RFK
gene geneOn this page
Also known as FLJ11149RIFK
Summary
RFK (riboflavin kinase, HGNC:30324) is a protein-coding gene on chromosome 9q21.13, encoding Riboflavin kinase (Q969G6). Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. It is a selective cancer dependency (DepMap: 34.1% of cell lines).
Riboflavin kinase (RFK; EC 2.7.1.26) is an essential enzyme that catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin mononucleotide (FMN), an obligatory step in vitamin B2 utilization and flavin cofactor synthesis (Karthikeyan et al., 2003 [PubMed 12623014]).
Source: NCBI Gene 55312 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 17 total
- Cancer dependency (DepMap): dependent in 34.1% of screened cell lines
- MANE Select transcript:
NM_018339
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:30324 |
| Approved symbol | RFK |
| Name | riboflavin kinase |
| Location | 9q21.13 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ11149, RIFK |
| Ensembl gene | ENSG00000135002 |
| Ensembl biotype | protein_coding |
| OMIM | 613010 |
| Entrez | 55312 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 4 protein_coding_CDS_not_defined, 2 protein_coding
ENST00000376736, ENST00000472900, ENST00000476087, ENST00000479197, ENST00000483155, ENST00000490113
RefSeq mRNA: 1 — MANE Select: NM_018339
NM_018339
CCDS: CCDS35044
Canonical transcript exons
ENST00000376736 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001471508 | 76385526 | 76387529 |
| ENSE00001471519 | 76394090 | 76394426 |
| ENSE00003509999 | 76388554 | 76388656 |
| ENSE00003648958 | 76392418 | 76392569 |
Expression profiles
Bgee: expression breadth ubiquitous, 292 present calls, max score 98.40.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.5020 / max 238.6054, expressed in 1804 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 101037 | 17.2970 | 1799 |
| 101038 | 3.1653 | 1428 |
| 101031 | 0.0268 | 6 |
| 101032 | 0.0129 | 2 |
Top tissues by expression
295 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| endothelial cell | CL:0000115 | 98.40 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 98.37 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 97.88 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 97.74 | gold quality |
| pons | UBERON:0000988 | 97.57 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 97.53 | gold quality |
| CA1 field of hippocampus | UBERON:0003881 | 96.88 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.84 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.73 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 96.38 | gold quality |
| amniotic fluid | UBERON:0000173 | 96.36 | gold quality |
| colonic mucosa | UBERON:0000317 | 95.94 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.92 | gold quality |
| choroid plexus epithelium | UBERON:0003911 | 95.90 | gold quality |
| jejunum | UBERON:0002115 | 95.78 | gold quality |
| germinal epithelium of ovary | UBERON:0001304 | 95.62 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.52 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.48 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 95.46 | gold quality |
| postcentral gyrus | UBERON:0002581 | 95.42 | gold quality |
| islet of Langerhans | UBERON:0000006 | 95.41 | gold quality |
| medulla oblongata | UBERON:0001896 | 95.36 | gold quality |
| parietal lobe | UBERON:0001872 | 95.34 | gold quality |
| esophagus squamous epithelium | UBERON:0006920 | 95.17 | gold quality |
| heart right ventricle | UBERON:0002080 | 95.12 | gold quality |
| pericardium | UBERON:0002407 | 94.95 | gold quality |
| palpebral conjunctiva | UBERON:0001812 | 94.80 | gold quality |
| vena cava | UBERON:0004087 | 94.74 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 94.63 | gold quality |
| pylorus | UBERON:0001166 | 94.58 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-MTAB-6701 | yes | 81.88 |
| E-ANND-3 | yes | 5.14 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
120 targeting RFK, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-LET-7A-3P | 100.00 | 74.03 | 3932 |
| HSA-LET-7B-3P | 100.00 | 74.08 | 3913 |
| HSA-LET-7F-1-3P | 100.00 | 74.02 | 3928 |
| HSA-MIR-98-3P | 100.00 | 74.08 | 3907 |
| HSA-MIR-196A-1-3P | 99.99 | 72.15 | 2772 |
| HSA-MIR-511-3P | 99.99 | 68.85 | 1467 |
| HSA-MIR-548C-3P | 99.99 | 74.01 | 7587 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-513B-5P | 99.99 | 69.96 | 2150 |
| HSA-MIR-371B-5P | 99.99 | 75.34 | 4759 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-3658 | 99.96 | 73.87 | 4379 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-548AJ-3P | 99.96 | 73.38 | 5345 |
| HSA-MIR-548X-3P | 99.96 | 73.38 | 5345 |
Functional genomics
DepMap (CRISPR cell-line fitness): dependent in 34.1% of screened cell lines.
