RASD2
gene geneOn this page
Also known as TEM2RhesMGC:4834
Summary
RASD2 (RASD family member 2, HGNC:18229) is a protein-coding gene on chromosome 22q12.3, encoding GTP-binding protein Rhes (Q96D21). GTPase signaling protein that binds to and hydrolyzes GTP.
This gene belongs to the Ras superfamily of small GTPases and is enriched in the striatum. The encoded protein functions as an E3 ligase for attachment of small ubiquitin-like modifier (SUMO). This protein also binds to mutant huntingtin (mHtt), the protein mutated in Huntington disease (HD). Sumoylation of mHTT by this protein may cause degeneration of the striatum. The protein functions as an activator of mechanistic target of rapamycin 1 (mTOR1), which in turn plays a role in myelination, axon growth and regeneration. Reduced levels of mRNA expressed by this gene were found in HD patients.
Source: NCBI Gene 23551 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 31 total
- MANE Select transcript:
NM_014310
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:18229 |
| Approved symbol | RASD2 |
| Name | RASD family member 2 |
| Location | 22q12.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TEM2, Rhes, MGC:4834 |
| Ensembl gene | ENSG00000100302 |
| Ensembl biotype | protein_coding |
| OMIM | 612842 |
| Entrez | 23551 |
Gene structure
Transcript identifiers
Ensembl transcripts: 6 — 6 protein_coding
ENST00000216127, ENST00000885869, ENST00000885870, ENST00000885871, ENST00000885872, ENST00000918448
RefSeq mRNA: 4 — MANE Select: NM_014310
NM_001366725, NM_001376515, NM_001376516, NM_014310
CCDS: CCDS13916
Canonical transcript exons
ENST00000216127 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000653539 | 35546801 | 35547080 |
| ENSE00001044643 | 35551503 | 35553999 |
| ENSE00001284385 | 35540831 | 35541500 |
Expression profiles
Bgee: expression breadth ubiquitous, 167 present calls, max score 97.74.
FANTOM5 (CAGE): breadth broad, TPM avg 5.4886 / max 933.3479, expressed in 418 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 192011 | 3.0478 | 209 |
| 192008 | 0.6433 | 239 |
| 192013 | 0.6413 | 85 |
| 192010 | 0.5413 | 88 |
| 192012 | 0.4598 | 81 |
| 192009 | 0.1552 | 69 |
Top tissues by expression
244 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| putamen | UBERON:0001874 | 97.74 | gold quality |
| caudate nucleus | UBERON:0001873 | 97.18 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.32 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 90.61 | gold quality |
| lower esophagus | UBERON:0013473 | 90.43 | gold quality |
| right frontal lobe | UBERON:0002810 | 89.01 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 87.40 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 87.35 | gold quality |
| apex of heart | UBERON:0002098 | 86.85 | gold quality |
| prefrontal cortex | UBERON:0000451 | 86.82 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 86.46 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 86.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 85.84 | gold quality |
| frontal cortex | UBERON:0001870 | 85.45 | gold quality |
| neocortex | UBERON:0001950 | 84.58 | gold quality |
| forebrain | UBERON:0001890 | 82.41 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 82.29 | gold quality |
| postcentral gyrus | UBERON:0002581 | 82.29 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.09 | gold quality |
| primary visual cortex | UBERON:0002436 | 81.54 | gold quality |
| amygdala | UBERON:0001876 | 81.36 | gold quality |
| hypothalamus | UBERON:0001898 | 80.55 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 80.16 | gold quality |
| corpus epididymis | UBERON:0004359 | 80.08 | gold quality |
| gastrocnemius | UBERON:0001388 | 80.06 | gold quality |
| parietal lobe | UBERON:0001872 | 79.91 | gold quality |
| brain | UBERON:0000955 | 79.66 | gold quality |
| prostate gland | UBERON:0002367 | 79.33 | gold quality |
| muscle of leg | UBERON:0001383 | 79.14 | gold quality |
| transverse colon | UBERON:0001157 | 78.86 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 3.54 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
75 targeting RASD2, 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-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-101-3P | 99.94 | 75.03 | 2230 |
| HSA-MIR-144-3P | 99.94 | 73.98 | 2698 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-605-3P | 99.88 | 69.22 | 1833 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-6842-5P | 99.80 | 67.54 | 1587 |
