SLC9D1

Summary

SLC9D1 (solute carrier family 9 member D1, HGNC:20329) is a protein-coding gene on chromosome 13q34, encoding Solute carrier family 9 member D1 (Q6UWJ1). Probable Na(+):H(+) or K(+):H(+) antiporter.

This gene encodes a member of the monovalent cation:proton antiporter 2 (CPA2) family of transporter proteins. Members of this family typically couple the export of monovalent cations, such as potassium or sodium, to the import of protons across cellular membranes. Mutations in this gene have been identified in patients with a rare inherited vision defect, cornea guttata with anterior polar cataract.

Source: NCBI Gene 55002 — RefSeq curated summary.

At a glance

• Gene–disease (curated): Fuchs’ endothelial dystrophy (Limited, GenCC)
• GWAS associations: 8
• Clinical variants (ClinVar): 135 total
• MANE Select transcript: NM_017905

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:20329
Approved symbol	SLC9D1
Name	solute carrier family 9 member D1
Location	13q34
Locus type	gene with protein product
Status	Approved
Aliases	FLJ20623
Ensembl gene	ENSG00000150403
Ensembl biotype	protein_coding
OMIM	617134
Entrez	55002

Gene structure

Transcript identifiers

Ensembl transcripts: 33 — 29 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000375391, ENST00000434316, ENST00000460039, ENST00000462877, ENST00000465556, ENST00000473287, ENST00000474393, ENST00000491166, ENST00000619336, ENST00000620021, ENST00000622371, ENST00000909161, ENST00000909162, ENST00000909163, ENST00000909164, ENST00000909165, ENST00000909166, ENST00000909167, ENST00000909168, ENST00000909169, ENST00000909170, ENST00000909171, ENST00000909172, ENST00000909173, ENST00000909174, ENST00000909175, ENST00000928642, ENST00000928643, ENST00000955126, ENST00000955127, ENST00000955128, ENST00000955129, ENST00000955130

RefSeq mRNA: 7 — MANE Select: NM_017905 NM_001349741, NM_001349742, NM_001349743, NM_001349744, NM_001349745, NM_001349746, NM_017905

CCDS: CCDS86365, CCDS9537

Canonical transcript exons

ENST00000434316 — 13 exons

Exon	Start	End
ENSE00001191953	113539357	113539507
ENSE00001191995	113549425	113550229
ENSE00001311677	113534045	113534240
ENSE00001878727	113491021	113491273
ENSE00003581786	113548303	113548452
ENSE00003595632	113503496	113503588
ENSE00003633471	113547300	113547379
ENSE00003634706	113499958	113500149
ENSE00003724563	113498342	113498521
ENSE00003729450	113510238	113510424
ENSE00003729632	113520616	113520733
ENSE00003732306	113495502	113496025
ENSE00003751860	113501752	113501880

Expression profiles

Bgee: expression breadth ubiquitous, 269 present calls, max score 97.92.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.4476 / max 273.7724, expressed in 1805 samples.

FANTOM5 promoters (9 alternative TSS)

Promoter ID	TPM avg	Samples expressed
136226	22.2228	1798
136225	1.4700	850
136227	1.2596	781
136234	0.2718	76
136228	0.0835	24
136233	0.0623	10
136232	0.0331	10
207120	0.0260	4
136231	0.0184	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
stromal cell of endometrium	CL:0002255	97.92	gold quality
tibia	UBERON:0000979	95.75	gold quality
decidua	UBERON:0002450	95.52	gold quality
thoracic aorta	UBERON:0001515	95.47	gold quality
ascending aorta	UBERON:0001496	95.45	gold quality
descending thoracic aorta	UBERON:0002345	95.39	gold quality
aorta	UBERON:0000947	95.32	gold quality
popliteal artery	UBERON:0002250	95.26	gold quality
tibial artery	UBERON:0007610	95.25	gold quality
calcaneal tendon	UBERON:0003701	95.03	gold quality
palpebral conjunctiva	UBERON:0001812	94.98	gold quality
right hemisphere of cerebellum	UBERON:0014890	94.95	gold quality
cerebellar hemisphere	UBERON:0002245	94.94	gold quality
cerebellar cortex	UBERON:0002129	94.90	gold quality
right coronary artery	UBERON:0001625	94.81	gold quality
islet of Langerhans	UBERON:0000006	94.75	gold quality
cartilage tissue	UBERON:0002418	94.43	gold quality
bronchial epithelial cell	CL:0002328	94.31	gold quality
body of pancreas	UBERON:0001150	94.24	gold quality
secondary oocyte	CL:0000655	94.15	gold quality
cerebellar vermis	UBERON:0004720	93.90	gold quality
cerebellum	UBERON:0002037	93.74	gold quality
adrenal tissue	UBERON:0018303	93.72	gold quality
synovial joint	UBERON:0002217	93.69	gold quality
left coronary artery	UBERON:0001626	93.64	gold quality
body of uterus	UBERON:0009853	93.54	gold quality
left uterine tube	UBERON:0001303	93.35	gold quality
pancreas	UBERON:0001264	93.21	gold quality
germinal epithelium of ovary	UBERON:0001304	93.18	gold quality
minor salivary gland	UBERON:0001830	93.16	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	5.78
E-MTAB-7303	no	749.71

