SLC39A12

gene
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Also known as FLJ30499ZIP12

Summary

SLC39A12 (solute carrier family 39 member 12, HGNC:20860) is a protein-coding gene on chromosome 10p12.33, encoding Zinc transporter ZIP12 (Q504Y0). Uniporter that promotes Zn(2+) import from the extracellular space to the cytoplasm across the cell membrane.

Zinc is an essential cofactor for hundreds of enzymes. It is involved in protein, nucleic acid, carbohydrate, and lipid metabolism, as well as in the control of gene transcription, growth, development, and differentiation. SLC39A12 belongs to a subfamily of proteins that show structural characteristics of zinc transporters (Taylor and Nicholson, 2003 [PubMed 12659941]).

Source: NCBI Gene 221074 — RefSeq curated summary.

At a glance

  • Gene–disease (curated): retinitis pigmentosa (Limited, GenCC)
  • GWAS associations: 8
  • Clinical variants (ClinVar): 102 total
  • MANE Select transcript: NM_001145195

Identifiers

Gene identifiers

FieldValue
HGNC IDHGNC:20860
Approved symbolSLC39A12
Namesolute carrier family 39 member 12
Location10p12.33
Locus typegene with protein product
StatusApproved
AliasesFLJ30499, ZIP12
Ensembl geneENSG00000148482
Ensembl biotypeprotein_coding
OMIM608734
Entrez221074

Gene structure

Transcript identifiers

Ensembl transcripts: 5 — 5 protein_coding

ENST00000377369, ENST00000377371, ENST00000377374, ENST00000539911, ENST00000968699

RefSeq mRNA: 4 — MANE Select: NM_001145195 NM_001145195, NM_001282733, NM_001282734, NM_152725

CCDS: CCDS44362, CCDS60493, CCDS60494, CCDS7124

Canonical transcript exons

ENST00000377369 — 13 exons

ExonStartEnd
ENSE000038431511804270518043285
ENSE000038459861795191817952025
ENSE000038893581799318117993291
ENSE000038895131796548317965690
ENSE000038900191799115117991303
ENSE000038915041798131217981483
ENSE000038919651800317118003358
ENSE000038925401800066718000825
ENSE000038933441799565617995722
ENSE000038942331798747917987651
ENSE000038948101797790217978074
ENSE000038949891796158117961862
ENSE000038958241795319117953537

Expression profiles

Bgee: expression breadth broad, 89 present calls, max score 99.54.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 1.7676 / max 395.2276, expressed in 111 samples.

FANTOM5 promoters (7 alternative TSS)

Promoter IDTPM avgSamples expressed
1041051.213093
1041090.294049
1041060.126967
1041040.064132
1041080.056410
1041070.00906
1041030.00431

Top tissues by expression

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

TissueAnatomy IDExpression scoreQuality
pigmented layer of retinaUBERON:000178299.54gold quality
secondary oocyteCL:000065589.90gold quality
cerebellar vermisUBERON:000472089.56gold quality
lateral globus pallidusUBERON:000247687.56gold quality
primordial germ cell in gonadCL:0000670 ∩ UBERON:000099185.41gold quality
anterior cingulate cortexUBERON:000983584.07gold quality
putamenUBERON:000187483.83gold quality
entorhinal cortexUBERON:000272883.42gold quality
Brodmann (1909) area 9UBERON:001354083.16gold quality
amygdalaUBERON:000187682.81gold quality
Ammon’s hornUBERON:000195482.79gold quality
superior frontal gyrusUBERON:000266182.52gold quality
temporal lobeUBERON:000187182.35gold quality
right frontal lobeUBERON:000281082.25gold quality
dorsolateral prefrontal cortexUBERON:000983481.86gold quality
oocyteCL:000002381.41gold quality
postcentral gyrusUBERON:000258181.40gold quality
cerebral cortexUBERON:000095680.04gold quality
male germ line stem cell (sensu Vertebrata) in testisCL:0000089 ∩ UBERON:000047380.02gold quality
frontal cortexUBERON:000187079.93gold quality
neocortexUBERON:000195079.60gold quality
nucleus accumbensUBERON:000188279.57gold quality
caudate nucleusUBERON:000187378.75gold quality
substantia nigraUBERON:000203878.71gold quality
prefrontal cortexUBERON:000045178.68gold quality
parietal lobeUBERON:000187278.51gold quality
corpus callosumUBERON:000233677.75gold quality
forebrainUBERON:000189077.68gold quality
primary visual cortexUBERON:000243677.63gold quality
midbrainUBERON:000189176.72gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 2.

