IQCE

Summary

IQCE (IQ motif containing E, HGNC:29171) is a protein-coding gene on chromosome 7p22.3, encoding IQ domain-containing protein E (Q6IPM2). Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling.

Involved in limb morphogenesis. Predicted to be located in cytoplasmic side of plasma membrane. Predicted to be part of plasma membrane protein complex.

Source: NCBI Gene 23288 — RefSeq curated summary.

At a glance

• Gene–disease (curated): polydactyly, postaxial, type a7 (Strong, GenCC) — +1 more curated relationship
• GWAS associations: 3
• Clinical variants (ClinVar): 266 total — 5 pathogenic, 5 likely-pathogenic
• Phenotypes (HPO): 6
• MANE Select transcript: NM_152558

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:29171
Approved symbol	IQCE
Name	IQ motif containing E
Location	7p22.3
Locus type	gene with protein product
Status	Approved
Aliases	KIAA1023
Ensembl gene	ENSG00000106012
Ensembl biotype	protein_coding
OMIM	617631
Entrez	23288

Gene structure

Transcript identifiers

Ensembl transcripts: 18 — 13 protein_coding, 2 retained_intron, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay

ENST00000325979, ENST00000325997, ENST00000402050, ENST00000415271, ENST00000422276, ENST00000423196, ENST00000423395, ENST00000427817, ENST00000438376, ENST00000470731, ENST00000476665, ENST00000486730, ENST00000490913, ENST00000497572, ENST00000611775, ENST00000623361, ENST00000910211, ENST00000949542

RefSeq mRNA: 6 — MANE Select: NM_152558 NM_001287499, NM_001287500, NM_001287501, NM_001287502, NM_001410865, NM_152558

CCDS: CCDS43542, CCDS47527, CCDS75559, CCDS75560, CCDS94047

Canonical transcript exons

ENST00000402050 — 22 exons

Exon	Start	End
ENSE00001268250	2558979	2559217
ENSE00001869208	2610044	2614728
ENSE00003506283	2571526	2571654
ENSE00003549189	2568954	2568999
ENSE00003673968	2567116	2567163
ENSE00003703420	2604881	2604991
ENSE00003703485	2572192	2572326
ENSE00003703512	2573418	2573488
ENSE00003703918	2594886	2594976
ENSE00003705134	2583637	2583709
ENSE00003705203	2582580	2582650
ENSE00003706949	2605876	2605997
ENSE00003707209	2586208	2586371
ENSE00003707278	2593022	2593126
ENSE00003707339	2589907	2590106
ENSE00003708191	2584236	2584285
ENSE00003710444	2598465	2598632
ENSE00003710478	2587822	2587877
ENSE00003710739	2601441	2601464
ENSE00003711142	2607124	2607227
ENSE00003788753	2578242	2578355
ENSE00003791082	2578476	2578526

Expression profiles

Bgee: expression breadth ubiquitous, 231 present calls, max score 93.85.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.3852 / max 110.0647, expressed in 1768 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter ID	TPM avg	Samples expressed
76985	7.2015	1740
76984	1.7811	1044
76987	0.1959	91
76986	0.1592	55
76989	0.0225	5
76990	0.0130	3
76988	0.0119	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	93.85	gold quality
right testis	UBERON:0004534	93.84	gold quality
sural nerve	UBERON:0015488	93.18	gold quality
bronchial epithelial cell	CL:0002328	91.11	gold quality
testis	UBERON:0000473	91.03	gold quality
epithelium of bronchus	UBERON:0002031	90.41	gold quality
right uterine tube	UBERON:0001302	89.76	gold quality
bronchus	UBERON:0002185	89.57	gold quality
cortical plate	UBERON:0005343	89.35	gold quality
mucosa of paranasal sinus	UBERON:0005030	87.44	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	86.93	gold quality
C1 segment of cervical spinal cord	UBERON:0006469	86.42	gold quality
pituitary gland	UBERON:0000007	85.31	gold quality
adenohypophysis	UBERON:0002196	85.24	gold quality
right frontal lobe	UBERON:0002810	84.81	gold quality
stromal cell of endometrium	CL:0002255	84.60	gold quality
right lobe of thyroid gland	UBERON:0001119	84.49	gold quality
spinal cord	UBERON:0002240	84.38	gold quality
cingulate cortex	UBERON:0003027	84.10	gold quality
left lobe of thyroid gland	UBERON:0001120	83.97	gold quality
anterior cingulate cortex	UBERON:0009835	83.96	gold quality
amygdala	UBERON:0001876	83.94	gold quality
prefrontal cortex	UBERON:0000451	83.90	gold quality
hypothalamus	UBERON:0001898	83.86	gold quality
body of uterus	UBERON:0009853	83.62	gold quality
nucleus accumbens	UBERON:0001882	83.56	gold quality
caudate nucleus	UBERON:0001873	83.43	gold quality
putamen	UBERON:0001874	83.34	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	83.33	gold quality
thyroid gland	UBERON:0002046	83.28	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-ANND-3	yes	7.64

