RASL11B
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Summary
RASL11B (RAS like family 11 member B, HGNC:23804) is a protein-coding gene on chromosome 4q12, encoding Ras-like protein family member 11B (Q9BPW5).
Predicted to enable G protein activity; GTP binding activity; and transforming growth factor beta receptor binding activity. Predicted to act upstream of or within negative regulation of transforming growth factor beta receptor signaling pathway.
Source: NCBI Gene 65997 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 30 total
- MANE Select transcript:
NM_023940
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23804 |
| Approved symbol | RASL11B |
| Name | RAS like family 11 member B |
| Location | 4q12 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000128045 |
| Ensembl biotype | protein_coding |
| OMIM | 612404 |
| Entrez | 65997 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 1 protein_coding, 1 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000248706, ENST00000505041, ENST00000515677
RefSeq mRNA: 1 — MANE Select: NM_023940
NM_023940
CCDS: CCDS3490
Canonical transcript exons
ENST00000248706 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000916850 | 52863268 | 52863324 |
| ENSE00000969361 | 52862317 | 52862649 |
| ENSE00000969362 | 52865335 | 52866835 |
| ENSE00003570824 | 52864478 | 52864554 |
Expression profiles
Bgee: expression breadth ubiquitous, 155 present calls, max score 93.20.
FANTOM5 (CAGE): breadth broad, TPM avg 2.4599 / max 96.1561, expressed in 538 samples.
FANTOM5 promoters (1 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 47614 | 2.4599 | 538 |
Top tissues by expression
245 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| right ovary | UBERON:0002118 | 93.20 | gold quality |
| left ovary | UBERON:0002119 | 92.90 | gold quality |
| metanephros cortex | UBERON:0010533 | 89.30 | gold quality |
| cortical plate | UBERON:0005343 | 88.59 | gold quality |
| spleen | UBERON:0002106 | 86.24 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 84.63 | gold quality |
| cerebellar cortex | UBERON:0002129 | 84.55 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 84.46 | gold quality |
| ovary | UBERON:0000992 | 84.39 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 84.16 | gold quality |
| right coronary artery | UBERON:0001625 | 84.12 | gold quality |
| ganglionic eminence | UBERON:0004023 | 83.74 | gold quality |
| embryo | UBERON:0000922 | 83.73 | gold quality |
| stromal cell of endometrium | CL:0002255 | 83.41 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.22 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.17 | gold quality |
| left coronary artery | UBERON:0001626 | 82.98 | gold quality |
| cerebellum | UBERON:0002037 | 82.21 | gold quality |
| popliteal artery | UBERON:0002250 | 81.99 | gold quality |
| tibial artery | UBERON:0007610 | 81.97 | gold quality |
| right frontal lobe | UBERON:0002810 | 81.75 | gold quality |
| apex of heart | UBERON:0002098 | 81.57 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.16 | gold quality |
| coronary artery | UBERON:0001621 | 80.77 | gold quality |
| right atrium auricular region | UBERON:0006631 | 80.24 | gold quality |
| aorta | UBERON:0000947 | 80.17 | gold quality |
