RHEBL1
gene geneOn this page
Also known as MGC34869FLJ25797RHEB2
Summary
RHEBL1 (RHEB like 1, HGNC:21166) is a protein-coding gene on chromosome 12q13.12, encoding GTPase RhebL1 (Q8TAI7). Binds GTP and exhibits intrinsic GTPase activity.
Enables GTP binding activity. Involved in TOR signaling and positive regulation of NF-kappaB transcription factor activity. Located in cytoplasm.
Source: NCBI Gene 121268 — RefSeq curated summary.
At a glance
- GWAS associations: 4
- Clinical variants (ClinVar): 24 total
- MANE Select transcript:
NM_144593
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21166 |
| Approved symbol | RHEBL1 |
| Name | RHEB like 1 |
| Location | 12q13.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC34869, FLJ25797, RHEB2 |
| Ensembl gene | ENSG00000167550 |
| Ensembl biotype | protein_coding |
| OMIM | 618956 |
| Entrez | 121268 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 5 protein_coding, 2 nonsense_mediated_decay
ENST00000301068, ENST00000420065, ENST00000550675, ENST00000550797, ENST00000918572, ENST00000918573, ENST00000918574
RefSeq mRNA: 2 — MANE Select: NM_144593
NM_001303126, NM_144593
CCDS: CCDS8778
Canonical transcript exons
ENST00000301068 — 8 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001114192 | 49069035 | 49069106 |
| ENSE00001276258 | 49064676 | 49065192 |
| ENSE00003490170 | 49066619 | 49066701 |
| ENSE00003560744 | 49066968 | 49067035 |
| ENSE00003566967 | 49066231 | 49066278 |
| ENSE00003606072 | 49065350 | 49065431 |
| ENSE00003654226 | 49066476 | 49066532 |
| ENSE00003850630 | 49069734 | 49069979 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 93.28.
FANTOM5 (CAGE): breadth broad, TPM avg 0.7001 / max 34.2610, expressed in 293 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 130798 | 0.6360 | 276 |
| 130795 | 0.0641 | 19 |
Top tissues by expression
242 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 93.28 | gold quality |
| secondary oocyte | CL:0000655 | 92.41 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.70 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 87.08 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 83.31 | gold quality |
| endothelial cell | CL:0000115 | 82.40 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 81.24 | gold quality |
| right uterine tube | UBERON:0001302 | 80.61 | gold quality |
| granulocyte | CL:0000094 | 80.20 | gold quality |
| prefrontal cortex | UBERON:0000451 | 79.51 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 78.00 | gold quality |
| right frontal lobe | UBERON:0002810 | 77.73 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 76.79 | gold quality |
| frontal cortex | UBERON:0001870 | 76.68 | gold quality |
| neocortex | UBERON:0001950 | 75.74 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.06 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.05 | gold quality |
| olfactory segment of nasal mucosa | UBERON:0005386 | 73.52 | gold quality |
| cerebral cortex | UBERON:0000956 | 72.97 | gold quality |
| bronchial epithelial cell | CL:0002328 | 72.89 | gold quality |
| tibial nerve | UBERON:0001323 | 72.76 | gold quality |
| bronchus | UBERON:0002185 | 72.33 | gold quality |
| occipital lobe | UBERON:0002021 | 72.14 | gold quality |
| stromal cell of endometrium | CL:0002255 | 71.99 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 71.90 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 71.48 | gold quality |
| cerebellar cortex | UBERON:0002129 | 71.37 | gold quality |