Literature-anchored findings (GeneRIF, showing 5)
- the structure of riboflavin kinase cocrystallized with both MgADP and FMN is reported; drastic conformational changes associated with flavin binding are observed primarily at the so-called Flap I and Flap II loop regions (PMID:14580199)
- results suggest that TNF, through the activation of RFK, enhances the incorporation of FAD in NADPH oxidase enzymes, a critical step for the assembly and activation of NADPH oxidase (PMID:19641494)
- levels of riboflavin kinase expression correlate well with Gleason score, known as a good indicator of patient prognosis (PMID:21308351)
- DR4 and DR5 have a capability to activate Nox1 by recruiting RFK, resulting in ROS-mediated apoptotic cell death in tumor cells. (PMID:22158615)
- Results from a study on gene expression variability markers in early-stage human embryos shows that RFK is a putative expression variability marker for the 3-day, 8-cell embryo stage. (PMID:26288249)
Cross-species orthologs
7 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rfk | ENSDARG00000060522 |
| mus_musculus | Rfk | ENSMUSG00000024712 |
| rattus_norvegicus | AABR07053065.1 | ENSRNOG00000004381 |
| rattus_norvegicus | Rfk | ENSRNOG00000022273 |
| rattus_norvegicus | Rfk-ps1 | ENSRNOG00000066048 |
| drosophila_melanogaster | Rfk | FBGN0014930 |
| caenorhabditis_elegans | WBGENE00011224 |
Protein
Protein identifiers
Riboflavin kinase — Q969G6 (reviewed: Q969G6)
Alternative names: ATP:riboflavin 5’-phosphotransferase, Flavokinase
All UniProt accessions (2): Q969G6, H7C4G0
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the phosphorylation of riboflavin (vitamin B2) to form flavin-mononucleotide (FMN), hence rate-limiting enzyme in the synthesis of FAD. Essential for TNF-induced reactive oxygen species (ROS) production. Through its interaction with both TNFRSF1A and CYBA, physically and functionally couples TNFRSF1A to NADPH oxidase. TNF-activation of RFK may enhance the incorporation of FAD in NADPH oxidase, a critical step for the assembly and activation of NADPH oxidase.
Subunit / interactions. Monomer. Directly interacts with TNFRSF1A death domain. TNFRSF1A-binding may be supported by TRADD. In the absence of TNFRSF1A, interacts with TRADD. Independently of TNFRSF1A, interacts with the NADPH oxidase subunit CYBA.
Subcellular location. Cytoplasm.
Tissue specificity. Detected in brain, placenta and urinary bladder.
Cofactor. Zinc or magnesium.
Pathway. Cofactor biosynthesis; FMN biosynthesis; FMN from riboflavin (ATP route): step 1/1.
RefSeq proteins (1): NP_060809* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR015865 | Riboflavin_kinase_bac/euk | Domain |
| IPR023465 | Riboflavin_kinase_dom_sf | Homologous_superfamily |
| IPR023468 | Riboflavin_kinase | Family |
Pfam: PF01687
Enzyme classification (BRENDA):
- EC 2.7.1.26 — riboflavin kinase (BRENDA: 15 organisms, 72 substrates, 59 inhibitors, 73 Km, 52 kcat entries)
Substrate kinetics (BRENDA)
3 substrates with measured Km, best-characterized 3. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| RIBOFLAVIN | — | 35 |
| ATP | — | 32 |
| ROSEOFLAVIN | 0.03 | 1 |
Catalyzed reactions (Rhea), 1 shown:
- riboflavin + ATP = FMN + ADP + H(+) (RHEA:14357)
UniProt features (29 total): binding site 12, strand 7, helix 6, chain 1, active site 1, mutagenesis site 1, sequence conflict 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1NB0 | X-RAY DIFFRACTION | 1.7 |
| 1NB9 | X-RAY DIFFRACTION | 1.7 |
| 1P4M | X-RAY DIFFRACTION | 1.8 |
| 1Q9S | X-RAY DIFFRACTION | 2.42 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q969G6-F1 | 90.73 | 0.78 |