| cardiac atrium | UBERON:0002081 | 79.23 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 78.51 | gold quality |
| thoracic aorta | UBERON:0001515 | 78.29 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 78.25 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-5 | yes | 18.95 |
| E-ANND-3 | yes | 13.18 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): GLI1
miRNA regulators (miRDB)
75 targeting RASL11B, 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-3163 | 100.00 | 77.23 | 8605 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-2110 | 99.96 | 66.68 | 1930 |
| HSA-LET-7C-3P | 99.95 | 73.42 | 2862 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-106A-5P | 99.90 | 73.94 | 2683 |
| HSA-MIR-3686 | 99.90 | 70.53 | 2432 |
| HSA-MIR-17-5P | 99.89 | 73.83 | 2665 |
| HSA-MIR-6783-3P | 99.89 | 67.92 | 2059 |
| HSA-MIR-1343-3P | 99.89 | 66.78 | 1815 |
| HSA-MIR-106B-5P | 99.88 | 74.72 | 2795 |
| HSA-MIR-20A-5P | 99.88 | 74.76 | 2769 |
| HSA-MIR-20B-5P | 99.88 | 74.01 | 2621 |
| HSA-MIR-519D-3P | 99.88 | 73.97 | 2607 |
| HSA-MIR-526B-3P | 99.88 | 74.06 | 2587 |
| HSA-MIR-93-5P | 99.88 | 73.98 | 2606 |
| HSA-LET-7A-2-3P | 99.87 | 70.53 | 1921 |
| HSA-MIR-6124 | 99.87 | 69.78 | 3551 |
| HSA-LET-7G-3P | 99.85 | 70.43 | 1929 |
| HSA-MIR-205-5P | 99.81 | 70.05 | 1557 |
| HSA-MIR-4668-5P | 99.79 | 70.58 | 3782 |
| HSA-MIR-1299 | 99.77 | 71.24 | 2389 |
| HSA-MIR-6794-5P | 99.76 | 66.38 | 1048 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-4255 | 99.72 | 67.70 | 1541 |
| HSA-MIR-4716-3P | 99.69 | 66.73 | 1022 |
| HSA-MIR-519A-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519B-3P | 99.67 | 71.67 | 1868 |
| HSA-MIR-519C-3P | 99.67 | 71.67 | 1870 |
| HSA-MIR-875-3P | 99.63 | 69.47 | 2548 |
Literature-anchored findings (GeneRIF, showing 4)
- RASL11B gene is expressed in all tissues investigated, with highest levels in placenta & primary macrophages. RASL11B may play a role in TGF-beta1-mediated developmental processes & in pathophysiologies such as inflammation, cancer, and arteriosclerosis. (PMID:17628721)
- MEG3 could up-regulate RASL11B to inhibit the cell proliferation, invasion, and migration; induce G0/G1 cell cycle arrest; and promote cell apoptosis by suppressing miR-7 in clear cell renal cell carcinoma. (PMID:29968912)
- the present study identified a novel significant association between the increased expression levels of MAPK10, TUBB2B and RASL11B, and neuroblastoma cells. (PMID:31432180)
- RASL11B gene enhances hyaluronic acid-mediated chondrogenic differentiation in human amniotic mesenchymal stem cells via the activation of Sox9/ERK/smad signals. (PMID:32878463)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | rasl11b | ENSDARG00000015611 |
| mus_musculus | Rasl11b | ENSMUSG00000049907 |
| rattus_norvegicus | Rasl11b | ENSRNOG00000002097 |
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), 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
Ras-like protein family member 11B — Q9BPW5 (reviewed: Q9BPW5)
All UniProt accessions (1): Q9BPW5
UniProt curated annotations — full annotation on UniProt →
Tissue specificity. Widely expressed with highest levels in placenta and primary macrophages.
Induction. By TGFB1.
Similarity. Belongs to the small GTPase superfamily. Ras family.
