RBKS
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Also known as DKFZp686G13268RBSK
Summary
RBKS (ribokinase, HGNC:30325) is a protein-coding gene on chromosome 2p23.2, encoding Ribokinase (Q9H477). Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium.
This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants.
Source: NCBI Gene 64080 — RefSeq curated summary.
At a glance
- GWAS associations: 12
- Clinical variants (ClinVar): 40 total
- MANE Select transcript:
NM_022128
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30325 |
| Approved symbol | RBKS |
| Name | ribokinase |
| Location | 2p23.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp686G13268, RBSK |
| Ensembl gene | ENSG00000171174 |
| Ensembl biotype | protein_coding |
| OMIM | 611132 |
| Entrez | 64080 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding, 2 nonsense_mediated_decay
ENST00000302188, ENST00000449378, ENST00000453412, ENST00000458185, ENST00000861376, ENST00000861377
RefSeq mRNA: 2 — MANE Select: NM_022128
NM_001287580, NM_022128
CCDS: CCDS1762
Canonical transcript exons
ENST00000302188 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001260853 | 27781379 | 27781788 |
| ENSE00001260860 | 27890257 | 27890387 |
| ENSE00003530674 | 27832686 | 27832777 |
| ENSE00003531362 | 27858439 | 27858571 |
| ENSE00003570329 | 27843067 | 27843231 |
| ENSE00003601136 | 27827567 | 27827755 |
| ENSE00003607822 | 27848034 | 27848097 |
| ENSE00003608648 | 27847042 | 27847104 |
Expression profiles
Bgee: expression breadth ubiquitous, 248 present calls, max score 93.99.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 4.2606 / max 156.7750, expressed in 1501 samples.
FANTOM5 promoters (5 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 27538 | 3.5905 | 1418 |
| 27540 | 0.4339 | 144 |
| 27539 | 0.1262 | 52 |
| 27537 | 0.0723 | 12 |
| 202129 | 0.0377 | 8 |
Top tissues by expression
280 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| jejunal mucosa | UBERON:0000399 | 93.99 | gold quality |
| nephron tubule | UBERON:0001231 | 93.13 | gold quality |
| bronchial epithelial cell | CL:0002328 | 93.10 | gold quality |
| right adrenal gland | UBERON:0001233 | 92.78 | gold quality |
| left adrenal gland | UBERON:0001234 | 92.71 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 92.68 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 92.07 | gold quality |
| epithelium of bronchus | UBERON:0002031 | 91.35 | gold quality |
| adrenal cortex | UBERON:0001235 | 91.27 | gold quality |
| duodenum | UBERON:0002114 | 90.64 | gold quality |
| bronchus | UBERON:0002185 | 90.22 | gold quality |
| adrenal gland | UBERON:0002369 | 90.13 | gold quality |
| kidney epithelium | UBERON:0004819 | 89.96 | gold quality |
| right uterine tube | UBERON:0001302 | 89.89 | gold quality |
| right lobe of liver | UBERON:0001114 | 89.79 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 89.34 | gold quality |
| liver | UBERON:0002107 | 89.06 | gold quality |
| renal glomerulus | UBERON:0000074 | 88.66 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 88.63 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 88.16 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.06 | gold quality |
| kidney | UBERON:0002113 | 86.37 | gold quality |
| amniotic fluid | UBERON:0000173 | 85.79 | gold quality |
| cortex of kidney | UBERON:0001225 | 85.70 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 85.21 | gold quality |
| endothelial cell | CL:0000115 | 85.06 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 84.93 | gold quality |
