RPE
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Summary
RPE (ribulose-5-phosphate-3-epimerase, HGNC:10293) is a protein-coding gene on chromosome 2q34, encoding Ribulose-phosphate 3-epimerase (Q96AT9). Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate. It is a selective cancer dependency (DepMap: 77.1% of cell lines).
Enables D-ribulose-phosphate 3-epimerase activity; metal ion binding activity; and protein homodimerization activity. Involved in carbohydrate metabolic process and pentose-phosphate shunt. Located in extracellular exosome.
Source: NCBI Gene 6120 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 27 total — 1 pathogenic
- Cancer dependency (DepMap): dependent in 77.1% of screened cell lines
- MANE Select transcript:
NM_199229
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:10293 |
| Approved symbol | RPE |
| Name | ribulose-5-phosphate-3-epimerase |
| Location | 2q34 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000197713 |
| Ensembl biotype | protein_coding |
| OMIM | 180480 |
| Entrez | 6120 |
Gene structure
Transcript identifiers
Ensembl transcripts: 20 — 19 protein_coding, 1 nonsense_mediated_decay
ENST00000354506, ENST00000359429, ENST00000408981, ENST00000411934, ENST00000429907, ENST00000429921, ENST00000435437, ENST00000436630, ENST00000438191, ENST00000438204, ENST00000438265, ENST00000441588, ENST00000445268, ENST00000452025, ENST00000453724, ENST00000454822, ENST00000867610, ENST00000867611, ENST00000924218, ENST00000924219
RefSeq mRNA: 14 — MANE Select: NM_199229
NM_001278282, NM_001278283, NM_001278285, NM_001278286, NM_001278288, NM_001278289, NM_001318926, NM_001318927, NM_001318928, NM_001318929, NM_001318930, NM_001318931, NM_006916, NM_199229
CCDS: CCDS2388, CCDS42810, CCDS63107, CCDS63108, CCDS82567, CCDS82568
Canonical transcript exons
ENST00000359429 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001582404 | 210016507 | 210016641 |
| ENSE00001583054 | 210017473 | 210017559 |
| ENSE00003528033 | 210009657 | 210009736 |
| ENSE00003674772 | 210015973 | 210016112 |
| ENSE00003843678 | 210019669 | 210022260 |
| ENSE00003848802 | 210002638 | 210002783 |
Expression profiles
Bgee: expression breadth ubiquitous, 277 present calls, max score 95.68.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 25.1881 / max 620.4743, expressed in 1812 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 25003 | 21.5733 | 1805 |
| 25002 | 3.6148 | 1579 |
Top tissues by expression
294 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| adrenal tissue | UBERON:0018303 | 95.68 | gold quality |
| islet of Langerhans | UBERON:0000006 | 92.69 | gold quality |
| calcaneal tendon | UBERON:0003701 | 92.32 | gold quality |
| colonic epithelium | UBERON:0000397 | 91.87 | gold quality |
| rectum | UBERON:0001052 | 91.74 | gold quality |
| bone marrow cell | CL:0002092 | 91.36 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 91.33 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 90.98 | gold quality |
| endothelial cell | CL:0000115 | 90.70 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 90.25 | gold quality |
| ventricular zone | UBERON:0003053 | 90.20 | gold quality |
| stromal cell of endometrium | CL:0002255 | 90.12 | gold quality |
| endometrium | UBERON:0001295 | 89.29 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 89.20 | gold quality |
| right adrenal gland | UBERON:0001233 | 89.10 | gold quality |
| gingival epithelium | UBERON:0001949 | 89.09 | gold quality |
| monocyte | CL:0000576 | 89.04 | gold quality |
| cortical plate | UBERON:0005343 | 88.88 | gold quality |
| mononuclear cell | CL:0000842 | 88.87 | gold quality |
| adrenal gland | UBERON:0002369 | 88.78 | gold quality |
| medial globus pallidus | UBERON:0002477 | 88.71 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 88.70 | gold quality |
