NMRK1
gene geneOn this page
Also known as FLJ20559NRK1bA235O14.2
Summary
NMRK1 (nicotinamide riboside kinase 1, HGNC:26057) is a protein-coding gene on chromosome 9q21.13, encoding Nicotinamide riboside kinase 1 (Q9NWW6). Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN).
Nicotinamide adenine dinucleotide (NAD+) is essential for life in all organisms, both as a coenzyme for oxidoreductases and as a source of ADP-ribosyl groups used in various reactions. Nicotinic acid and nicotinamide, collectively known as niacin, are the vitamin precursors of NAD+. Nicotinamide riboside kinases, such as NRK1, function to synthesize NAD+ through nicotinamide mononucleotide using nicotinamide riboside as the precursor (Bieganowski and Brenner, 2004 [PubMed 15137942]).
Source: NCBI Gene 54981 — RefSeq curated summary.
At a glance
- Gene–disease (curated): Tourette syndrome (No Known Disease Relationship, GenCC)
- GWAS associations: 3
- Clinical variants (ClinVar): 45 total
- MANE Select transcript:
NM_017881
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:26057 |
| Approved symbol | NMRK1 |
| Name | nicotinamide riboside kinase 1 |
| Location | 9q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ20559, NRK1, bA235O14.2 |
| Ensembl gene | ENSG00000106733 |
| Ensembl biotype | protein_coding |
| OMIM | 608704 |
| Entrez | 54981 |
Gene structure
Transcript identifiers
Ensembl transcripts: 24 — 20 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay
ENST00000361092, ENST00000376808, ENST00000376811, ENST00000466137, ENST00000482537, ENST00000490321, ENST00000494066, ENST00000908060, ENST00000908061, ENST00000908062, ENST00000908063, ENST00000908064, ENST00000908065, ENST00000908066, ENST00000908067, ENST00000908068, ENST00000915913, ENST00000915914, ENST00000957188, ENST00000957189, ENST00000957190, ENST00000957191, ENST00000957192, ENST00000957193
RefSeq mRNA: 4 — MANE Select: NM_017881
NM_001127603, NM_001330678, NM_001330679, NM_017881
CCDS: CCDS47981, CCDS6650, CCDS83374
Canonical transcript exons
ENST00000361092 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000707110 | 75068996 | 75069102 |
| ENSE00000707111 | 75069742 | 75069813 |
| ENSE00000707131 | 75069895 | 75070042 |
| ENSE00000707162 | 75077159 | 75077207 |
| ENSE00000803844 | 75077490 | 75077580 |
| ENSE00003551150 | 75083087 | 75083150 |
| ENSE00003688244 | 75066757 | 75066840 |
| ENSE00003842193 | 75060577 | 75061567 |
| ENSE00003847471 | 75088008 | 75088155 |
Expression profiles
Bgee: expression breadth ubiquitous, 286 present calls, max score 97.25.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 11.9528 / max 101.6328, expressed in 1757 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101027 | 7.9519 | 1664 |
| 101028 | 4.0010 | 1474 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cervix squamous epithelium | UBERON:0006922 | 97.25 | gold quality |
| parotid gland | UBERON:0001831 | 97.19 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 97.16 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 97.14 | gold quality |
| body of pancreas | UBERON:0001150 | 96.37 | gold quality |
| epithelium of esophagus | UBERON:0001976 | 96.23 | gold quality |
| squamous epithelium | UBERON:0006914 | 95.74 | gold quality |
| esophagus mucosa | UBERON:0002469 | 95.02 | gold quality |
