000834	Peptidase_M14	Domain
IPR011989	ARM-like	Homologous_superfamily
IPR016024	ARM-type_fold	Homologous_superfamily
IPR033852	CBPC1/4	Domain
IPR040626	Pepdidase_M14_N	Domain
IPR050821	Cytosolic_carboxypeptidase	Family

Pfam: PF00246, PF18027, PF25571

Catalyzed reactions (Rhea), 2 shown:

• (L-glutamyl)(n+1)-gamma-L-glutamyl-L-glutamyl-[protein] + H2O = (L-glutamyl)(n)-gamma-L-glutamyl-L-glutamyl-[protein] + L-glutamate (RHEA:60004)
• C-terminal L-alpha-aminoacyl-L-glutamyl-L-glutamyl-[tubulin] + H2O = C-terminal L-alpha-aminoacyl-L-glutamyl-[tubulin] + L-glutamate (RHEA:63792)

UniProt features (17 total): sequence variant 5, sequence conflict 4, binding site 3, chain 1, domain 1, region of interest 1, compositionally biased region 1, active site 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96MI9-F1	78.53	0.57

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 (1): 986 (proton donor/acceptor)

Ligand- & substrate-binding residues (3): 804; 807; 901

Function

Pathways and Gene Ontology

Reactome pathways

3 pathways

ID	Pathway
R-HSA-8955332	Carboxyterminal post-translational modifications of tubulin
R-HSA-392499	Metabolism of proteins
R-HSA-597592	Post-translational protein modification

MSigDB gene sets: 58 (showing top): GOMF_METALLOPEPTIDASE_ACTIVITY, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PEPTIDYL_GLUTAMIC_ACID_MODIFICATION, GOBP_C_TERMINAL_PROTEIN_AMINO_ACID_MODIFICATION, TGGAAA_NFAT_Q4_01, GOBP_PROTEOLYSIS, GOMF_CARBOXYPEPTIDASE_ACTIVITY, GOMF_METALLOEXOPEPTIDASE_ACTIVITY, GOMF_METALLOCARBOXYPEPTIDASE_ACTIVITY, GOMF_PEPTIDASE_ACTIVITY, GOMF_CYTOSKELETAL_PROTEIN_BINDING, ZHOU_INFLAMMATORY_RESPONSE_LIVE_UP, GOMF_EXOPEPTIDASE_ACTIVITY, REACTOME_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_PROTEIN_DEGLUTAMYLATION

GO Biological Process (3): proteolysis (GO:0006508), C-terminal protein deglutamylation (GO:0035609), protein side chain deglutamylation (GO:0035610)

GO Molecular Function (8): metallocarboxypeptidase activity (GO:0004181), zinc ion binding (GO:0008270), tubulin binding (GO:0015631), carboxypeptidase activity (GO:0004180), peptidase activity (GO:0008233), metallopeptidase activity (GO:0008237), hydrolase activity (GO:0016787), metal ion binding (GO:0046872)

GO Cellular Component (3): cytoplasm (GO:0005737), cytosol (GO:0005829), microtubule cytoskeleton (GO:0015630)

Reactome top-level categories

Rollup of top-2 pathways:

Category	Pathways
Post-translational protein modification	1
Metabolism of proteins	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
protein deglutamylation	2
cellular anatomical structure	2
protein metabolic process	1
C-terminal protein amino acid modification	1
carboxypeptidase activity	1
metalloexopeptidase activity	1
transition metal ion binding	1
cytoskeletal protein binding	1
exopeptidase activity	1
hydrolase activity	1
catalytic activity, acting on a protein	1
peptidase activity	1
catalytic activity	1
cation binding	1
intracellular anatomical structure	1
cytoplasm	1
cytoskeleton	1