RefSeq proteins (1): NP_076429* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001806 | Small_GTPase | Family |
| IPR005225 | Small_GTP-bd | Domain |
| IPR027417 | P-loop_NTPase | Homologous_superfamily |
| IPR051065 | Ras-related_GTPase | Family |
Pfam: PF00071
Catalyzed reactions (Rhea), 1 shown:
- GTP + H2O = GDP + phosphate + H(+) (RHEA:19669)
UniProt features (8 total): binding site 3, region of interest 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9BPW5-F1 | 79.69 | 0.52 |
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): 40–47; 87–94; 152–155
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 182 (showing top):
SHEPARD_BMYB_MORPHOLINO_UP, GOBP_REGULATION_OF_CELLULAR_RESPONSE_TO_GROWTH_FACTOR_STIMULUS, TGCACTT_MIR519C_MIR519B_MIR519A, SHEPARD_CRASH_AND_BURN_MUTANT_UP, GGGTGGRR_PAX4_03, MARTINEZ_RB1_TARGETS_UP, MUELLER_PLURINET, GERY_CEBP_TARGETS, GOBP_REGULATION_OF_TRANSMEMBRANE_RECEPTOR_PROTEIN_SERINE_THREONINE_KINASE_SIGNALING_PATHWAY, YY1_02, GOBP_RESPONSE_TO_TRANSFORMING_GROWTH_FACTOR_BETA, SCHAEFFER_PROSTATE_DEVELOPMENT_12HR_UP, SCHAEFFER_PROSTATE_DEVELOPMENT_48HR_UP, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_5, TGANTCA_AP1_C
GO Biological Process (1): negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)
GO Molecular Function (7): G protein activity (GO:0003925), transforming growth factor beta receptor binding (GO:0005160), GTP binding (GO:0005525), nucleotide binding (GO:0000166), GTPase activity (GO:0003924), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (0):
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| transforming growth factor beta receptor signaling pathway | 1 |
| regulation of transforming growth factor beta receptor signaling pathway | 1 |
| negative regulation of transmembrane receptor protein serine/threonine kinase signaling pathway | 1 |
| GTPase activity | 1 |
| molecular function regulator activity | 1 |
| cytokine receptor binding | 1 |
| guanyl ribonucleotide binding | 1 |
| purine ribonucleoside triphosphate binding | 1 |
| nucleoside phosphate binding | 1 |
| heterocyclic compound binding | 1 |
| ribonucleoside triphosphate phosphatase activity | 1 |
| binding | 1 |
| catalytic activity | 1 |
Protein interactions and networks
STRING
1792 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| RASL11B | ARL9 | Q6T311 | 851 |
| RASL11B | TGFB1 | P01137 | 481 |
| RASL11B | SYDE2 | Q5VT97 | 470 |
| RASL11B | CCDC125 | Q86Z20 | 454 |
| RASL11B | ARRDC2 | Q8TBH0 | 443 |
| RASL11B | RFT1 | Q96AA3 | 431 |
| RASL11B | CNKSR1 | Q969H4 | 423 |
| RASL11B | RHOF | Q9HBH0 | 410 |
| RASL11B | RASSF1 | Q9NS23 | 380 |
| RASL11B | POLR2B | P30876 | 377 |
| RASL11B | DEPDC7 | Q96QD5 | 376 |
| RASL11B | GTPBP4 | Q9BZE4 | 372 |
| RASL11B | SLC35E3 | Q7Z769 | 369 |
| RASL11B | ABHD12B | Q7Z5M8 | 367 |
| RASL11B | LRRC25 | Q8N386 | 364 |
| RASL11B | SPEF1 | Q9Y4P9 | 364 |
IntAct
128 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| MAGI1 | RASL11B | psi-mi:“MI:0915”(physical association) | 0.560 |
| GEMIN6 | RASL11B | psi-mi:“MI:0915”(physical association) | 0.560 |
| RASL11B | MAGI2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | MAGI3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | MAGI1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | LNX2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | ARHGEF12 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | GORASP2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLG1 | RASL11B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TAMALIN | RASL11B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | TAX1BP3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| ARHGEF11 | RASL11B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | PATJ | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| RASL11B | PDZD2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (21): RASL11B (Two-hybrid), RASL11B (Reconstituted Complex), RASL11B (Reconstituted Complex), MAGI1 (Two-hybrid), GEMIN6 (Two-hybrid), LTF (Affinity Capture-MS), PPM1B (Affinity Capture-MS), PPM1A (Affinity Capture-MS), RAP1GDS1 (Affinity Capture-MS), BPIFA1 (Affinity Capture-MS), MUC5AC (Affinity Capture-MS), SCGB2A1 (Affinity Capture-MS), BPIFB1 (Affinity Capture-MS), RASL11B (Proximity Label-MS), RASL11B (Proximity Label-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: 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.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 79 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 57.1× | 8e-07 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 54.4× | 8e-07 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 54.4× | 8e-07 |
| Assembly and cell surface presentation of NMDA receptors | 10 | 50.8× | 3e-13 |
| Dopamine Neurotransmitter Release Cycle | 5 | 49.6× | 1e-06 |
| Long-term potentiation | 5 | 47.6× | 1e-06 |
| Neurexins and neuroligins | 11 | 43.3× | 1e-13 |
| Protein-protein interactions at synapses | 7 | 37.2× | 4e-08 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 76.5× | 2e-14 |
| protein localization to synapse | 6 | 60.5× | 8e-08 |
| receptor clustering | 7 | 57.5× | 6e-09 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 39.1× | 7e-07 |
| protein-containing complex assembly | 9 | 13.5× | 1e-06 |
| cell-cell adhesion | 10 | 13.4× | 3e-07 |
| regulation of small GTPase mediated signal transduction | 5 | 9.5× | 3e-03 |
| protein localization to plasma membrane | 5 | 7.2× | 9e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
30 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 28 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
337 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 4:52862645:GACCG:G | donor_gain | 1.0000 |
| 4:52862647:CCG:C | donor_gain | 1.0000 |
| 4:52862650:G:GG | donor_gain | 1.0000 |
| 4:52862651:T:G | donor_loss | 1.0000 |
| 4:52863258:T:A | acceptor_gain | 1.0000 |
| 4:52863261:C:A | acceptor_gain | 1.0000 |
| 4:52863262:GTGCA:G | acceptor_loss | 1.0000 |
| 4:52863263:T:TA | acceptor_gain | 1.0000 |
| 4:52863263:TGCA:T | acceptor_loss | 1.0000 |
| 4:52863264:GCA:G | acceptor_loss | 1.0000 |
| 4:52863265:CAGCA:C | acceptor_loss | 1.0000 |
| 4:52863266:A:AG | acceptor_gain | 1.0000 |
| 4:52863266:A:C | acceptor_loss | 1.0000 |
| 4:52863267:G:A | acceptor_loss | 1.0000 |
| 4:52863267:G:GA | acceptor_gain | 1.0000 |
| 4:52863267:GC:G | acceptor_gain | 1.0000 |
| 4:52863267:GCA:G | acceptor_gain | 1.0000 |
| 4:52863267:GCAC:G | acceptor_gain | 1.0000 |
| 4:52863267:GCACT:G | acceptor_gain | 1.0000 |
| 4:52863322:CAGG:C | donor_loss | 1.0000 |
| 4:52863323:AGG:A | donor_loss | 1.0000 |
| 4:52863324:GGTG:G | donor_loss | 1.0000 |
| 4:52863325:GTGA:G | donor_loss | 1.0000 |
| 4:52863326:T:A | donor_loss | 1.0000 |
| 4:52864476:AGG:A | acceptor_loss | 1.0000 |
| 4:52864477:GGTA:G | acceptor_gain | 1.0000 |
| 4:52865329:TTTCA:T | acceptor_loss | 1.0000 |
| 4:52865333:A:AG | acceptor_gain | 1.0000 |
| 4:52865333:AGG:A | acceptor_loss | 1.0000 |
| 4:52865334:G:GC | acceptor_gain | 1.0000 |
AlphaMissense
1622 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 4:52862647:C:T | T47I | 1.000 |
| 4:52863297:T:C | F58L | 1.000 |
| 4:52863299:C:A | F58L | 1.000 |
| 4:52863299:C:G | F58L | 1.000 |
| 4:52865516:A:T | K153I | 1.000 |
| 4:52865517:A:C | K153N | 1.000 |
| 4:52865517:A:T | K153N | 1.000 |
| 4:52865525:T:C | L156P | 1.000 |
| 4:52862625:G:C | G40R | 0.999 |
