RIDA
gene geneOn this page
Also known as UK114P14.5PSP
Summary
RIDA (reactive intermediate imine deaminase A, HGNC:16897) is a protein-coding gene on chromosome 8q22.2, encoding 2-iminobutanoate/2-iminopropanoate deaminase (P52758). Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism.
Enables mRNA binding activity. Involved in mRNA catabolic process and mRNA destabilization. Located in cytoplasm and nucleus.
Source: NCBI Gene 10247 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 10 total
- MANE Select transcript:
NM_005836
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:16897 |
| Approved symbol | RIDA |
| Name | reactive intermediate imine deaminase A |
| Location | 8q22.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | UK114, P14.5, PSP |
| Ensembl gene | ENSG00000132541 |
| Ensembl biotype | protein_coding |
| OMIM | 602487 |
| Entrez | 10247 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 7 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron, 1 nonsense_mediated_decay
ENST00000254878, ENST00000519155, ENST00000519608, ENST00000520507, ENST00000521560, ENST00000522791, ENST00000883921, ENST00000883922, ENST00000883923, ENST00000883924
RefSeq mRNA: 1 — MANE Select: NM_005836
NM_005836
CCDS: CCDS6276
Canonical transcript exons
ENST00000254878 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001026779 | 98102344 | 98102904 |
| ENSE00001382719 | 98108646 | 98108751 |
| ENSE00002126599 | 98117032 | 98117171 |
| ENSE00003534460 | 98104489 | 98104544 |
| ENSE00003611300 | 98105938 | 98106006 |
| ENSE00003630276 | 98106272 | 98106326 |
Expression profiles
Bgee: expression breadth ubiquitous, 272 present calls, max score 99.56.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 23.3184 / max 1136.7563, expressed in 1765 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 94082 | 19.4758 | 1755 |
| 94081 | 3.8426 | 1287 |
Top tissues by expression
293 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right lobe of liver | UBERON:0001114 | 99.56 | gold quality |
| liver | UBERON:0002107 | 99.04 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 98.42 | gold quality |
| adrenal tissue | UBERON:0018303 | 97.70 | gold quality |
| nephron tubule | UBERON:0001231 | 97.58 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.20 | gold quality |
| nucleus accumbens | UBERON:0001882 | 97.12 | gold quality |
| kidney epithelium | UBERON:0004819 | 97.11 | gold quality |
| putamen | UBERON:0001874 | 96.75 | gold quality |
| kidney | UBERON:0002113 | 96.69 | gold quality |
| amygdala | UBERON:0001876 | 96.54 | gold quality |
| renal glomerulus | UBERON:0000074 | 96.36 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 96.23 | gold quality |
| cingulate cortex | UBERON:0003027 | 96.18 | gold quality |
| right adrenal gland cortex | UBERON:0035827 | 96.04 | gold quality |
| hypothalamus | UBERON:0001898 | 95.99 | gold quality |
| metanephric glomerulus | UBERON:0004736 | 95.97 | gold quality |
| right adrenal gland | UBERON:0001233 | 95.89 | gold quality |
| cortex of kidney | UBERON:0001225 | 95.80 | gold quality |
| right frontal lobe | UBERON:0002810 | 95.67 | gold quality |
| left adrenal gland | UBERON:0001234 | 95.35 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.34 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 95.07 | gold quality |
| middle frontal gyrus | UBERON:0002702 | 94.98 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.81 | gold quality |
| substantia nigra | UBERON:0002038 | 94.77 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 94.74 | gold quality |
| metanephros | UBERON:0000081 | 94.56 | gold quality |
| adrenal cortex | UBERON:0001235 | 94.45 | gold quality |