| HSA-MIR-7110-5P | 99.80 | 67.84 | 1712 |
| HSA-MIR-4713-5P | 99.78 | 67.80 | 1794 |
| HSA-MIR-92A-2-5P | 99.75 | 67.01 | 2164 |
| HSA-MIR-5004-5P | 99.68 | 66.63 | 1294 |
| HSA-MIR-6766-5P | 99.68 | 67.70 | 2325 |
| HSA-MIR-6892-3P | 99.68 | 66.40 | 1178 |
| HSA-MIR-4527 | 99.66 | 67.43 | 714 |
| HSA-MIR-3177-5P | 99.65 | 70.38 | 1174 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
Literature-anchored findings (GeneRIF, showing 15)
- Rhes is an imidazoline-regulated transcript in pancreatic beta-cells (PMID:16945334)
- Rhes can interfere with the functional activity of wt and mutated TSHr and with the respective hormone-stimulated cAMP production of FSHr and LHr. (PMID:17556863)
- The genes RASD2 might be vulnerability genes for neuropsychologically defined subgroups of schizophrenic patients. (PMID:18571626)
- The monomeric G proteins AGS1 and Rhes selectively influence Galphai-dependent signaling to modulate N-type (CaV2.2) calcium channels. (PMID:18815223)
- Binding to the Gbeta subunits involves the cationic regions of AGS1 and Rhes, and Data used Rhes-AGS1 chimeras to show that their different cationic regions determine the Gbeta-specificity of the interactions. (PMID:19255495)
- The sequestering of Rhes through its binding to mutant huntingtin may decrease the ability of Rhes to perform vital physiological functions in the striatum neurons of Huntington disease patients. (Review) (PMID:23583659)
- The findings of this study suggested that Rhes may play a crucial role in striatal iron homeostasis. (PMID:23999124)
- Rhes robustly binds the autophagy regulator Beclin-1, decreasing its inhibitory interaction with Bcl-2 independent of JNK-1 signaling. (PMID:24324270)
- Rhes is reduced in the brains of Huntington’s disease patients. (PMID:25556834)
- Findings reveal that ras homolog enriched in striatum is localized also in striatal cholinergic interneurons and, most importantly, lack of this G-protein, significantly alters dopamine D2 receptor modulation of striatal cholinergic excitability. (PMID:25818655)
- Rhes influences striatal cAMP/PKA-dependent signaling and synaptic plasticity in a gender-sensitive fashion (PMID:26190541)
- Study demonstrated that variation in the gene coding for RASD2 (rs6518956) affects in vivo prefrontal and striatal phenotypes in healthy human subjects that are relevant to schizophrenia (PMID:26228524)
- results support the hypothesis that Rhes expression is regulated by miRNA and indicate that miR-101 may be a potent modulator of Rhes expression in striatal neurons. (PMID:30064488)
- These regions have been used to design peptides aimed at inhibiting RHES interactions and, therefore, mHtt sumoylation; in turn, these peptides will be used to develop small molecule inhibitors by both rational design and virtual screening of large compound libraries. (PMID:31638189)
- Involvement of the Protein Ras Homolog Enriched in the Striatum, Rhes, in Dopaminergic Neurons’ Degeneration: Link to Parkinson’s Disease. (PMID:34070217)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rasd2 | ENSMUSG00000034472 |
| rattus_norvegicus | Rasd2 | ENSRNOG00000014761 |
Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASL12 (ENSG00000103710), RHEB (ENSG00000106615), RASD1 (ENSG00000108551), RERGL (ENSG00000111404), RAP1A (ENSG00000116473), RASL11A (ENSG00000122035), RAP2C (ENSG00000123728), RAP2A (ENSG00000125249), RRAS (ENSG00000126458), RAP1B (ENSG00000127314), RASL11B (ENSG00000128045), KRAS (ENSG00000133703), RRAS2 (ENSG00000133818), RERG (ENSG00000134533), REM2 (ENSG00000139890), RIT1 (ENSG00000143622), RALB (ENSG00000144118), RIT2 (ENSG00000152214), MRAS (ENSG00000158186), DIRAS3 (ENSG00000162595), GEM (ENSG00000164949), DIRAS2 (ENSG00000165023), RRAD (ENSG00000166592), RHEBL1 (ENSG00000167550), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)
Protein
Protein identifiers
GTP-binding protein Rhes — Q96D21 (reviewed: Q96D21)
Alternative names: Ras homolog enriched in striatum, Tumor endothelial marker 2
All UniProt accessions (1): Q96D21
UniProt curated annotations — full annotation on UniProt →
Function. GTPase signaling protein that binds to and hydrolyzes GTP. Regulates signaling pathways involving G-proteins-coupled receptor and heterotrimeric proteins such as GNB1, GNB2 and GNB3. May be involved in selected striatal competencies, mainly locomotor activity and motor coordination.