| jejunal mucosa | UBERON:0000399 | 94.78 | gold quality |
| pharyngeal mucosa | UBERON:0000355 | 94.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 94.61 | gold quality |
| oral cavity | UBERON:0000167 | 94.58 | gold quality |
| right uterine tube | UBERON:0001302 | 94.51 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.46 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.36 | gold quality |
| mucosa of paranasal sinus | UBERON:0005030 | 94.14 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.04 | gold quality |
| nephron tubule | UBERON:0001231 | 93.95 | gold quality |
| trachea | UBERON:0003126 | 93.91 | gold quality |
| superior surface of tongue | UBERON:0007371 | 93.90 | gold quality |
| tibia | UBERON:0000979 | 93.87 | gold quality |
| cerebellum | UBERON:0002037 | 93.86 | gold quality |
| jejunum | UBERON:0002115 | 93.79 | gold quality |
| pancreas | UBERON:0001264 | 93.77 | gold quality |
| saliva-secreting gland | UBERON:0001044 | 93.68 | gold quality |
| right lobe of thyroid gland | UBERON:0001119 | 93.68 | gold quality |
| cardia of stomach | UBERON:0001162 | 93.62 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 93.57 | gold quality |
| cervix epithelium | UBERON:0004801 | 93.44 | gold quality |
| thyroid gland | UBERON:0002046 | 93.43 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 8.63 |
| E-MTAB-6058 | no | 77.13 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
13 targeting NMRK1, 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-4425 | 100.00 | 67.59 | 1049 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-3925-3P | 100.00 | 69.95 | 1237 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-551B-5P | 99.96 | 71.28 | 3493 |
| HSA-MIR-5580-3P | 99.70 | 69.41 | 2052 |
| HSA-MIR-140-3P | 99.04 | 67.69 | 1324 |
| HSA-MIR-4289 | 98.26 | 66.90 | 810 |
| HSA-MIR-3670 | 97.88 | 64.39 | 763 |
| HSA-MIR-6748-3P | 97.20 | 65.66 | 836 |
| HSA-MIR-345-5P | 96.40 | 66.43 | 663 |
| HSA-MIR-550B-3P | 95.43 | 67.73 | 599 |
| HSA-MIR-3622B-5P | 94.62 | 64.58 | 835 |
Literature-anchored findings (GeneRIF, showing 2)
- Crystal structure of NRK1 is reported. (PMID:17698003)
- nicotinamide riboside kinase 1 (NRK1) is necessary and rate-limiting for the use of exogenous nicotinamide riboside and nicotinamide mononucleotide for NAD(+) synthesis. (PMID:27725675)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | nmrk1 | ENSDARG00000037913 |
| mus_musculus | Nmrk1 | ENSMUSG00000037847 |
| rattus_norvegicus | Nmrk1 | ENSRNOG00000012665 |
| drosophila_melanogaster | CG12016 | FBGN0035436 |
Paralogs (3): NMRK2 (ENSG00000077009), MBIP (ENSG00000151332), MOCS2 (ENSG00000164172)
Protein
Protein identifiers
Nicotinamide riboside kinase 1 — Q9NWW6 (reviewed: Q9NWW6)
Alternative names: Nicotinic acid riboside kinase 1, Ribosylnicotinamide kinase 1, Ribosylnicotinic acid kinase 1
All UniProt accessions (3): Q9NWW6, B3KN26, Q5W125
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the phosphorylation of nicotinamide riboside (NR) and nicotinic acid riboside (NaR) to form nicotinamide mononucleotide (NMN) and nicotinic acid mononucleotide (NaMN). The enzyme also phosphorylates the antitumor drugs tiazofurin and 3-deazaguanosine.
Subunit / interactions. Monomer.
Pathway. Cofactor biosynthesis; NAD(+) biosynthesis.
