LANCL2
gene geneOn this page
Also known as TASP
Summary
LANCL2 (LanC like glutathione S-transferase 2, HGNC:6509) is a protein-coding gene on chromosome 7p11.2, encoding LanC-like protein 2 (Q9NS86). Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes.
Enables phosphatidylinositol-3-phosphate binding activity; phosphatidylinositol-4-phosphate binding activity; and phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of DNA-templated transcription and positive regulation of abscisic acid-activated signaling pathway. Located in several cellular components, including cortical actin cytoskeleton; cytosol; and nucleoplasm.
Source: NCBI Gene 55915 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 83 total
- Druggable target: yes — 1 molecules with ChEMBL bioactivity
- MANE Select transcript:
NM_018697
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6509 |
| Approved symbol | LANCL2 |
| Name | LanC like glutathione S-transferase 2 |
| Location | 7p11.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | TASP |
| Ensembl gene | ENSG00000132434 |
| Ensembl biotype | protein_coding |
| OMIM | 612919 |
| Entrez | 55915 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 6 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000254770, ENST00000452107, ENST00000466041, ENST00000476479, ENST00000486376, ENST00000872235, ENST00000872236, ENST00000916639, ENST00000952390, ENST00000952391
RefSeq mRNA: 1 — MANE Select: NM_018697
NM_018697
CCDS: CCDS5517
Canonical transcript exons
ENST00000254770 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001175819 | 55431226 | 55433737 |
| ENSE00001243070 | 55365337 | 55366229 |
| ENSE00003476274 | 55428375 | 55428447 |
| ENSE00003485538 | 55391793 | 55391910 |
| ENSE00003530655 | 55401174 | 55401320 |
| ENSE00003586545 | 55425254 | 55425430 |
| ENSE00003589486 | 55398423 | 55398630 |
| ENSE00003666733 | 55399957 | 55400104 |
| ENSE00003692203 | 55411907 | 55412089 |
Expression profiles
Bgee: expression breadth ubiquitous, 260 present calls, max score 93.96.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 14.6456 / max 100.4753, expressed in 1810 samples.
FANTOM5 promoters (12 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 78734 | 8.5546 | 1796 |
| 78728 | 2.8328 | 972 |
| 78735 | 2.5436 | 1102 |
| 78731 | 0.1973 | 116 |
| 78727 | 0.1215 | 48 |
| 78729 | 0.1166 | 59 |
| 78732 | 0.0971 | 39 |
| 78730 | 0.0842 | 35 |
| 78739 | 0.0514 | 18 |
| 78736 | 0.0234 | 1 |
Top tissues by expression
282 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 93.96 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 92.74 | gold quality |
| primordial germ cell in gonad | CL:0000670 ∩ UBERON:0000991 | 91.86 | gold quality |
| entorhinal cortex | UBERON:0002728 | 91.67 | gold quality |
| postcentral gyrus | UBERON:0002581 | 91.32 | gold quality |
| parietal lobe | UBERON:0001872 | 91.21 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 90.67 | gold quality |
| prefrontal cortex | UBERON:0000451 | 90.22 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 90.18 | gold quality |
| sperm | CL:0000019 | 90.16 | gold quality |
| endothelial cell | CL:0000115 | 89.50 | gold quality |
| temporal lobe | UBERON:0001871 | 89.46 | gold quality |
| frontal cortex | UBERON:0001870 | 88.85 | gold quality |
| neocortex | UBERON:0001950 | 88.50 | gold quality |
| cerebral cortex | UBERON:0000956 | 88.29 | gold quality |
| pons | UBERON:0000988 | 88.29 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 88.27 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 88.21 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.08 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 88.08 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 88.01 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 87.93 | gold quality |
| cingulate cortex | UBERON:0003027 | 87.87 | gold quality |
| telencephalon | UBERON:0001893 | 87.84 | gold quality |
| male germ cell | CL:0000015 | 87.78 | gold quality |
| primary visual cortex | UBERON:0002436 | 87.77 | gold quality |
| amygdala | UBERON:0001876 | 87.65 | gold quality |
| corpus callosum | UBERON:0002336 | 87.51 | gold quality |
| left testis | UBERON:0004533 | 87.41 | gold quality |