Subunit / interactions. Monomer (Potential). Interacts with PIK3CA and UBE2I. Interacts with GNB1, GNB2 and GNB3. Interacts with HTT; interacts with mutant HTT (mHTT) with a much higher affinity than wild type HTT.
Subcellular location. Cell membrane.
Tissue specificity. Pancreatic endocrine cells (islets of Langerhans).
Post-translational modifications. Farnesylated. Farnesylation is required for membrane targeting.
Miscellaneous. Reduces cell survival in striatal cells with Huntington disease by binding to mutant Huntington disease protein (mHTT; poly-Gln region with 82 repeats) and inducing sumoylation of mHTT.
Similarity. Belongs to the small GTPase superfamily. RasD family.
RefSeq proteins (4): NP_001353654, NP_001363444, NP_001363445, NP_055125* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR052236 | Small_GTPase_RasD | Family |
Pfam: PF00071
UniProt features (9 total): binding site 3, chain 1, propeptide 1, region of interest 1, short sequence motif 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96D21-F1 | 83.11 | 0.60 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Ligand- & substrate-binding residues (3): 26–33; 73–77; 140–143
Post-translational modifications (2): 263, 263
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 88 (showing top):
GOBP_BEHAVIOR, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_PROTEIN_SUMOYLATION, MEF2_02, GOBP_CELL_CELL_SIGNALING, GOBP_PEPTIDYL_LYSINE_MODIFICATION, SRF_C, GOBP_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, GOBP_SYNAPTIC_TRANSMISSION_DOPAMINERGIC, GOBP_PROTEIN_SUMOYLATION, GOBP_POST_TRANSLATIONAL_PROTEIN_MODIFICATION, GOBP_SYNAPTIC_SIGNALING, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_PHOSPHATIDYLINOSITOL_3_KINASE_PROTEIN_KINASE_B_SIGNAL_TRANSDUCTION, RYTTCCTG_ETS2_B
GO Biological Process (5): synaptic transmission, dopaminergic (GO:0001963), signal transduction (GO:0007165), locomotory behavior (GO:0007626), positive regulation of protein sumoylation (GO:0033235), positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction (GO:0051897)
GO Molecular Function (4): GTPase activity (GO:0003924), GTP binding (GO:0005525), G-protein beta-subunit binding (GO:0031681), nucleotide binding (GO:0000166)
GO Cellular Component (3): plasma membrane (GO:0005886), synapse (GO:0045202), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| chemical synaptic transmission | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| behavior | 1 |
| protein sumoylation | 1 |
| regulation of protein sumoylation | 1 |
| positive regulation of protein modification by small protein conjugation or removal | 1 |
| phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | 1 |
| positive regulation of intracellular signal transduction | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| protein binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cell junction | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
2621 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASD2 | HTT | P42858 | 946 |
| RASD2 | BECN1 | Q14457 | 907 |
| RASD2 | CD248 | Q9HCU0 | 885 |
| RASD2 | PLXDC1 | Q8IUK5 | 777 |
| RASD2 | OXA1L | Q15070 | 668 |
| RASD2 | PPP1R1B | Q9UD71 | 605 |
| RASD2 | VAPA | Q9P0L0 | 604 |
| RASD2 | IPO5 | O00410 | 583 |
| RASD2 | UBE2I | P50550 | 549 |
| RASD2 | ADORA2A | P29274 | 518 |
| RASD2 | ARHGEF17 | Q96PE2 | 517 |
| RASD2 | PRKACA | P17612 | 477 |
| RASD2 | PRKACG | P22612 | 477 |
| RASD2 | PRKACB | P22694 | 473 |