| gall bladder | UBERON:0002110 | 88.70 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 88.69 | gold quality |
| tonsil | UBERON:0002372 | 88.68 | gold quality |
| leukocyte | CL:0000738 | 88.60 | gold quality |
| oocyte | CL:0000023 | 88.57 | gold quality |
| left adrenal gland | UBERON:0001234 | 88.56 | gold quality |
| secondary oocyte | CL:0000655 | 88.54 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.53 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.33 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
109 targeting RPE, 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-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-33A-5P | 99.99 | 68.62 | 1055 |
| HSA-MIR-33B-5P | 99.99 | 68.58 | 1062 |
| HSA-MIR-373-5P | 99.98 | 75.36 | 4753 |
| HSA-MIR-616-5P | 99.98 | 75.58 | 4775 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-548AT-5P | 99.96 | 70.83 | 2666 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-145-5P | 99.92 | 71.13 | 1836 |
| HSA-MIR-5195-3P | 99.92 | 70.92 | 1877 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-8063 | 99.91 | 69.76 | 3146 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-652-5P | 99.91 | 67.49 | 505 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-95-5P | 99.89 | 72.17 | 3973 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 77.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 1)
- The binary complexes of RPE reported here will aid in the design of small molecules for modulating the activity of the enzyme and altering flux through the pentose phosphate pathway. (PMID:20923965)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rpe | ENSDARG00000005251 |
| mus_musculus | Rpe | ENSMUSG00000026005 |
| rattus_norvegicus | Rpe | ENSRNOG00000038085 |
| drosophila_melanogaster | Rpe | FBGN0050499 |
| caenorhabditis_elegans | WBGENE00017272 |
Paralogs (1): RPEL1 (ENSG00000235376)
Protein
Protein identifiers
Ribulose-phosphate 3-epimerase — Q96AT9 (reviewed: Q96AT9)
Alternative names: Ribulose-5-phosphate-3-epimerase
All UniProt accessions (10): C9IYE8, C9IZU8, C9J6A7, C9J8S0, C9J9T0, C9JCL8, E7ESZ6, E9PBG9, Q96AT9, F8WBT4
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the reversible epimerization of D-ribulose 5-phosphate to D-xylulose 5-phosphate.
Subunit / interactions. Homodimer.
Cofactor. Binds 1 divalent metal cation per subunit. Active with Fe(2+), and probably also with Mn(2+), Zn(2+) and Co(2+).
Pathway. Carbohydrate degradation.
Similarity. Belongs to the ribulose-phosphate 3-epimerase family.
Isoforms (5)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q96AT9-1 | 1 | yes |
| Q96AT9-2 | 2 | |
| Q96AT9-3 | 3 | |
| Q96AT9-4 | 4 | |
| Q96AT9-5 | 5 |
RefSeq proteins (14): NP_001265211, NP_001265212, NP_001265214, NP_001265215, NP_001265217, NP_001265218, NP_001305855, NP_001305856, NP_001305857, NP_001305858, NP_001305859, NP_001305860, NP_008847, NP_954699* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000056 | Ribul_P_3_epim-like | Family |
| IPR011060 | RibuloseP-bd_barrel | Homologous_superfamily |
| IPR013785 | Aldolase_TIM | Homologous_superfamily |
| IPR026019 | Ribul_P_3_epim | Family |
Pfam: PF00834
Enzyme classification (BRENDA):
- EC 5.1.3.1 — ribulose-phosphate 3-epimerase (BRENDA: 21 organisms, 16 substrates, 17 inhibitors, 16 Km, 13 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| D-RIBULOSE 5-PHOSPHATE | 0.056–15 | 13 |
| D-RIBULOSE-5-PHOSPHATE | 2.4–2.9 | 2 |
| D-XYLULOSE 5-PHOSPHATE | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- D-ribulose 5-phosphate = D-xylulose 5-phosphate (RHEA:13677)
UniProt features (53 total): helix 14, binding site 9, mutagenesis site 9, strand 9, splice variant 4, active site 2, turn 2, initiator methionine 1, chain 1, modified residue 1, sequence conflict 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3OVP | X-RAY DIFFRACTION | 1.7 |