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

129 targeting IQCE, 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-3924	100.00	72.09	2394
HSA-MIR-5193	100.00	67.26	1744
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-1184	99.99	68.19	1458
HSA-MIR-3667-3P	99.99	67.17	1636
HSA-MIR-568	99.98	69.86	2084
HSA-MIR-4650-5P	99.98	64.69	999
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3148	99.97	75.06	6478
HSA-MIR-7152-3P	99.97	67.47	849
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-559	99.95	72.28	3609
HSA-MIR-96-5P	99.95	72.80	2140
HSA-MIR-9983-3P	99.94	71.48	3631
HSA-MIR-1236-3P	99.94	68.04	1695
HSA-MIR-450B-5P	99.92	71.48	3175
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-6768-5P	99.92	67.36	1942
HSA-MIR-4731-5P	99.89	67.23	2537
HSA-MIR-124-3P	99.89	73.74	3043
HSA-MIR-506-3P	99.89	73.55	3057
HSA-MIR-6783-3P	99.89	67.92	2059
HSA-MIR-129-5P	99.88	70.26	3273
HSA-MIR-3140-3P	99.88	68.47	2069
HSA-MIR-3919	99.87	69.45	2489
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-3151-5P	99.86	63.83	1069
HSA-MIR-4799-5P	99.82	70.60	2663
HSA-MIR-6756-5P	99.82	67.97	2466

Literature-anchored findings (GeneRIF, showing 2)

• Frameshift and a premature stop codon 22 in IQCE completely co-segregated with post-axial polydactyly phenotype within the family. (PMID:28488682)
• Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish. (PMID:31549751)

Cross-species orthologs

0 orthologs

Paralogs (1): IQCN (ENSG00000130518)

Protein

Protein identifiers

IQ domain-containing protein E — Q6IPM2 (reviewed: Q6IPM2)

All UniProt accessions (8): Q6IPM2, A0A087WX19, A0A087WX45, C9J5R6, C9JE72, C9JP75, H7C427, X5D7Y5

UniProt curated annotations — full annotation on UniProt →

Function. Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Required for proper limb morphogenesis.

Subunit / interactions. Component of the EvC complex composed of EFCAB7, IQCE, EVC2 and EVC; built from two subcomplexes, EVC2:EVC and EFCAB7:IQCE. Interacts (via N-terminus) with EFCAB7 (via EF-hands 1 and 2); this interaction anchors the EVC-EVC2 complex in a signaling microdomain at the base of cilia and stimulates the Hedgehog (Hh) pathway. Interacts with EVC2 (via N-terminal end). Interacts with EVC.

Subcellular location. Cell projection. Cilium membrane.

Disease relevance. Polydactyly, postaxial, A7 (PAPA7) [MIM:617642] A form of postaxial polydactyly, a condition characterized by the occurrence of supernumerary digits in the upper and/or lower extremities. In postaxial polydactyly type A, the extra digit is well-formed and articulates with the fifth or a sixth metacarpal/metatarsal. PAPA7 is an autosomal recessive condition characterized by postaxial polydactyly restricted to the feet. The disease may be caused by variants affecting the gene represented in this entry.