| adrenal gland | UBERON:0002369 | 94.27 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-124472 | yes | 531.99 |
| E-HCAD-10 | yes | 439.78 |
| E-MTAB-10553 | yes | 37.66 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): MYC
miRNA regulators (miRDB)
29 targeting RIDA, 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-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-548N | 99.98 | 71.94 | 4170 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-MIR-3143 | 99.93 | 71.96 | 3104 |
| HSA-MIR-6809-3P | 99.91 | 71.45 | 3814 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-1323 | 99.83 | 69.89 | 2471 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-548O-3P | 99.74 | 69.30 | 2228 |
| HSA-MIR-3913-3P | 99.74 | 66.53 | 938 |
| HSA-MIR-3934-5P | 99.67 | 64.04 | 846 |
| HSA-MIR-587 | 99.64 | 70.86 | 2611 |
| HSA-MIR-3685 | 99.62 | 68.83 | 1621 |
| HSA-MIR-372-5P | 99.41 | 69.11 | 2299 |
| HSA-MIR-942-5P | 99.41 | 68.40 | 1977 |
| HSA-MIR-130A-5P | 99.33 | 70.26 | 2623 |
| HSA-MIR-410-3P | 99.27 | 69.98 | 2457 |
| HSA-MIR-12135 | 98.99 | 70.26 | 1814 |
| HSA-MIR-5001-3P | 98.91 | 67.28 | 1394 |
| HSA-MIR-6074 | 98.89 | 69.64 | 2187 |
| HSA-MIR-320A-5P | 98.88 | 66.75 | 1248 |
| HSA-MIR-3124-3P | 98.87 | 68.95 | 2123 |
| HSA-MIR-6868-3P | 98.63 | 69.64 | 2259 |
| HSA-MIR-4518 | 98.12 | 66.82 | 1030 |
| HSA-MIR-337-3P | 97.90 | 69.37 | 1052 |
| HSA-MIR-3664-3P | 97.85 | 67.62 | 1452 |
| HSA-MIR-6750-3P | 96.79 | 67.50 | 740 |
| HSA-MIR-4695-3P | 96.71 | 67.21 | 836 |
| HSA-MIR-6760-3P | 96.35 | 68.31 | 1001 |
Literature-anchored findings (GeneRIF, showing 5)
- x-ray crystallography study of p14.5 (PMID:14997576)
- analysis of ligand binding sites of protein p14.5 (PMID:16198412)
- We also find that a subset of m(6)A-containing circular RNAs associates with YTHDF2 in an HRSP12-dependent manner and is selectively downregulated by RNase P/MRP. (PMID:30930054)
- The new findings regarding the biological significance of enamine and imine production and outline the importance of RidA in controlling the accumulation of reactive metabolites. (PMID:31103411)
- P14.5 functions to inhibit cell migration and can be used as a prognostic marker in hepatocellular carcinoma. (PMID:36434386)
Cross-species orthologs
5 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rida | ENSDARG00000035882 |
| mus_musculus | Rida | ENSMUSG00000022323 |
| rattus_norvegicus | Rida | ENSRNOG00000005437 |
| drosophila_melanogaster | UK114 | FBGN0086691 |
| caenorhabditis_elegans | WBGENE00016011 |
Protein
Protein identifiers
2-iminobutanoate/2-iminopropanoate deaminase — P52758 (reviewed: P52758)
Alternative names: 14.5 kDa translational inhibitor protein, Heat-responsive protein 12, Reactive intermediate imine deaminase A homolog, Translation inhibitor L-PSP ribonuclease, UK114 antigen homolog
All UniProt accessions (4): P52758, E5RIP8, H0YB34, H0YBX3
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the hydrolytic deamination of enamine/imine intermediates that form during the course of normal metabolism. May facilitate the release of ammonia from these potentially toxic reactive metabolites, reducing their impact on cellular components. It may act on enamine/imine intermediates formed by several types of pyridoxal-5’-phosphate-dependent dehydratases including L-threonine dehydratase. Also promotes endoribonucleolytic cleavage of some transcripts by promoting recruitment of the ribonuclease P/MRP complex. Acts by bridging YTHDF2 and the ribonuclease P/MRP complex. RIDA/HRSP12 binds to N6-methyladenosine (m6A)-containing mRNAs containing a 5’-GGUUC-3’ motif: cooperative binding of RIDA/HRSP12 and YTHDF2 to such transcripts lead to recruitment of the ribonuclease P/MRP complex and subsequent endoribonucleolytic cleavage.