| spleen | UBERON:0002106 | 71.22 | gold quality |
| lymph node | UBERON:0000029 | 70.97 | gold quality |
| ventricular zone | UBERON:0003053 | 70.82 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 2.66 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
22 targeting RHEBL1, 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-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-19A-3P | 99.98 | 75.33 | 2762 |
| HSA-MIR-19B-3P | 99.98 | 75.44 | 2754 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-4267 | 99.96 | 66.53 | 2368 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-3529-3P | 99.90 | 73.55 | 3045 |
| HSA-MIR-448 | 99.79 | 72.37 | 2103 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
| HSA-MIR-365A-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-365B-3P | 99.43 | 70.02 | 836 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6852-5P | 99.17 | 66.69 | 2073 |
| HSA-MIR-154-5P | 98.92 | 66.65 | 733 |
| HSA-MIR-138-2-3P | 98.91 | 68.33 | 1643 |
| HSA-MIR-648 | 98.64 | 66.13 | 553 |
| HSA-MIR-6879-3P | 93.93 | 64.00 | 759 |
Literature-anchored findings (GeneRIF, showing 7)
- Data show that Rheb like-1 protein (RhebL1) rescues mTOR signaling during nutrient withdrawal, and identify critical residues in Rheb and RhebL1 which are required for their efficient activation of mTOR signaling. (PMID:16098514)
- RHEBL1 is a positive regulator of NF-kappa B-mediated gene transcription. (PMID:16328882)
- RhebL1 may be impacting the mTOR pathway in a different manner than Rheb1. (PMID:21655954)
- Findings are unprecedented and indicate that the DHH-RHEBL1 fusion transcript is a novel recurrent feature in the changing landscape of CBFA2T3-GLIS2-positive childhood AML. (PMID:24127550)
- These results establish CAD as a downstream effector of Rheb and suggest a possible role of Rheb in regulating de novo pyrimidine nucleotide synthesis.(Rheb small GTPases, which consist of Rheb1 and Rheb2 (also known as RhebL1) (PMID:25422319)
- High RHEBL1 expression is associated with lung cancer. (PMID:28209923)
- Rheb1 promotes glucose-stimulated insulin secretion in human and mouse beta-cells by upregulating GLUT expression. (PMID:34375645)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Rhebl1 | ENSMUSG00000023755 |
| rattus_norvegicus | Rhebl1 | ENSRNOG00000054385 |
Paralogs (35): RALA (ENSG00000006451), REM1 (ENSG00000088320), RASL10A (ENSG00000100276), RASD2 (ENSG00000100302), 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), NKIRAS2 (ENSG00000168256), HRAS (ENSG00000174775), DIRAS1 (ENSG00000176490), RAP2B (ENSG00000181467), ERAS (ENSG00000187682), NKIRAS1 (ENSG00000197885), NRAS (ENSG00000213281), RASL10B (ENSG00000270885)
Protein
Protein identifiers
GTPase RhebL1 — Q8TAI7 (reviewed: Q8TAI7)
Alternative names: Ras homolog enriched in brain like-1 c, Ras homolog enriched in brain-like protein 1, Rheb2
All UniProt accessions (3): C9JQQ1, Q8TAI7, F8W1T5
UniProt curated annotations — full annotation on UniProt →
Function. Binds GTP and exhibits intrinsic GTPase activity. May activate NF-kappa-B-mediated gene transcription. Promotes signal transduction through MTOR, activates RPS6KB1, and is a downstream target of the small GTPase-activating proteins TSC1 and TSC2.
Subunit / interactions. Interacts with MTOR.
Subcellular location. Endomembrane system. Cytoplasm.
Tissue specificity. Ubiquitously expressed. Expression increased at least 2-fold in several tumor cell lines.