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): 79 (nucleophile)
Ligand- & substrate-binding residues (12): 91; 104; 107; 109; 15; 21; 27; 27; 29; 29; 82; 84
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 79 | loss of riboflavin kinase activity. no effect on tnfrsf1a- and cyba-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-196843 | Vitamin B2 (riboflavin) metabolism |
MSigDB gene sets: 196 (showing top):
GSE18804_SPLEEN_MACROPHAGE_VS_COLON_TUMORAL_MACROPHAGE_DN, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, GOBP_REGULATION_OF_OXIDOREDUCTASE_ACTIVITY, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, BROWNE_HCMV_INFECTION_16HR_UP, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, GOBP_SMALL_MOLECULE_BIOSYNTHETIC_PROCESS, GOBP_POSITIVE_REGULATION_OF_CATALYTIC_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, GOBP_CARBOHYDRATE_DERIVATIVE_BIOSYNTHETIC_PROCESS, GOBP_VITAMIN_BIOSYNTHETIC_PROCESS
GO Biological Process (7): riboflavin metabolic process (GO:0006771), apoptotic process (GO:0006915), riboflavin biosynthetic process (GO:0009231), FMN biosynthetic process (GO:0009398), positive regulation of NAD(P)H oxidase activity (GO:0033864), flavin adenine dinucleotide biosynthetic process (GO:0072388), reactive oxygen species metabolic process (GO:0072593)
GO Molecular Function (7): ATP binding (GO:0005524), riboflavin kinase activity (GO:0008531), 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): cytoplasm (GO:0005737), mitochondrion (GO:0005739), 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 |
|---|---|
| flavin-containing compound biosynthetic process | 3 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| flavin-containing compound metabolic process | 1 |
| programmed cell death | 1 |
| apoptotic signaling pathway | 1 |
| execution phase of apoptosis | 1 |
| riboflavin metabolic process | 1 |
| water-soluble vitamin biosynthetic process | 1 |
| ribonucleoside monophosphate biosynthetic process | 1 |
| ribonucleotide biosynthetic process | 1 |
| FMN metabolic process | 1 |
| NAD(P)H oxidase H2O2-forming activity | 1 |
| positive regulation of oxidoreductase activity | 1 |
| nucleotide biosynthetic process | 1 |
| flavin adenine dinucleotide metabolic process | 1 |
| metabolic process | 1 |
| adenyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| kinase activity | 1 |
| phosphotransferase activity, alcohol group as acceptor | 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 |
| intracellular membrane-bounded organelle | 1 |
Protein interactions and networks
STRING
1681 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RFK | TNFRSF1A | P19438 | 969 |
| RFK | FLAD1 | Q8NFF5 | 919 |
| RFK | NOX1 | Q9Y5S8 | 868 |
| RFK | TRADD | Q15628 | 855 |
| RFK | CYBA | P13498 | 849 |
| RFK | FDXR | P22570 | 747 |
| RFK | NOXO1 | Q8NFA2 | 702 |
| RFK | PIP4K2B | P78356 | 647 |
| RFK | THBS1 | P07996 | 578 |
| RFK | SLC25A32 | Q9H2D1 | 575 |
| RFK | SLC52A1 | Q9NWF4 | 557 |
| RFK | CYBB | P04839 | 540 |
| RFK | NOXA1 | Q86UR1 | 517 |
| RFK | RIPK1 | Q13546 | 515 |
| RFK | MT-CYB | P00156 | 513 |
IntAct
16 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| TNFRSF1A | TRADD | psi-mi:“MI:0914”(association) | 0.960 |
| TNFRSF1A | RFK | psi-mi:“MI:0915”(physical association) | 0.560 |
| RFK | CNTLN | psi-mi:“MI:0915”(physical association) | 0.560 |
| RFK | CYBA | psi-mi:“MI:0914”(association) | 0.460 |
| TNFRSF1A | RFK | psi-mi:“MI:0407”(direct interaction) | 0.410 |
| RFK | IL1RN | psi-mi:“MI:0915”(physical association) | 0.400 |
| TNFRSF1A | CYBB | psi-mi:“MI:0914”(association) | 0.350 |
