SLC39A12
geneOn this page
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
| Field | Value |
|---|---|
| HGNC ID | HGNC:20860 |
| Approved symbol | SLC39A12 |
| Name | solute carrier family 39 member 12 |
| Location | 10p12.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ30499, ZIP12 |
| Ensembl gene | ENSG00000148482 |
| Ensembl biotype | protein_coding |
| OMIM | 608734 |
| Entrez | 221074 |
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
| Exon | Start | End |
|---|---|---|
| ENSE00003843151 | 18042705 | 18043285 |
| ENSE00003845986 | 17951918 | 17952025 |
| ENSE00003889358 | 17993181 | 17993291 |
| ENSE00003889513 | 17965483 | 17965690 |
| ENSE00003890019 | 17991151 | 17991303 |
| ENSE00003891504 | 17981312 | 17981483 |
| ENSE00003891965 | 18003171 | 18003358 |
| ENSE00003892540 | 18000667 | 18000825 |
| ENSE00003893344 | 17995656 | 17995722 |
| ENSE00003894233 | 17987479 | 17987651 |
| ENSE00003894810 | 17977902 | 17978074 |
| ENSE00003894989 | 17961581 | 17961862 |
| ENSE00003895824 | 17953191 | 17953537 |
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 ID | TPM avg | Samples expressed |
|---|---|---|
| 104105 | 1.2130 | 93 |
| 104109 | 0.2940 | 49 |
| 104106 | 0.1269 | 67 |
| 104104 | 0.0641 | 32 |
| 104108 | 0.0564 | 10 |
| 104107 | 0.0090 | 6 |
| 104103 | 0.0043 | 1 |
Top tissues by expression
205 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| pigmented layer of retina | UBERON:0001782 | 99.54 | gold quality |
| secondary oocyte | CL:0000655 | 89.90 | gold quality |
| cerebellar vermis | UBERON:0004720 | 89.56 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 87.56 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 85.41 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 84.07 | gold quality |
| putamen | UBERON:0001874 | 83.83 | gold quality |
| entorhinal cortex | UBERON:0002728 | 83.42 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.16 | gold quality |
| amygdala | UBERON:0001876 | 82.81 | gold quality |
| Ammon’s horn | UBERON:0001954 | 82.79 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 82.52 | gold quality |
| temporal lobe | UBERON:0001871 | 82.35 | gold quality |
| right frontal lobe | UBERON:0002810 | 82.25 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 81.86 | gold quality |
| oocyte | CL:0000023 | 81.41 | gold quality |
| postcentral gyrus | UBERON:0002581 | 81.40 | gold quality |
| cerebral cortex | UBERON:0000956 | 80.04 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 80.02 | gold quality |
| frontal cortex | UBERON:0001870 | 79.93 | gold quality |
| neocortex | UBERON:0001950 | 79.60 | gold quality |
| nucleus accumbens | UBERON:0001882 | 79.57 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.75 | gold quality |
| substantia nigra | UBERON:0002038 | 78.71 | gold quality |
| prefrontal cortex | UBERON:0000451 | 78.68 | gold quality |
| parietal lobe | UBERON:0001872 | 78.51 | gold quality |
| corpus callosum | UBERON:0002336 | 77.75 | gold quality |
| forebrain | UBERON:0001890 | 77.68 | gold quality |
| primary visual cortex | UBERON:0002436 | 77.63 | gold quality |
| midbrain | UBERON:0001891 | 76.72 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-135922 | yes | 15.41 |
| E-GEOD-84465 | yes | 11.44 |
| E-ANND-3 | no | 0.00 |
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):
| miRNA | Max score | Avg score | miRNA target_count |
|---|---|---|---|
| HSA-MIR-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-499A-5P | 99.98 | 70.79 | 1323 |
| HSA-MIR-25-3P | 99.98 | 74.60 | 1817 |
| HSA-MIR-32-5P | 99.98 | 75.21 | 1964 |
| HSA-MIR-363-3P | 99.98 | 74.72 | 1821 |
| HSA-MIR-367-3P | 99.98 | 74.83 | 1819 |
| HSA-MIR-92A-3P | 99.98 | 75.21 | 1960 |
| HSA-MIR-92B-3P | 99.98 | 75.25 | 1955 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-5582-3P | 99.86 | 72.48 | 4221 |
| HSA-MIR-548AR-3P | 99.85 | 71.26 | 3889 |
| HSA-MIR-548AZ-3P | 99.82 | 70.56 | 3549 |