| occipital lobe | UBERON:0002021 | 87.28 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 1.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 4.41 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
83 targeting LANCL2, 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-4692 | 100.00 | 67.32 | 2066 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| 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-4514 | 99.99 | 67.10 | 1870 |
| HSA-MIR-4282 | 99.99 | 75.36 | 6408 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-LET-7F-2-3P | 99.98 | 70.98 | 2588 |
| HSA-MIR-1185-1-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-1185-2-3P | 99.98 | 71.04 | 2593 |
| HSA-MIR-4789-5P | 99.98 | 70.76 | 2721 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-3065-5P | 99.97 | 71.56 | 3281 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-MIR-493-5P | 99.96 | 72.47 | 2382 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-3119 | 99.92 | 71.34 | 2390 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-5680 | 99.91 | 69.83 | 3421 |
| HSA-MIR-4753-3P | 99.90 | 71.03 | 3786 |
| HSA-MIR-3671 | 99.90 | 73.04 | 3897 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-4302 | 99.89 | 67.94 | 1187 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-5003-3P | 99.85 | 69.29 | 2517 |
| HSA-MIR-3681-5P | 99.82 | 66.88 | 387 |
| HSA-MIR-6756-5P | 99.82 | 67.97 | 2466 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
Literature-anchored findings (GeneRIF, showing 13)
- cDNA cloned and characterized. May play a role as a component of a peptide-modifying complex (PMID:11762191)
- Lanthionine synthetase components C-like 2 increases cellular sensitivity to adriamycin by decreasing the expression of P-glycoprotein through a transcription-mediated mechanism. (PMID:12566319)
- Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia. (PMID:19165527)
- Data show that lanthionine synthetase C-like protein (LANCL2) is required for abscisic acid binding on human granulocyte membranes and that LANCL2 is necessary for transduction of the ABA signal into granulocytes and rat insulinoma cells. (PMID:19667068)
- Molecular docking studies predict that ABA and other PPAR gamma agonists (e.g., rosiglitazone and pioglitazone) share a binding site on the surface of LANCL2. (PMID:20512604)
- human recombinant LANCL2 binds abscisic acid (ABA) directly and provide the first demonstration of ABA binding to a mammalian ABA receptor. (PMID:22037458)
- Data indicate that lanthionine synthetase C-like 2 (LanCL2) depletion sensitizes cells to apoptosis through down-regulating serine/threonine protein kinase Akt phosphorylation. (PMID:25273559)
- human LANCL2 is a non-transmembrane G protein-coupled receptor susceptible to hormone-induced nuclear translocation. (PMID:27222287)
- Site-directed mutagenesis (single mutant R118I, triple mutants R118I/R22I/K362I and R118I/S41A/E46I) and equilibrium binding experiments on the mutated LANCL2 proteins identified a high-affinity ABA-binding site involving R118, with a KD of 2.6nM+/-1.2nM, as determined by surface plasmon resonance. (PMID:29421190)
- Abscisic acid enriched fig extract promotes insulin sensitivity by decreasing systemic inflammation and activating LANCL2 in skeletal muscle. (PMID:32591558)
- Akt kinase LANCL2 functions as a key driver in EGFR-mutant lung adenocarcinoma tumorigenesis. (PMID:33568630)
- Identification of prognostic values defined by copy number variation, mRNA and protein expression of LANCL2 and EGFR in glioblastoma patients. (PMID:34461927)
- Abscisic acid signaling through LANCL2 and PPARgamma induces activation of p38MAPK resulting in dormancy of prostate cancer metastatic cells. (PMID:38624012)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lancl2 | ENSDARG00000045465 |
| mus_musculus | Lancl2 | ENSMUSG00000062190 |
| rattus_norvegicus | Lancl2 | ENSRNOG00000006810 |
| drosophila_melanogaster | CG2061 | FBGN0027498 |
Paralogs (2): LANCL1 (ENSG00000115365), LANCL3 (ENSG00000147036)
Protein
Protein identifiers
LanC-like protein 2 — Q9NS86 (reviewed: Q9NS86)
Alternative names: Testis-specific adriamycin sensitivity protein
All UniProt accessions (2): Q9NS86, H7BZ40
UniProt curated annotations — full annotation on UniProt →
Function. Necessary for abscisic acid (ABA) binding on the cell membrane and activation of the ABA signaling pathway in granulocytes.
