RAX2

Summary

RAX2 (retina and anterior neural fold homeobox 2, HGNC:18286) is a protein-coding gene on chromosome 19p13.3, encoding Retina and anterior neural fold homeobox protein 2 (Q96IS3). May be involved in modulating the expression of photoreceptor specific genes.

This gene encodes a homeodomain-containing protein that plays a role in eye development. Mutation of this gene causes age-related macular degeneration type 6, an eye disorder resulting in accumulations of protein and lipid beneath the retinal pigment epithelium and within the Bruch’s membrane. Defects in this gene can also cause cone-rod dystrophy type 11, a disease characterized by the initial degeneration of cone photoreceptor cells and resulting in loss of color vision and visual acuity, followed by the degeneration of rod photoreceptor cells, which progresses to night blindness and the loss of peripheral vision. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 84839 — RefSeq curated summary.

At a glance

• Gene–disease (curated): retinitis pigmentosa (Definitive, GenCC) — +3 more curated relationships
• GWAS associations: 1
• Clinical variants (ClinVar): 291 total — 9 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 29
• MANE Select transcript: NM_001319074

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:18286
Approved symbol	RAX2
Name	retina and anterior neural fold homeobox 2
Location	19p13.3
Locus type	gene with protein product
Status	Approved
Aliases	MGC15631, ARMD6, CORD11
Ensembl gene	ENSG00000173976
Ensembl biotype	protein_coding
OMIM	610362
Entrez	84839

Gene structure

Transcript identifiers

Ensembl transcripts: 2 — 2 protein_coding

ENST00000555633, ENST00000555978

RefSeq mRNA: 2 — MANE Select: NM_001319074 NM_001319074, NM_032753

CCDS: CCDS12112

Canonical transcript exons

ENST00000555633 — 3 exons

Exon	Start	End
ENSE00002507459	3771527	3772010
ENSE00002515514	3772163	3772228
ENSE00003899329	3769089	3770959

Expression profiles

Bgee: expression breadth broad, 39 present calls, max score 94.64.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4695 / max 211.4790, expressed in 13 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
178333	0.3679	12
178335	0.0712	8
178334	0.0304	7

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	94.64	silver quality
buccal mucosa cell	CL:0002336	91.98	gold quality
vena cava	UBERON:0004087	84.42	silver quality
myocardium	UBERON:0002349	82.22	silver quality
cerebellar vermis	UBERON:0004720	78.70	silver quality
skeletal muscle tissue of biceps brachii	UBERON:0004502	78.56	silver quality
nasal cavity epithelium	UBERON:0005384	76.34	gold quality
cartilage tissue	UBERON:0002418	75.86	silver quality
deltoid	UBERON:0001476	75.34	silver quality
sperm	CL:0000019	75.32	gold quality
medial globus pallidus	UBERON:0002477	74.98	gold quality
globus pallidus	UBERON:0001875	74.65	gold quality
superficial temporal artery	UBERON:0001614	74.00	gold quality
lateral globus pallidus	UBERON:0002476	73.84	gold quality
oral cavity	UBERON:0000167	73.61	gold quality
seminal vesicle	UBERON:0000998	73.08	silver quality
lateral nuclear group of thalamus	UBERON:0002736	72.75	silver quality
oocyte	CL:0000023	72.63	silver quality
pharyngeal mucosa	UBERON:0000355	72.16	gold quality
pericardium	UBERON:0002407	72.02	silver quality
secondary oocyte	CL:0000655	71.94	silver quality
trachea	UBERON:0003126	71.80	gold quality
subthalamic nucleus	UBERON:0001906	71.65	gold quality
quadriceps femoris	UBERON:0001377	71.48	gold quality
vastus lateralis	UBERON:0001379	71.45	gold quality
pylorus	UBERON:0001166	71.42	gold quality
inferior vagus X ganglion	UBERON:0005363	71.34	gold quality
saphenous vein	UBERON:0007318	71.33	gold quality
superior surface of tongue	UBERON:0007371	71.02	gold quality
body of tongue	UBERON:0011876	70.98	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7316	yes	42.58
E-ANND-3	no	1.73