| RASD2 | TCP1 | P17987 | 470 |
IntAct
7 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| RASD2 | LRP5 | psi-mi:“MI:0914”(association) | 0.530 |
| RASD2 | LRP6 | psi-mi:“MI:0914”(association) | 0.530 |
| RASD2 | RABAC1 | psi-mi:“MI:0915”(physical association) | 0.490 |
| RASD2 | psi-mi:“MI:0915”(physical association) | 0.400 |
BioGRID (22): LRP5 (Affinity Capture-MS), LRP6 (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), SLC4A7 (Affinity Capture-MS), AKT1 (Affinity Capture-Western), PIK3R1 (Affinity Capture-Western), PIK3R1 (Reconstituted Complex), SLC4A7 (Affinity Capture-MS), LRP6 (Affinity Capture-MS), LRP5 (Affinity Capture-MS), RASD2 (Reconstituted Complex), RASD2 (Reconstituted Complex), RASD2 (Reconstituted Complex), RASD2 (Reconstituted Complex), SLC4A7 (Affinity Capture-MS)
ESM2 similar proteins: A1DZY4, A6QP66, O35626, O35929, O88910, O88954, P0C0E4, P35295, P51157, P51158, P53667, P53668, P53669, P55040, P55041, P55043, P63032, P63033, Q06AU5, Q12829, Q13368, Q13637, Q3SWY9, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q8AVS6, Q8IYK8, Q8QFP8, Q8VEL9, Q8VHP8, Q8VHQ4, Q8WXH6
Diamond homologs: A5A6J7, A6NIZ1, A8NU18, B4GFJ8, B4JFU8, B4NJ72, D3Z8L7, G4MZY8, O35626, O42277, O42785, O93856, O95057, P01112, P01113, P01114, P01115, P01117, P03967, P05774, P08642, P08644, P08645, P08647, P0CQ42, P0CQ43, P10114, P10301, P10833, P13856, P18613, P20171, P22123, P22126, P22278, P22279, P22280, P23175, P28775, P32252
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
31 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 27 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
464 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 22:35546793:T:TA | acceptor_gain | 1.0000 |
| 22:35546796:T:A | acceptor_gain | 1.0000 |
| 22:35546797:GCA:G | acceptor_loss | 1.0000 |
| 22:35546798:CA:C | acceptor_loss | 1.0000 |
| 22:35546799:A:AG | acceptor_gain | 1.0000 |
| 22:35546799:AGCC:A | acceptor_loss | 1.0000 |
| 22:35546800:G:C | acceptor_loss | 1.0000 |
| 22:35546800:G:GA | acceptor_gain | 1.0000 |
| 22:35546800:GC:G | acceptor_gain | 1.0000 |
| 22:35546800:GCC:G | acceptor_gain | 1.0000 |
| 22:35546800:GCCC:G | acceptor_gain | 1.0000 |
| 22:35546800:GCCCC:G | acceptor_gain | 1.0000 |
| 22:35547076:CACAG:C | donor_loss | 1.0000 |
| 22:35547079:AGG:A | donor_loss | 1.0000 |
| 22:35547081:GTGAG:G | donor_loss | 1.0000 |
| 22:35547082:T:A | donor_loss | 1.0000 |
| 22:35551498:TGCA:T | acceptor_loss | 1.0000 |
| 22:35551499:GCA:G | acceptor_loss | 1.0000 |
| 22:35551501:A:AT | acceptor_loss | 1.0000 |
| 22:35551501:AG:A | acceptor_gain | 1.0000 |
| 22:35551501:AGG:A | acceptor_gain | 1.0000 |
| 22:35551501:AGGG:A | acceptor_gain | 1.0000 |
| 22:35551502:GG:G | acceptor_gain | 1.0000 |
| 22:35551502:GGG:G | acceptor_gain | 1.0000 |
| 22:35551502:GGGG:G | acceptor_gain | 1.0000 |
| 22:35551498:T:TA | acceptor_gain | 0.9900 |
| 22:35551501:A:AG | acceptor_gain | 0.9900 |
| 22:35551502:G:GG | acceptor_gain | 0.9900 |
| 22:35551502:GGGGA:G | acceptor_gain | 0.9900 |
| 22:35541496:CCCAG:C | donor_loss | 0.9800 |
AlphaMissense
1778 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 22:35546885:G:C | G26R | 1.000 |
| 22:35546885:G:T | G26C | 1.000 |
| 22:35546886:G:A | G26D | 1.000 |
| 22:35546886:G:T | G26V | 1.000 |
| 22:35546900:G:C | G31R | 1.000 |
| 22:35546901:G:A | G31D | 1.000 |
| 22:35546901:G:T | G31V | 1.000 |
| 22:35546925:T:C | F39S | 1.000 |
| 22:35546939:T:C | F44L | 1.000 |