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

45 targeting SLC9D1, 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-4673	100.00	66.64	1490
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-5696	99.98	72.36	4487
HSA-MIR-4645-5P	99.98	65.81	1284
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-548AA	99.96	70.64	3753
HSA-MIR-548AP-3P	99.96	70.64	3753
HSA-MIR-548T-3P	99.96	70.64	3753
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-7-1-3P	99.91	71.53	4384
HSA-MIR-7-2-3P	99.91	71.40	4394
HSA-MIR-3686	99.90	70.53	2432
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-4668-5P	99.79	70.58	3782
HSA-MIR-6885-3P	99.75	70.36	3187
HSA-MIR-33A-3P	99.70	70.27	3362
HSA-MIR-4502	99.65	66.99	1021
HSA-MIR-4761-5P	99.51	66.69	804
HSA-MIR-578	99.46	68.36	1787
HSA-MIR-513A-3P	99.39	70.63	3620
HSA-MIR-513C-3P	99.39	70.63	3620
HSA-MIR-6507-5P	99.36	70.46	2524

Literature-anchored findings (GeneRIF, showing 3)

• This study reveals, for the first time, that mutations in TMCO3 are associated with cornea guttata and anterior polar cataract, warranting further investigation into the pathogenesis of this disorder. (PMID:27484837)
• TMCO3, a Putative K[+] :Proton Antiporter at the Golgi Apparatus, Is Important for Longitudinal Growth in Mice and Humans. (PMID:37554015)
• M2 macrophage-derived exosomal circTMCO3 acts through miR-515-5p and ITGA8 to enhance malignancy in ovarian cancer. (PMID:38755265)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	tmco3	ENSDARG00000075108
mus_musculus	Tmco3	ENSMUSG00000038497
rattus_norvegicus	Tmco3	ENSRNOG00000046973

Protein

Protein identifiers

Solute carrier family 9 member D1 — Q6UWJ1 (reviewed: Q6UWJ1)

Alternative names: Putative LAG1-interacting protein, Transmembrane and coiled-coil domain-containing protein 3

All UniProt accessions (7): Q6UWJ1, A0A024RE09, A0A087WUP6, A0A087WVR2, A0A087WXI4, A0A087WZ28, A0A087X2E0

UniProt curated annotations — full annotation on UniProt →

Function. Probable Na(+):H(+) or K(+):H(+) antiporter. Upon IGF1-dependent phosphorylation, facilitates the membrane translocation and activation of AKT1.

Subunit / interactions. Interacts (when phosphorylated at Ser-85) with AKT1; the interaction facilitates the membrane translocation and activation of AKT1.

Subcellular location. Golgi apparatus membrane. Cell membrane.

Tissue specificity. Expressed in the cornea, lens capsule and choroid-retinal pigment epithelium (at protein level).

Post-translational modifications. Phosphorylation at Ser-85 induced by IGF1 facilitates the membrane translocation and activation of AKT1.

Disease relevance. Defects in this gene seem to be linked to short stature and cornea guttata and anterior polar cataract.