Subunit / interactions. Interacts with an array of inositol phospholipids such as phosphatidylinositol 3-phosphate (PI3P), phosphatidylinositol 4-phosphate (PI4P) and phosphatidylinositol 5-phosphate (PI5P). PIP-binding enhances membrane association.
Subcellular location. Nucleus. Cytoplasm. Cell membrane.
Tissue specificity. Expressed in brain and testis.
Post-translational modifications. Myristoylated. Essential for membrane association.
Miscellaneous. Its exogenous expression in a sarcoma cell line decreases the expression of ABCB1 (P-glycoprotein 1) and increases cellular sensitivity to an anticancer drug (adriamycin).
Similarity. Belongs to the LanC-like protein family.
RefSeq proteins (1): NP_061167* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR007822 | LANC-like | Family |
| IPR012341 | 6hp_glycosidase-like_sf | Homologous_superfamily |
| IPR020464 | LanC-like_prot_euk | Family |
Pfam: PF05147
UniProt features (39 total): helix 19, turn 8, strand 4, sequence variant 2, initiator methionine 1, chain 1, region of interest 1, modified residue 1, lipid moiety-binding region 1, mutagenesis site 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 6WQ1 | X-RAY DIFFRACTION | 2.29 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NS86-F1 | 92.37 | 0.87 |
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 (2): 198, 2
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 2 | loss of membrane localization and results in localization to the nucleus, particularly to the nucleoli. |
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 201 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, MODULE_255, GOBP_CELLULAR_RESPONSE_TO_LIPID, GRAESSMANN_APOPTOSIS_BY_DOXORUBICIN_DN, GRAESSMANN_RESPONSE_TO_MC_AND_DOXORUBICIN_DN, MODULE_317, GOBP_CELLULAR_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GOBP_PEPTIDE_METABOLIC_PROCESS, MARTINEZ_RB1_TARGETS_UP, GOBP_HORMONE_MEDIATED_SIGNALING_PATHWAY, GOBP_CELLULAR_RESPONSE_TO_HORMONE_STIMULUS, FOSTER_TOLERANT_MACROPHAGE_UP, GOBP_CARBOHYDRATE_METABOLIC_PROCESS, GOBP_RESPONSE_TO_OXYGEN_CONTAINING_COMPOUND, GARY_CD5_TARGETS_DN
GO Biological Process (4): carbohydrate metabolic process (GO:0005975), positive regulation of abscisic acid-activated signaling pathway (GO:0009789), peptide modification (GO:0031179), negative regulation of DNA-templated transcription (GO:0045892)
GO Molecular Function (6): ATP binding (GO:0005524), GTP binding (GO:0005525), phosphatidylinositol-5-phosphate binding (GO:0010314), phosphatidylinositol-3-phosphate binding (GO:0032266), phosphatidylinositol-4-phosphate binding (GO:0070273), protein binding (GO:0005515)
GO Cellular Component (7): nucleus (GO:0005634), nucleoplasm (GO:0005654), cytosol (GO:0005829), plasma membrane (GO:0005886), cortical actin cytoskeleton (GO:0030864), cytoplasm (GO:0005737), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| phosphatidylinositol phosphate binding | 3 |
| purine ribonucleoside triphosphate binding | 2 |
| anion binding | 2 |
| primary metabolic process | 1 |
| abscisic acid-activated signaling pathway | 1 |
| regulation of abscisic acid-activated signaling pathway | 1 |
| positive regulation of signal transduction | 1 |
| peptide metabolic process | 1 |
| DNA-templated transcription | 1 |
| regulation of DNA-templated transcription | 1 |