| CYBA | TNFRSF1A | psi-mi:“MI:0914”(association) | 0.350 |
| MRPL49 | UBA6 | psi-mi:“MI:0914”(association) | 0.350 |
| RFK | CNTLN | psi-mi:“MI:0915”(physical association) | 0.000 |
| RFK | psi-mi:“MI:0915”(physical association) | 0.000 | |
| RAB1A | RFK | psi-mi:“MI:0915”(physical association) | 0.000 |
| DNAJB9 | RFK | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (32): GRHPR (Co-fractionation), MEMO1 (Co-fractionation), RFK (Co-fractionation), RFK (Co-fractionation), RFK (Co-fractionation), RFK (Co-fractionation), RFK (Two-hybrid), RFK (Affinity Capture-Western), TNFRSF1A (Affinity Capture-Western), TRADD (Affinity Capture-Western), CYBA (Affinity Capture-Western), RFK (Two-hybrid), RFK (Two-hybrid), RFK (Two-hybrid), RFK (Two-hybrid)
ESM2 similar proteins: A2AKQ0, A2VE55, A5GFZ5, C9WPN6, F1QGW6, F6RQL9, O60762, O70152, O77676, P00516, P0C605, P20461, P32189, P35250, P37273, P41091, P53033, P81795, Q05B83, Q0IID9, Q13126, Q13976, Q14409, Q15B89, Q1JQ93, Q2KHU8, Q2KJ61, Q2TBV5, Q2VIR3, Q3MHF7, Q5HZM6, Q5MB13, Q5R797, Q5RDC9, Q5RIC0, Q5ZHS1, Q5ZMS3, Q63060, Q641W4, Q64516
Diamond homologs: A1C603, A1DG00, A2QFH1, A3M0C9, A4QQ05, A5DAH9, A5E1A0, O74866, O76206, P0C5D9, Q03778, Q0CHR1, Q2UMM4, Q4WHD2, Q59263, Q5AW61, Q6CG11, Q6CT57, Q6FM49, Q6M923, Q75DY2, Q84MD8, Q8CFV9, Q969G6, P94465, P73651, P22990, Q8Y7F2, P0AG40, P0AG41, P0AG42, P0AG43, P44957, P47391, P54575, P57250, P75587, Q8K9Z1, Q8Y914, A4IT50
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
17 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 15 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
444 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:76387525:TGACT:T | acceptor_gain | 1.0000 |
| 9:76387526:GACT:G | acceptor_gain | 1.0000 |
| 9:76387528:CT:C | acceptor_gain | 1.0000 |
| 9:76387529:TC:T | acceptor_loss | 1.0000 |
| 9:76387530:C:CC | acceptor_gain | 1.0000 |
| 9:76387531:T:C | acceptor_loss | 1.0000 |
| 9:76387547:CAGG:C | acceptor_gain | 1.0000 |
| 9:76388549:CTTA:C | donor_loss | 1.0000 |
| 9:76388551:TA:T | donor_loss | 1.0000 |
| 9:76388552:A:AC | donor_gain | 1.0000 |
| 9:76388552:ACCT:A | donor_loss | 1.0000 |
| 9:76388553:C:CC | donor_gain | 1.0000 |
| 9:76388553:CCTA:C | donor_gain | 1.0000 |
| 9:76388553:CCTAA:C | donor_gain | 1.0000 |
| 9:76388652:GTTTC:G | acceptor_gain | 1.0000 |
| 9:76388653:TTTC:T | acceptor_gain | 1.0000 |
| 9:76388654:TTC:T | acceptor_gain | 1.0000 |
| 9:76388654:TTCC:T | acceptor_loss | 1.0000 |
| 9:76388655:TC:T | acceptor_gain | 1.0000 |
| 9:76388656:CC:C | acceptor_gain | 1.0000 |
| 9:76388657:C:CC | acceptor_gain | 1.0000 |
| 9:76388658:T:G | acceptor_loss | 1.0000 |
| 9:76388659:A:AC | acceptor_gain | 1.0000 |
| 9:76388659:A:C | acceptor_gain | 1.0000 |
| 9:76388664:C:CT | acceptor_gain | 1.0000 |
| 9:76388665:A:T | acceptor_gain | 1.0000 |
| 9:76392412:GCTTA:G | donor_loss | 1.0000 |
| 9:76392414:TTAC:T | donor_loss | 1.0000 |
| 9:76392415:TA:T | donor_loss | 1.0000 |
| 9:76392416:ACCAT:A | donor_loss | 1.0000 |
AlphaMissense
1030 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 9:76392455:C:T | G66E | 0.999 |
| 9:76392460:G:C | S64R | 0.999 |
| 9:76392460:G:T | S64R | 0.999 |
| 9:76392462:T:G | S64R | 0.999 |
| 9:76388580:C:G | R104T | 0.998 |
| 9:76387491:C:G | A126P | 0.997 |
| 9:76387502:T:G | D122A | 0.997 |
| 9:76387523:A:G | L115P | 0.997 |
| 9:76392506:C:T | G49D | 0.997 |
| 9:76394129:C:G | G15R | 0.997 |
| 9:76387502:T:A | D122V | 0.996 |
| 9:76387503:C:G | D122H | 0.996 |
| 9:76388564:A:C | F109L | 0.996 |
| 9:76388564:A:T | F109L | 0.996 |
| 9:76388566:A:G | F109L | 0.996 |
| 9:76388579:T:A | R104S | 0.996 |