Isoforms (4)

UniProt ID	Names	Canonical?
Q6IPM2-1	1	yes
Q6IPM2-2	2
Q6IPM2-3	3
Q6IPM2-4	4

RefSeq proteins (6): NP_001274428, NP_001274429, NP_001274430, NP_001274431, NP_001397794, NP_689771* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000048	IQ_motif_EF-hand-BS	Binding_site
IPR052318	CellDiv_DevSignal_Domain	Family

Pfam: PF00612

UniProt features (25 total): sequence variant 6, region of interest 5, coiled-coil region 3, splice variant 3, sequence conflict 3, domain 2, chain 1, compositionally biased region 1, modified residue 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q6IPM2-F1	69.36	0.39

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): 322

Function

Pathways and Gene Ontology

Reactome pathways

4 pathways

ID	Pathway
R-HSA-5635838	Activation of SMO
R-HSA-162582	Signal Transduction
R-HSA-5358351	Signaling by Hedgehog
R-HSA-5632684	Hedgehog ‘on’ state

MSigDB gene sets: 131 (showing top): MULLIGHAN_NPM1_SIGNATURE_3_UP, chr7p22, GOBP_APPENDAGE_DEVELOPMENT, GNF2_CCNA1, NIKOLSKY_BREAST_CANCER_7P22_AMPLICON, PARENT_MTOR_SIGNALING_UP, GOCC_CELL_PROJECTION_MEMBRANE, CHARAFE_BREAST_CANCER_LUMINAL_VS_MESENCHYMAL_UP, MASSARWEH_TAMOXIFEN_RESISTANCE_UP, GOCC_PLASMA_MEMBRANE_REGION, GOCC_CILIARY_MEMBRANE, GOCC_CILIUM, MULLIGHAN_MLL_SIGNATURE_1_UP, MULLIGHAN_NPM1_MUTATED_SIGNATURE_1_UP, GOBP_APPENDAGE_MORPHOGENESIS

GO Biological Process (1): limb morphogenesis (GO:0035108)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (5): cilium (GO:0005929), ciliary membrane (GO:0060170), plasma membrane (GO:0005886), membrane (GO:0016020), cell projection (GO:0042995)

Reactome top-level categories

Rollup of top-3 pathways:

Category	Pathways
Hedgehog ‘on’ state	1
Signal Transduction	1
Signaling by Hedgehog	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
appendage morphogenesis	1
limb development	1
binding	1
intraciliary transport particle	1
membrane-bounded organelle	1
plasma membrane bounded cell projection	1
cilium	1
cell projection membrane	1
bounding membrane of organelle	1
membrane	1
cell periphery	1

Protein interactions and networks

STRING

1024 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
IQCE	EFCAB7	A8K855	943
IQCE	EVC2	Q86UK5	778
IQCE	ZNF141	Q15928	706
IQCE	KIAA0825	Q8IV33	610
IQCE	CIBAR1	A1XBS5	591
IQCE	TTC23	Q5W5X9	507
IQCE	DLG5	Q8TDM6	503
IQCE	EVC	P57679	491
IQCE	TMEM143	Q96AN5	480
IQCE	BAHCC1	Q9P281	469
IQCE	GLI1	P08151	457
IQCE	CAPN15	O75808	448
IQCE	MAD1L1	Q9Y6D9	441
IQCE	LMBR1	Q8WVP7	433
IQCE	MIPOL1	Q8TD10	431

IntAct

54 interactions, top by confidence:

A	B	Type	Score
IQCE	PSMA3	psi-mi:“MI:0915”(physical association)	0.670
IQCE	TTC23L	psi-mi:“MI:0915”(physical association)	0.660
HEL-S-72	IQCE	psi-mi:“MI:0915”(physical association)	0.560
IQCE		psi-mi:“MI:0915”(physical association)	0.560
IQCE	HEL-S-72	psi-mi:“MI:0915”(physical association)	0.560
	IQCE	psi-mi:“MI:0915”(physical association)	0.560
IQCE	GPSM3	psi-mi:“MI:0915”(physical association)	0.560
HNRNPF	IQCE	psi-mi:“MI:0915”(physical association)	0.560
TTC23	IQCE	psi-mi:“MI:0915”(physical association)	0.560
TTC23L	EFCAB7	psi-mi:“MI:0914”(association)	0.530
CLEC11A	VWA8	psi-mi:“MI:0914”(association)	0.530
CRK	IQCE	psi-mi:“MI:0407”(direct interaction)	0.440
H1-2	IQCE	psi-mi:“MI:0915”(physical association)	0.400
IQCE	CARD9	psi-mi:“MI:0915”(physical association)	0.370
IQCE	CEP70	psi-mi:“MI:0915”(physical association)	0.370
IQCE	GOLGA2	psi-mi:“MI:0915”(physical association)	0.370
IQCE	HOOK2	psi-mi:“MI:0915”(physical association)	0.370
IQCE	LZTS2	psi-mi:“MI:0915”(physical association)	0.370
IQCE	MTUS2	psi-mi:“MI:0915”(physical association)	0.370
IQCE	RPGRIP1	psi-mi:“MI:0915”(physical association)	0.370
IQCE	SPAG5	psi-mi:“MI:0915”(physical association)	0.370

BioGRID (46): IQCE (Two-hybrid), IQCE (Two-hybrid), IQCE (Two-hybrid), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Affinity Capture-MS), IQCE (Two-hybrid), CALM2 (Two-hybrid), CALM3 (Two-hybrid), MGAT5B (Two-hybrid), HNRNPF (Two-hybrid)

ESM2 similar proteins: A0A8I5ZM56, A2AG50, A2AI08, A2AJI0, A5D7K1, D4A4L4, E1C2Q8, F1LR10, O00515, O14529, O75128, O88573, O88735, P51825, P57016, Q14244, Q32LQ1, Q3KQU3, Q3U2K0, Q5JTD0, Q5NBX1, Q5PR69, Q5R7F9, Q5XHX2, Q5ZIA2, Q5ZJJ1, Q68DK7, Q6IPM2, Q6NV74, Q6NZF1, Q6PDH0, Q6PDM1, Q6PG95, Q6ZU35, Q86UU1, Q8CCJ4, Q8K124, Q8N7J2, Q8TD55, Q96PV7

Diamond homologs: Q6IPM2, Q6PCQ0

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	5
Likely pathogenic	5
Uncertain significance	146
Likely benign	33
Benign	41

Top pathogenic / likely-pathogenic (10)

Variant ID	HGVS	Classification
3377144	NM_152558.5(IQCE):c.1540del (p.Cys514fs)	Pathogenic
3377151	NM_152558.5(IQCE):c.1493G>A (p.Trp498Ter)	Pathogenic
437834	NM_152558.5(IQCE):c.395-1G>A	Pathogenic
4530591	NM_152558.5(IQCE):c.765C>G (p.Tyr255Ter)	Pathogenic
638150	NM_152558.5(IQCE):c.1350_1353del	Pathogenic
1030264	NM_152558.5(IQCE):c.3G>A (p.Met1Ile)	Likely pathogenic
2506557	GRCh37/hg19 7p22.3(chr7:2606751-2641098)	Likely pathogenic
3065859	NM_152558.5(IQCE):c.1616dup (p.Ala540fs)	Likely pathogenic
3350769	NM_152558.5(IQCE):c.1180C>T (p.Arg394Ter)	Likely pathogenic
563350	GRCh37/hg19 7p22.3(chr7:2219184-2612472)x1	Likely pathogenic

SpliceAI

4632 predictions. Top by Δscore:

Variant	Effect	Δscore
7:2568995:GCCAA:G	donor_gain	1.0000
7:2569000:G:GG	donor_gain	1.0000
7:2578351:GCCGC:G	donor_gain	1.0000
7:2578354:GC:G	donor_gain	1.0000
7:2578356:G:GG	donor_gain	1.0000
7:2583635:A:AG	acceptor_gain	1.0000
7:2583636:G:GG	acceptor_gain	1.0000
7:2583636:GC:G	acceptor_gain	1.0000
7:2583636:GCA:G	acceptor_gain	1.0000
7:2583636:GCAA:G	acceptor_gain	1.0000
7:2583706:GGAG:G	donor_gain	1.0000
7:2583707:GAGG:G	donor_gain	1.0000
7:2583708:AGGTG:A	donor_loss	1.0000
7:2583709:GGTG:G	donor_loss	1.0000
7:2583710:GT:G	donor_loss	1.0000
7:2584283:G:GT	donor_gain	1.0000
7:2584286:G:GG	donor_gain	1.0000
7:2584306:C:G	donor_gain	1.0000
7:2586320:G:GT	donor_gain	1.0000
7:2586370:GG:G	donor_gain	1.0000
7:2586371:GG:G	donor_gain	1.0000
7:2589903:CCAGA:C	acceptor_loss	1.0000
7:2589904:CA:C	acceptor_loss	1.0000
7:2589905:A:AG	acceptor_gain	1.0000
7:2589905:A:T	acceptor_loss	1.0000
7:2589906:G:GG	acceptor_gain	1.0000
7:2589906:G:GT	acceptor_loss	1.0000
7:2589906:GA:G	acceptor_gain	1.0000
7:2589906:GAA:G	acceptor_gain	1.0000
7:2589906:GAAA:G	acceptor_gain	1.0000

AlphaMissense

4509 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:2578294:G:C	R173P	0.997
7:2578288:T:C	L171P	0.996
7:2578291:G:C	R172P	0.996
7:2578297:T:C	L174P	0.996
7:2578339:T:C	L188P	0.996
7:2573485:G:C	K154N	0.995
7:2573485:G:T	K154N	0.995
7:2586294:T:C	L304P	0.995
7:2578324:G:C	R183P	0.994
7:2582593:T:C	L215P	0.994
7:2582614:T:C	L222P	0.994
7:2584246:T:C	L262P	0.993
7:2573481:T:C	L153S	0.992
7:2584243:G:C	R261P	0.992
7:2586315:T:C	L311P	0.992
7:2573472:T:C	I150T	0.991
7:2578293:C:A	R173S	0.991
7:2578319:G:C	K181N	0.991
7:2578319:G:T	K181N	0.991
7:2573472:T:G	I150S	0.988
7:2583642:T:C	L236P	0.987
7:2586319:G:C	K312N	0.986
7:2586319:G:T	K312N	0.986
7:2586327:T:C	L315P	0.986
7:2583681:G:C	R249P	0.982
7:2578330:T:A	I185K	0.981
7:2573461:G:A	M146I	0.980
7:2573461:G:C	M146I	0.980
7:2573461:G:T	M146I	0.980
7:2578327:A:C	Q184P	0.980

dbSNP variants (sampled 300 via entrez): RS1000000903 (7:2582389 C>G,T), RS1000028808 (7:2613449 G>A), RS1000097316 (7:2609414 G>C), RS1000106569 (7:2593920 G>A,C), RS1000161613 (7:2608394 C>T), RS1000216919 (7:2597865 G>A), RS1000221450 (7:2605720 G>A), RS1000274801 (7:2582651 G>A,T), RS1000314634 (7:2569674 C>T), RS1000334512 (7:2601776 C>T), RS1000339400 (7:2602306 C>A), RS1000354593 (7:2560789 C>T), RS1000436863 (7:2573199 T>C), RS1000449307 (7:2606385 C>T), RS1000528476 (7:2610487 C>T)

Disease associations

OMIM: gene MIM:617631 | disease phenotypes: MIM:617642, MIM:174200

GenCC curated gene-disease

Disease	Classification	Inheritance
polydactyly, postaxial, type a7	Strong	Autosomal recessive
postaxial polydactyly type A	Supportive	Autosomal recessive

Mondo (6): polydactyly, postaxial, type a7 (MONDO:0060550), retinal degeneration (MONDO:0004580), polydactyly, postaxial, type A1 (MONDO:0008266), syndactyly (MONDO:0021002), brachydactyly (MONDO:0021004), postaxial polydactyly type A (MONDO:0019673)

Orphanet (0):

HPO phenotypes

6 total (8 of 6 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0001162	Postaxial hand polydactyly
HP:0001830	Postaxial foot polydactyly
HP:0003577	Congenital onset
HP:0004704	Short fifth metatarsal
HP:0005709	2-3 toe cutaneous syndactyly
HP:0001159	Syndactyly
HP:0001156	Brachydactyly