| negative regulation of RNA biosynthetic process | 1 |
| adenyl ribonucleotide binding | 1 |
| guanyl ribonucleotide binding | 1 |
| binding | 1 |
| intracellular membrane-bounded organelle | 1 |
| nuclear lumen | 1 |
| cytoplasm | 1 |
| membrane | 1 |
| cell periphery | 1 |
| actin cytoskeleton | 1 |
| cortical cytoskeleton | 1 |
| intracellular anatomical structure | 1 |
Protein interactions and networks
STRING
620 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LANCL2 | EPS8 | Q12929 | 706 |
| LANCL2 | VOPP1 | Q96AW1 | 653 |
| LANCL2 | SEC61G | P38384 | 623 |
| LANCL2 | ECD | O95905 | 594 |
| LANCL2 | ABCB1 | P08183 | 584 |
| LANCL2 | SEPTIN14 | Q6ZU15 | 570 |
| LANCL2 | EGFR | P00533 | 543 |
| LANCL2 | VSTM2A | Q8TAG5 | 527 |
| LANCL2 | C7orf25 | Q9BPX7 | 413 |
| LANCL2 | PLEKHG5 | O94827 | 408 |
| LANCL2 | PSMD2 | Q13200 | 406 |
| LANCL2 | ZNF713 | Q8N859 | 398 |
| LANCL2 | SUMF2 | Q8NBJ7 | 385 |
| LANCL2 | MAP3K13 | O43283 | 376 |
| LANCL2 | ATP23 | Q9Y6H3 | 371 |
IntAct
66 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PCGF2 | CBX4 | psi-mi:“MI:0914”(association) | 0.840 |
| APPBP2 | LANCL2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| LANCL2 | APPBP2 | psi-mi:“MI:0915”(physical association) | 0.720 |
| TPM4 | TPM3 | psi-mi:“MI:0914”(association) | 0.670 |
| SIAH1 | LANCL2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LANCL2 | TDRKH | psi-mi:“MI:0915”(physical association) | 0.560 |
| DOK2 | NCK2 | psi-mi:“MI:0914”(association) | 0.530 |
| MINDY3 | UBB | psi-mi:“MI:0914”(association) | 0.530 |
| GSTM3 | ECT2L | psi-mi:“MI:0914”(association) | 0.530 |
| MRPS18C | MRPS14 | psi-mi:“MI:0914”(association) | 0.530 |
| GMFG | PRUNE1 | psi-mi:“MI:0914”(association) | 0.530 |
| LANCL2 | TERF2IP | psi-mi:“MI:0915”(physical association) | 0.510 |
| Eps8 | LANCL2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| TK2 | psi-mi:“MI:0915”(physical association) | 0.400 | |
| TERF2 | LANCL2 | psi-mi:“MI:0915”(physical association) | 0.370 |
| APBB1 | SSPOP | psi-mi:“MI:0914”(association) | 0.350 |
| FEZ1 | psi-mi:“MI:0914”(association) | 0.350 | |
| PVR | QSOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| KCNJ5 | ERI3 | psi-mi:“MI:0914”(association) | 0.350 |
| GMFG | HSPA14 | psi-mi:“MI:0914”(association) | 0.350 |
| OTUD5 | TP53 | psi-mi:“MI:0914”(association) | 0.350 |
| CIAO1 | SOX1 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SEPTIN8 | psi-mi:“MI:0914”(association) | 0.350 |
| MAPT | SHTN1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (110): LANCL2 (Two-hybrid), LANCL2 (Affinity Capture-RNA), LANCL2 (Affinity Capture-RNA), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Reconstituted Complex), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS), LANCL2 (Affinity Capture-MS)
ESM2 similar proteins: A1A5Y5, A2ACP1, B3MZN7, B3NY19, B4PYH5, B4S3A5, F1MVX2, F4IEM5, O01824, O43813, O65583, O74878, O89112, O94710, P56523, Q08DA5, Q25566, Q26609, Q28901, Q28D40, Q290Z2, Q29HZ1, Q2KNB7, Q55D85, Q5JVF3, Q5SRH9, Q5U3P0, Q623S8, Q6CUZ3, Q7K3B9, Q7K3M5, Q80VY9, Q8VYB2, Q8VZQ6, Q90ZL2, Q94263, Q9FJN7, Q9FKS0, Q9H6R0, Q9JJK2
Diamond homologs: F1MVX2, F4IEM5, O43813, O89112, Q29HZ1, Q6ZV70, Q8CD19, Q8VZQ6, Q90ZL2, Q9JJK2, Q9NS86, Q9QX69, Q9Y0Y7, Q9FJN7
SIGNOR signaling
0 interactions.