Similarity. Belongs to the monovalent cation:proton antiporter 2 (CPA2) transporter (TC 2.A.37) family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q6UWJ1-1	1	yes
Q6UWJ1-2	2
Q6UWJ1-3	3

RefSeq proteins (7): NP_001336670, NP_001336671, NP_001336672, NP_001336673, NP_001336674, NP_001336675, NP_060375* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR006153	Cation/H_exchanger_TM	Domain
IPR038770	Na+/solute_symporter_sf	Homologous_superfamily
IPR045158	KEA4/5/6-like	Family

Pfam: PF00999

UniProt features (29 total): transmembrane region 10, splice variant 4, sequence variant 4, sequence conflict 4, glycosylation site 2, signal peptide 1, chain 1, region of interest 1, coiled-coil region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6UWJ1-F1	75.64	0.21

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 (1): 85

Glycosylation sites (2): 206, 230

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 144 (showing top): GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_UP, GOBP_POTASSIUM_ION_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GTGCCTT_MIR506, FOSTER_TOLERANT_MACROPHAGE_UP, chr13q34, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, GOMF_PROTON_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, GOBP_TRANSMEMBRANE_TRANSPORT, PODAR_RESPONSE_TO_ADAPHOSTIN_UP, NUYTTEN_EZH2_TARGETS_DN, TCCCRNNRTGC_UNKNOWN, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOMF_METAL_ION_TRANSMEMBRANE_TRANSPORTER_ACTIVITY, NUYTTEN_NIPP1_TARGETS_DN

GO Biological Process (5): monoatomic ion transport (GO:0006811), monoatomic cation transport (GO:0006812), transmembrane transport (GO:0055085), potassium ion transmembrane transport (GO:0071805), proton transmembrane transport (GO:1902600)

GO Molecular Function (2): potassium:proton antiporter activity (GO:0015386), antiporter activity (GO:0015297)

GO Cellular Component (1): membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transport	2
monoatomic cation transmembrane transport	2
monoatomic ion transport	1
cellular process	1
potassium ion transport	1
solute:potassium antiporter activity	1
metal cation:proton antiporter activity	1
secondary active transmembrane transporter activity	1
cellular anatomical structure	1

Protein interactions and networks

STRING

1364 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
SLC9D1	GRTP1	Q5TC63	616
SLC9D1	ADPRHL1	Q8NDY3	532
SLC9D1	DCUN1D2	Q6PH85	479
SLC9D1	PCID2	Q5JVF3	472
SLC9D1	TYSND1	Q2T9J0	437
SLC9D1	MRI1	Q9BV20	430
SLC9D1	ZNF705A	Q6ZN79	417
SLC9D1	CACNG1	Q06432	385
SLC9D1	TMCO6	Q96DC7	380
SLC9D1	SPINDOC	Q9BUA3	370
SLC9D1	C20orf96	Q9NUD7	368
SLC9D1	WDR89	Q96FK6	365
SLC9D1	TREH	O43280	353
SLC9D1	C9K0I3	C9K0I3	353
SLC9D1	YIPF6	Q96EC8	352

IntAct

34 interactions, top by confidence:

A	B	Type	Score
NIPAL1	ESYT2	psi-mi:“MI:0914”(association)	0.640
EGFR	TMCO3	psi-mi:“MI:0915”(physical association)	0.550
TMCO3	EGFR	psi-mi:“MI:0915”(physical association)	0.550
CLCC1	PLSCR1	psi-mi:“MI:0914”(association)	0.530
CTLA4	B4GALT5	psi-mi:“MI:0914”(association)	0.530
SLC7A1	STXBP3	psi-mi:“MI:0914”(association)	0.530
TMCO3	TSHR	psi-mi:“MI:0915”(physical association)	0.370
TMCO3	HSPB1	psi-mi:“MI:0915”(physical association)	0.370
	ESYT2	psi-mi:“MI:0914”(association)	0.350
E5	ESYT2	psi-mi:“MI:0914”(association)	0.350
TMCO3	POTEF	psi-mi:“MI:0914”(association)	0.350
FNDC5	CAPN15	psi-mi:“MI:0914”(association)	0.350
FFAR1	SLC12A8	psi-mi:“MI:0914”(association)	0.350
TSPAN8	POTEF	psi-mi:“MI:0914”(association)	0.350
TPST2	NDC80	psi-mi:“MI:0914”(association)	0.350
FPR2	SCAMP3	psi-mi:“MI:0914”(association)	0.350
TMCO3	CTSV	psi-mi:“MI:0914”(association)	0.350
KLHL22	TRAV18	psi-mi:“MI:0914”(association)	0.350
CLGN	TMEM131L	psi-mi:“MI:0914”(association)	0.350
CXCR3	RIMOC1	psi-mi:“MI:0914”(association)	0.350
CXCR4	ESYT2	psi-mi:“MI:0914”(association)	0.350
GPR17	C1QTNF9B	psi-mi:“MI:0914”(association)	0.350
HTR1E	ESYT2	psi-mi:“MI:0914”(association)	0.350
MIS18A	CCDC85C	psi-mi:“MI:0914”(association)	0.350
SAAL1	TMEM223	psi-mi:“MI:0914”(association)	0.350
SCN3B	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC2A12	NBAS	psi-mi:“MI:0914”(association)	0.350
SLC15A3	GXYLT2	psi-mi:“MI:0914”(association)	0.350
SLC16A8	C15orf61	psi-mi:“MI:0914”(association)	0.350