Similarity. Belongs to the uridine kinase family. NRK subfamily.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9NWW6-1 | 1 | yes |
| Q9NWW6-2 | 2 |
RefSeq proteins (4): NP_001121075, NP_001317607, NP_001317608, NP_060351* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF13238
Enzyme classification (BRENDA):
- EC 2.7.1.173 — nicotinate riboside kinase (BRENDA: 3 organisms, 22 substrates, 0 inhibitors, 14 Km, 14 kcat entries)
- EC 2.7.1.22 — ribosylnicotinamide kinase (BRENDA: 8 organisms, 14 substrates, 1 inhibitors, 9 Km, 5 kcat entries)
Substrate kinetics (BRENDA)
11 substrates with measured Km, best-characterized 11. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| BETA-D-RIBOSYLNICOTINATE | 0.051–30 | 6 |
| 1-(BETA-D-RIBOFURANOSYL)-NICOTINAMIDE | 0.068–30 | 4 |
| BETA-D-RIBOSYLNICOTINAMIDE | 0.051–0.063 | 2 |
| CYTIDINE | 15–30 | 2 |
| TIAZOFURIN | 0.11–0.27 | 2 |
| URIDINE | 1.3–17 | 2 |
| ATP | 1.2 | 1 |
| N-RIBOSYLNICOTINAMIDE | 0.08 | 1 |
| NICOTINAMIDE MONONUCLEOTIDE | 0.14 | 1 |
| NICOTINAMIDE RIBOSIDE | 1.1 | 1 |
| PHOSPHATE | 0.28 | 1 |
Catalyzed reactions (Rhea), 2 shown:
- beta-nicotinamide D-riboside + ATP = beta-nicotinamide D-ribonucleotide + ADP + H(+) (RHEA:14017)
- beta-D-ribosylnicotinate + ATP = nicotinate beta-D-ribonucleotide + ADP + H(+) (RHEA:25568)
UniProt features (36 total): helix 11, binding site 10, mutagenesis site 5, strand 5, turn 2, chain 1, active site 1, splice variant 1
Structure
Experimental structures (PDB)
7 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2QT1 | X-RAY DIFFRACTION | 1.32 |
| 2QG6 | X-RAY DIFFRACTION | 1.5 |
| 2P0E | X-RAY DIFFRACTION | 1.8 |
| 2QSZ | X-RAY DIFFRACTION | 1.9 |
| 2QT0 | X-RAY DIFFRACTION | 1.92 |
| 2QSY | X-RAY DIFFRACTION | 1.95 |
| 2QL6 | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NWW6-F1 | 94.06 | 0.87 |
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): 36 (proton acceptor)
Ligand- & substrate-binding residues (10): 134–135; 172–174; 10–18; 17; 36–39; 36; 55–56; 128; 129; 132–134
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 16 | loss of activity. |
| 36 | loss of activity. |
| 56 | loss of activity. |
| 98 | loss of activity. |
| 138 | almost no effect. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-196807 | Nicotinate metabolism |
MSigDB gene sets: 150 (showing top):
GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, LINDGREN_BLADDER_CANCER_CLUSTER_3_DN, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_PURINE_CONTAINING_COMPOUND_SALVAGE, GOBP_NADPLUS_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, DAVICIONI_RHABDOMYOSARCOMA_PAX_FOXO1_FUSION_UP, RICKMAN_METASTASIS_DN, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, GOZGIT_ESR1_TARGETS_UP, GOBP_ORGANIC_ACID_METABOLIC_PROCESS, NAKAMURA_TUMOR_ZONE_PERIPHERAL_VS_CENTRAL_DN
GO Biological Process (8): NADP+ biosynthetic process (GO:0006741), NAD+ biosynthetic process via the salvage pathway (GO:0034355), nicotinamide riboside metabolic process (GO:0046495), nicotinate metabolic process (GO:1901847), NAD+ biosynthetic process (GO:0009435), pyridine nucleotide biosynthetic process (GO:0019363), NAD+ metabolic process (GO:0019674), nucleobase-containing small molecule metabolic process (GO:0055086)
GO Molecular Function (9): ATP binding (GO:0005524), metal ion binding (GO:0046872), ribosylnicotinamide kinase activity (GO:0050262), nicotinate riboside kinase activity (GO:0061769), nucleotide binding (GO:0000166), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), obsolete nicotinate riboside kinase activity (GO:0034317)