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST002830_32	Urate levels in lean individuals	6.000000e-06
GCST005721_5	Food allergy (parent-of-origin effect)	8.000000e-06
GCST009838_2	Anxiety disorders	5.000000e-08

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0004531	urate measurement
EFO:0005939	parental genotype effect measurement
EFO:0007016	food allergy measurement

MeSH disease descriptors (3)

Descriptor	Name	Tree numbers
D059327	Brachydactyly	C05.660.585.262; C16.131.621.585.262
D012162	Retinal Degeneration	C11.270.612; C11.768.585
D013576	Syndactyly	C05.116.099.370.894.819; C05.660.585.800; C05.660.906.819; C16.131.621.585.800; C16.131.621.906.819

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	affects expression, increases expression, increases methylation	4
Benzo(a)pyrene	affects methylation, decreases expression, increases methylation	3
mercuric bromide	decreases expression, affects cotreatment	2
Arsenic	affects methylation, decreases expression, increases abundance	2
aristolochic acid I	increases expression	1
dicrotophos	increases expression	1
methylmercuric chloride	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases methylation	1
tris(1,3-dichloro-2-propyl)phosphate	decreases expression	1
sodium arsenite	decreases expression, increases abundance	1
benzo(e)pyrene	decreases methylation	1
aflatoxin B2	decreases methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
bisphenol S	decreases methylation	1
Air Pollutants	affects expression, increases abundance	1
Vehicle Emissions	affects expression, increases abundance	1
Doxorubicin	decreases expression	1
Methapyrilene	decreases methylation	1
Methyl Methanesulfonate	increases expression	1
Ozone	affects expression, increases abundance	1
Phthalic Acids	affects methylation	1
Ribonucleotides	affects binding	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression	1
Tobacco Smoke Pollution	decreases expression	1
Tretinoin	decreases expression	1
Zinc	decreases expression	1