BioGRID (93): TMCO3 (Two-hybrid), TMCO3 (PCA), TAP2 (Affinity Capture-MS), TMCO3 (Affinity Capture-MS), COG4 (Affinity Capture-MS), IFT57 (Affinity Capture-MS), HEMK1 (Affinity Capture-MS), SLC25A17 (Affinity Capture-MS), TYK2 (Affinity Capture-MS), PSME2 (Affinity Capture-MS), ATG9A (Affinity Capture-MS), PXMP2 (Affinity Capture-MS), PIGQ (Affinity Capture-MS), SQLE (Affinity Capture-MS), GUF1 (Affinity Capture-MS)

ESM2 similar proteins: A2AWR3, A6QL92, A6QPI1, B9FMX4, D3ZWZ9, F4IKF6, O35458, O35633, P58355, Q12791, Q28CE7, Q4LE88, Q4V3B8, Q569T7, Q5M8T2, Q5R4D7, Q5R6J3, Q5R831, Q5R9A7, Q5RD30, Q5ZLF4, Q62976, Q6DCG9, Q6DG36, Q6DIV6, Q6P499, Q6PF45, Q6UWJ1, Q7Z3F1, Q8BGF8, Q8BGN5, Q8BH01, Q8BUV8, Q8CA03, Q8R314, Q8R4H9, Q8RWF4, Q8RWH8, Q8TAD4, Q8WV83

Diamond homologs: A1AGN6, A4TGX5, A4WFE4, A6TEY9, A7ME23, A7ZSM6, A8A5F8, A8AQP0, A9MN27, A9MT17, A9R473, B1IPB4, B1JIU4, B1LHF1, B1X6K0, B2U3F5, B2VK47, B4SUV7, B4TKN2, B4TXF9, B5BH03, B5F8G9, B5FJN1, B5R2A8, B5X0N6, B5XN76, B6I2Q9, B7L4M7, B7LS57, B7M1Q2, B7MCW6, B7N1D2, B7NDV9, B7UK61, C0Q0D3, C4ZUK6, C6DG97, O65272, P39830, P44933

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	96
Likely benign	10
Benign	2

Top pathogenic / likely-pathogenic (0)

SpliceAI

3629 predictions. Top by Δscore:

Variant	Effect	Δscore
13:113495500:A:AG	acceptor_gain	1.0000
13:113495501:G:GC	acceptor_gain	1.0000
13:113495501:GCT:G	acceptor_gain	1.0000
13:113495501:GCTGA:G	acceptor_gain	1.0000
13:113496022:AAAGG:A	donor_loss	1.0000
13:113496023:AAGG:A	donor_loss	1.0000
13:113496024:AGGT:A	donor_loss	1.0000
13:113496026:G:A	donor_loss	1.0000
13:113496027:T:A	donor_loss	1.0000
13:113498330:A:AG	acceptor_gain	1.0000
13:113498331:C:G	acceptor_gain	1.0000
13:113498332:A:AG	acceptor_gain	1.0000
13:113498332:AAAT:A	acceptor_gain	1.0000
13:113498333:A:G	acceptor_gain	1.0000
13:113498335:T:G	acceptor_gain	1.0000
13:113498339:TA:T	acceptor_loss	1.0000
13:113498341:GGAA:G	acceptor_gain	1.0000
13:113498483:G:GT	donor_gain	1.0000
13:113498495:G:GT	donor_gain	1.0000
13:113498518:ATCA:A	donor_gain	1.0000
13:113498519:TCA:T	donor_gain	1.0000
13:113498522:G:GG	donor_gain	1.0000
13:113500146:AAAG:A	donor_loss	1.0000
13:113500147:AAG:A	donor_loss	1.0000
13:113500148:AGGTA:A	donor_gain	1.0000
13:113500149:GG:G	donor_loss	1.0000
13:113500149:GGTAG:G	donor_gain	1.0000
13:113500150:GTA:G	donor_gain	1.0000
13:113503494:A:AG	acceptor_gain	1.0000
13:113503495:G:GA	acceptor_gain	1.0000