Regulation

Is transcription factor: yes

JASPAR motifs

Motif	Name	Family
MA0717.1	RAX2	Paired-related HD factors
MA0717.2	RAX2	Paired-related HD factors

JASPAR matrix evidence (PMIDs): PMID:18585360

miRNA regulators (miRDB)

32 targeting RAX2, 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-6825-5P	99.96	69.81	3431
HSA-MIR-4760-5P	99.80	69.88	1619
HSA-MIR-378G	99.71	64.90	1106
HSA-MIR-6892-3P	99.68	66.40	1178
HSA-MIR-4437	99.52	65.29	1266
HSA-MIR-642A-5P	99.51	65.10	1152
HSA-MIR-3191-3P	99.45	63.94	356
HSA-MIR-4685-5P	99.25	65.99	1563
HSA-MIR-6837-5P	99.25	65.47	1632
HSA-MIR-7151-3P	99.04	69.72	2370
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-1294	98.91	69.26	1030
HSA-MIR-9986	98.91	69.28	1024
HSA-MIR-367-5P	98.84	67.18	902
HSA-MIR-3194-3P	98.83	66.22	1167
HSA-MIR-619-5P	98.57	64.97	1988
HSA-MIR-5187-5P	98.54	67.94	952
HSA-MIR-5008-5P	98.42	65.87	1019
HSA-MIR-4733-3P	98.35	65.20	994
HSA-MIR-6810-5P	98.29	66.21	975
HSA-MIR-4450	98.26	68.35	725
HSA-MIR-6765-3P	97.83	64.59	1165
HSA-MIR-4640-5P	97.42	66.33	1543
HSA-MIR-3183	97.40	65.68	978
HSA-MIR-4726-5P	97.24	65.67	1299
HSA-MIR-939-5P	97.10	65.80	1579
HSA-MIR-3192-5P	96.98	65.76	1926
HSA-MIR-1229-5P	94.57	65.78	487
HSA-MIR-10396A-3P	93.99	62.06	94
HSA-MIR-10396B-3P	93.99	62.06	94

Literature-anchored findings (GeneRIF, showing 1)

• A frameshift heterozygous mutation in RAX2 inherited in an autosomal dominant fashion was associated with mixed cone and rod dysfunction. (PMID:25789692)

Cross-species orthologs

0 orthologs

Paralogs (50): ARX (ENSG00000004848), PAX6 (ENSG00000007372), PAX7 (ENSG00000009709), ALX4 (ENSG00000052850), GSC2 (ENSG00000063515), PITX1 (ENSG00000069011), PAX2 (ENSG00000075891), RHOXF1 (ENSG00000101883), CRX (ENSG00000105392), EVX1 (ENSG00000106038), PAX4 (ENSG00000106331), NOBOX (ENSG00000106410), PITX3 (ENSG00000107859), PHOX2B (ENSG00000109132), OTX1 (ENSG00000115507), PRRX1 (ENSG00000116132), VSX2 (ENSG00000119614), ESX1 (ENSG00000123576), PAX8 (ENSG00000125618), PAX1 (ENSG00000125813), RHOXF2 (ENSG00000131721), GSC (ENSG00000133937), RAX (ENSG00000134438), PAX3 (ENSG00000135903), ALX3 (ENSG00000156150), HESX1 (ENSG00000163666), PITX2 (ENSG00000164093), UNCX (ENSG00000164853), PHOX2A (ENSG00000165462), OTX2 (ENSG00000165588), DRGX (ENSG00000165606), PRRX2 (ENSG00000167157), SHOX2 (ENSG00000168779), OTP (ENSG00000171540), EVX2 (ENSG00000174279), PROP1 (ENSG00000175325), ISX (ENSG00000175329), ALX1 (ENSG00000180318), MIXL1 (ENSG00000185155), SHOX (ENSG00000185960)