Miscellaneous. May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
Similarity. Belongs to the small GTPase superfamily. Rheb family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q8TAI7-1 | 1 | yes |
| Q8TAI7-2 | 2 |
RefSeq proteins (2): NP_001290055, NP_653194* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR020849 | Small_GTPase_Ras-type | Family |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
Pfam: PF00071
Enzyme classification (BRENDA):
- EC 3.6.5.2 — small monomeric GTPase (BRENDA: 49 organisms, 138 substrates, 55 inhibitors, 5 Km, 1 kcat entries)
Substrate kinetics (BRENDA)
1 substrates with measured Km, best-characterized 1. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| GTP | — | 0 |
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (31 total): strand 6, helix 6, binding site 6, mutagenesis site 5, splice variant 2, chain 1, propeptide 1, lipid moiety-binding region 1, short sequence motif 1, turn 1, modified residue 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3OES | X-RAY DIFFRACTION | 2.3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q8TAI7-F1 | 92.71 | 0.83 |
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 (6): 16–21; 32–38; 38; 63; 119–122; 149–150
Post-translational modifications (2): 180, 180
Mutagenesis-validated functional residues (5):
| Position | Phenotype |
|---|---|
| 41 | partially impaired in rps6k1 activation. |
| 54 | partially deficient in guanine nucleotide binding. |
| 56 | partially deficient in guanine nucleotide binding. |
| 60 | significant decrease in nf-kappa b activation. |
| 64 | constitutively active. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 143 (showing top):
GSE45365_CTRL_VS_MCMV_INFECTION_NK_CELL_UP, GOBP_POSITIVE_REGULATION_OF_TOR_SIGNALING, GGGTGGRR_PAX4_03, USF_C, GARGALOVIC_RESPONSE_TO_OXIDIZED_PHOSPHOLIPIDS_BLUE_UP, GOMF_KINASE_ACTIVATOR_ACTIVITY, GOBP_POSITIVE_REGULATION_OF_MOLECULAR_FUNCTION, MYCMAX_01, BRN2_01, ARGGGTTAA_UNKNOWN, GOBP_POSITIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, GOBP_POSITIVE_REGULATION_OF_DNA_BINDING_TRANSCRIPTION_FACTOR_ACTIVITY, RYTTCCTG_ETS2_B, TGTTTAC_MIR30A5P_MIR30C_MIR30D_MIR30B_MIR30E5P, GOBP_TOR_SIGNALING
GO Biological Process (4): small GTPase-mediated signal transduction (GO:0007264), TOR signaling (GO:0031929), obsolete positive regulation of NF-kappaB transcription factor activity (GO:0051092), signal transduction (GO:0007165)
GO Molecular Function (7): GTPase activity (GO:0003924), GTP binding (GO:0005525), GDP binding (GO:0019003), metal ion binding (GO:0046872), nucleotide binding (GO:0000166), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (4): cytoplasm (GO:0005737), plasma membrane (GO:0005886), endomembrane system (GO:0012505), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 3 |
| guanyl ribonucleotide binding | 2 |
| intracellular signaling cassette | 1 |
| intracellular signal transduction | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| anion binding | 1 |
| cation binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| intracellular anatomical structure | 1 |
| membrane | 1 |
| cell periphery | 1 |
| vacuole | 1 |
| plasma membrane | 1 |
Protein interactions and networks
STRING
1588 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RHEBL1 | RRAGB | Q5VZM2 | 673 |
| RHEBL1 | TSC2 | P49815 | 555 |
| RHEBL1 | TBC1D7 | Q9P0N9 | 505 |
| RHEBL1 | TSC1 | Q92574 | 497 |
| RHEBL1 | RPTOR | Q8N122 | 471 |
| RHEBL1 | MTOR | P42345 | 460 |
| RHEBL1 | PDE6D | O43924 | 459 |
| RHEBL1 | PSMG1 | O95456 | 427 |
| RHEBL1 | LAMP2 | P13473 | 423 |
| RHEBL1 | RRAGC | Q9HB90 | 418 |
| RHEBL1 | MLST8 | Q9BVC4 | 414 |
| RHEBL1 | RRAGA | Q7L523 | 411 |
| RHEBL1 | LAMP1 | P11279 | 396 |