Protein interactions and networks

STRING

434 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
AGBL1	LOXHD1	Q8IVV2	815
AGBL1	SLC4A11	Q8NBS3	808
AGBL1	KANK4	Q5T7N3	708
AGBL1	COL8A2	P25067	686
AGBL1	VWA1	Q6PCB0	479
AGBL1	M0QYG6	M0QYG6	447
AGBL1	ZEB1	P37275	420
AGBL1	TTLL2	Q9BWV7	416
AGBL1	LAMC1	P11047	398
AGBL1	TCF4	P15884	390
AGBL1	RIBC1	Q8N443	377
AGBL1	NFXL1	Q6ZNB6	372
AGBL1	PRR23C	Q6ZRP0	371
AGBL1	BORA	Q6PGQ7	371
AGBL1	CPXM2	Q8N436	363

IntAct

1 interactions, top by confidence:

A	B	Type	Score
	EIF3F	psi-mi:“MI:0914”(association)	0.350

BioGRID (7): AGBL1 (Affinity Capture-MS), AGBL1 (Affinity Capture-MS), AGBL1 (Proximity Label-MS), AGBL1 (Proximity Label-MS), AGBL1 (Proximity Label-MS), AGBL1 (Affinity Capture-MS), AGBL1 (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2JXT6, A0JMF6, A0JMK5, A2ALK8, A2BGG1, A6QLT4, A7MB43, G5ED68, O13819, O14830, P26045, P33402, P51432, Q09M05, Q13496, Q13613, Q15111, Q3USB7, Q4KWH5, Q4R6N0, Q4U2V3, Q52KU6, Q5EB32, Q5F452, Q5R6F6, Q5R9S3, Q5U581, Q62688, Q6AXQ4, Q6NU08, Q6TEL0, Q6XPS3, Q7TPM9, Q7ZXF1, Q8K394, Q8NCE2, Q8VE11, Q8VEL2, Q96EF0, Q96MI9

Diamond homologs: A6H8T7, A9JRL3, B2GV17, D2GXM8, E1B9D8, E1C3P4, O76373, Q09296, Q09LZ8, Q09M02, Q09M05, Q0P4M4, Q4R632, Q4U2V3, Q5U5Z8, Q5VU57, Q641K1, Q6DD21, Q8CDK2, Q8CDP0, Q8I2A6, Q8NDL9, Q8NEM8, Q96MI9, Q9UPW5, Q9VY99, Q58CX9, B0JZV4, Q68EI3, P30795, A0A096LPI5, Q8N976, Q96MD7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	202
Likely benign	29
Benign	11

Top pathogenic / likely-pathogenic (0)

SpliceAI

6481 predictions. Top by Δscore:

Variant	Effect	Δscore
15:86142064:GTTG:G	donor_gain	1.0000
15:86142067:GGT:G	donor_loss	1.0000
15:86142068:G:GG	donor_gain	1.0000
15:86142069:T:A	donor_loss	1.0000
15:86143697:A:AG	acceptor_gain	1.0000
15:86143698:G:GG	acceptor_gain	1.0000
15:86162939:G:GT	donor_gain	1.0000
15:86247670:GA:G	acceptor_gain	1.0000
15:86247670:GAGTC:G	acceptor_gain	1.0000
15:86247829:G:T	donor_gain	1.0000
15:86256850:CAG:C	acceptor_loss	1.0000
15:86256851:A:G	acceptor_loss	1.0000
15:86256852:G:C	acceptor_loss	1.0000
15:86256852:GAACT:G	acceptor_gain	1.0000
15:86257028:GTTG:G	donor_gain	1.0000
15:86257958:A:AG	acceptor_gain	1.0000
15:86257962:A:AG	acceptor_gain	1.0000
15:86257962:AGAG:A	acceptor_gain	1.0000
15:86257963:G:GG	acceptor_gain	1.0000
15:86257963:GA:G	acceptor_gain	1.0000
15:86257963:GAGG:G	acceptor_gain	1.0000
15:86258023:A:T	donor_gain	1.0000
15:86258027:TGG:T	donor_gain	1.0000
15:86258028:GGAA:G	donor_gain	1.0000
15:86258029:G:GT	donor_gain	1.0000
15:86258029:GAA:G	donor_gain	1.0000
15:86258032:G:GG	donor_gain	1.0000
15:86267069:GTGC:G	donor_gain	1.0000
15:86267073:GTGA:G	donor_gain	1.0000
15:86267075:GA:G	donor_gain	1.0000