GO Cellular Component (2): cytoplasm (GO:0005737), cytosol (GO:0005829)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of water-soluble vitamins and cofactors | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| purine nucleotide biosynthetic process | 2 |
| nicotinamide nucleotide biosynthetic process | 2 |
| kinase activity | 2 |
| phosphotransferase activity, alcohol group as acceptor | 2 |
| cellular anatomical structure | 2 |
| NADP+ metabolic process | 1 |
| NAD+ biosynthetic process | 1 |
| pyridine nucleotide salvage | 1 |
| purine nucleotide salvage | 1 |
| pyridine nucleoside metabolic process | 1 |
| alkaloid metabolic process | 1 |
| monocarboxylic acid metabolic process | 1 |
| pyridine-containing compound metabolic process | 1 |
| NAD+ metabolic process | 1 |
| nucleotide biosynthetic process | 1 |
| pyridine-containing compound biosynthetic process | 1 |
| purine nucleotide metabolic process | 1 |
| nicotinamide nucleotide metabolic process | 1 |
| nucleobase-containing compound metabolic process | 1 |
| small molecule metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate 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 anatomical structure | 1 |
| cytoplasm | 1 |
Protein interactions and networks
STRING
1196 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| NMRK1 | NMNAT1 | Q9HAN9 | 812 |
| NMRK1 | NAPRT | Q6XQN6 | 772 |
| NMRK1 | A0A2R8YFG2 | A0A2R8YFG2 | 769 |
| NMRK1 | QPRT | Q15274 | 722 |
| NMRK1 | NADSYN1 | Q6IA69 | 709 |
| NMRK1 | NAMPT | P43490 | 708 |
| NMRK1 | NMNAT2 | Q9BZQ4 | 705 |
| NMRK1 | ITGA7 | Q13683 | 693 |
| NMRK1 | SLC12A8 | A0AV02 | 614 |
| NMRK1 | PXN | P49023 | 578 |
| NMRK1 | PNP | P00491 | 553 |
| NMRK1 | BST1 | Q10588 | 513 |
| NMRK1 | SARM1 | Q6SZW1 | 494 |
| NMRK1 | SIRT1 | Q96EB6 | 451 |
| NMRK1 | TDO2 | P48775 | 435 |
IntAct
18 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TAX1BP1 | NMRK1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| NMRK1 | TAX1BP1 | psi-mi:“MI:0915”(physical association) | 0.720 |
| REL | NMRK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KCTD21 | NMRK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| INCA1 | NMRK1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ECE1 | NMRK1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NMRK1 | ECE1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| NMRK1 | REL | psi-mi:“MI:0915”(physical association) | 0.000 |
| NMRK1 | KCTD21 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NMRK1 | TAX1BP1 | psi-mi:“MI:0915”(physical association) | 0.000 |
| NMRK1 | INCA1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (8): NMRK1 (Two-hybrid), NMRK1 (Two-hybrid), REL (Two-hybrid), KCTD21 (Two-hybrid), INCA1 (Two-hybrid), NMRK1 (Affinity Capture-RNA), CSTB (Cross-Linking-MS (XL-MS)), APP (Reconstituted Complex)
ESM2 similar proteins: A0A1P8AWH8, A2RU49, A4FUP9, A5PJU6, M4IRL9, O80574, O82730, P13255, P37287, Q14749, Q1PET6, Q29513, Q29555, Q2KIR8, Q58DC0, Q58DM7, Q5F480, Q5HZ68, Q5IH13, Q5IH14, Q5R7E8, Q5RAF1, Q5U3W0, Q64323, Q6DHV7, Q6DIQ1, Q6DJF8, Q6NYU2, Q6PBF6, Q6YXW6, Q71N41, Q7ZXG7, Q80SY6, Q8BFS6, Q8CCT7, Q8R164, Q90WG6, Q91W63, Q94AH8, Q94AS5
Diamond homologs: C0ZAS6, Q6AY91, Q91W63, Q9D7C9, Q9NPI5, Q9NWW6
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
45 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 33 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1680 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:75066751:ACTT:A | donor_loss | 1.0000 |