| 3OVR | X-RAY DIFFRACTION | 1.95 |
| 3OVQ | X-RAY DIFFRACTION | 2 |
| 3QC3 | X-RAY DIFFRACTION | 2.2 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96AT9-F1 | 96.61 | 0.96 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (2): 37 (proton acceptor); 175 (proton donor)
Ligand- & substrate-binding residues (9): 175–177; 175; 197–198; 10; 35; 37; 70; 70; 146–149
Post-translational modifications (1): 2
Mutagenesis-validated functional residues (9):
| Position | Phenotype |
|---|---|
| 10 | nearly abolishes enzyme activity. |
| 12 | reduces enzyme activity by half. |
| 35 | alters protein structure. nearly abolishes enzyme activity. |
| 37 | alters protein structure. nearly abolishes enzyme activity. |
| 39 | lowers enzyme activity by 10%. |
| 70 | alters protein structure. |
| 72 | reduces enzyme activity by half. |
| 141 | no effect on enzyme activity. |
| 175 | alters protein structure. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-71336 | Pentose phosphate pathway |
| R-HSA-1430728 | Metabolism |
| R-HSA-71387 | Metabolism of carbohydrates and carbohydrate derivatives |
MSigDB gene sets: 179 (showing top):
RODRIGUES_THYROID_CARCINOMA_ANAPLASTIC_UP, BROWNE_HCMV_INFECTION_6HR_DN, RODRIGUES_THYROID_CARCINOMA_POORLY_DIFFERENTIATED_UP, GOBP_NADPPLUS_METABOLIC_PROCESS, MODULE_151, GRAESSMANN_APOPTOSIS_BY_SERUM_DEPRIVATION_UP, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, IVANOVA_HEMATOPOIESIS_LATE_PROGENITOR, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, TGACCTY_ERR1_Q2, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_GLUCOSE_6_PHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_GENERATION_OF_PRECURSOR_METABOLITES_AND_ENERGY
GO Biological Process (3): carbohydrate metabolic process (GO:0005975), pentose-phosphate shunt (GO:0006098), pentose-phosphate shunt, non-oxidative branch (GO:0009052)
GO Molecular Function (7): D-ribulose-phosphate 3-epimerase activity (GO:0004750), identical protein binding (GO:0042802), protein homodimerization activity (GO:0042803), metal ion binding (GO:0046872), protein binding (GO:0005515), isomerase activity (GO:0016853), racemase and epimerase activity, acting on carbohydrates and derivatives (GO:0016857)
GO Cellular Component (2): cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
| Metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| primary metabolic process | 1 |
| NADPH regeneration | 1 |
| pentose-phosphate shunt, oxidative branch | 1 |
| pentose-phosphate shunt, non-oxidative branch | 1 |
| glucose 6-phosphate metabolic process | 1 |
| D-ribulose-phosphate 3-epimerase activity | 1 |
| ribose-5-phosphate isomerase activity | 1 |
| transaldolase activity | 1 |
| transketolase activity | 1 |
| generation of precursor metabolites and energy | 1 |
| pentose-phosphate shunt | 1 |
| glyceraldehyde-3-phosphate metabolic process | 1 |
| racemase and epimerase activity, acting on carbohydrates and derivatives | 1 |
| protein binding | 1 |
| identical protein binding | 1 |
| protein dimerization activity | 1 |
| cation binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| racemase and epimerase activity | 1 |
| cytoplasm | 1 |
| cellular anatomical structure | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
2124 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RPE | RPIA | P49247 | 895 |
| RPE | TALDO1 | P37837 | 837 |
| RPE | TKT | P29401 | 822 |
| RPE | TKTL1 | P51854 | 776 |
| RPE | TKTL2 | Q9H0I9 | 760 |
| RPE | GPI | P06744 | 760 |
| RPE | TPI1 | P00938 | 743 |
| RPE | PGD | P52209 | 738 |
| RPE | H6PD | O95479 | 725 |
| RPE | XYLB | O75191 | 718 |
| RPE | PGLS | O95336 | 686 |
| RPE | G6PD | P11413 | 630 |