AlphaMissense

7434 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
15:86522850:T:A	W866R	0.999
15:86522850:T:C	W866R	0.999
15:86397422:A:C	S811R	0.998
15:86397424:T:A	S811R	0.998
15:86397424:T:G	S811R	0.998
15:86546044:T:C	F910L	0.998
15:86546046:C:A	F910L	0.998
15:86546046:C:G	F910L	0.998
15:86554487:A:C	S982R	0.998
15:86554489:C:A	S982R	0.998
15:86554489:C:G	S982R	0.998
15:86554397:T:C	F952L	0.997
15:86554398:T:C	F952S	0.997
15:86554399:C:A	F952L	0.997
15:86554399:C:G	F952L	0.997
15:86270052:A:C	S658R	0.996
15:86270054:C:A	S658R	0.996
15:86270054:C:G	S658R	0.996
15:86554418:T:C	F959L	0.996
15:86554420:T:A	F959L	0.996
15:86554420:T:G	F959L	0.996
15:86554449:C:A	A969D	0.996
15:86554505:A:C	S988R	0.996
15:86554507:C:A	S988R	0.996
15:86554507:C:G	S988R	0.996
15:86271672:T:A	W681R	0.995
15:86271672:T:C	W681R	0.995
15:86522852:G:C	W866C	0.995
15:86522852:G:T	W866C	0.995
15:86546021:G:A	G902D	0.995

dbSNP variants (sampled 300 via entrez): RS1000003145 (15:86182702 G>A), RS1000004947 (15:86814110 A>G), RS1000005076 (15:86104298 G>A), RS1000006061 (15:86547545 T>C), RS1000009066 (15:86137871 T>A,C), RS1000010333 (15:86301599 G>A), RS1000010365 (15:86205979 G>A), RS1000012072 (15:86690832 C>A,G), RS1000015656 (15:86633087 G>A), RS1000018494 (15:86567317 T>C), RS1000018702 (15:86441522 T>A), RS1000024020 (15:86492726 A>G), RS1000026361 (15:86833177 T>C,G), RS1000028081 (15:86101416 G>A,T), RS1000030117 (15:86895166 TCTCTTTCCCCC>T)

Disease associations

OMIM: gene MIM:615496 | disease phenotypes: MIM:615523, MIM:136800

GenCC curated gene-disease

Disease	Classification	Inheritance
Fuchs’ endothelial dystrophy	Supportive	Autosomal dominant
corneal dystrophy, Fuchs endothelial, 8	Limited	Autosomal dominant

Mondo (2): corneal dystrophy, Fuchs endothelial, 8 (MONDO:0014228), Fuchs’ endothelial dystrophy (MONDO:0005321)

Orphanet (1): Fuchs endothelial corneal dystrophy (Orphanet:98974)

HPO phenotypes

13 total (13 of 13 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000572	Visual loss
HP:0000662	Nyctalopia
HP:0000969	Edema
HP:0001131	Corneal dystrophy
HP:0003581	Adult onset
HP:0007663	Reduced visual acuity
HP:0007957	Corneal opacity
HP:0011488	Abnormal corneal endothelium morphology
HP:0011490	Abnormal Descemet membrane morphology
HP:0011491	Reduced number of corneal endothelial cells
HP:0012038	Corneal guttata
HP:0030857	Eye movement-induced pain

GWAS associations

26 associations (top):