| pituitary gland | UBERON:0000007 | 84.92 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.79 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.51 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.93 |
| E-MTAB-7303 | no | 120.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
32 targeting RBKS, 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-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-1250-3P | 99.96 | 70.04 | 4038 |
| HSA-MIR-6744-5P | 99.93 | 66.82 | 748 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-576-5P | 99.84 | 70.46 | 2582 |
| HSA-MIR-548AJ-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548F-5P | 99.78 | 71.02 | 3093 |
| HSA-MIR-548G-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-548X-5P | 99.78 | 71.12 | 3085 |
| HSA-MIR-6764-5P | 99.75 | 67.89 | 2304 |
| HSA-MIR-518A-5P | 99.70 | 69.01 | 2209 |
| HSA-MIR-527 | 99.70 | 69.01 | 2209 |
| HSA-MIR-2113 | 99.58 | 71.22 | 1521 |
| HSA-MIR-1915-3P | 99.58 | 66.79 | 1988 |
| HSA-MIR-105-5P | 99.54 | 69.24 | 2060 |
| HSA-MIR-7853-5P | 99.54 | 69.30 | 2055 |
| HSA-MIR-511-5P | 98.97 | 70.94 | 2268 |
| HSA-MIR-655-5P | 98.74 | 65.93 | 888 |
| HSA-MIR-6840-3P | 98.68 | 65.95 | 1923 |
| HSA-MIR-5011-3P | 98.63 | 64.81 | 638 |
| HSA-MIR-4726-3P | 98.49 | 63.89 | 1385 |
| HSA-MIR-4511 | 98.32 | 67.97 | 1500 |
| HSA-MIR-7843-3P | 98.31 | 67.94 | 803 |
| HSA-MIR-3129-3P | 97.85 | 67.63 | 1246 |
| HSA-MIR-5583-5P | 97.85 | 67.61 | 1243 |
| HSA-MIR-15B-3P | 97.85 | 66.68 | 974 |
| HSA-MIR-127-5P | 97.78 | 67.64 | 869 |
| HSA-MIR-3131 | 95.33 | 65.74 | 102 |
Literature-anchored findings (GeneRIF, showing 2)
- Identification and characterization of human ribokinase. (PMID:17585908)
- Asn199 and Glu202 play an important role in the regulation of human ribokinase activity. (PMID:25749547)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rbks | ENSDARG00000019877 |
| mus_musculus | Rbks | ENSMUSG00000029136 |
| rattus_norvegicus | Rbks | ENSRNOG00000004710 |
| drosophila_melanogaster | CG13369 | FBGN0025640 |
| drosophila_melanogaster | CG17010 | FBGN0032424 |
| caenorhabditis_elegans | WBGENE00008548 |
Paralogs (3): KHK (ENSG00000138030), ADK (ENSG00000156110), TMEM256 (ENSG00000205544)
Protein
Protein identifiers
Ribokinase — Q9H477 (reviewed: Q9H477)
All UniProt accessions (4): E7EQ18, E9PBU0, Q9H477, H7C091
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the phosphorylation of ribose at O-5 in a reaction requiring ATP and magnesium. The resulting D-ribose-5-phosphate can then be used either for sythesis of nucleotides, histidine, and tryptophan, or as a component of the pentose phosphate pathway.
Subunit / interactions. Homodimer.
Subcellular location. Cytoplasm. Nucleus.
Activity regulation. Activated by a monovalent cation that binds near, but not in, the active site. The most likely occupant of the site in vivo is potassium. Ion binding induces a conformational change that may alter substrate affinity. Competitively inhibited by phosphonoacetic acid, etidronate, 2-carboxethylphosphonic acid, N-(phosphonomethyl)glycine, N-(phosphonomethyl)iminodiacetic acid and clodronate.
Cofactor. Requires a divalent cation, most likely magnesium in vivo, as an electrophilic catalyst to aid phosphoryl group transfer. It is the chelate of the metal and the nucleotide that is the actual substrate.
Pathway. Carbohydrate metabolism; D-ribose degradation; D-ribose 5-phosphate from beta-D-ribopyranose: step 2/2.