| 22:35546941:T:A | F44L | 1.000 |
| 22:35546941:T:G | F44L | 1.000 |
| 22:35546972:T:C | F55L | 1.000 |
| 22:35546974:C:A | F55L | 1.000 |
| 22:35546974:C:G | F55L | 1.000 |
| 22:35546979:G:C | R57P | 1.000 |
| 22:35547015:T:C | L69P | 1.000 |
| 22:35547024:T:C | L72P | 1.000 |
| 22:35547026:G:A | D73N | 1.000 |
| 22:35547026:G:C | D73H | 1.000 |
| 22:35547027:A:C | D73A | 1.000 |
| 22:35547027:A:G | D73G | 1.000 |
| 22:35547027:A:T | D73V | 1.000 |
| 22:35547028:T:A | D73E | 1.000 |
| 22:35547028:T:G | D73E | 1.000 |
| 22:35547036:G:A | G76D | 1.000 |
| 22:35547047:T:A | F80I | 1.000 |
| 22:35547047:T:C | F80L | 1.000 |
| 22:35547047:T:G | F80V | 1.000 |
| 22:35547048:T:C | F80S | 1.000 |
| 22:35547048:T:G | F80C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000072954 (22:35534772 C>A,T), RS1000160776 (22:35550623 G>A), RS1000212787 (22:35551000 G>A), RS1000263034 (22:35534495 T>C), RS1000425121 (22:35535036 C>T), RS1000541005 (22:35539165 C>T), RS1000923296 (22:35539209 T>G), RS1001101938 (22:35545316 G>A), RS1001134686 (22:35533392 C>A,T), RS1001152446 (22:35540161 G>A), RS1001301626 (22:35545788 G>A,C), RS1001502501 (22:35533023 G>A,T), RS1001555343 (22:35546001 G>A), RS1001727142 (22:35533829 A>T), RS1001816460 (22:35545575 A>T)
Disease associations
OMIM: gene MIM:612842 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST005316_259 | Intelligence (MTAG) | 3.000000e-09 |
| GCST005958_13 | Waist-to-hip ratio adjusted for BMI (age >50) | 1.000000e-06 |
| GCST005962_33 | Waist-to-hip ratio adjusted for BMI x sex x age interaction (4df test) | 6.000000e-06 |
| GCST007013_1 | Hippocampal volume in mild cognitive impairment | 2.000000e-07 |
| GCST007576_283 | Chronotype | 1.000000e-09 |
EFO canonical traits (6, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004337 | intelligence |
| EFO:0007788 | BMI-adjusted waist-hip ratio |
| EFO:0008007 | age at assessment |
| EFO:0008343 | sex interaction measurement |
| EFO:0005035 | hippocampal volume |
| EFO:0008328 | chronotype measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
29 total (human), top 29 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Nickel | decreases expression | 2 |
| Cadmium Chloride | increases expression | 2 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression, affects cotreatment, decreases expression | 1 |
| pentanal | increases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| CGP 52608 | increases reaction, affects binding | 1 |
| perfluoro-n-nonanoic acid | increases expression | 1 |
| ICG 001 | increases expression | 1 |
| abrine | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | increases expression | 1 |
| Rosiglitazone | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | decreases expression | 1 |
| Acetaminophen | increases expression | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cisplatin | affects expression | 1 |
| Lipopolysaccharides | decreases expression, affects response to substance, increases expression, affects cotreatment | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Tobacco Smoke Pollution | decreases expression | 1 |
| Triclosan | increases expression | 1 |
| 1-Methyl-4-phenylpyridinium | increases expression | 1 |
| Gold Compounds | decreases methylation, increases expression | 1 |
| Okadaic Acid | increases expression | 1 |
| Copper Sulfate | increases expression | 1 |
| Acrylamide | increases expression | 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.