ExperimentMarker?Max mean expression
E-GEOD-135922yes15.41
E-GEOD-84465yes11.44
E-ANND-3no0.00

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

43 targeting SLC39A12, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNAMax scoreAvg scoremiRNA target_count
HSA-MIR-3163100.0077.238605
HSA-MIR-548C-3P99.9974.017587
HSA-MIR-428299.9975.366408
HSA-MIR-499A-5P99.9870.791323
HSA-MIR-25-3P99.9874.601817
HSA-MIR-32-5P99.9875.211964
HSA-MIR-363-3P99.9874.721821
HSA-MIR-367-3P99.9874.831819
HSA-MIR-92A-3P99.9875.211960
HSA-MIR-92B-3P99.9875.251955
HSA-MIR-314899.9775.066478
HSA-MIR-302C-5P99.9772.563642
HSA-MIR-5582-3P99.8672.484221
HSA-MIR-548AR-3P99.8571.263889
HSA-MIR-548AZ-3P99.8270.563549
HSA-MIR-548BC99.8270.613524
HSA-MIR-548E-3P99.8270.593514
HSA-MIR-548F-3P99.8270.593540
HSA-MIR-808099.8267.521342
HSA-MIR-4668-5P99.7970.583782
HSA-MIR-57799.7869.132479
HSA-MIR-548A-3P99.7670.583524
HSA-MIR-58699.6570.402051
HSA-MIR-561-3P99.6470.903647
HSA-MIR-7844-5P99.5568.561428
HSA-MIR-106A-3P99.5367.58995
HSA-MIR-54399.5269.032595
HSA-MIR-5584-5P99.4968.222814
HSA-MIR-217-5P99.4969.931419
HSA-MIR-20A-3P99.4469.101575

Literature-anchored findings (GeneRIF, showing 3)

  • Examination of the zinc transporter gene, SLC39A12. (PMID:16311021)
  • Data indicate that the zinc transporter ZIP12 (slc39a12) is highly expressed in brain. (PMID:23716681)
  • Role of zinc transporter ZIP12 in susceptibility-weighted brain magnetic resonance imaging (MRI) phenotypes and mitochondrial function. (PMID:32716562)

Cross-species orthologs

4 orthologs

OrganismSymbolGene ID
mus_musculusSlc39a12ENSMUSG00000036949
rattus_norvegicusSlc39a12ENSRNOG00000025639
drosophila_melanogasterZip71BFBGN0036461
caenorhabditis_elegansWBGENE00021936

Paralogs (6): SLC39A14 (ENSG00000104635), SLC39A8 (ENSG00000138821), SLC39A5 (ENSG00000139540), SLC39A6 (ENSG00000141424), SLC39A4 (ENSG00000147804), SLC39A10 (ENSG00000196950)

Protein

Protein identifiers

Zinc transporter ZIP12Q504Y0 (reviewed: Q504Y0)

Alternative names: LIV-1 subfamily of ZIP zinc transporter 8, Solute carrier family 39 member 12, Zrt- and Irt-like protein 12

All UniProt accessions (1): Q504Y0

UniProt curated annotations — full annotation on UniProt →

Function. Uniporter that promotes Zn(2+) import from the extracellular space to the cytoplasm across the cell membrane. The transport activity is temperature dependent. May play a role in neurulation and neurite extension. May play a key role in maintaining intracellular zinc content at levels that reduce the inhibitory effects of rises in oxidative stress on spermatogonia and spermatozoa viability during spermatogenesis.

Subcellular location. Membrane.

Tissue specificity. Expressed in brain and eye.

Similarity. Belongs to the ZIP transporter (TC 2.A.5) family.