Protein

Protein identifiers

Retina and anterior neural fold homeobox protein 2 — Q96IS3 (reviewed: Q96IS3)

Alternative names: Q50-type retinal homeobox protein, Retina and anterior neural fold homeobox-like protein 1

All UniProt accessions (1): Q96IS3

UniProt curated annotations — full annotation on UniProt →

Function. May be involved in modulating the expression of photoreceptor specific genes. Binds to the Ret-1 and Bat-1 element within the rhodopsin promoter.

Subunit / interactions. Interacts with CRX.

Subcellular location. Nucleus.

Disease relevance. Macular degeneration, age-related, 6 (ARMD6) [MIM:613757] A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane. Disease susceptibility is associated with variants affecting the gene represented in this entry. Cone-rod dystrophy 11 (CORD11) [MIM:610381] An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors. The disease may be caused by variants affecting the gene represented in this entry. Retinitis pigmentosa 95 (RP95) [MIM:620102] A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP95 is an autosomal recessive form characterized by pale optic disks, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. The Homeobox transactivates the Ret-1 element in the presence of CRX and NRL.

RefSeq proteins (2): NP_001306003, NP_116142 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001356	HD	Domain
IPR009057	Homeodomain-like_sf	Homologous_superfamily
IPR017970	Homeobox_CS	Conserved_site
IPR043562	RAX/RAX2	Family

Pfam: PF00046

UniProt features (9 total): sequence variant 5, chain 1, DNA-binding region 1, region of interest 1, compositionally biased region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q96IS3-F1	71.72	0.33

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 79 (showing top): GOBP_SENSORY_PERCEPTION_OF_LIGHT_STIMULUS, MODULE_301, GOBP_SENSORY_PERCEPTION, MODULE_188, chr19p13, BHATI_G2M_ARREST_BY_2METHOXYESTRADIOL_UP, GOMF_SEQUENCE_SPECIFIC_DNA_BINDING, GOBP_POSITIVE_REGULATION_OF_TRANSCRIPTION_BY_RNA_POLYMERASE_II, GOMF_DNA_BINDING_TRANSCRIPTION_ACTIVATOR_ACTIVITY, ZWANG_TRANSIENTLY_UP_BY_2ND_EGF_PULSE_ONLY, GOMF_TRANSCRIPTION_REGULATOR_ACTIVITY, ZNF664_TARGET_GENES, MIR4450, GSE13485_CTRL_VS_DAY7_YF17D_VACCINE_PBMC_UP, HP_ABNORMAL_RETINAL_MORPHOLOGY

GO Biological Process (4): regulation of transcription by RNA polymerase II (GO:0006357), visual perception (GO:0007601), positive regulation of transcription by RNA polymerase II (GO:0045944), regulation of DNA-templated transcription (GO:0006355)

GO Molecular Function (4): RNA polymerase II cis-regulatory region sequence-specific DNA binding (GO:0000978), DNA-binding transcription factor activity, RNA polymerase II-specific (GO:0000981), DNA-binding transcription activator activity, RNA polymerase II-specific (GO:0001228), DNA binding (GO:0003677)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
RNA polymerase II transcription regulatory region sequence-specific DNA binding	3
transcription by RNA polymerase II	2
regulation of transcription by RNA polymerase II	2
regulation of DNA-templated transcription	1
sensory perception of light stimulus	1
positive regulation of DNA-templated transcription	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
cis-regulatory region sequence-specific DNA binding	1
chromatin	1
DNA-binding transcription factor activity	1
DNA-binding transcription factor activity, RNA polymerase II-specific	1
DNA-binding transcription activator activity	1
positive regulation of transcription by RNA polymerase II	1
nucleic acid binding	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