Subunit / interactions. Homotrimer. Interacts with YTHDF2.
Subcellular location. Cytoplasm. Nucleus. Peroxisome. Mitochondrion.
Tissue specificity. Expressed predominantly in liver and kidney. Lower levels in lung and brain.
Similarity. Belongs to the RutC family.
RefSeq proteins (1): NP_005827* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR006056 | RidA | Family |
| IPR006175 | YjgF/YER057c/UK114 | Family |
| IPR019897 | RidA_CS | Conserved_site |
| IPR035959 | RutC-like_sf | Homologous_superfamily |
Pfam: PF01042
Catalyzed reactions (Rhea), 2 shown:
- 2-iminobutanoate + H2O = 2-oxobutanoate + NH4(+) (RHEA:39975)
- 2-iminopropanoate + H2O = pyruvate + NH4(+) (RHEA:40671)
UniProt features (23 total): strand 8, modified residue 6, helix 5, initiator methionine 1, chain 1, turn 1, sequence conflict 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 9N80 | X-RAY DIFFRACTION | 1.39 |
| 1ONI | X-RAY DIFFRACTION | 1.9 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P52758-F1 | 97.12 | 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.
Post-translational modifications (6): 2, 13, 60, 67, 74, 136
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-8849175 | Threonine catabolism |
MSigDB gene sets: 210 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_DN, GSE18804_BRAIN_VS_COLON_TUMORAL_MACROPHAGE_DN, GSE18804_SPLEEN_MACROPHAGE_VS_TUMORAL_MACROPHAGE_DN, GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_DN, GOMF_ENDONUCLEASE_ACTIVITY, GOMF_RNA_NUCLEASE_ACTIVITY, BUYTAERT_PHOTODYNAMIC_THERAPY_STRESS_DN, GOBP_REGULATION_OF_MRNA_CATABOLIC_PROCESS, GOMF_NUCLEASE_ACTIVITY, GOBP_ALPHA_AMINO_ACID_METABOLIC_PROCESS, GOBP_SERINE_FAMILY_AMINO_ACID_BIOSYNTHETIC_PROCESS, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_UP, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_UP, GOBP_MACROMOLECULE_CATABOLIC_PROCESS
GO Biological Process (8): mRNA catabolic process (GO:0006402), lipid metabolic process (GO:0006629), negative regulation of translation (GO:0017148), obsolete L-threonine catabolic process to glycine (GO:0019518), mRNA destabilization (GO:0061157), post-transcriptional regulation of gene expression (GO:0010608), negative regulation of gene expression (GO:0010629), regulation of primary metabolic process (GO:0080090)
GO Molecular Function (9): RNA binding (GO:0003723), mRNA binding (GO:0003729), RNA endonuclease activity producing 3’-phosphomonoesters, hydrolytic mechanism (GO:0016892), deaminase activity (GO:0019239), 2-iminobutanoate deaminase activity (GO:0120242), 2-iminopropanoate deaminase activity (GO:0120243), protein binding (GO:0005515), hydrolase activity (GO:0016787), 2-iminobutanoate/2-iminopropanoate deaminase activity (GO:0120241)
GO Cellular Component (7): nucleus (GO:0005634), cytoplasm (GO:0005737), mitochondrion (GO:0005739), mitochondrial matrix (GO:0005759), peroxisome (GO:0005777), cytosol (GO:0005829), extracellular exosome (GO:0070062)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Metabolism of amino acids and derivatives | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| negative regulation of gene expression | 3 |