Isoforms (5)

UniProt IDNamesCanonical?
Q504Y0-11yes
Q504Y0-22
Q504Y0-33
Q504Y0-44
Q504Y0-55

RefSeq proteins (4): NP_001138667, NP_001269662, NP_001269663, NP_689938 (=MANE)

Domains & families (InterPro)

IDNameType
IPR003689ZIPFamily
IPR041137ZIP4_NDomain
IPR049406ZIP4_12_EF-handDomain
IPR050799ZIP_TransporterFamily

Pfam: PF02535, PF18292, PF21116

Catalyzed reactions (Rhea), 1 shown:

  • Zn(2+)(in) = Zn(2+)(out) (RHEA:29351)

UniProt features (32 total): topological domain 9, transmembrane region 8, splice variant 5, sequence variant 5, sequence conflict 3, chain 1, short sequence motif 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

ModelpLDDTFraction very-high
AF-Q504Y0-F169.450.14

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 133 (showing top): GOBP_MORPHOGENESIS_OF_AN_EPITHELIUM, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_EPITHELIUM_DEVELOPMENT, GOBP_REGULATION_OF_PROTEIN_POLYMERIZATION, GOBP_REGULATION_OF_MICROTUBULE_BASED_PROCESS, GOBP_NEURON_PROJECTION_EXTENSION, GOBP_TRANSITION_METAL_ION_TRANSPORT, GOBP_GROWTH, GOBP_NEUROGENESIS, GOBP_NEURAL_TUBE_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_MORPHOGENESIS_OF_EMBRYONIC_EPITHELIUM, EFC_Q6, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION

GO Biological Process (12): neural tube formation (GO:0001841), signal transduction (GO:0007165), regulation of neuron projection development (GO:0010975), intracellular monoatomic cation homeostasis (GO:0030003), regulation of microtubule polymerization (GO:0031113), zinc ion import across plasma membrane (GO:0071578), neuron projection extension (GO:1990138), monoatomic ion transport (GO:0006811), zinc ion transport (GO:0006829), bicarbonate transport (GO:0015701), metal ion transport (GO:0030001), transmembrane transport (GO:0055085)

GO Molecular Function (3): zinc ion transmembrane transporter activity (GO:0005385), monoatomic cation:bicarbonate symporter activity (GO:0140410), metal ion transmembrane transporter activity (GO:0046873)

GO Cellular Component (4): plasma membrane (GO:0005886), perinuclear region of cytoplasm (GO:0048471), extracellular vesicle (GO:1903561), membrane (GO:0016020)

GO top-level categories

Rollup of top GO terms by namespace:

CategoryTerms
transport3
cellular process2
zinc ion transmembrane transport2
cellular anatomical structure2
embryonic epithelial tube formation1
neural tube development1
cell communication1
signaling1
regulation of cellular process1
cellular response to stimulus1
neuron projection development1
regulation of plasma membrane bounded cell projection organization1
intracellular monoatomic ion homeostasis1
monoatomic cation homeostasis1
regulation of microtubule polymerization or depolymerization1
regulation of protein polymerization1
microtubule polymerization1
regulation of supramolecular fiber organization1
inorganic cation import across plasma membrane1
developmental cell growth1
neuron projection morphogenesis1
developmental growth involved in morphogenesis1
transition metal ion transport1
monoatomic cation transport1
transition metal ion transmembrane transporter activity1
bicarbonate transmembrane transporter activity1
solute:monoatomic cation symporter activity1
monoatomic cation transmembrane transporter activity1
metal ion transport1
membrane1
cell periphery1
cytoplasm1
extracellular region1
vesicle1
extracellular membrane-bounded organelle1

Protein interactions and networks

STRING

1280 interactions, top by confidence (×1000):

Protein AProtein BPartner UniProtScore
SLC39A12SLC39A11Q8N1S5775
SLC39A12SLC39A1Q9NY26736
SLC39A12SLC30A2Q9BRI3735
SLC39A12SLC30A6Q6NXT4715
SLC39A12SLC39A2Q9NP94697
SLC39A12SLC30A9Q6PML9681
SLC39A12SLC30A7Q8NEW0658
SLC39A12SLC30A4O14863656
SLC39A12SLC30A3Q99726655
SLC39A12SLC30A1Q9Y6M5653
SLC39A12SLC39A3Q9BRY0650
SLC39A12SLC30A5Q8TAD4644
SLC39A12SLC30A10Q6XR72612
SLC39A12SLC39A9Q9NUM3538
SLC39A12SLC30A8Q8IWU4521