Study	Trait	p-value
GCST000164_4	Schizophrenia	2.000000e-06
GCST001019_1	Migraine	5.000000e-07
GCST001272_2	Cytomegalovirus antibody response	2.000000e-06
GCST001308_9	Response to anti-depressant treatment in major depressive disorder	4.000000e-07
GCST001574_1	Activated partial thromboplastin time	4.000000e-08
GCST001859_6	Thiazide-induced adverse metabolic effects in hypertensive patients	8.000000e-07
GCST001975_1	Psychosis (methamphetamine induced)	4.000000e-06
GCST002097_5	Coronary artery calcification	4.000000e-06
GCST002248_11	Fasting insulin (dietary factor interaction)	2.000000e-06
GCST002253_13	Homeostasis model assessment of insulin resistance (dietary factor interaction)	2.000000e-06
GCST002988_8	Ischemic stroke	2.000000e-07
GCST003659_10	Modified Stumvoll Insulin Sensitivity Index (BMI interaction)	1.000000e-07
GCST003771_6	Loneliness	7.000000e-06
GCST003772_18	Loneliness (linear analysis)	7.000000e-06
GCST005232_1	Neuroticism	6.000000e-08
GCST005411_6	Thrombin-activatable fibrinolysis inhibitor activation peptide	6.000000e-07
GCST006940_139	Neurociticism	4.000000e-08
GCST007006_15	Logical memory (delayed recall) in normal cognition	5.000000e-07
GCST007683_3	Triiodothyronine levels	7.000000e-07
GCST008522_3	Bitter alcoholic beverage consumption	3.000000e-08
GCST009202_8	Rostral middle frontal gyrus volume	3.000000e-07
GCST011359_11	Venous thromboembolism	9.000000e-11
GCST011742_33	Triglyceride levels in HIV infection	3.000000e-06
GCST012354_48	Anxiety	2.000000e-09
GCST012357_1	Acute lymphoblastic leukemia	3.000000e-07
GCST012359_1	Acute lymphoblastic leukemia (adult)	5.000000e-06

EFO canonical traits (13, from GWAS)

EFO ID	Trait name
EFO:0006323	antidepressant-induced visual impairment
EFO:0004530	triglyceride measurement
EFO:0004723	coronary artery calcification
EFO:0008111	diet measurement
EFO:0004501	HOMA-IR
EFO:0004340	body mass index
EFO:0004471	insulin sensitivity measurement
EFO:0007865	loneliness measurement
EFO:0007660	neuroticism measurement
EFO:0004874	memory performance
EFO:0008392	triiodothyronine measurement
EFO:0010092	bitter alcoholic beverage consumption measurement
EFO:0009863	anxiety measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D005642	Fuchs’ Endothelial Dystrophy	C11.204.236.438; C11.270.162.438; C16.320.290.162.410