| primary metabolic process | 2 |
| regulation of gene expression | 2 |
| 2-iminobutanoate/2-iminopropanoate deaminase activity | 2 |
| intracellular membrane-bounded organelle | 2 |
| cellular anatomical structure | 2 |
| cytoplasm | 2 |
| RNA catabolic process | 1 |
| mRNA metabolic process | 1 |
| translation | 1 |
| regulation of translation | 1 |
| negative regulation of protein metabolic process | 1 |
| regulation of mRNA stability | 1 |
| RNA destabilization | 1 |
| positive regulation of mRNA catabolic process | 1 |
| gene expression | 1 |
| negative regulation of macromolecule biosynthetic process | 1 |
| regulation of metabolic process | 1 |
| nucleic acid binding | 1 |
| RNA binding | 1 |
| RNA endonuclease activity | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds | 1 |
| binding | 1 |
| catalytic activity | 1 |
| deaminase activity | 1 |
| intracellular anatomical structure | 1 |
| mitochondrion | 1 |
| intracellular organelle lumen | 1 |
| microbody | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1805 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RIDA | YTHDF2 | Q9Y5A9 | 989 |
| RIDA | CNOT1 | A5YKK6 | 554 |
| RIDA | YTHDC1 | Q96MU7 | 542 |
| RIDA | YTHDF3 | Q7Z739 | 516 |
| RIDA | DPH3 | Q96FX2 | 506 |
| RIDA | DPH6 | Q7L8W6 | 499 |
| RIDA | DPH5 | Q9H2P9 | 493 |
| RIDA | UPF1 | Q92900 | 492 |
| RIDA | DPH7 | Q9BTV6 | 490 |
| RIDA | YTHDF1 | Q9BYJ9 | 490 |
| RIDA | YTHDC2 | Q9H6S0 | 489 |
| RIDA | METTL3 | Q86U44 | 488 |
| RIDA | PNRC2 | Q9NPJ4 | 462 |
| RIDA | DPH2 | Q9BQC3 | 459 |
| RIDA | DPH1 | Q9BZG8 | 459 |
IntAct
22 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RIDA | BANP | psi-mi:“MI:0915”(physical association) | 0.560 |
| RIDA | RIDA | psi-mi:“MI:0915”(physical association) | 0.370 |
| DEAF1 | RIDA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIDA | HIVEP1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| HPD | RIDA | psi-mi:“MI:0915”(physical association) | 0.370 |
| MDM2 | RIDA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIDA | MT-CO2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIDA | SERPINA5 | psi-mi:“MI:0915”(physical association) | 0.370 |
| SPEN | RIDA | psi-mi:“MI:0915”(physical association) | 0.370 |
| RIDA | TMEM176A | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRNP | SYNJ1 | psi-mi:“MI:0914”(association) | 0.350 |
| PRNP | MBP | psi-mi:“MI:0914”(association) | 0.350 |
| RIDA | OGA | psi-mi:“MI:0914”(association) | 0.350 |
| NDUFS3 | ACOT7 | psi-mi:“MI:0914”(association) | 0.350 |
| SHTN1 | psi-mi:“MI:0914”(association) | 0.350 | |
| FTSJ1 | RIDA | psi-mi:“MI:0915”(physical association) | 0.000 |
| TRAF6 | RIDA | psi-mi:“MI:0915”(physical association) | 0.000 |
| RIDA | BANP | psi-mi:“MI:0915”(physical association) | 0.000 |
| RIDA | alr | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (47): HRSP12 (Two-hybrid), BROX (Co-fractionation), TPI1 (Co-fractionation), ACOX1 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), UBB (Affinity Capture-MS), MGEA5 (Affinity Capture-MS), BANP (Two-hybrid), HRSP12 (Proximity Label-MS), HRSP12 (Proximity Label-MS), ACOX1 (Affinity Capture-MS), MGEA5 (Affinity Capture-MS), CARM1 (Affinity Capture-MS), UBB (Affinity Capture-MS), HRSP12 (Two-hybrid)