IntAct

4 interactions, top by confidence:

ABTypeScore
SLC39A12psi-mi:“MI:0914”(association)0.350
SLC39A12GPR39psi-mi:“MI:0914”(association)0.350
SLC39A12ESYT2psi-mi:“MI:0914”(association)0.350

BioGRID (318): FXYD6 (Affinity Capture-MS), PODXL2 (Affinity Capture-MS), SELT (Affinity Capture-MS), LETMD1 (Affinity Capture-MS), GJC1 (Affinity Capture-MS), TLCD1 (Affinity Capture-MS), GOLM1 (Affinity Capture-MS), SLC35B2 (Affinity Capture-MS), HSD17B7 (Affinity Capture-MS), SQLE (Affinity Capture-MS), GJA1 (Affinity Capture-MS), ZFPL1 (Affinity Capture-MS), CUX1 (Affinity Capture-MS), ABHD12 (Affinity Capture-MS), ABHD14A (Affinity Capture-MS)

ESM2 similar proteins: A0A0G2KQY6, A0A6I8PMZ8, A0JPN2, A4IGY6, A5D7L5, A7T1N0, B3DHU2, O43868, O75899, O88871, O94402, P04919, P0DX17, P23562, P26432, P26433, P48764, P55205, Q08E40, Q0DHJ5, Q0DWA9, Q0VCH8, Q15043, Q28C60, Q4VAE3, Q504Y0, Q5FVQ0, Q5FWH7, Q5RAB7, Q5Z413, Q6DCK1, Q6L8F3, Q6PI78, Q75N73, Q78IQ7, Q80T41, Q8K596, Q8VIH3, Q8W469, Q91W10

Diamond homologs: A0A0G2KQY6, A0A6I8PMZ8, A4IGY6, A5D7H1, A5D7L5, A8WMY3, A8X482, L5KLU7, P0DX17, Q06916, Q15043, Q1KZG0, Q29175, Q2M1K6, Q31125, Q504Y0, Q5FVQ0, Q5FWH7, Q5R6I6, Q5RAB7, Q5RFD5, Q5TJF6, Q6L8F3, Q6MGB4, Q6P5F6, Q6PEH9, Q75N73, Q78IQ7, Q8AW42, Q8BZH0, Q91W10, Q92504, Q96H72, Q9C0K1, Q9M647, Q9PUB8, Q9ULF5, Q9UT11, Q9V3A4, Q9XTQ7

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

ClassificationCount (floor)
Pathogenic0
Likely pathogenic0
Uncertain significance88
Likely benign6
Benign3

Top pathogenic / likely-pathogenic (0)

SpliceAI

1997 predictions. Top by Δscore:

VariantEffectΔscore
10:17952026:G:GAdonor_loss1.0000
10:17961580:GT:Gacceptor_gain1.0000
10:17961695:G:GTdonor_gain1.0000
10:17965482:GT:Gacceptor_gain1.0000
10:17981479:GGAGA:Gdonor_gain1.0000
10:17981480:GAGA:Gdonor_gain1.0000
10:17981480:GAGAG:Gdonor_gain1.0000
10:17981481:A:Tdonor_gain1.0000
10:17981482:GA:Gdonor_gain1.0000
10:17981484:G:GGdonor_gain1.0000
10:18000656:T:TAacceptor_gain1.0000
10:18000823:TGGG:Tdonor_loss1.0000
10:18000824:GG:Gdonor_gain1.0000
10:18000825:GG:Gdonor_gain1.0000
10:18000825:GGTA:Gdonor_loss1.0000
10:18000826:G:GCdonor_loss1.0000
10:18000826:G:GGdonor_gain1.0000
10:18000827:TAAG:Tdonor_loss1.0000
10:18003162:A:AGacceptor_gain1.0000
10:18003163:A:AGacceptor_gain1.0000
10:18003164:A:AGacceptor_gain1.0000
10:18003165:C:Gacceptor_gain1.0000
10:18003167:TCA:Tacceptor_loss1.0000
10:18003169:A:AGacceptor_gain1.0000
10:18003169:AG:Aacceptor_gain1.0000
10:18003170:G:GCacceptor_gain1.0000
10:18003170:GG:Gacceptor_gain1.0000
10:18003170:GGA:Gacceptor_gain1.0000
10:18003170:GGAGA:Gacceptor_gain1.0000
10:18003328:G:Tdonor_gain1.0000