| HSA-MIR-548BC | 99.82 | 70.61 | 3524 |
| HSA-MIR-548E-3P | 99.82 | 70.59 | 3514 |
| HSA-MIR-548F-3P | 99.82 | 70.59 | 3540 |
| HSA-MIR-8080 | 99.82 | 67.52 | 1342 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-577 | 99.78 | 69.13 | 2479 |
| HSA-MIR-548A-3P | 99.76 | 70.58 | 3524 |
| HSA-MIR-586 | 99.65 | 70.40 | 2051 |
| HSA-MIR-561-3P | 99.64 | 70.90 | 3647 |
| HSA-MIR-7844-5P | 99.55 | 68.56 | 1428 |
| HSA-MIR-106A-3P | 99.53 | 67.58 | 995 |
| HSA-MIR-543 | 99.52 | 69.03 | 2595 |
| HSA-MIR-5584-5P | 99.49 | 68.22 | 2814 |
| HSA-MIR-217-5P | 99.49 | 69.93 | 1419 |
| HSA-MIR-20A-3P | 99.44 | 69.10 | 1575 |
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
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Slc39a12 | ENSMUSG00000036949 |
| rattus_norvegicus | Slc39a12 | ENSRNOG00000025639 |
| drosophila_melanogaster | Zip71B | FBGN0036461 |
| caenorhabditis_elegans | WBGENE00021936 |
Paralogs (6): SLC39A14 (ENSG00000104635), SLC39A8 (ENSG00000138821), SLC39A5 (ENSG00000139540), SLC39A6 (ENSG00000141424), SLC39A4 (ENSG00000147804), SLC39A10 (ENSG00000196950)
Protein
Protein identifiers
Zinc transporter ZIP12 — Q504Y0 (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 ID | Names | Canonical? |
|---|---|---|
| Q504Y0-1 | 1 | yes |
| Q504Y0-2 | 2 | |
| Q504Y0-3 | 3 | |
| Q504Y0-4 | 4 | |
| Q504Y0-5 | 5 |
RefSeq proteins (4): NP_001138667, NP_001269662, NP_001269663, NP_689938 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003689 | ZIP | Family |
| IPR041137 | ZIP4_N | Domain |
| IPR049406 | ZIP4_12_EF-hand | Domain |
| IPR050799 | ZIP_Transporter | Family |
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)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q504Y0-F1 | 69.45 | 0.14 |
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:
| Category | Terms |
|---|---|
| transport | 3 |
| cellular process | 2 |
| zinc ion transmembrane transport | 2 |
| cellular anatomical structure | 2 |
| embryonic epithelial tube formation | 1 |
| neural tube development | 1 |
| cell communication | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| neuron projection development | 1 |
| regulation of plasma membrane bounded cell projection organization | 1 |
| intracellular monoatomic ion homeostasis | 1 |
| monoatomic cation homeostasis | 1 |
| regulation of microtubule polymerization or depolymerization | 1 |
| regulation of protein polymerization | 1 |
| microtubule polymerization | 1 |
| regulation of supramolecular fiber organization | 1 |
| inorganic cation import across plasma membrane | 1 |
| developmental cell growth | 1 |
| neuron projection morphogenesis | 1 |
| developmental growth involved in morphogenesis | 1 |
| transition metal ion transport | 1 |
| monoatomic cation transport | 1 |
| transition metal ion transmembrane transporter activity | 1 |
| bicarbonate transmembrane transporter activity | 1 |
| solute:monoatomic cation symporter activity | 1 |
| monoatomic cation transmembrane transporter activity | 1 |
| metal ion transport | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cytoplasm | 1 |
| extracellular region | 1 |
| vesicle | 1 |
| extracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1280 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| SLC39A12 | SLC39A11 | Q8N1S5 | 775 |
| SLC39A12 | SLC39A1 | Q9NY26 | 736 |
| SLC39A12 | SLC30A2 | Q9BRI3 | 735 |
| SLC39A12 | SLC30A6 | Q6NXT4 | 715 |
| SLC39A12 | SLC39A2 | Q9NP94 | 697 |
| SLC39A12 | SLC30A9 | Q6PML9 | 681 |
| SLC39A12 | SLC30A7 | Q8NEW0 | 658 |
| SLC39A12 | SLC30A4 | O14863 | 656 |
| SLC39A12 | SLC30A3 | Q99726 | 655 |
| SLC39A12 | SLC30A1 | Q9Y6M5 | 653 |
| SLC39A12 | SLC39A3 | Q9BRY0 | 650 |
| SLC39A12 | SLC30A5 | Q8TAD4 | 644 |
| SLC39A12 | SLC30A10 | Q6XR72 | 612 |
| SLC39A12 | SLC39A9 | Q9NUM3 | 538 |
| SLC39A12 | SLC30A8 | Q8IWU4 | 521 |
IntAct
4 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| SLC39A12 | psi-mi:“MI:0914”(association) | 0.350 | |