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 77 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 |
|---|---|---|---|
| Signaling by ALK fusions and activated point mutants | 6 | 18.4× | 4e-04 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
83 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 65 |
| Likely benign | 3 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1929 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 7:55391783:T:A | acceptor_gain | 1.0000 |
| 7:55391784:G:A | acceptor_gain | 1.0000 |
| 7:55391789:TCA:T | acceptor_loss | 1.0000 |
| 7:55391791:A:AG | acceptor_gain | 1.0000 |
| 7:55391792:G:GA | acceptor_gain | 1.0000 |
| 7:55391792:GA:G | acceptor_gain | 1.0000 |
| 7:55391792:GAT:G | acceptor_gain | 1.0000 |
| 7:55391792:GATC:G | acceptor_gain | 1.0000 |
| 7:55391792:GATCA:G | acceptor_gain | 1.0000 |
| 7:55398631:G:GG | donor_gain | 1.0000 |
| 7:55401169:TGTA:T | acceptor_loss | 1.0000 |
| 7:55401171:TAGG:T | acceptor_loss | 1.0000 |
| 7:55401173:G:A | acceptor_loss | 1.0000 |
| 7:55401173:GGTA:G | acceptor_gain | 1.0000 |
| 7:55410025:A:T | donor_gain | 1.0000 |
| 7:55411894:T:TA | acceptor_gain | 1.0000 |
| 7:55411898:T:A | acceptor_gain | 1.0000 |
| 7:55411902:TAAA:T | acceptor_loss | 1.0000 |
| 7:55411903:A:AG | acceptor_gain | 1.0000 |
| 7:55411903:AAAGC:A | acceptor_loss | 1.0000 |
| 7:55411904:A:G | acceptor_gain | 1.0000 |
| 7:55411904:AAG:A | acceptor_loss | 1.0000 |
| 7:55411904:AAGCC:A | acceptor_gain | 1.0000 |
| 7:55411905:A:C | acceptor_loss | 1.0000 |
| 7:55411905:A:G | acceptor_gain | 1.0000 |
| 7:55411905:AGCC:A | acceptor_gain | 1.0000 |
| 7:55411905:AGCCG:A | acceptor_gain | 1.0000 |
| 7:55411906:G:GT | acceptor_gain | 1.0000 |
| 7:55411906:GC:G | acceptor_gain | 1.0000 |
| 7:55411906:GCC:G | acceptor_gain | 1.0000 |
AlphaMissense
2903 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 7:55391902:G:A | G105D | 1.000 |
| 7:55401255:T:A | W254R | 1.000 |
| 7:55401255:T:C | W254R | 1.000 |
| 7:55401270:T:C | Y259H | 1.000 |
| 7:55401285:C:G | H264D | 1.000 |
| 7:55401287:T:A | H264Q | 1.000 |
| 7:55401287:T:G | H264Q | 1.000 |
| 7:55401289:G:A | G265D | 1.000 |
| 7:55412039:T:A | W320R | 1.000 |
| 7:55412039:T:C | W320R | 1.000 |
| 7:55412042:T:C | C321R | 1.000 |
| 7:55412043:G:A | C321Y | 1.000 |
| 7:55412043:G:T | C321F | 1.000 |
| 7:55412044:C:G | C321W | 1.000 |
| 7:55412045:C:G | H322D | 1.000 |
| 7:55412047:C:A | H322Q | 1.000 |
| 7:55412047:C:G | H322Q | 1.000 |
| 7:55425331:G:C | K362N | 1.000 |
| 7:55425331:G:T | K362N | 1.000 |
| 7:55425332:G:C | G363R | 1.000 |
| 7:55425344:T:C | C367R | 1.000 |
| 7:55425345:G:A | C367Y | 1.000 |
| 7:55425346:C:G | C367W | 1.000 |
| 7:55425347:C:G | H368D | 1.000 |
| 7:55425349:T:A | H368Q | 1.000 |
| 7:55425349:T:G | H368Q | 1.000 |
| 7:55425350:G:T | G369W | 1.000 |
| 7:55425351:G:A | G369E | 1.000 |
| 7:55428447:G:C | G420R | 1.000 |
| 7:55428447:G:T | G420C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000053898 (7:55413957 C>G), RS1000092055 (7:55375927 A>G), RS1000116584 (7:55391269 C>T), RS1000129356 (7:55410375 G>A), RS1000139555 (7:55423171 G>A), RS1000163669 (7:55379568 TCTG>T), RS1000326479 (7:55385724 T>C), RS1000366439 (7:55365347 G>T), RS1000435192 (7:55379906 T>C,G), RS1000452357 (7:55405030 G>A), RS1000460532 (7:55420552 G>A), RS1000512149 (7:55422019 A>G), RS1000517165 (7:55391572 T>A), RS1000552870 (7:55382071 T>C), RS1000578055 (7:55397410 G>A)
Disease associations
OMIM: gene MIM:612919 | 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 |
|---|---|---|
| GCST002927_19 | Mercury levels | 3.000000e-06 |
| GCST004033_17 | QRS interval (sulfonylurea treatment interaction) | 6.000000e-08 |
| GCST007622_2 | Impulsivity | 1.000000e-06 |
| GCST009306_11 | Spatial processing | 6.000000e-06 |
| GCST009391_1434 | Metabolite levels | 8.000000e-06 |
EFO canonical traits (4, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007922 | response to sulfonylurea |
| EFO:0006946 | behavioural disinhibition measurement |
| EFO:0008354 | cognitive function measurement |
| EFO:0010408 | triacylglycerol 50:1 measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL3351212 (SINGLE PROTEIN)
Molecules with ChEMBL bioactivity
1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 341 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).