| 9:75066754:TACAC:T | donor_loss | 1.0000 |
| 9:75066755:A:AC | donor_gain | 1.0000 |
| 9:75066755:ACACT:A | donor_loss | 1.0000 |
| 9:75066756:C:CC | donor_gain | 1.0000 |
| 9:75066756:C:G | donor_loss | 1.0000 |
| 9:75066756:CA:C | donor_gain | 1.0000 |
| 9:75066756:CACT:C | donor_gain | 1.0000 |
| 9:75066756:CACTT:C | donor_gain | 1.0000 |
| 9:75066836:GTACA:G | acceptor_gain | 1.0000 |
| 9:75066837:TACA:T | acceptor_gain | 1.0000 |
| 9:75066838:ACA:A | acceptor_gain | 1.0000 |
| 9:75066838:ACAC:A | acceptor_loss | 1.0000 |
| 9:75066839:CA:C | acceptor_gain | 1.0000 |
| 9:75066839:CAC:C | acceptor_gain | 1.0000 |
| 9:75066840:ACTA:A | acceptor_loss | 1.0000 |
| 9:75066841:C:CC | acceptor_gain | 1.0000 |
| 9:75066841:C:CG | acceptor_loss | 1.0000 |
| 9:75066842:T:A | acceptor_loss | 1.0000 |
| 9:75066844:C:CT | acceptor_gain | 1.0000 |
| 9:75069127:A:C | acceptor_gain | 1.0000 |
| 9:75069893:A:AC | donor_gain | 1.0000 |
| 9:75069894:C:CC | donor_gain | 1.0000 |
| 9:75069952:T:A | donor_gain | 1.0000 |
| 9:75077204:CTGG:C | acceptor_gain | 1.0000 |
| 9:75077208:C:CC | acceptor_gain | 1.0000 |
| 9:75077579:CA:C | acceptor_gain | 1.0000 |
| 9:75077581:C:CC | acceptor_gain | 1.0000 |
| 9:75061569:T:C | acceptor_gain | 0.9900 |
| 9:75066749:ATACT:A | donor_loss | 0.9900 |
AlphaMissense
1335 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:75069747:C:A | R128S | 0.982 |
| 9:75069747:C:G | R128S | 0.982 |
| 9:75069744:C:A | R129S | 0.976 |
| 9:75069744:C:G | R129S | 0.976 |
| 9:75077563:T:A | K16I | 0.976 |
| 9:75069912:A:C | F100L | 0.975 |
| 9:75069912:A:T | F100L | 0.975 |
| 9:75069914:A:G | F100L | 0.975 |
| 9:75069050:A:G | W148R | 0.970 |
| 9:75069050:A:T | W148R | 0.970 |
| 9:75069745:C:G | R129T | 0.970 |
| 9:75077496:G:C | F38L | 0.970 |
| 9:75077496:G:T | F38L | 0.970 |
| 9:75077498:A:G | F38L | 0.970 |
| 9:75069748:C:G | R128T | 0.966 |
| 9:75077560:G:A | T17I | 0.964 |
| 9:75069063:A:C | F143L | 0.962 |
| 9:75069063:A:T | F143L | 0.962 |
| 9:75069065:A:G | F143L | 0.962 |
| 9:75077563:T:G | K16T | 0.962 |
| 9:75069917:C:G | G99R | 0.961 |
| 9:75077564:T:G | K16Q | 0.961 |
| 9:75069048:C:A | W148C | 0.957 |
| 9:75069048:C:G | W148C | 0.957 |
| 9:75083089:A:C | S9R | 0.956 |
| 9:75083089:A:T | S9R | 0.956 |
| 9:75083091:T:G | S9R | 0.956 |
| 9:75069745:C:A | R129M | 0.955 |
| 9:75077568:A:C | S14R | 0.955 |
| 9:75077568:A:T | S14R | 0.955 |
dbSNP variants (sampled 300 via entrez): RS1000011585 (9:75089091 G>A), RS1000013149 (9:75088532 G>A,C,T), RS1000070977 (9:75082810 C>A,T), RS1000208529 (9:75063685 T>A), RS1000245505 (9:75069418 T>C), RS1000257116 (9:75063972 T>A), RS1000288439 (9:75077069 G>A), RS1000416447 (9:75076461 A>G), RS1000574302 (9:75064080 A>C), RS1000582823 (9:75071093 A>G), RS1000593943 (9:75065355 A>G), RS1000664220 (9:75078371 C>G,T), RS1000818622 (9:75072032 A>G), RS1001184788 (9:75078040 T>A,C), RS1001225881 (9:75088545 C>A,G,T)
Disease associations
OMIM: gene MIM:608704 | disease phenotypes:
GenCC curated gene-disease
| Disease | Classification | Inheritance |
|---|---|---|
| Tourette syndrome | No Known Disease Relationship | Unknown |
Mondo (1): Tourette syndrome (MONDO:0007661)
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005124_2 | Urinary magnesium-to-creatinine ratio | 4.000000e-13 |
| GCST006923_14 | Loneliness | 5.000000e-09 |
| GCST006924_6 | Loneliness (MTAG) | 2.000000e-09 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008449 | magnesium:creatinine ratio measurement |