| RPE | FH | P07954 | 618 |
| RPE | PGK2 | P07205 | 608 |
| RPE | RBKS | Q9H477 | 600 |
| RPE | CS | O75390 | 600 |
IntAct
19 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RPE | RPE | psi-mi:“MI:0915”(physical association) | 0.810 |
| RPE | RPE | psi-mi:“MI:0407”(direct interaction) | 0.810 |
| GCD7 | RPE | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPE | GCD7 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPE | PLEKHF2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RPE | GPX4 | psi-mi:“MI:0915”(physical association) | 0.400 |
| PRNP | CARNS1 | psi-mi:“MI:0914”(association) | 0.350 |
| M | psi-mi:“MI:0914”(association) | 0.350 | |
| RPE | APOD | psi-mi:“MI:0914”(association) | 0.350 |
| RPE | RPE | psi-mi:“MI:0915”(physical association) | 0.000 |
| PLEKHF2 | RPE | psi-mi:“MI:0915”(physical association) | 0.000 |
| RPE | serB2 | psi-mi:“MI:0915”(physical association) | 0.000 |
| EXOSC10 | RPE | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (68): RPE (Two-hybrid), CLU (Affinity Capture-MS), APOD (Affinity Capture-MS), RPE (Two-hybrid), ADSL (Co-fractionation), ALDH2 (Co-fractionation), ALDH5A1 (Co-fractionation), ALDOB (Co-fractionation), IDE (Co-fractionation), IMPA2 (Co-fractionation), MAP2K1 (Co-fractionation), MAP2K2 (Co-fractionation), NRBP1 (Co-fractionation), NUTF2 (Co-fractionation), PGK2 (Co-fractionation)
ESM2 similar proteins: A0A2P6MHY1, A7ZAH2, A8AQ28, A8B2U2, A9MPP7, B0B7Q0, B1LFP2, B7NDC5, B7UJ37, O14105, O34557, O67098, O84123, P07601, P0AG07, P0AG08, P0AG09, P0AG10, P0CE21, P32719, P42420, P44756, P45455, P46969, P56109, P56188, P57603, P74061, P77704, Q1QMP2, Q2QD12, Q3AR00, Q3MEN8, Q3SRG9, Q58093, Q5R5Y2, Q5WKY5, Q6FL81, Q755M2, Q8K940
Diamond homologs: O14105, O34557, O66107, O67098, O84123, P0AG07, P0AG08, P0AG09, P0AG10, P32719, P39362, P40117, P44756, P45455, P46969, P47358, P51012, P51013, P56188, P57603, P65761, P74061, P75522, P9WI50, P9WI51, Q04539, Q2QD12, Q43157, Q43843, Q58093, Q5R5Y2, Q6FL81, Q755M2, Q89A59, Q8K940, Q8SRP6, Q8VEE0, Q96AT9, Q9CCP9, Q9L0Z5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RPE | “down-regulates quantity” | “D-ribulose 5-phosphate” | “chemical modification” |
| RPE | “up-regulates quantity” | “D-xylulose 5-phosphate(2-)” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
27 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 1 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (1)
| Variant ID | HGVS | Classification |
|---|---|---|
| 979400 | GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1 | Pathogenic |
SpliceAI
1508 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:210002770:G:GT | donor_gain | 1.0000 |
| 2:210014610:G:GG | donor_gain | 1.0000 |
| 2:210015968:TCTA:T | acceptor_loss | 1.0000 |
| 2:210015971:A:AG | acceptor_gain | 1.0000 |
| 2:210015971:A:T | acceptor_loss | 1.0000 |
| 2:210015972:G:GT | acceptor_gain | 1.0000 |
| 2:210015972:GA:G | acceptor_gain | 1.0000 |
| 2:210015972:GAC:G | acceptor_gain | 1.0000 |
| 2:210015972:GACA:G | acceptor_gain | 1.0000 |
| 2:210015972:GACAT:G | acceptor_gain | 1.0000 |
| 2:210016109:GAAG:G | donor_gain | 1.0000 |
| 2:210016110:AAGG:A | donor_loss | 1.0000 |
| 2:210016111:AGG:A | donor_loss | 1.0000 |
| 2:210016113:G:C | donor_loss | 1.0000 |
| 2:210016114:T:A | donor_loss | 1.0000 |
| 2:210002779:G:GT | donor_gain | 0.9900 |
| 2:210016113:G:GG | donor_gain | 0.9900 |
| 2:210016500:GTTAC:G | acceptor_loss | 0.9900 |
| 2:210016501:TTACA:T | acceptor_loss | 0.9900 |
| 2:210016502:TACAG:T | acceptor_loss | 0.9900 |
| 2:210016503:ACAG:A | acceptor_loss | 0.9900 |
| 2:210016504:CAGG:C | acceptor_loss | 0.9900 |
| 2:210016505:A:AC | acceptor_loss | 0.9900 |
| 2:210016506:G:GA | acceptor_loss | 0.9900 |
| 2:210016648:G:GT | donor_gain | 0.9900 |
| 2:210009656:GGC:G | acceptor_gain | 0.9800 |