| SLC39A12 | GPR39 | psi-mi:“MI:0914”(association) | 0.350 |
| SLC39A12 | ESYT2 | psi-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):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 88 |
| Likely benign | 6 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1997 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:17952026:G:GA | donor_loss | 1.0000 |
| 10:17961580:GT:G | acceptor_gain | 1.0000 |
| 10:17961695:G:GT | donor_gain | 1.0000 |
| 10:17965482:GT:G | acceptor_gain | 1.0000 |
| 10:17981479:GGAGA:G | donor_gain | 1.0000 |
| 10:17981480:GAGA:G | donor_gain | 1.0000 |
| 10:17981480:GAGAG:G | donor_gain | 1.0000 |
| 10:17981481:A:T | donor_gain | 1.0000 |
| 10:17981482:GA:G | donor_gain | 1.0000 |
| 10:17981484:G:GG | donor_gain | 1.0000 |
| 10:18000656:T:TA | acceptor_gain | 1.0000 |
| 10:18000823:TGGG:T | donor_loss | 1.0000 |
| 10:18000824:GG:G | donor_gain | 1.0000 |
| 10:18000825:GG:G | donor_gain | 1.0000 |
| 10:18000825:GGTA:G | donor_loss | 1.0000 |
| 10:18000826:G:GC | donor_loss | 1.0000 |
| 10:18000826:G:GG | donor_gain | 1.0000 |
| 10:18000827:TAAG:T | donor_loss | 1.0000 |
| 10:18003162:A:AG | acceptor_gain | 1.0000 |
| 10:18003163:A:AG | acceptor_gain | 1.0000 |
| 10:18003164:A:AG | acceptor_gain | 1.0000 |
| 10:18003165:C:G | acceptor_gain | 1.0000 |
| 10:18003167:TCA:T | acceptor_loss | 1.0000 |
| 10:18003169:A:AG | acceptor_gain | 1.0000 |
| 10:18003169:AG:A | acceptor_gain | 1.0000 |
| 10:18003170:G:GC | acceptor_gain | 1.0000 |
| 10:18003170:GG:G | acceptor_gain | 1.0000 |
| 10:18003170:GGA:G | acceptor_gain | 1.0000 |
| 10:18003170:GGAGA:G | acceptor_gain | 1.0000 |
| 10:18003328:G:T | donor_gain | 1.0000 |
AlphaMissense
4550 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:18003236:A:C | S609R | 0.995 |
| 10:18003238:C:A | S609R | 0.995 |
| 10:18003238:C:G | S609R | 0.995 |
| 10:18000753:T:C | F563L | 0.991 |
| 10:18000755:C:A | F563L | 0.991 |
| 10:18000755:C:G | F563L | 0.991 |
| 10:18000711:A:C | S549R | 0.990 |
| 10:18000713:C:A | S549R | 0.990 |
| 10:18000713:C:G | S549R | 0.990 |
| 10:17987490:A:C | S370R | 0.989 |
| 10:17987492:C:A | S370R | 0.989 |
| 10:17987492:C:G | S370R | 0.989 |
| 10:18000736:T:C | L557P | 0.989 |
| 10:18003332:T:C | F641L | 0.989 |
| 10:18003334:C:A | F641L | 0.989 |
| 10:18003334:C:G | F641L | 0.989 |
| 10:18042783:T:A | W676R | 0.989 |
| 10:18042783:T:C | W676R | 0.989 |
| 10:17981396:A:C | S337R | 0.987 |
| 10:17981398:T:A | S337R | 0.987 |
| 10:17981398:T:G | S337R | 0.987 |
| 10:18000733:G:A | G556D | 0.986 |
| 10:17987610:G:T | G410W | 0.983 |
| 10:18003257:G:A | G616R | 0.982 |
| 10:18003257:G:C | G616R | 0.982 |
| 10:17987610:G:A | G410R | 0.981 |
| 10:17987610:G:C | G410R | 0.981 |
| 10:18000801:T:C | C579R | 0.981 |
| 10:18003174:A:C | D588A | 0.980 |
| 10:17987611:G:A | G410E | 0.978 |
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
| Disease | Classification | Inheritance |
|---|---|---|
| retinitis pigmentosa | Limited | Autosomal 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):
| Study | Trait | p-value |
|---|---|---|
| GCST003996_25 | Monobrow | 4.000000e-09 |
| GCST005999_25 | Aspartate aminotransferase levels | 2.000000e-19 |
| GCST006257_3 | Elevated fasting plasma glucose | 8.000000e-07 |
| GCST010146_32 | Serum immune biomarker levels | 2.000000e-18 |
| GCST90002393_325 | Monocyte count | 3.000000e-09 |
| GCST90002398_169 | Neutrophil count | 1.000000e-12 |
| GCST90002407_88 | White blood cell count | 3.000000e-13 |
| GCST90011899_166 | Aspartate aminotransferase levels | 4.000000e-159 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007906 | synophrys measurement |
| EFO:0004736 | aspartate aminotransferase measurement |
| EFO:0004869 | YKL40 measurement |
| EFO:0004872 | inflammatory biomarker measurement |
| EFO:0005091 | monocyte count |