| EFO:0007865 | loneliness measurement |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D005879 | Tourette Syndrome | C10.228.140.079.898; C10.228.662.825.800; C10.574.500.850; C16.320.400.820; F03.625.992.850 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
45 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression | 8 |
| trichostatin A | increases expression | 2 |
| sodium arsenite | increases expression, decreases expression | 2 |
| mercuric bromide | increases expression, affects cotreatment | 2 |
| entinostat | increases expression, affects cotreatment | 2 |
| Cisplatin | affects cotreatment, increases expression, affects expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Silicon Dioxide | decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, increases expression | 2 |
| dicrotophos | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| propionaldehyde | increases expression | 1 |
| puag-haad | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| nutlin 3 | affects cotreatment, increases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| jinfukang | affects cotreatment, increases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Fulvestrant | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | affects expression, increases abundance | 1 |
| Clomiphene | decreases expression | 1 |
| Dactinomycin | affects cotreatment, increases expression | 1 |
| Diethylstilbestrol | increases expression | 1 |
Cellosaurus cell lines
4 cell lines: 4 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_B5KI | HAP1 NMRK1 (-) 2 | Cancer cell line | Male |
| CVCL_D7VX | Ubigene A-549 NMRK1 KO | Cancer cell line | Male |
| CVCL_D8RH | Ubigene HCT 116 NMRK1 KO | Cancer cell line | Male |
| CVCL_XR01 | HAP1 NMRK1 (-) 1 | Cancer cell line | Male |
Clinical trials (associated diseases)
183 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00152750 | PHASE4 | UNKNOWN | Study of Clonidine on Sleep Architecture in Children With Tourette’s Syndrome (TS) and Comorbid ADHD |
| NCT00226824 | PHASE4 | TERMINATED | Safety Study of Galantamine in Tic Disorders |
| NCT00241176 | PHASE4 | COMPLETED | Open Label Trial of Aripiprazole in Children and Adolescents With Tourette’s Disorder |
| NCT00370838 | PHASE4 | COMPLETED | Comparison of Keppra and Clonidine in the Treatment of Tics |
| NCT01018056 | PHASE4 | COMPLETED | Developing New Treatments for Tourette Syndrome: Therapeutic Trials With Modulators of Glutamatergic Neurotransmission |
| NCT01547000 | PHASE4 | COMPLETED | Guanfacine in Children With Tic Disorders |
| NCT03239210 | PHASE4 | COMPLETED | Effects of Ondansetron in Obsessive-compulsive and Tic Disorders |
| NCT00004376 | PHASE3 | COMPLETED | Phase III Randomized, Double-Blind, Placebo-Controlled Study of Guanfacine for Tourette Syndrome and Attention Deficit Hyperactivity Disorder |
| NCT00206323 | PHASE3 | COMPLETED | A Randomized, Placebo-controlled, Tourette Syndrome Study. |
| NCT00206336 | PHASE3 | COMPLETED | An Open-label Study to Determine the Efficacy and Safety of Topiramate in the Treatment of Tourette Syndrome. |
| NCT00478842 | PHASE3 | COMPLETED | Pallidal Stimulation and Gilles de la Tourette Syndrome |
| NCT00681863 | PHASE3 | TERMINATED | Open-label Extension Study of Pramipexole in the Treatment of Children and Adolescents With Tourette Syndrome |
| NCT01501695 | PHASE3 | COMPLETED | Phase III Study of 5LGr to Treat Tic Disorder |
| NCT03087201 | PHASE3 | COMPLETED | CANNAbinoids in the Treatment of TICS (CANNA-TICS) |