Similarity. Belongs to the carbohydrate kinase PfkB family. Ribokinase subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9H477-1 | 1 | yes |
| Q9H477-2 | 2 |
RefSeq proteins (2): NP_001274509, NP_071411* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002139 | Ribo/fructo_kinase | Family |
| IPR002173 | Carboh/pur_kinase_PfkB_CS | Conserved_site |
| IPR011611 | PfkB_dom | Domain |
| IPR011877 | Ribokinase | Family |
| IPR029056 | Ribokinase-like | Homologous_superfamily |
Pfam: PF00294
Enzyme classification (BRENDA):
- EC 2.7.1.15 — ribokinase (BRENDA: 22 organisms, 28 substrates, 30 inhibitors, 41 Km, 15 kcat entries)
Substrate kinetics (BRENDA)
4 substrates with measured Km, best-characterized 4. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| D-RIBOSE | 0.022–2 | 22 |
| ATP | 0.029–7.48 | 14 |
| 2-DEOXY-D-RIBOSE | 0.035–1.8 | 4 |
| 2-DEOXY-D-RIBITOL | 33.3 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- D-ribose + ATP = D-ribose 5-phosphate + ADP + H(+) (RHEA:13697)
UniProt features (51 total): strand 16, binding site 15, helix 15, chain 1, active site 1, splice variant 1, sequence conflict 1, turn 1
Structure
Experimental structures (PDB)
14 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9CVB | X-RAY DIFFRACTION | 1.45 |
| 9CWU | X-RAY DIFFRACTION | 1.45 |
| 5C40 | X-RAY DIFFRACTION | 1.5 |
| 9CVA | X-RAY DIFFRACTION | 1.6 |
| 5BYE | X-RAY DIFFRACTION | 1.75 |
| 6WJZ | X-RAY DIFFRACTION | 1.8 |
| 5C3Z | X-RAY DIFFRACTION | 1.9 |
| 5BYC | X-RAY DIFFRACTION | 1.95 |
| 5C41 | X-RAY DIFFRACTION | 1.95 |
| 5BYF | X-RAY DIFFRACTION | 2 |
| 6WK0 | X-RAY DIFFRACTION | 2 |
| 2FV7 | X-RAY DIFFRACTION | 2.1 |
| 5BYD | X-RAY DIFFRACTION | 2.1 |
| 5C3Y | X-RAY DIFFRACTION | 2.6 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9H477-F1 | 94.83 | 0.95 |
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 (1): 269 (proton acceptor)
Ligand- & substrate-binding residues (15): 268–269; 269; 295; 301; 304; 306; 310; 25–27; 53–57; 154; 199; 235–240 …
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-71336 | Pentose phosphate pathway |
MSigDB gene sets: 175 (showing top):
ATF_B, MULLIGHAN_NPM1_SIGNATURE_3_UP, GOBP_NADPPLUS_METABOLIC_PROCESS, GOBP_MONOSACCHARIDE_CATABOLIC_PROCESS, GOBP_CARBOHYDRATE_PHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, LUCAS_HNF4A_TARGETS_UP, 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, ROSS_LEUKEMIA_WITH_MLL_FUSIONS, ATF1_Q6, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, LASTOWSKA_COAMPLIFIED_WITH_MYCN
GO Biological Process (6): pentose-phosphate shunt (GO:0006098), D-ribose catabolic process (GO:0019303), D-ribose metabolic process (GO:0006014), phosphate-containing compound metabolic process (GO:0006796), small molecule metabolic process (GO:0044281), carbohydrate phosphorylation (GO:0046835)
GO Molecular Function (8): ribokinase activity (GO:0004747), ATP binding (GO:0005524), identical protein binding (GO:0042802), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740)
GO Cellular Component (3): nucleus (GO:0005634), cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of carbohydrates and carbohydrate derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| metabolic process | 2 |