AlphaMissense

4550 scored. Top likely-pathogenic:

VariantProtein changeam_pathogenicity
10:18003236:A:CS609R0.995
10:18003238:C:AS609R0.995
10:18003238:C:GS609R0.995
10:18000753:T:CF563L0.991
10:18000755:C:AF563L0.991
10:18000755:C:GF563L0.991
10:18000711:A:CS549R0.990
10:18000713:C:AS549R0.990
10:18000713:C:GS549R0.990
10:17987490:A:CS370R0.989
10:17987492:C:AS370R0.989
10:17987492:C:GS370R0.989
10:18000736:T:CL557P0.989
10:18003332:T:CF641L0.989
10:18003334:C:AF641L0.989
10:18003334:C:GF641L0.989
10:18042783:T:AW676R0.989
10:18042783:T:CW676R0.989
10:17981396:A:CS337R0.987
10:17981398:T:AS337R0.987
10:17981398:T:GS337R0.987
10:18000733:G:AG556D0.986
10:17987610:G:TG410W0.983
10:18003257:G:AG616R0.982
10:18003257:G:CG616R0.982
10:17987610:G:AG410R0.981
10:17987610:G:CG410R0.981
10:18000801:T:CC579R0.981
10:18003174:A:CD588A0.980
10:17987611:G:AG410E0.978

dbSNP variants (sampled 300 via entrez): RS1000028503 (10:17975990 C>A,G,T), RS1000032683 (10:17977077 A>G), RS1000037821 (10:18013051 A>G), RS1000059985 (10:17983007 A>G), RS1000146801 (10:18043152 G>A,T), RS1000159365 (10:18025525 T>C), RS1000182930 (10:17992153 C>T), RS1000190286 (10:17952597 T>G), RS1000258465 (10:17982912 C>T), RS1000304815 (10:18038827 T>C), RS1000311718 (10:18020214 G>A,T), RS1000321842 (10:17971154 T>C), RS1000408466 (10:18030325 C>A), RS1000410256 (10:18020339 G>A,C,T), RS1000435934 (10:17988049 G>A)

Disease associations

OMIM: gene MIM:608734 | disease phenotypes:

GenCC curated gene-disease

DiseaseClassificationInheritance
retinitis pigmentosaLimitedAutosomal recessive

Mondo (1): retinitis pigmentosa (MONDO:0019200)

Orphanet (0):

HPO phenotypes

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

GWAS associations

8 associations (top):

StudyTraitp-value
GCST003996_25Monobrow4.000000e-09
GCST005999_25Aspartate aminotransferase levels2.000000e-19
GCST006257_3Elevated fasting plasma glucose8.000000e-07
GCST010146_32Serum immune biomarker levels2.000000e-18
GCST90002393_325Monocyte count3.000000e-09
GCST90002398_169Neutrophil count1.000000e-12
GCST90002407_88White blood cell count3.000000e-13
GCST90011899_166Aspartate aminotransferase levels4.000000e-159

EFO canonical traits (6, from GWAS)

EFO IDTrait name
EFO:0007906synophrys measurement
EFO:0004736aspartate aminotransferase measurement
EFO:0004869YKL40 measurement
EFO:0004872inflammatory biomarker measurement
EFO:0005091monocyte count
EFO:0004833neutrophil count

MeSH disease descriptors (1)

DescriptorNameTree numbers
D012174Retinitis PigmentosaC11.270.684; C11.768.585.658.500; C16.320.290.684

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

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

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: transporter — SLC39 family of metal ion transporters

CTD chemical–gene interactions

4 total (human), top 4 by PubMed support.