752 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
RAX2	PITPNM3	Q9BZ71	812
RAX2	GUCY2D	Q02846	774
RAX2	ABCA4	P78363	768
RAX2	AIPL1	Q9NZN9	738
RAX2	CDHR1	Q96JP9	737
RAX2	UNC119	Q13432	714
RAX2	RPGRIP1	Q96KN7	712
RAX2	SEMA4A	Q9H3S1	693
RAX2	RIMS1	Q86UR5	674
RAX2	NRL	P54845	651
RAX2	HMCN1	Q96RW7	632
RAX2	ADAM9	Q13443	613
RAX2	CFAP418	Q96NL8	571
RAX2	C2	P06681	549
RAX2	FBLN5	Q9UBX5	544

IntAct

2 interactions, top by confidence:

A	B	Type	Score
CRX	RAX2	psi-mi:“MI:0915”(physical association)	0.400

ESM2 similar proteins: A1YEV8, A1YF08, A1YG25, A1YG85, A2RU54, A2T711, A2T756, A8MTQ0, O14813, O15522, O35160, O35602, O43763, O70218, P28360, P42580, P43687, P50223, P52945, P52946, P52947, P70118, P70354, P81062, Q06348, Q2VL79, Q2VL84, Q2VL85, Q2VL87, Q2VL88, Q61663, Q62066, Q62782, Q6XYB7, Q7YRX0, Q96IS3, Q99811, Q9DED6, Q9ER42, Q9GK08

Diamond homologs: A1A546, A1YEV8, A1YG25, A2T711, A6NJT0, A6NNA5, A6YP92, G5EC89, G5EDS1, L8E946, O08934, O09113, O14813, O15266, O18381, O35085, O35137, O35602, O35690, O35750, O42115, O42201, O42250, O42356, O42357, O42358, O42477, O42567, O60902, O70137, O73917, O95076, O97039, P0DMV5, P23759, P23760, P24610, P26367, P26630, P29506

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	9
Likely pathogenic	1
Uncertain significance	165
Likely benign	73
Benign	19

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
1241	NM_001319074.4(RAX2):c.409G>C (p.Gly137Arg)	Pathogenic
1712266	NC_000019.10:g.3771339_3774300del	Pathogenic
1712267	NM_001319074.4(RAX2):c.145T>C (p.Ser49Pro)	Pathogenic
1952391	NM_001319074.4(RAX2):c.162_163del (p.Tyr55fs)	Pathogenic
3236193	NM_001319074.4(RAX2):c.443dup (p.His149fs)	Pathogenic
3242722	NC_000019.9:g.(?3771505)(3771740_?)del	Pathogenic
3729121	NM_001319074.4(RAX2):c.92_95dup (p.Thr33fs)	Pathogenic
4779831	NM_001319074.4(RAX2):c.1A>G (p.Met1Val)	Pathogenic
970393	NM_001319074.4(RAX2):c.182_216+254del	Pathogenic
834260	NM_001319074.4(RAX2):c.155C>G (p.Pro52Arg)	Likely pathogenic

SpliceAI

346 predictions. Top by Δscore:

Variant	Effect	Δscore
19:3770967:G:GC	acceptor_gain	1.0000
19:3771521:CCTCA:C	donor_loss	1.0000
19:3771523:TCA:T	donor_loss	1.0000
19:3771524:CAC:C	donor_loss	1.0000
19:3771525:AC:A	donor_loss	1.0000
19:3770955:CACAC:C	acceptor_gain	0.9900
19:3770957:CAC:C	acceptor_gain	0.9900
19:3770960:CTGGA:C	acceptor_loss	0.9900
19:3770967:G:C	acceptor_gain	0.9900
19:3770970:C:CT	acceptor_gain	0.9900
19:3770971:G:T	acceptor_gain	0.9900
19:3771573:CGG:C	donor_gain	0.9900
19:3770956:ACAC:A	acceptor_gain	0.9800
19:3770957:CACC:C	acceptor_gain	0.9800
19:3770960:C:CC	acceptor_gain	0.9800
19:3772161:ACCG:A	donor_gain	0.9800
19:3772162:CCGC:C	donor_gain	0.9800
19:3770958:AC:A	acceptor_gain	0.9700
19:3770958:ACCTG:A	acceptor_gain	0.9700
19:3770959:CC:C	acceptor_gain	0.9700
19:3772155:GCACT:G	donor_loss	0.9700
19:3772156:CACT:C	donor_loss	0.9700
19:3772157:AC:A	donor_loss	0.9700
19:3772158:CT:C	donor_loss	0.9700
19:3772159:TCACC:T	donor_loss	0.9700
19:3772160:CAC:C	donor_loss	0.9700
19:3772161:A:AC	donor_gain	0.9700
19:3772161:ACCGC:A	donor_gain	0.9700
19:3772162:C:CC	donor_gain	0.9700
19:3772162:CCG:C	donor_gain	0.9700

AlphaMissense

1153 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
19:3770946:T:C	N77S	1.000
19:3770947:T:C	N77D	1.000
19:3770951:G:C	F75L	1.000
19:3770951:G:T	F75L	1.000
19:3770952:A:G	F75S	1.000
19:3770953:A:G	F75L	1.000
19:3771605:G:C	F46L	1.000
19:3771605:G:T	F46L	1.000
19:3771607:A:G	F46L	1.000
19:3771618:A:G	L42P	1.000
19:3771641:G:C	F34L	1.000
19:3771641:G:T	F34L	1.000
19:3771642:A:C	F34C	1.000
19:3771642:A:G	F34S	1.000
19:3771643:A:G	F34L	1.000
19:3770933:C:A	K81N	0.999
19:3770933:C:G	K81N	0.999
19:3770943:C:G	R78P	0.999
19:3770944:G:T	R78S	0.999
19:3770945:G:C	N77K	0.999
19:3770945:G:T	N77K	0.999
19:3770946:T:A	N77I	0.999
19:3770946:T:G	N77T	0.999
19:3770947:T:G	N77H	0.999
19:3770948:C:A	Q76H	0.999
19:3770948:C:G	Q76H	0.999
19:3770952:A:C	F75C	0.999
19:3770953:A:C	F75V	0.999
19:3770953:A:T	F75I	0.999
19:3770954:C:A	W74C	0.999

dbSNP variants (sampled 300 via entrez): RS1000053528 (19:3768729 C>G), RS1000097116 (19:3768820 T>C), RS1000203042 (19:3771409 C>A,T), RS1000425934 (19:3771133 A>G), RS1000538650 (19:3772254 G>A), RS1000919337 (19:3773626 GAGA>G), RS1001154925 (19:3769938 C>G,T), RS1001431049 (19:3770364 G>A,C), RS1002124313 (19:3770836 T>A,G), RS1003674347 (19:3773546 C>T), RS1003891392 (19:3771473 C>A), RS1003963778 (19:3769508 G>A,T), RS1004070746 (19:3772089 A>C,T), RS1004477347 (19:3769354 C>G), RS1004674033 (19:3772531 G>A)

Disease associations

OMIM: gene MIM:610362 | disease phenotypes: MIM:620102, MIM:613757, MIM:610381

GenCC curated gene-disease

Disease	Classification	Inheritance
retinitis pigmentosa	Definitive	Autosomal recessive
retinitis pigmentosa 95	Strong	Autosomal recessive
cone-rod dystrophy 11	Strong	Autosomal dominant
cone-rod dystrophy	Supportive	Autosomal dominant

Mondo (7): retinitis pigmentosa 95 (MONDO:0859308), macular degeneration (MONDO:0003004), age related macular degeneration 6 (MONDO:0013406), cone-rod dystrophy 11 (MONDO:0012483), inherited retinal dystrophy (MONDO:0019118), cone-rod dystrophy (MONDO:0015993), retinitis pigmentosa (MONDO:0019200)