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00716586	PHASE4	COMPLETED	Treatment of Cystoid Macular Edema in Patients With Retinal Degeneration
NCT04564430	PHASE4	UNKNOWN	Clonidine for Tourniquet-related Pain in Children
NCT02157077	PHASE3	COMPLETED	Aflibercept After Ranibizumab in Exudative Age-related Macular Degeneration
NCT03954626	PHASE3	COMPLETED	Study to Collect Safety and ECG Data on Brolucizumab 6 mg Intravitreal Treatment in Patients With Wet AMD
NCT06305416	PHASE3	RECRUITING	A Efficacy and Safety Study of Ranibizumab 10mg/ml Injection (Incepta) in Patients With Diabetic Macular Edema
NCT01399515	PHASE2	COMPLETED	Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT02348359	PHASE2	TERMINATED	X-82 to Treat Age-related Macular Degeneration
NCT04643886	PHASE2	TERMINATED	A Multiple Dose Study of Repeat Intravitreal Injections of GEM103 in Dry Age-related Macular Degeneration
NCT04684394	PHASE2	TERMINATED	A Multiple Dose Study of Repeat Intravitreal Injections of GEM103 in Neovascular Age-related Macular Degeneration
NCT04945772	PHASE2	COMPLETED	Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT06011798	PHASE2	COMPLETED	Assess the Efficacy and Safety of Repeat Intravitreal Injections of Foselutoclax (UBX1325) in Patients With DME (ASPIRE)
NCT07174687	PHASE2	RECRUITING	SGLT2 Inhibitors in Geographic Atrophy
NCT00877032	PHASE1	COMPLETED	Safety And Tolerability Study Of RN6G In Patients With Dry, Age-Related Macular Degeneration
NCT01003691	PHASE1	COMPLETED	Safety And Tolerability Study Of RN6G In Subjects With Advanced Dry, Age-Related Macular Degeneration Including Geographic Atrophy
NCT01024998	PHASE1	COMPLETED	Safety and Tolerability Study of AAV2-sFLT01 in Patients With Neovascular Age-Related Macular Degeneration (AMD)
NCT02330978	PHASE1	COMPLETED	Intravitreal Mesenchymal Stem Cell Transplantation in Advanced Glaucoma.
NCT02543229	PHASE1	COMPLETED	Study Evaluating the Safety, Pharmacokinetics and Pharmacodynamics of OPT-302 With or Without Lucentis™ in Patients With Wet AMD
NCT03772938	PHASE1	UNKNOWN	Stem Cells Therapy in Degenerative Diseases of the Retina
NCT04246866	PHASE1	COMPLETED	First in Human Study to Evaluate the Safety and Tolerability of GEM103 in Geographic Atrophy Secondary to Dry Age Related Macular Degeneration
NCT06455826	PHASE1	COMPLETED	MAD of IVT VP-001 in PRPF31 Mutation-Associated Retinal Dystrophy Subjects (Wallaby)
NCT04855045	PHASE2/PHASE3	UNKNOWN	An Open-label, Dose Escalation and Double-masked, Randomized, Controlled Trial Evaluating Safety and Tolerability of Sepofarsen in Children (<8 Years of Age) With LCA10 Caused by Mutations in the CEP290 Gene.
NCT00643747	PHASE1/PHASE2	COMPLETED	Safety Study of RPE65 Gene Therapy to Treat Leber Congenital Amaurosis
NCT01278277	PHASE1/PHASE2	UNKNOWN	Saffron Supplementation in Stargardt’s Disease
NCT01494805	PHASE1/PHASE2	COMPLETED	Safety and Efficacy Study of rAAV.sFlt-1 in Patients With Exudative Age-Related Macular Degeneration
NCT02144103	PHASE1/PHASE2	UNKNOWN	Effectiveness and Safety of Adipose-Derived Regenerative Cells for Treatment of Glaucomatous Neurodegeneration
NCT03846193	PHASE1/PHASE2	TERMINATED	FOCUS: A Phase I/II First in Human Study to Evaluate the Safety and Efficacy of GT005 Administered in Subjects With Dry AMD
NCT03872479	PHASE1/PHASE2	UNKNOWN	Single Ascending Dose Study in Participants With LCA10
NCT04545736	PHASE1/PHASE2	RECRUITING	Oral Metformin for Treatment of ABCA4 Retinopathy
NCT04919473	PHASE1/PHASE2	COMPLETED	Dose-Escalation Study to Evaluate the Safety and Tolerability of Intravitreal vMCO-I in Patients With Advanced Retinitis Pigmentosa
NCT05474729	PHASE1/PHASE2	RECRUITING	Minocycline for Chronic Autoimmune Uveitis
NCT06789445	PHASE1/PHASE2	RECRUITING	A Study to Investigate the Safety of OpCT-001 in Adults Who Have Primary Photoreceptor Disease (CLARICO)
NCT06852963	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	A Repeat-Dose, Open-Label, Two Arm Safety and Efficacy Study of Two Doses of VP-001 Administered Intravitreally in Participants With Confirmed PRPF31 Mutation-Associated Retinal Dystrophy, Including Participants Previously Treated With VP001
NCT03078309	EARLY_PHASE1	UNKNOWN	The Effects of Cannabis on Visual Functions in Healthy and Retinitis Pigmentosa Patients
NCT06289452	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	Safety and Efficacy Study of IVB102 Injection in Subjects With X-linked Retinoschisis
NCT07269665	EARLY_PHASE1	NOT_YET_RECRUITING	First-in-Human, Dose Escalation Trial of AXV-101 in BBS1-Related Retinal Degeneration
NCT00001164	Not specified	COMPLETED	Studies of Patients With Skin Disease, Patients With Neurological Degenerations, and Normal Volunteers
NCT00125632	Not specified	COMPLETED	Measuring Reading Rehabilitation Outcomes
NCT00231010	Not specified	COMPLETED	Molecular Genetics of Retinal Degenerations
NCT00403195	Not specified	COMPLETED	Clinical and Pathophysiological Description of Ocular Ischemic Syndrome
NCT00746668	Not specified	COMPLETED	A Multi-Center Study of Reading Rehabilitation in Macular Disease