| RHEBL1 | SLC45A3 | Q96JT2 | 396 |
| RHEBL1 | ELK4 | P28323 | 387 |
IntAct
30 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PRKAB2 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RHEBL1 | PRKAB2 | psi-mi:“MI:0915”(physical association) | 0.780 |
| RHEBL1 | FHL3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| APPL1 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHEBL1 | APPL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FHL3 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UCHL1 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHEBL1 | SPRED1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ATXN1 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| RHEBL1 | TXNL4A | psi-mi:“MI:0915”(physical association) | 0.550 |
| TXNL4A | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.550 |
| TRAF2 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.400 |
| RHEBL1 | MTOR | psi-mi:“MI:0915”(physical association) | 0.400 |
| RHEBL1 | Appl1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RHEBL1 | Blzf1 | psi-mi:“MI:0915”(physical association) | 0.370 |
| RHEBL1 | Traf2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| PRKAB2 | RHEBL1 | psi-mi:“MI:0915”(physical association) | 0.000 |
BioGRID (14): RHEBL1 (Affinity Capture-Western), RHEBL1 (Two-hybrid), RHEBL1 (Two-hybrid), RHEBL1 (Two-hybrid), RHEBL1 (Two-hybrid), FHL3 (Two-hybrid), RHEBL1 (Two-hybrid), RHEBL1 (Affinity Capture-RNA), TRAF2 (Affinity Capture-Western), Appl1 (Two-hybrid), Blzf1 (Two-hybrid), Traf2 (Two-hybrid), TXNL4A (Two-hybrid), RHEBL1 (Two-hybrid)
ESM2 similar proteins: A1DZY4, A6QP66, O35626, P0C0E4, P51157, P51158, P55040, P55041, P57729, P63032, P63033, P70425, Q06AU5, Q0VCJ7, Q12829, Q13637, Q19143, Q3SWY9, Q5BJQ5, Q5E9J3, Q5FVY2, Q5R541, Q5RFI2, Q6DGN0, Q6IMA3, Q6IMA7, Q6IMB1, Q6P0U3, Q6T310, Q7TNZ5, Q7YS69, Q8AVS6, Q8QZZ8, Q8R367, Q8TAI7, Q8VHP8, Q8VHQ4, Q8WXH6, Q922H7, Q92730
Diamond homologs: A1DZY4, A6QP66, A8NU18, C4YKT4, O08989, O14807, O35929, O88667, O93856, O94363, P01119, P03967, P08645, P08647, P0CY32, P10114, P10536, P11233, P11234, P15064, P17609, P22124, P22126, P22278, P22279, P22280, P28775, P32254, P36860, P36863, P48555, P59279, P61105, P61225, P61226, P61227, P62070, P62071, P63320, P63321
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
24 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 12 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1229 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 12:49065188:GTCAG:G | acceptor_gain | 1.0000 |
| 12:49065189:TCAG:T | acceptor_gain | 1.0000 |
| 12:49065190:CAG:C | acceptor_gain | 1.0000 |
| 12:49065190:CAGC:C | acceptor_gain | 1.0000 |
| 12:49065191:AG:A | acceptor_gain | 1.0000 |
| 12:49065192:GCTA:G | acceptor_loss | 1.0000 |
| 12:49065193:C:CC | acceptor_gain | 1.0000 |
| 12:49065195:A:C | acceptor_gain | 1.0000 |
| 12:49065325:C:A | donor_gain | 1.0000 |
| 12:49069027:CTACT:C | donor_loss | 1.0000 |
| 12:49069029:ACT:A | donor_loss | 1.0000 |
| 12:49069030:C:CA | donor_loss | 1.0000 |
| 12:49069031:TCA:T | donor_loss | 1.0000 |
| 12:49069032:CA:C | donor_loss | 1.0000 |
| 12:49069033:A:AC | donor_gain | 1.0000 |
| 12:49069033:A:T | donor_loss | 1.0000 |
| 12:49069034:C:CA | donor_gain | 1.0000 |
| 12:49069034:CT:C | donor_gain | 1.0000 |
| 12:49069034:CTA:C | donor_gain | 1.0000 |
| 12:49069034:CTAT:C | donor_gain | 1.0000 |
| 12:49069034:CTATT:C | donor_gain | 1.0000 |
| 12:49069183:C:CT | acceptor_gain | 1.0000 |
| 12:49069183:C:T | acceptor_gain | 1.0000 |
| 12:49065195:A:AC | acceptor_gain | 0.9900 |
| 12:49065321:ACCAC:A | donor_gain | 0.9900 |
| 12:49065322:CCACC:C | donor_gain | 0.9900 |
| 12:49065451:A:C | acceptor_gain | 0.9900 |
| 12:49066276:ACCCT:A | acceptor_loss | 0.9900 |