| NCT03487783 | PHASE3 | COMPLETED | Aripiprazole Oral Solution in the Treatment of Children and Adolescents With Tourette’s Syndrome |
| NCT03567291 | PHASE3 | TERMINATED | Evaluation of Safety and Tolerability of Long-term TEV-50717 (Deutetrabenazine) for Treatment of Tourette Syndrome in Children and Adolescents |
| NCT03571256 | PHASE3 | COMPLETED | A Study to Test if TEV-50717 is Effective in Relieving Tics Associated With Tourette Syndrome (TS) |
| NCT06021522 | PHASE3 | ACTIVE_NOT_RECRUITING | A Study to Evaluate Long-term Safety of Ecopipam Tablets in Children, Adolescents and Adults With Tourette’s Disorder |
| NCT00004393 | PHASE2 | COMPLETED | Phase II Double Blind Placebo Controlled Trial of Risperidone in Tourette Syndrome |
| NCT00004652 | PHASE2 | COMPLETED | Phase II Pilot Controlled Study of Short Vs Longer Term Pimozide (Orap) Therapy in Tourette Syndrome |
| NCT00231985 | PHASE2 | COMPLETED | Effectiveness of Behavior Therapy and Psychosocial Therapy for the Treatment of Tourette Syndrome and Chronic Tic Disorder |
| NCT00311909 | PHASE2 | COMPLETED | Thalamic Deep Brain Stimulation for Tourette Syndrome |
| NCT00529308 | PHASE2 | COMPLETED | Transcranial Magnetic Stimulation (TMS) for Individuals With Tourette’s Syndrome |
| NCT00558467 | PHASE2 | COMPLETED | Pramipexole Pilot Phase II Study in Children and Adolescents With Tourette Disorder According to DSM-IV Criteria |
| NCT01043549 | PHASE2 | TERMINATED | Repetitive Transcranial Magnetic Stimulation of the Posterior Parietal Cortex in Patients Suffering From Gilles de la Tourette Syndrome |
| NCT01133353 | PHASE2 | WITHDRAWN | A Study of the Effectiveness and Safety of Tetrabenazine MR in Pediatric Subjects With Tourette’s Syndrome |
| NCT01475383 | PHASE2 | WITHDRAWN | Study Evaluating The Safety And Efficacy Of PF-03654746 In Adult Subjects With Tourette’s Syndrome |
| NCT01647269 | PHASE2 | COMPLETED | A Trial of Bilateral Deep Brain Stimulation to the Globus Pallidus Internum in Tourette Syndrome |
| NCT01904773 | PHASE2 | COMPLETED | Safety, Tolerability, Pharmacokinetic, and Efficacy Study of AZD5213 in Adolescents With Tourette’s Disorder |
| NCT02102698 | PHASE2 | COMPLETED | Ecopipam Treatment of Tourette’s Syndrome in Subjects 7-17 Years |
| NCT02217007 | PHASE2 | WITHDRAWN | A Trial Evaluating the Efficacy, Safety, and Pharmacokinetics of SNC-102 in Subjects With Tourette Syndrome |
| NCT02247206 | PHASE2 | COMPLETED | VoIP Delivered Behavior Therapy for Tourette Syndrome |
| NCT02581865 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Adults With Tourette Syndrome |
| NCT02619084 | PHASE2 | COMPLETED | Subthalamic Stimulation in Tourette’s Syndrome |
| NCT02679079 | PHASE2 | COMPLETED | Safety and Efficacy Study of NBI-98854 in Children and Adolescents With Tourette Syndrome |
| NCT02879578 | PHASE2 | COMPLETED | Safety and Tolerability Study of NBI-98854 for the Treatment of Subjects With Tourette Syndrome |
| NCT03066193 | PHASE2 | COMPLETED | Efficacy of a Therapeutic Combination of Dronabinol and PEA for Tourette Syndrome |
| NCT03247244 | PHASE2 | TERMINATED | Safety and Efficacy of Cannabis in Tourette Syndrome |
| NCT03325010 | PHASE2 | COMPLETED | Safety, Tolerability, and Efficacy of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
| NCT03444038 | PHASE2 | COMPLETED | Open-Label Safety and Tolerability Study of NBI-98854 for the Treatment of Pediatric Subjects With Tourette Syndrome |
Related Atlas pages
- Associated diseases: Tourette syndrome
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): Tourette syndrome