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

12 total (human), top 12 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects cotreatment, decreases expression, decreases methylation, increases expression	6
methylmercuric chloride	decreases expression, affects cotreatment	3
trichostatin A	decreases expression, affects cotreatment	3
Vorinostat	affects cotreatment, decreases expression	2
Benzo(a)pyrene	affects methylation	2
bisphenol A	decreases methylation	1
sodium arsenite	decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Fulvestrant	decreases methylation	1
Silicon Dioxide	decreases expression	1
Cadmium Chloride	increases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00781027	PHASE4	COMPLETED	Fuchs’ Torsional Phaco Study
NCT03249337	PHASE4	RECRUITING	Glanatec(R) for Descemet Stripping in Fuch’s Endothelial Dystrophy
NCT05716945	PHASE4	RECRUITING	The OPTIMISE Study
NCT03248037	PHASE3	COMPLETED	Trial of Netarsudil for Prevention of Corticosteroid-induced Intraocular Pressure Elevation
NCT05275972	PHASE3	RECRUITING	Descemet Endothelial Thickness Comparison Trial II
NCT06048380	PHASE3	RECRUITING	The Effects of Ripasudil in Patients With FED Undergoing Femtosecond Laser Assisted Cataract Surgery
NCT02834260	PHASE2	COMPLETED	Immunosuppression During Penetrating Keratoplasty, Using a Subconjunctival Implant Releasing Dexamethasone : Tolerance and Safety Pilot Study
NCT03575130	PHASE2	UNKNOWN	Ripasudil 0.4% Eye Drops in Fuchs Endothelial Corneal Dystrophy
NCT03813056	PHASE2	UNKNOWN	Ripasudil for Enhanced Corneal Clearing Following Descemet Membrane Endothelial Keratoplasty in Fuchs’ Dystrophy
NCT04676737	PHASE2	COMPLETED	TTHX1114(NM141) in Combination With DWEK/DSO
NCT04191629	PHASE1	UNKNOWN	Phase 1 Study to Evaluate the Safety and Tolerability of EO1404 in the Treatment of Corneal Edema
NCT04319848	PHASE1	RECRUITING	Safety and Efficacy of Tissue Engineered Endothelial Keratoplasty
NCT05636579	PHASE1	RECRUITING	Study to Assess Safety and Tolerability of Multiple Doses of EO2002
NCT07325097	PHASE1	RECRUITING	PVEK Corneal Implant For Treatment of Corneal Edema
NCT03971357	PHASE2/PHASE3	TERMINATED	Trial of Netarsudil for Acceleration of Corneal Endothelial Restoration
NCT04018417	PHASE2/PHASE3	WITHDRAWN	Evaluation of Amphotericin B in Optisol-GS for Prevention of Post-Keratoplasty Fungal Infections.
NCT04051463	PHASE2/PHASE3	COMPLETED	Rhopressa for Corneal Edema Associated With Fuchs Dystrophy
NCT03275896	EARLY_PHASE1	UNKNOWN	Evaluation of the Efficacy of Descemet Membrane Transplantation for the Treatment of Fuchs’ Endothelial Dystrophy
NCT04057053	EARLY_PHASE1	COMPLETED	Netarsudil Use After Descemetorhexis Without Endothelial Keratoplasty
NCT04752020	EARLY_PHASE1	COMPLETED	Netarsudil Use After Descemtorhexis Without Endothelial Keratoplasty
NCT00624221	Not specified	COMPLETED	Study of Eye Bank Pre-cut Donor Grafts for Endothelial Keratoplasty
NCT01206127	Not specified	UNKNOWN	DSAEK- Postoperative Positioning and Transplant Dislocation
NCT01361282	Not specified	TERMINATED	Using the Optovue OCT to Select IOL Power
NCT01586234	Not specified	TERMINATED	OCT-guided DSAEK Graft Shaping and Smoothing
NCT01795001	Not specified	COMPLETED	The Molecular Pathogenesis of Late-onset Fuchs’ Endothelial Corneal Dystrophy
NCT02118922	Not specified	RECRUITING	A Study to Test the Diagnostic Potential of Brillouin Microscopy for Corneal Ectasia
NCT02332109	Not specified	COMPLETED	ODM 5 in the Treatment of Corneal Edematous Fuchs’ Endothelial Dystrophy
NCT02423161	Not specified	COMPLETED	PIONEER: Intraoperative and Perioperative OCT Study
NCT02423213	Not specified	RECRUITING	DISCOVER Study: Microscope-integrated Intraoperative OCT Study
NCT02470793	Not specified	COMPLETED	Technique And Results In Endothelial Keratoplasty
NCT02542644	Not specified	COMPLETED	Assessment of Corneal Graft Attachment in Patients With Fuchs Endothelial Corneal Dystrophy Following DMEK Using Ultra-high Resolution OCT
NCT02793310	Not specified	COMPLETED	DMEK Versus DSAEK Study
NCT02849808	Not specified	COMPLETED	Long Term Cornea Graft Survival Study
NCT02875145	Not specified	COMPLETED	Impact of Cataract Surgery on Keratoplasty Graft Survival
NCT03407755	Not specified	UNKNOWN	Air Versus SF6 for Descemet’s Membrane Endothelial Keratoplasty (DMEK)
NCT04072029	Not specified	COMPLETED	Risk Assessment for Progression to DMEK Following Cataract Surgery in Fuchs Endothelial Corneal Dystrophy
NCT04140422	Not specified	COMPLETED	Eye Drops for Early Morning-Associated Corneal Swelling of the Cornea
NCT04417959	Not specified	COMPLETED	A Comparison of Visual Functions and Side-effects After DSAEK or DMEK for Fuchs’ Endothelial Dystrophy
NCT04420429	Not specified	COMPLETED	The Effect Of Preoperative Parameters On Success After DMEK Surgery
NCT05134480	Not specified	COMPLETED	Impact of Donor Diabetes on DMEK Success and Endothelial Cell Loss