| Molecule | Name | Phase | Patents |
|---|---|---|---|
| CHEMBL4788758 | OMILANCOR | 2 | 341 |
PharmGKB: 1 entry (VIP=true, CPIC=false)
GtoPdb / IUPHAR curated pharmacology
(IUPHAR/BPS Guide to Pharmacology — expert-curated)
Target class: other protein — Abscisic acid receptor complex
Most potent curated ligand interactions (2 total), top 2:
| Ligand | Action | Affinity | Parameter |
|---|---|---|---|
| abscisic acid | Binding | 7.96 | pKd |
| omilancor | Binding | 5.11 | pKd |
ChEMBL bioactivities
2 potent at pChembl≥5 of 2 total, top 2 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).
| pChembl | Type | Value | Unit | Molecule |
|---|---|---|---|---|
| 8.18 | IC50 | 6.56 | nM | CHEMBL3355910 |
| 5.11 | Kd | 7700 | nM | OMILANCOR |
PubChem BioAssay actives
2 with measured affinity, of 19 total; 2 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.
| Compound | Assay | Type | Value | Unit |
|---|---|---|---|---|
| (2Z,4E)-5-(2-hydroxy-1,3,3-trimethyl-5-oxo-7-oxabicyclo[4.1.0]heptan-2-yl)-3-methylpenta-2,4-dienoic acid | 1176049: Inhibition of ABA binding to LANCL2 (unknown origin) | ic50 | 0.0066 | uM |
| [4-[6-(1H-benzimidazol-2-yl)pyridine-2-carbonyl]piperazin-1-yl]-[6-(1H-benzimidazol-2-yl)-2-pyridinyl]methanone | 1714416: Binding affinity to LANCL2 (unknown origin) by surface plasmon resonance analysis | kd | 7.7000 | uM |
CTD chemical–gene interactions
35 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression | 5 |
| Cisplatin | affects cotreatment, decreases expression, affects expression | 3 |
| bisphenol A | decreases expression, increases expression | 2 |
| trichostatin A | affects expression, decreases expression | 2 |
| Smoke | decreases expression, increases abundance | 2 |
| GSK-J4 | decreases expression | 1 |
| bisphenol F | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | decreases expression | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| entinostat | decreases expression | 1 |
| erucylphospho-N,N,N-trimethylpropylammonium | decreases expression | 1 |
| ICG 001 | increases expression | 1 |
| bisphenol B | increases expression | 1 |
| abrine | increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| pentabrominated diphenyl ether 100 | decreases expression | 1 |
| hexabrominated diphenyl ether 153 | decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| jinfukang | affects cotreatment, decreases expression | 1 |
| bisphenol AF | increases expression | 1 |
| Decitabine | affects expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Enzyme Inhibitors | decreases activity, increases O-linked glycosylation | 1 |
| Ivermectin | decreases expression | 1 |
| Mercury | decreases expression | 1 |
| Methotrexate | decreases expression | 1 |
ChEMBL screening assays
8 unique, capped per target: 8 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL3374271 | Binding | Inhibition of ABA binding to LANCL2 (unknown origin) | Synthesis, structural characterization and effect on human granulocyte intracellular cAMP levels of abscisic acid analogs. — Bioorg Med Chem |
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.