| cellular anatomical structure | 2 |
| NADPH regeneration | 1 |
| pentose-phosphate shunt, oxidative branch | 1 |
| pentose-phosphate shunt, non-oxidative branch | 1 |
| glucose 6-phosphate metabolic process | 1 |
| D-ribose metabolic process | 1 |
| pentose catabolic process | 1 |
| pentose metabolic process | 1 |
| carbohydrate metabolic process | 1 |
| phosphorylation | 1 |
| phosphotransferase activity, alcohol group as acceptor | 1 |
| carbohydrate kinase activity | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| transferase activity, transferring phosphorus-containing groups | 1 |
| catalytic activity | 1 |
| intracellular membrane-bounded organelle | 1 |
| intracellular anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
2052 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RBKS | RPIA | P49247 | 704 |
| RBKS | MGAM | O43451 | 702 |
| RBKS | SI | P14410 | 673 |
| RBKS | CSDC2 | Q9Y534 | 654 |
| RBKS | RPE | Q96AT9 | 600 |
| RBKS | TALDO1 | P37837 | 594 |
| RBKS | H6PD | O95479 | 593 |
| RBKS | DERA | Q9Y315 | 593 |
| RBKS | ADK | P55263 | 591 |
| RBKS | XYLB | O75191 | 577 |
| RBKS | GALE | Q14376 | 577 |
| RBKS | ADSL | P30566 | 572 |
| RBKS | PRPS1L1 | P21108 | 566 |
| RBKS | TKT | P29401 | 566 |
| RBKS | PGD | P52209 | 556 |
IntAct
17 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RBKS | RBKS | psi-mi:“MI:0915”(physical association) | 0.670 |
| RBKS | NSF | psi-mi:“MI:0915”(physical association) | 0.560 |
| GPR173 | CBX6 | psi-mi:“MI:0914”(association) | 0.560 |
| RBKS | NSF | psi-mi:“MI:0914”(association) | 0.560 |
| RBKS | ACD | psi-mi:“MI:0915”(physical association) | 0.510 |
| POT1 | RBKS | psi-mi:“MI:0915”(physical association) | 0.370 |
| Kctd5 | psi-mi:“MI:0914”(association) | 0.350 | |
| Hax1 | DERL1 | psi-mi:“MI:0914”(association) | 0.350 |
| Magoh | TRAPPC13 | psi-mi:“MI:0914”(association) | 0.350 |
| ATL3 | SNX14 | psi-mi:“MI:0914”(association) | 0.350 |
| NEK4 | E2F8 | psi-mi:“MI:0914”(association) | 0.350 |
| RBKS | RPS4Y1 | psi-mi:“MI:0914”(association) | 0.350 |
| ACD | RBKS | psi-mi:“MI:0915”(physical association) | 0.000 |
| RBKS | RBKS | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (26): NSF (Affinity Capture-MS), ZADH2 (Affinity Capture-MS), PHPT1 (Co-fractionation), RPE (Co-fractionation), RBKS (Affinity Capture-MS), RBKS (Affinity Capture-MS), RBKS (Affinity Capture-MS), RBKS (Affinity Capture-MS), NSF (Affinity Capture-MS), RBKS (Two-hybrid), RBKS (Affinity Capture-MS), RPS4Y1 (Affinity Capture-MS), RBKS (Affinity Capture-MS), ZADH2 (Affinity Capture-MS), NAPA (Affinity Capture-MS)
ESM2 similar proteins: A0A6N3IN21, A3KCL7, A6QQF5, B0BNC9, O35678, O75911, O77769, O88876, O97764, P00333, P05336, P11415, P14673, P14674, P14675, P17648, P28032, P47199, P50336, Q08257, Q0MVN8, Q0P5F9, Q28452, Q28GQ2, Q2R8Z5, Q3MIE4, Q3UGR5, Q3UNZ8, Q5BJJ5, Q5R4B4, Q5R4S7, Q60HD5, Q62465, Q6AYR6, Q6AYT0, Q75ZX4, Q80TB8, Q8LEB2, Q8R1Q9, Q8R238