| 9:76388579:T:G | R104S | 0.996 |
| 9:76388654:T:A | E79D | 0.996 |
| 9:76388654:T:G | E79D | 0.996 |
| 9:76392501:C:G | A51P | 0.996 |
| 9:76392565:A:C | N29K | 0.996 |
| 9:76392565:A:T | N29K | 0.996 |
| 9:76394117:C:A | G19C | 0.996 |
| 9:76394117:C:G | G19R | 0.996 |
| 9:76394120:G:T | R18S | 0.996 |
| 9:76394128:C:T | G15D | 0.996 |
| 9:76387515:C:G | A118P | 0.995 |
| 9:76388650:G:C | H81D | 0.995 |
| 9:76388655:T:A | E79V | 0.995 |
| 9:76388656:C:T | E79K | 0.995 |
dbSNP variants (sampled 300 via entrez): RS1000001092 (9:76396338 C>T), RS1000560741 (9:76389207 C>A,T), RS1001016414 (9:76385528 T>C), RS1001489730 (9:76394375 G>A,C), RS1001501089 (9:76394476 G>A), RS1001679438 (9:76395095 T>G), RS1001815320 (9:76395329 C>A,G,T), RS1001836486 (9:76388721 C>T), RS1001984216 (9:76389905 G>C), RS1002292456 (9:76389697 G>A), RS1002557766 (9:76394428 C>A), RS1002661496 (9:76387515 C>A,G,T), RS1002955626 (9:76387193 T>A,C), RS1003648511 (9:76387539 G>C), RS1003828688 (9:76393515 T>A,C)
Disease associations
OMIM: gene MIM:613010 | 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 |
|---|---|---|
| GCST000267_7 | Multiple sclerosis (age of onset) | 5.000000e-06 |
| GCST009391_1430 | Metabolite levels | 2.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004847 | age at onset |
| EFO:0010408 | triacylglycerol 50:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
PharmGKB clinical annotations
1 annotations.
| Variant | Type | Level | Drugs | Phenotypes |
|---|---|---|---|---|
| rs11144870 | Efficacy | 3 | citalopram;escitalopram | Depressive Disorder |
PharmGKB variants
1 variants.
| Variant | Genes | Level | Score | #Clin annots | Drugs |
|---|---|---|---|---|---|
| rs11144870 | RFK | 3 | 0.00 | 1 | citalopram;escitalopram |
CTD chemical–gene interactions
46 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects expression, increases expression | 5 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| sodium arsenite | decreases expression, increases expression | 2 |
| Acetaminophen | decreases expression, increases expression | 2 |
| Hydrogen Peroxide | affects cotreatment, decreases expression, decreases response to substance | 2 |
| Phenylmercuric Acetate | affects cotreatment, increases expression | 2 |
| Tamoxifen | affects expression, affects cotreatment, increases expression | 2 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 2 |
| Raloxifene Hydrochloride | affects expression, affects cotreatment, increases expression | 2 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| bisphenol A | affects cotreatment, increases expression | 1 |
| zinc chromate | increases abundance, increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| chromium hexavalent ion | increases abundance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression, decreases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression, decreases expression | 1 |
| bisphenol S | affects cotreatment, increases expression | 1 |
| 3-(2-hydroxy-4-(2-methylnonan-2-yl)phenyl)cyclohexan-1-ol | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Carbamazepine | affects expression | 1 |
| Cisplatin | decreases response to substance | 1 |
| Demecolcine | increases expression | 1 |
| Dexamethasone | affects cotreatment, increases expression | 1 |
| Diamide | decreases response to substance | 1 |
| Diazinon | increases methylation | 1 |
| Doxorubicin | decreases expression | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Flavin-Adenine Dinucleotide | increases abundance | 1 |
| Flavin Mononucleotide | increases abundance | 1 |
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.