AlphaMissense

4407 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
13:113548393:A:C	S621R	0.999
13:113548395:C:A	S621R	0.999
13:113548395:C:G	S621R	0.999
13:113549443:A:C	S647R	0.999
13:113549445:T:A	S647R	0.999
13:113549445:T:G	S647R	0.999
13:113549458:A:C	S652R	0.999
13:113549460:C:A	S652R	0.999
13:113549460:C:G	S652R	0.999
13:113495889:T:C	L103P	0.998
13:113510370:A:C	S391R	0.998
13:113510372:C:A	S391R	0.998
13:113510372:C:G	S391R	0.998
13:113548394:G:T	S621I	0.998
13:113498468:G:C	A191P	0.997
13:113501828:G:A	G298D	0.997
13:113501843:G:A	G303D	0.997
13:113510355:T:C	C386R	0.997
13:113539507:G:A	G564R	0.997
13:113539507:G:C	G564R	0.997
13:113547300:G:A	G564E	0.997
13:113496017:G:C	A146P	0.996
13:113501855:G:A	G307E	0.996
13:113539393:T:C	C526R	0.996
13:113548382:T:C	L617P	0.996
13:113548385:C:A	A618D	0.996
13:113501797:T:C	C288R	0.995
13:113501842:G:C	G303R	0.995
13:113501854:G:A	G307R	0.995
13:113501854:G:C	G307R	0.995

dbSNP variants (sampled 300 via entrez): RS1000018980 (13:113539214 A>G), RS1000020608 (13:113511891 A>C), RS1000051499 (13:113538967 T>C), RS1000097046 (13:113501498 C>T), RS1000150993 (13:113501335 A>C), RS1000277828 (13:113534476 T>C), RS1000297709 (13:113520163 C>T), RS1000340230 (13:113522888 C>G), RS1000402464 (13:113490815 C>A,T), RS1000413911 (13:113490610 T>C), RS1000534909 (13:113543945 G>A), RS1000608133 (13:113518057 A>G), RS1000843184 (13:113533649 G>A), RS1000879719 (13:113533348 G>A), RS1000932988 (13:113528540 C>G,T)

Disease associations

OMIM: gene MIM:617134 | disease phenotypes:

GenCC curated gene-disease

Disease	Classification	Inheritance
Fuchs’ endothelial dystrophy	Limited	Autosomal dominant

Mondo (1): Fuchs’ endothelial dystrophy (MONDO:0005321)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

Study	Trait	p-value
GCST003125_10	Influenza A (H1N1) infection	5.000000e-08
GCST010796_5456	Electrocardiogram morphology (amplitude at temporal datapoints)	2.000000e-08
GCST010796_5457	Electrocardiogram morphology (amplitude at temporal datapoints)	4.000000e-08
GCST012033_15	Sleep (1/3-day periodicity)	8.000000e-09
GCST90002390_199	Mean corpuscular hemoglobin	2.000000e-11
GCST90002396_557	Mean reticulocyte volume	6.000000e-09
GCST90002399_349	Neutrophil percentage of white cells	4.000000e-13
GCST90002407_615	White blood cell count	3.000000e-21

EFO canonical traits (5, from GWAS)

EFO ID	Trait name
EFO:1001488	influenza A (H1N1)
EFO:0004327	electrocardiography
EFO:0004527	mean corpuscular hemoglobin
EFO:0010701	mean reticulocyte volume
EFO:0007990	neutrophil percentage of leukocytes

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

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

Chemical	Actions (top 5)	PubMed papers
Cyclosporine	increases expression	4
sodium arsenite	affects cotreatment, decreases expression, increases abundance, increases expression	2
Phenylmercuric Acetate	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	affects expression, increases expression	2
TAK-243	increases sumoylation	1
methylmercuric chloride	increases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	affects expression	1
manganese chloride	decreases expression, increases abundance, affects cotreatment	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
K 7174	increases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, increases expression	1
ICG 001	increases expression	1
dorsomorphin	affects cotreatment, increases expression	1
Resveratrol	affects cotreatment, increases expression	1
Temozolomide	decreases expression	1
Zoledronic Acid	increases expression	1
Fulvestrant	increases methylation	1
Acetaminophen	decreases expression	1
Air Pollutants	affects expression, increases abundance	1
Arsenic	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases expression	1
Calcitriol	increases expression, affects cotreatment	1
Cisplatin	decreases expression	1
Manganese	affects cotreatment, decreases expression, increases abundance	1
Ozone	increases abundance, affects expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	decreases expression	1
Testosterone	affects cotreatment, 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