Orphanet (2): Cone rod dystrophy (Orphanet:1872), OBSOLETE: Inherited retinal disorder (Orphanet:71862)

HPO phenotypes

29 total (30 of 29 shown, HPO-id order):

HPO	Term
HP:0000006	Autosomal dominant inheritance
HP:0000007	Autosomal recessive inheritance
HP:0000505	Visual impairment
HP:0000529	Progressive visual loss
HP:0000543	Optic disc pallor
HP:0000548	Cone/cone-rod dystrophy
HP:0000551	Color vision defect
HP:0000603	Central scotoma
HP:0000608	Macular degeneration
HP:0000613	Photophobia
HP:0000639	Nystagmus
HP:0000662	Nyctalopia
HP:0000980	Pallor
HP:0001105	Retinal atrophy
HP:0001133	Constriction of peripheral visual field
HP:0003596	Middle age onset
HP:0007401	Macular atrophy
HP:0007641	Dyschromatopsia
HP:0007663	Reduced visual acuity
HP:0007703	Abnormal retinal pigmentation
HP:0007737	Spicular pigmentation of the retina
HP:0007843	Attenuation of retinal blood vessels
HP:0007924	Slow decrease in visual acuity
HP:0011463	Childhood onset
HP:0011504	Bull’s eye maculopathy
HP:0012508	Metamorphopsia
HP:0025710	Late young adult onset
HP:0030466	Abnormal full-field electroretinogram
HP:0030629	Perifoveal ring of hyperautofluorescence
HP:0000556	Retinal dystrophy

GWAS associations

1 associations (top):

Study	Trait	p-value
GCST006976_84	Macular thickness	3.000000e-09

MeSH disease descriptors (6)

Descriptor	Name	Tree numbers
D000071700	Cone-Rod Dystrophies	C11.270.152; C11.768.585.658.250; C16.320.290.152
D008268	Macular Degeneration	C11.768.585.439
D058499	Retinal Dystrophies	C11.768.585.658
D012174	Retinitis Pigmentosa	C11.270.684; C11.768.585.658.500; C16.320.290.684
C563671	Cone-Rod Dystrophy 11 (supp.)
C563674	Macular Degeneration, Age-Related, 6 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

15 total (human), top 15 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Acetaminophen	decreases expression, increases expression	2
ICG 001	increases expression	1
4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid	increases expression	1
Resveratrol	affects cotreatment, decreases expression	1
Atrazine	decreases expression	1
Benzo(a)pyrene	affects methylation	1
Endosulfan	decreases expression	1
Fluorouracil	affects expression	1
Hydrogen Peroxide	affects expression	1
Lead	increases expression	1
Plant Extracts	affects cotreatment, decreases expression	1
Valproic Acid	increases methylation	1
Cyclosporine	decreases methylation	1
Cadmium Chloride	increases 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_D6J9	SJTUGHi001-A	Induced pluripotent stem cell	Female