| 4:52862640:G:C | G45R | 0.999 |
| 4:52862641:G:A | G45D | 0.999 |
| 4:52862641:G:T | G45V | 0.999 |
| 4:52863280:G:C | R52P | 0.999 |
| 4:52863289:C:T | T55I | 0.999 |
| 4:52863295:G:C | R57P | 0.999 |
| 4:52863298:T:C | F58S | 0.999 |
| 4:52863298:T:G | F58C | 0.999 |
| 4:52864532:T:A | V85D | 0.999 |
| 4:52865395:G:C | A113P | 0.999 |
| 4:52865413:T:C | S119P | 0.999 |
| 4:52865431:A:C | S125R | 0.999 |
| 4:52865433:C:A | S125R | 0.999 |
| 4:52865433:C:G | S125R | 0.999 |
| 4:52865522:A:C | D155A | 0.999 |
| 4:52865522:A:G | D155G | 0.999 |
| 4:52865603:C:T | S182F | 0.999 |
| 4:52862617:C:A | A37D | 0.998 |
| 4:52862626:G:A | G40D | 0.998 |
| 4:52862640:G:T | G45C | 0.998 |
| 4:52862644:A:T | K46M | 0.998 |
dbSNP variants (sampled 300 via entrez): RS1000144761 (4:52862193 G>C,T), RS1000512547 (4:52864301 G>A,T), RS1000515006 (4:52862230 G>A), RS1001113898 (4:52861630 C>G,T), RS1001172840 (4:52862124 T>A,C,G), RS1001292166 (4:52862201 C>A,G,T), RS1001339249 (4:52867214 C>T), RS1001342112 (4:52861960 C>A), RS1002179913 (4:52862799 C>A), RS1002274285 (4:52860985 C>G), RS1002347793 (4:52860729 GGAAA>G), RS1002848056 (4:52861170 C>G), RS1002962628 (4:52861383 G>A,C), RS1004677938 (4:52864714 G>A), RS1004685817 (4:52866601 G>A)
Disease associations
OMIM: gene MIM:612404 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST003811_5 | Response to citalopram or escitalopram and depression | 8.000000e-07 |
| GCST009391_395 | Metabolite levels | 9.000000e-06 |
| GCST009545_4 | Moderate or severe prolonged lymphopenia in dimethyl fumarate-treated relapsing-remitting multiple sclerosis | 3.000000e-06 |
| GCST010699_75 | Brain morphology (min-P) | 3.000000e-18 |
| GCST010701_71 | Cortical surface area (MOSTest) | 2.000000e-09 |
| GCST010702_63 | Subcortical volume (MOSTest) | 8.000000e-12 |
| GCST010703_102 | Brain morphology (MOSTest) | 6.000000e-21 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0010437 | triacylglycerol 58:10 measurement |
| EFO:0004346 | neuroimaging measurement |
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 | 7 |
| Benzo(a)pyrene | affects methylation, decreases expression, increases methylation | 3 |
| entinostat | increases expression, affects cotreatment | 2 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Calcitriol | decreases expression, affects cotreatment | 2 |
| Ethinyl Estradiol | decreases expression, affects expression | 2 |
| Phenylmercuric Acetate | increases expression, affects cotreatment | 2 |
| methylmercuric chloride | increases expression | 1 |
| bisphenol A | increases methylation, affects cotreatment | 1 |
| lead acetate | increases expression | 1 |
| sodium arsenate | increases abundance, increases expression | 1 |
| 2-methyl-4-isothiazolin-3-one | increases expression | 1 |
| trichostatin A | increases expression | 1 |
| arsenite | increases methylation | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| 2,3-bis(3’-hydroxybenzyl)butyrolactone | affects cotreatment, decreases expression | 1 |
| M-VAC protocol | increases response to substance | 1 |
| beta-methylcholine | affects expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| dorsomorphin | affects cotreatment, increases expression | 1 |
| Decitabine | affects expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arsenic | increases abundance, increases expression | 1 |
| Cadmium | increases abundance, increases expression | 1 |
| Cisplatin | affects expression | 1 |
| Copper | affects binding, decreases expression | 1 |
Clinical trials (associated diseases)
0 trials via MONDO — disease-level, not drug-specific.
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): lymphopenia, mood disorder