ESM2 similar proteins: A0A1J1DL12, A4W923, A6T7A0, A8GCT4, B0SW61, B5XXN2, B6I986, B7N3G6, B8H1Q2, B9JLT7, C5B0U7, C5CN81, C9Y0S5, D0LI57, D3QPK3, D3RKL2, D4GEU6, D5CE34, D5VGV2, O25598, O34133, O52178, P0AF93, P0AF94, P0AF95, P0AFQ5, P0AGL2, P0AGL3, P0AGL4, P40037, P40185, P40431, P44839, P52758, P52759, P52760, P55654, P80601, Q3T114, Q48MQ6
Diamond homologs: A0A1J1DL12, A6T7A0, A8IAD2, B0SW61, B1M5I6, B1ZB17, B5XXN2, D0LI57, D3RKL2, O25598, O34133, O43003, O52178, O58584, O66689, P0AF93, P0AF94, P0AF95, P0AGL2, P0AGL3, P0AGL4, P37552, P40037, P40185, P40431, P44839, P52758, P52759, P52760, P52761, P55654, P57452, P80601, P97117, Q10121, Q3T114, Q6FFZ5, Q7CP78, Q89AG0, Q8K9H7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
10 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 0 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
685 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 8:98102903:CCCTG:C | acceptor_loss | 1.0000 |
| 8:98102905:C:A | acceptor_loss | 1.0000 |
| 8:98105932:A:AC | donor_gain | 1.0000 |
| 8:98105932:ACTT:A | donor_loss | 1.0000 |
| 8:98105933:C:CC | donor_gain | 1.0000 |
| 8:98105934:TTACA:T | donor_loss | 1.0000 |
| 8:98105935:TA:T | donor_loss | 1.0000 |
| 8:98105936:A:AC | donor_gain | 1.0000 |
| 8:98105936:ACAC:A | donor_loss | 1.0000 |
| 8:98105937:C:CA | donor_gain | 1.0000 |
| 8:98105937:CA:C | donor_gain | 1.0000 |
| 8:98105937:CACT:C | donor_gain | 1.0000 |
| 8:98105937:CACTG:C | donor_gain | 1.0000 |
| 8:98106002:CACCA:C | acceptor_gain | 1.0000 |
| 8:98106003:ACCA:A | acceptor_gain | 1.0000 |
| 8:98106004:CCA:C | acceptor_gain | 1.0000 |
| 8:98106004:CCAC:C | acceptor_gain | 1.0000 |
| 8:98106005:CA:C | acceptor_gain | 1.0000 |
| 8:98106005:CAC:C | acceptor_gain | 1.0000 |
| 8:98106006:ACTAG:A | acceptor_loss | 1.0000 |
| 8:98106007:C:CC | acceptor_gain | 1.0000 |
| 8:98106007:CT:C | acceptor_loss | 1.0000 |
| 8:98106008:T:C | acceptor_loss | 1.0000 |
| 8:98106267:CTCA:C | donor_loss | 1.0000 |
| 8:98106268:TCA:T | donor_loss | 1.0000 |
| 8:98106269:CAC:C | donor_loss | 1.0000 |
| 8:98106270:ACCG:A | donor_loss | 1.0000 |
| 8:98108644:A:AC | donor_gain | 1.0000 |
| 8:98108645:C:CC | donor_gain | 1.0000 |
| 8:98102900:CTGCC:C | acceptor_gain | 0.9900 |
AlphaMissense
876 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 8:98108747:C:G | A24P | 0.987 |
| 8:98102883:C:G | A125P | 0.986 |
| 8:98105991:A:T | V81D | 0.983 |
| 8:98104512:A:C | Y110D | 0.979 |
| 8:98106000:T:A | K78I | 0.979 |
| 8:98104523:G:T | A106D | 0.978 |
| 8:98104519:T:A | R107S | 0.976 |
| 8:98104519:T:G | R107S | 0.976 |
| 8:98102876:G:T | A127D | 0.975 |
| 8:98105988:A:G | L82P | 0.975 |
| 8:98102882:G:T | A125E | 0.974 |
| 8:98104496:A:G | L115S | 0.974 |
| 8:98108654:C:G | A55P | 0.973 |
| 8:98105958:A:T | V92D | 0.972 |
| 8:98108713:C:T | G35E | 0.972 |