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00717080	PHASE4	COMPLETED	The Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00312351	PHASE4	TERMINATED	A Clinical Trial to Explore the Safety and Efficacy of Three Different Doses of Pegaptanib Sodium in Patients With Wet Age-Related Macular Degeneration (AMD)
NCT00324116	PHASE4	COMPLETED	Evaluation Of Safety And Efficacy Of 0.3 Mg/Eye Macugen In Patients With Small Age-Related Macular Degeneration Lesions
NCT00327470	PHASE4	TERMINATED	An Open Label Trial to Investigate Macugen for the Preservation of Visual Function in Subjects With Neovascular AMD
NCT00533520	PHASE4	COMPLETED	Evaluation of Dosing Interval of Higher Doses of Ranibizumab
NCT00813891	PHASE4	UNKNOWN	Efficacy of Ranibizumab in Combination With Photodynamic Therapy for Wet Age-Related Macular Degeneration
NCT01006538	PHASE4	COMPLETED	Macular EpiRetinal Brachytherapy Versus Lucentis® Only Treatment (MERLOT)
NCT01213667	PHASE4	UNKNOWN	Genetics in Non-response to Anti-VEGF Treatment in Exudative AMD
NCT01831947	PHASE4	COMPLETED	Efficacy Study of Ranibizumab on Patients With Age-related Macular Degeneration.
NCT02581891	PHASE4	COMPLETED	Managing Neovascular (Known as Wet) Age-related Macular Degeneration Over 2 Years Using Different Treatment Schedules of 2 mg Intravitreal Aflibercept Injected in the Eye
NCT02689518	PHASE4	COMPLETED	EAGLE: Evaluating Genotypes Using Intravitreal Aflibercept Injection
NCT03804099	PHASE4	COMPLETED	Effect Aflibercept on Ocular Perfusion
NCT07367282	PHASE4	NOT_YET_RECRUITING	Evaluate the Efficacy of Faricimab in Patients With Neovascular Age-related Macular Degeneration
NCT00000114	PHASE3	COMPLETED	Randomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116	PHASE3	COMPLETED	Randomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333	PHASE3	COMPLETED	Clinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395	PHASE3	TERMINATED	Phase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207	PHASE3	COMPLETED	Management of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853	PHASE3	COMPLETED	CB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220	PHASE3	ACTIVE_NOT_RECRUITING	Oral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301	PHASE3	COMPLETED	Management of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583	PHASE3	ACTIVE_NOT_RECRUITING	A Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200	PHASE3	ACTIVE_NOT_RECRUITING	A Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855	PHASE3	NOT_YET_RECRUITING	A Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530	PHASE3	NOT_YET_RECRUITING	24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00000145	PHASE3	COMPLETED	Age-Related Eye Disease Study (AREDS)
NCT00000150	PHASE3	COMPLETED	Submacular Surgery Trials (SST)
NCT00000152	PHASE3	UNKNOWN	Randomized Trial of Beta-Carotene and Macular Degeneration
NCT00000158	PHASE3	UNKNOWN	Macular Photocoagulation Study (MPS)
NCT00000161	PHASE3	UNKNOWN	Randomized Trials of Vitamin Supplements and Eye Disease
NCT00000162	PHASE3	COMPLETED	Branch Vein Occlusion Study
NCT00000167	PHASE3	COMPLETED	Complications of Age-Related Macular Degeneration Prevention Trial
NCT00041483	PHASE3	COMPLETED	Phase 3 Study to Evaluate Anecortave Acetate vs. Visudyne for the Treatment of the Wet Form of AMD
NCT00042211	PHASE3	COMPLETED	Preventing Depression in Patients With Macular Degeneration
NCT00050479	PHASE3	COMPLETED	Laser and Medical Treatment of Diabetic Macular Edema
NCT00051129	PHASE3	COMPLETED	Anecortave Acetate in Subfoveal Choroidal Neovascularization (CNV) Due to Wet Age-Related Macular Degeneration (AMD)
NCT00056836	PHASE3	COMPLETED	A Study to Evaluate rhuFab V2 in Subjects With Minimally Classic or Occult Subfoveal Neovascular Macular Degeneration
NCT00058994	PHASE3	COMPLETED	An Evaluation of Safety and Efficacy of Anecortave Acetate Versus Placebo in Patients With Subfoveal CNV Due to Exudative AMD
NCT00061594	PHASE3	COMPLETED	A Study to Compare rhuFab V2 With Verteporfin Photodynamic in Treating Subfoveal Neovascular Macular Degeneration
NCT00065728	PHASE3	TERMINATED	Open-Label Posterior Juxtascleral Injections of Anecortave Acetate 15mg Dose for Long Term Use in Patients With AMD