| 2:210016538:T:G | donor_gain | 0.9800 |
| 2:210016637:CAAAG:C | donor_loss | 0.9800 |
| 2:210016639:AAGGT:A | donor_loss | 0.9800 |
| 2:210016640:AG:A | donor_loss | 0.9800 |
AlphaMissense
1521 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:210002764:C:G | H35D | 1.000 |
| 2:210002771:A:T | D37V | 1.000 |
| 2:210002772:C:A | D37E | 1.000 |
| 2:210002772:C:G | D37E | 1.000 |
| 2:210002779:G:C | D40H | 1.000 |
| 2:210016050:C:G | H94D | 1.000 |
| 2:210016586:T:C | M141T | 1.000 |
| 2:210016587:G:A | M141I | 1.000 |
| 2:210016587:G:C | M141I | 1.000 |
| 2:210016587:G:T | M141I | 1.000 |
| 2:210016601:G:A | G146E | 1.000 |
| 2:210017518:G:C | D175H | 1.000 |
| 2:210017519:A:T | D175V | 1.000 |
| 2:210017520:T:A | D175E | 1.000 |
| 2:210017520:T:G | D175E | 1.000 |
| 2:210017521:G:C | G176R | 1.000 |
| 2:210017522:G:A | G176D | 1.000 |
| 2:210017522:G:T | G176V | 1.000 |
| 2:210002684:G:A | G8D | 0.999 |
| 2:210002690:C:T | S10F | 0.999 |
| 2:210002696:T:A | L12H | 0.999 |
| 2:210002696:T:C | L12P | 0.999 |
| 2:210002764:C:A | H35N | 0.999 |
| 2:210002768:T:C | L36P | 0.999 |
| 2:210002770:G:A | D37N | 0.999 |
| 2:210002770:G:C | D37H | 0.999 |
| 2:210002770:G:T | D37Y | 0.999 |
| 2:210002771:A:C | D37A | 0.999 |
| 2:210002771:A:G | D37G | 0.999 |
| 2:210002780:A:T | D40V | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000273422 (2:210017617 C>A,G,T), RS1000278047 (2:210018577 A>G), RS1000318665 (2:210005324 C>T), RS1000452015 (2:210001169 A>C), RS1000501509 (2:210016472 G>A,C), RS1000565894 (2:210017924 T>C), RS1000727111 (2:210013995 T>C), RS1000763373 (2:210013675 C>G,T), RS1000768950 (2:210010292 T>C), RS1000873459 (2:210021443 A>T), RS1000967335 (2:210022686 A>C,G), RS1001607964 (2:210011776 A>G,T), RS1001754714 (2:210005694 C>T), RS1002086917 (2:210004348 TG>T), RS1002290536 (2:210016994 C>T)
Disease associations
OMIM: gene MIM:180480 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST006249_98 | Serum metabolite levels | 2.000000e-24 |
| GCST006249_99 | Serum metabolite levels | 3.000000e-33 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs7570090 | RPE | 0.00 | 0 |
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases abundance, increases expression, decreases expression | 2 |
| bisphenol S | increases expression, increases methylation | 2 |
| Hydrogen Peroxide | affects expression, increases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression, increases expression | 1 |
| bisphenol F | increases expression | 1 |
| dicrotophos | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | decreases expression | 1 |
| sodium arsenate | decreases expression | 1 |
| cobaltous chloride | decreases expression | 1 |
| manganese chloride | increases abundance, increases expression | 1 |
| methacrylaldehyde | increases expression, affects cotreatment | 1 |
| beta-methylcholine | affects expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Acrolein | affects cotreatment, increases expression | 1 |
| Air Pollutants, Occupational | decreases expression | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Ivermectin | decreases expression | 1 |
| Manganese | increases abundance, increases expression | 1 |
| Nickel | decreases expression | 1 |
| Ozone | affects cotreatment, increases expression | 1 |
| Plant Extracts | affects cotreatment, increases expression | 1 |
| Quercetin | decreases expression | 1 |
| Valproic Acid | increases expression | 1 |
| Cadmium Chloride | increases expression | 1 |
Cellosaurus cell lines
1 cell lines: 1 transformed cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B3G6 | Abcam HEK293T RPE KO | Transformed cell line | Female |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
No linked Atlas pages yet — the cross-entity mesh grows as the corpus expands.