| 12:49066277:CC:C | acceptor_gain | 0.9900 |
| 12:49066277:CCCTG:C | acceptor_loss | 0.9900 |
AlphaMissense
1183 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 12:49066532:G:C | S92R | 0.992 |
| 12:49066532:G:T | S92R | 0.992 |
| 12:49066620:T:G | S92R | 0.992 |
| 12:49069100:G:A | T20I | 0.991 |
| 12:49069066:G:C | F31L | 0.990 |
| 12:49069066:G:T | F31L | 0.990 |
| 12:49069068:A:G | F31L | 0.990 |
| 12:49069104:T:G | K19Q | 0.990 |
| 12:49066251:C:A | K120N | 0.989 |
| 12:49066251:C:G | K120N | 0.989 |
| 12:49069748:C:T | G13E | 0.988 |
| 12:49069749:C:G | G13R | 0.988 |
| 12:49069749:C:T | G13R | 0.988 |
| 12:49066638:A:G | S86P | 0.987 |
| 12:49066655:C:T | G80D | 0.987 |
| 12:49069102:C:A | K19N | 0.987 |
| 12:49069102:C:G | K19N | 0.987 |
| 12:49066267:A:T | V115D | 0.986 |
| 12:49069734:C:G | G18R | 0.985 |
| 12:49069734:C:T | G18R | 0.985 |
| 12:49066987:A:G | L58P | 0.983 |
| 12:49069103:T:A | K19M | 0.982 |
| 12:49069734:C:A | G18W | 0.982 |
| 12:49066982:C:G | D60H | 0.981 |
| 12:49066993:A:G | L56P | 0.980 |
| 12:49066998:A:C | F54L | 0.980 |
| 12:49066998:A:T | F54L | 0.980 |
| 12:49067000:A:G | F54L | 0.980 |
| 12:49069106:C:T | G18E | 0.980 |
| 12:49065377:A:C | F145L | 0.979 |
dbSNP variants (sampled 300 via entrez): RS1000129717 (12:49070914 C>T), RS1000172834 (12:49067378 C>T), RS1000836120 (12:49067652 T>C), RS1000897758 (12:49065175 G>A), RS1001116367 (12:49070314 G>C), RS1001240129 (12:49065605 A>G), RS1001440527 (12:49069314 G>A,C,T), RS1002069365 (12:49064668 A>G,T), RS1002120346 (12:49071862 C>T), RS1002187219 (12:49070388 T>C), RS1002441387 (12:49065020 G>A,C), RS1002797906 (12:49068976 G>A), RS1002977565 (12:49065523 C>T), RS1004087444 (12:49068113 C>A), RS1004375966 (12:49070307 C>G,T)
Disease associations
OMIM: gene MIM:618956 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
4 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST004139_23 | Bipolar disorder | 6.000000e-08 |
| GCST006268_245 | Reaction time | 9.000000e-09 |
| GCST008103_109 | Bipolar disorder | 4.000000e-06 |
| GCST011102_16 | Bipolar disorder | 3.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008393 | reaction time measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
41 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, increases abundance, increases expression | 3 |
| Arsenic | affects expression, affects methylation, decreases expression, increases abundance | 3 |
| Valproic Acid | affects expression, increases expression | 3 |
| trichostatin A | affects expression, increases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Benzo(a)pyrene | increases expression, increases methylation | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Particulate Matter | increases abundance, increases expression | 2 |
| GSK-J4 | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| methyleugenol | increases expression | 1 |
| sulforaphane | increases expression | 1 |
| butyraldehyde | increases expression | 1 |
| nickel sulfate | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| 2-palmitoylglycerol | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| abrine | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| jinfukang | increases expression | 1 |
| NSC668394 | increases expression | 1 |
| Air Pollutants | increases abundance, increases expression | 1 |
| Amiodarone | increases expression | 1 |
| Cadmium | decreases expression | 1 |
| Drugs, Chinese Herbal | increases expression | 1 |
| Estradiol | increases expression, affects cotreatment | 1 |
| Ethyl Methanesulfonate | increases expression | 1 |
| Formaldehyde | increases expression | 1 |
| Methyl Methanesulfonate | 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.