Diamond homologs: A0A0H2WZY4, A1A6H3, B5EEZ1, E9AD19, O60116, P0A9J6, P0A9J7, P0DX97, P36945, P44331, P83534, Q54UQ4, Q55EK9, Q7CPF5, Q8R1Q9, Q9CF42, Q9H477, Q9K6K1, A7GZF6, A7H2L7, A8FMK8, O14242, O49923, P0AEW9, P0AEX0, P0AEX1, P0AEX2, Q5HTW1, Q5JEK6, Q6TG09, Q9SX54, P25332, P45416, A1RGD1, A2WXV8, A4Y9Z9, A4YYB6, A5EN78, A5W9W6, A6VDB5
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| RBKS | “down-regulates quantity” | D-ribofuranose | “chemical modification” |
| RBKS | “up-regulates quantity” | “D-ribofuranose 5-phosphate(2-)” | “chemical modification” |
Disease & clinical
Clinical variants and AI predictions
ClinVar
40 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2263 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:27781666:T:TA | donor_gain | 1.0000 |
| 2:27781685:A:AC | donor_gain | 1.0000 |
| 2:27781686:C:CC | donor_gain | 1.0000 |
| 2:27781686:CTG:C | donor_gain | 1.0000 |
| 2:27827565:A:AC | donor_gain | 1.0000 |
| 2:27827566:C:CC | donor_gain | 1.0000 |
| 2:27827752:CAGC:C | acceptor_gain | 1.0000 |
| 2:27827756:C:CC | acceptor_gain | 1.0000 |
| 2:27832680:CCTTA:C | donor_loss | 1.0000 |
| 2:27832681:CTTAC:C | donor_loss | 1.0000 |
| 2:27832683:TACCT:T | donor_loss | 1.0000 |
| 2:27832685:CCTCA:C | donor_gain | 1.0000 |
| 2:27832773:TTTCA:T | acceptor_gain | 1.0000 |
| 2:27832774:TTCA:T | acceptor_gain | 1.0000 |
| 2:27832775:TCA:T | acceptor_gain | 1.0000 |
| 2:27832776:CA:C | acceptor_gain | 1.0000 |
| 2:27832776:CAC:C | acceptor_gain | 1.0000 |
| 2:27832776:CACTA:C | acceptor_loss | 1.0000 |
| 2:27832778:C:CC | acceptor_gain | 1.0000 |
| 2:27832781:C:CT | acceptor_gain | 1.0000 |
| 2:27843062:ATTAC:A | donor_loss | 1.0000 |
| 2:27843063:TTAC:T | donor_loss | 1.0000 |
| 2:27843064:TA:T | donor_loss | 1.0000 |
| 2:27843065:A:AT | donor_loss | 1.0000 |
| 2:27843227:CTGGC:C | acceptor_gain | 1.0000 |
| 2:27847037:CTTA:C | donor_loss | 1.0000 |
| 2:27847038:TTA:T | donor_loss | 1.0000 |
| 2:27847039:TA:T | donor_loss | 1.0000 |
| 2:27847040:A:AC | donor_gain | 1.0000 |
| 2:27847040:AC:A | donor_gain | 1.0000 |
AlphaMissense
2093 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:27781778:T:A | D269V | 0.999 |
| 2:27858500:T:A | K54I | 0.999 |
| 2:27781778:T:G | D269A | 0.998 |
| 2:27781778:T:C | D269G | 0.997 |
| 2:27781779:C:G | D269H | 0.997 |
| 2:27847059:A:T | I111K | 0.997 |
| 2:27858470:C:G | R64P | 0.997 |
| 2:27858499:T:A | K54N | 0.997 |
| 2:27858499:T:G | K54N | 0.997 |
| 2:27781774:G:C | S270R | 0.996 |
| 2:27781774:G:T | S270R | 0.996 |
| 2:27781776:T:G | S270R | 0.996 |
| 2:27781777:G:C | D269E | 0.996 |
| 2:27781777:G:T | D269E | 0.996 |
| 2:27847065:G:T | A109D | 0.995 |
| 2:27858500:T:G | K54T | 0.995 |
| 2:27858501:T:G | K54Q | 0.995 |
| 2:27890263:A:G | L28P | 0.995 |
| 2:27827755:C:G | A203P | 0.994 |
| 2:27847059:A:C | I111R | 0.993 |
| 2:27858484:A:C | C59W | 0.993 |
| 2:27858490:G:C | N57K | 0.993 |
| 2:27858490:G:T | N57K | 0.993 |
| 2:27858506:C:T | G52E | 0.993 |
| 2:27781766:C:T | G273E | 0.992 |
| 2:27781787:C:T | G266D | 0.992 |
| 2:27843224:A:C | N119K | 0.992 |
| 2:27843224:A:T | N119K | 0.992 |
| 2:27848078:C:T | G81D | 0.992 |
| 2:27858501:T:C | K54E | 0.992 |