| 8:98106301:A:G | L66P | 0.970 |
| 8:98102890:T:A | E122D | 0.969 |
| 8:98102890:T:G | E122D | 0.969 |
| 8:98105966:G:C | F89L | 0.969 |
| 8:98105966:G:T | F89L | 0.969 |
| 8:98105968:A:G | F89L | 0.969 |
| 8:98108746:G:T | A24D | 0.969 |
| 8:98104518:C:G | A108P | 0.967 |
| 8:98105999:T:A | K78N | 0.967 |
| 8:98105999:T:G | K78N | 0.967 |
| 8:98108704:C:T | G38D | 0.967 |
| 8:98104514:G:T | A109D | 0.965 |
| 8:98104526:G:T | P105H | 0.964 |
| 8:98108713:C:A | G35V | 0.964 |
| 8:98105954:A:C | N93K | 0.963 |
dbSNP variants (sampled 300 via entrez): RS1000187597 (8:98111423 C>T), RS1000344019 (8:98118097 C>T), RS1000662520 (8:98109325 T>C), RS1000676032 (8:98116743 C>A,G), RS1000725587 (8:98111102 T>C), RS1000928429 (8:98109634 C>T), RS1001017629 (8:98118630 T>C), RS1001257510 (8:98103737 T>C,G), RS1001448124 (8:98110551 C>T), RS1001575364 (8:98117721 C>A), RS1001825853 (8:98108493 A>G), RS1002053667 (8:98117408 G>A), RS1002244119 (8:98106442 T>A), RS1002248399 (8:98116339 C>T), RS1002394458 (8:98113421 T>C)
Disease associations
OMIM: gene MIM:602487 | 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 |
|---|---|---|
| GCST001762_746 | Obesity-related traits | 6.000000e-07 |
| GCST006585_1707 | Blood protein levels | 6.000000e-10 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003939 | energy intake |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
39 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Tretinoin | decreases expression | 3 |
| Cyclosporine | decreases expression | 3 |
| Aflatoxin B1 | decreases methylation, affects expression, decreases expression | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Benzo(a)pyrene | decreases expression, increases expression | 2 |
| Cadmium Chloride | decreases expression, increases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| Esketamine | decreases expression | 1 |
| dicrotophos | decreases expression | 1 |
| methyleugenol | decreases expression | 1 |
| arsenite | increases reaction, affects binding | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | affects cotreatment, decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| epigallocatechin gallate | decreases expression, affects cotreatment | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | decreases expression | 1 |
| K 7174 | decreases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| MT19c compound | increases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Resveratrol | affects cotreatment, increases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Air Pollutants | increases abundance, decreases expression | 1 |
| Azathioprine | decreases expression | 1 |
| Oxygen | decreases expression | 1 |
Cellosaurus cell lines
3 cell lines: 3 cancer cell line
First 10 cell lines (id-ordered, not curated):
| Cellosaurus | Name | Category | Sex |
|---|---|---|---|
| CVCL_SR66 | HAP1 HRSP12 (-) 1 | Cancer cell line | Male |
| CVCL_SR67 | HAP1 HRSP12 (-) 2 | Cancer cell line | Male |
| CVCL_SR68 | HAP1 HRSP12 (-) 3 | Cancer cell line | Male |
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.