| EFO:0004833 | neutrophil count |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D012174 | Retinitis Pigmentosa | C11.270.684; 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.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| CGP 52608 | affects binding, increases reaction | 1 |
| Benzo(a)pyrene | increases methylation, decreases methylation | 1 |
| Zinc | increases transport | 1 |
| Antirheumatic Agents | decreases expression | 1 |
Clinical trials (associated diseases)
234 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 |
| 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 |
| NCT00100230 | PHASE2 | COMPLETED | DHA and X-Linked Retinitis Pigmentosa |
| NCT00447980 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Participants With Early Stage Retinitis Pigmentosa |
| NCT00447993 | PHASE2 | COMPLETED | A Study of Encapsulated Cell Technology (ECT) Implant for Patients With Late Stage Retinitis Pigmentosa |
| NCT01233609 | PHASE2 | COMPLETED | Trial of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01399515 | PHASE2 | COMPLETED | Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa |
| NCT01530659 | PHASE2 | COMPLETED | Retinal Imaging in CNTF -Releasing Encapsulated Cell Implant Treated Patients for Early-stage Retinitis Pigmentosa |
| NCT01560715 | PHASE2 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
| NCT02609165 | PHASE2 | COMPLETED | Nerve Growth Factor Eye Drops Treatment in Patients With Retinitis Pigmentosa and Cystoid Macular Edema |
| NCT02661711 | PHASE2 | COMPLETED | Aflibercept for Macular Oedema With Underlying Retinitis Pigmentosa (AMOUR) Study |
| NCT02804360 | PHASE2 | UNKNOWN | Intravitreal Dexamethasone Implant in Retinitis Pigmentosa-related Macular Edema- a Retrospective Study |
| NCT02837640 | PHASE2 | UNKNOWN | Studying a Potential Protective Effect of L-Dopa on Retinitis Pigmentosa |
| NCT03073733 | PHASE2 | COMPLETED | Safety and Efficacy of Intravitreal Injection of Human Retinal Progenitor Cells in Adults With Retinitis Pigmentosa |
| NCT04068207 | PHASE2 | COMPLETED | Minocycline Treatment in Retinitis Pigmentosa |
| NCT04356716 | PHASE2 | COMPLETED | Sildenafil for Treatment of Choroidal Ischemia |
| NCT04604899 | PHASE2 | COMPLETED | Safety of Repeat Intravitreal Injection of Human Retinal Progenitor Cells (jCell) in Adult Subjects With Retinitis Pigmentosa |
| NCT04763369 | PHASE2 | UNKNOWN | Investigation of Therapeutic Efficacy and Safety of UMSCs for the Management of Retinitis Pigmentosa (RP) |
| NCT04864496 | PHASE2 | UNKNOWN | Effects of Treatment With N- Acetylcysteine on Visual Outcomes in Patients With Retinitis Pigmentosa |
| NCT04945772 | PHASE2 | COMPLETED | Efficacy and Safety of MCO-010 Optogenetic Therapy in Adults With Retinitis Pigmentosa [RESTORE] |
| NCT05085964 | PHASE2 | TERMINATED | An Open-Label Extension Study to Evaluate Safety & Tolerability of QR-421a in Subjects With Retinitis Pigmentosa |
| NCT05392179 | PHASE2 | COMPLETED | A Study in Subjects With Retinitis Pigmentosa |
| NCT06627179 | PHASE2 | RECRUITING | Study to Evaluate Ultevursen in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene |
| NCT06628947 | PHASE2 | RECRUITING | A Phase II Study of Intravitreal KIO-301 in Patients With Late-stage Retinitis Pigmentosa |
| NCT06912633 | PHASE2 | RECRUITING | Safety of a Single, Intravitreal Injection of 6.0M jCell (Famzeretcel) in Retinitis Pigmentosa (RP) |
| NCT00063765 | PHASE1 | COMPLETED | Evaluation of Safety of Ciliary Neurotrophic Factor Implants in the Eye |
| NCT00065455 | PHASE1 | COMPLETED | Investigating the Effect of Vitamin A Supplementation on Retinitis Pigmentosa |
| NCT00458575 | PHASE1 | TERMINATED | A Study to Evaluate the Safety of CNTO 2476 in Patients With Advanced Retinitis Pigmentosa |
| NCT01068561 | PHASE1 | COMPLETED | Autologous Bone Marrow-Derived Stem Cells Transplantation For Retinitis Pigmentosa |
Related Atlas pages
- 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