dbSNP variants (sampled 300 via entrez): RS1000005908 (2:27855259 G>A), RS1000021092 (2:27834215 C>T), RS1000021341 (2:27783714 C>A,G,T), RS1000070815 (2:27831821 G>A), RS1000119720 (2:27812425 T>C), RS1000139319 (2:27857313 A>G), RS1000145104 (2:27877676 T>A), RS1000150176 (2:27891731 C>T), RS1000186332 (2:27790829 C>A), RS1000186991 (2:27856996 T>C,G), RS1000195149 (2:27812794 C>T), RS1000239653 (2:27862543 T>C), RS1000255600 (2:27802656 C>T), RS1000264239 (2:27849277 T>G), RS1000355318 (2:27869508 C>T)
Disease associations
OMIM: gene MIM:611132 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
12 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003048_130 | Schizophrenia | 4.000000e-08 |
| GCST004946_111 | Schizophrenia | 3.000000e-08 |
| GCST005986_3 | Blood urea nitrogen levels | 4.000000e-08 |
| GCST005994_18 | Hematocrit | 8.000000e-09 |
| GCST006409_8 | Allergic rhinitis | 7.000000e-13 |
| GCST006479_145 | Diverticular disease | 5.000000e-08 |
| GCST007201_17 | Schizophrenia | 5.000000e-08 |
| GCST007201_340 | Schizophrenia | 1.000000e-06 |
| GCST008062_78 | Blood urea nitrogen levels | 5.000000e-13 |
| GCST008103_38 | Bipolar disorder | 1.000000e-07 |
| GCST009391_1338 | Metabolite levels | 3.000000e-06 |
| GCST009600_107 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 8.000000e-09 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004348 | hematocrit |
| EFO:0009959 | diverticular disease |
| EFO:0010362 | lysophosphatidylcholine 20:3 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Air Pollutants | increases expression, decreases expression, affects expression, increases abundance | 5 |
| Benzo(a)pyrene | decreases expression, increases expression | 4 |
| Aflatoxin B1 | decreases expression, decreases methylation, affects expression | 3 |
| bisphenol A | decreases expression, decreases methylation | 2 |
| Acetaminophen | decreases expression | 2 |
| Smoke | decreases expression, increases abundance, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| quercitrin | decreases expression | 1 |
| tris(2-butoxyethyl) phosphate | affects expression | 1 |
| afimoxifene | decreases response to substance | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| dinophysistoxin 1 | decreases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| abrine | increases expression | 1 |
| bisphenol AF | decreases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Sunitinib | increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Coal | decreases expression, increases abundance | 1 |
| Estradiol | decreases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Ozone | affects expression, increases abundance | 1 |
| Quercetin | decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Urethane | decreases expression | 1 |
| Isotretinoin | decreases expression | 1 |
Cellosaurus cell lines
5 cell lines: 5 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_E0WQ | Ubigene K-562 RBKS KO | Cancer cell line | Female |
| CVCL_TI63 | HAP1 RBKS (-) 1 | Cancer cell line | Male |
| CVCL_XS15 | HAP1 RBKS (-) 2 | Cancer cell line | Male |
| CVCL_XS16 | HAP1 RBKS (-) 3 | Cancer cell line | Male |
| CVCL_XS17 | HAP1 RBKS (-) 4 | Cancer cell line | Male |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): allergic rhinitis