ChemicalActions (top 5)PubMed papers
CGP 52608affects binding, increases reaction1
Benzo(a)pyreneincreases methylation, decreases methylation1
Zincincreases transport1
Antirheumatic Agentsdecreases expression1

Clinical trials (associated diseases)

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

TrialPhaseStatusTitle
NCT00717080PHASE4COMPLETEDThe Role of Capsular Tension Ring (CTR) in Anterior Capsular Contraction
NCT00000114PHASE3COMPLETEDRandomized Trial of Vitamin A and Vitamin E Supplementation for Retinitis Pigmentosa
NCT00000116PHASE3COMPLETEDRandomized Trial of DHA for Retinitis Pigmentosa Patients Receiving Vitamin A
NCT00346333PHASE3COMPLETEDClinical Trial of Lutein for Patients With Retinitis Pigmentosa Receiving Vitamin A
NCT01786395PHASE3TERMINATEDPhase III Efficacy and Safety Clinical Study of UF-021 for Treatment of Retinitis Pigmentosa
NCT04224207PHASE3COMPLETEDManagement of Retinitis Pigmentosa by Mesenchymal Stem Cells by Wharton’s Jelly Derived Mesenchymal Stem Cells
NCT04636853PHASE3COMPLETEDCB-PRP in Retinitis Pigmentosa and Dry Age-related Macular Degeneration
NCT05537220PHASE3ACTIVE_NOT_RECRUITINGOral N-acetylcysteine for Retinitis Pigmentosa
NCT05800301PHASE3COMPLETEDManagement of Retinitis Pigmentosa Via Combination of Wharton’s Jelly-derived Mesenchymal Stem Cells and Magnovision
NCT05926583PHASE3ACTIVE_NOT_RECRUITINGA Study of AAV5-hRKp.RPGR for the Treatment of Japanese Participants With X-linked Retinitis Pigmentosa
NCT06388200PHASE3ACTIVE_NOT_RECRUITINGA Phase 3 Study Of OCU400 Gene Therapy for the Treatment Of Retinitis Pigmentosa
NCT07082855PHASE3NOT_YET_RECRUITINGA Multicenter, Randomized, Double-Blind, Controlled Clinical Study of Minocycline for the Treatment of Retinitis Pigmentosa
NCT07290530PHASE3NOT_YET_RECRUITING24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome
NCT00100230PHASE2COMPLETEDDHA and X-Linked Retinitis Pigmentosa
NCT00447980PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa
NCT00447993PHASE2COMPLETEDA Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa
NCT01233609PHASE2COMPLETEDTrial of Oral Valproic Acid for Retinitis Pigmentosa
NCT01399515PHASE2COMPLETEDEfficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa
NCT01530659PHASE2COMPLETEDRetinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa
NCT01560715PHASE2COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
NCT02609165PHASE2COMPLETEDNerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema
NCT02661711PHASE2COMPLETEDAflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study
NCT02804360PHASE2UNKNOWNIntravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study
NCT02837640PHASE2UNKNOWNStudying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa
NCT03073733PHASE2COMPLETEDSafety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa
NCT04068207PHASE2COMPLETEDMinocycline Treatment in Retinitis Pigmentosa
NCT04356716PHASE2COMPLETEDSildenafil for Treatment of Choroidal Ischemia
NCT04604899PHASE2COMPLETEDSafety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa
NCT04763369PHASE2UNKNOWNInvestigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP)
NCT04864496PHASE2UNKNOWNEffects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa
NCT04945772PHASE2COMPLETEDEfficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE]
NCT05085964PHASE2TERMINATEDAn Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa
NCT05392179PHASE2COMPLETEDA Study in Subjects With Retinitis Pigmentosa
NCT06627179PHASE2RECRUITINGStudy to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene
NCT06628947PHASE2RECRUITINGA Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa
NCT06912633PHASE2RECRUITINGSafety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP)
NCT00063765PHASE1COMPLETEDEvaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye
NCT00065455PHASE1COMPLETEDInvestigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa
NCT00458575PHASE1TERMINATEDA Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa
NCT01068561PHASE1COMPLETEDAutologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa
  • Associated diseases: retinitis pigmentosa 1
  • Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): retinitis pigmentosa