LINGO2
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Also known as LERN3
Summary
LINGO2 (leucine rich repeat and Ig domain containing 2, HGNC:21207) is a protein-coding gene on chromosome 9p21.2-p21.1, encoding Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 (Q7L985).
Predicted to act upstream of or within positive regulation of synapse assembly. Predicted to be located in membrane. Predicted to be active in several cellular components, including extracellular space; glutamatergic synapse; and synaptic membrane.
Source: NCBI Gene 158038 — RefSeq curated summary.
At a glance
- GWAS associations: 71
- Clinical variants (ClinVar): 143 total
- MANE Select transcript:
NM_001258282
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:21207 |
| Approved symbol | LINGO2 |
| Name | leucine rich repeat and Ig domain containing 2 |
| Location | 9p21.2-p21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LERN3 |
| Ensembl gene | ENSG00000174482 |
| Ensembl biotype | protein_coding |
| OMIM | 609793 |
| Entrez | 158038 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 7 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000379992, ENST00000493941, ENST00000698399, ENST00000698400, ENST00000698401, ENST00000698402, ENST00000698403, ENST00000698404, ENST00000698405
RefSeq mRNA: 4 — MANE Select: NM_001258282
NM_001258282, NM_001354574, NM_001354575, NM_152570
CCDS: CCDS6524
Canonical transcript exons
ENST00000698399 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001406659 | 28475940 | 28476025 |
| ENSE00001408858 | 28670200 | 28670280 |
| ENSE00001483298 | 27937617 | 27950706 |
| ENSE00001483303 | 28295208 | 28295366 |
| ENSE00001483304 | 28372836 | 28372868 |
| ENSE00003973552 | 29212922 | 29213601 |
| ENSE00003973554 | 28947818 | 28947914 |
Expression profiles
Bgee: expression breadth ubiquitous, 157 present calls, max score 97.87.
FANTOM5 (CAGE): breadth broad, TPM avg 1.9371 / max 129.1825, expressed in 484 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 100367 | 0.7027 | 219 |
| 100365 | 0.4301 | 210 |
| 100369 | 0.4098 | 172 |
| 100366 | 0.2891 | 151 |
| 100364 | 0.0665 | 34 |
| 100368 | 0.0389 | 13 |
Top tissues by expression
237 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.87 | gold quality |
| oocyte | CL:0000023 | 94.71 | gold quality |
| endothelial cell | CL:0000115 | 93.52 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 87.36 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 85.48 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 82.01 | gold quality |
| kidney epithelium | UBERON:0004819 | 81.39 | gold quality |
| buccal mucosa cell | CL:0002336 | 81.15 | silver quality |
| primary visual cortex | UBERON:0002436 | 79.52 | gold quality |
| cortical plate | UBERON:0005343 | 78.60 | gold quality |
| cauda epididymis | UBERON:0004360 | 78.25 | gold quality |
| myometrium | UBERON:0001296 | 76.20 | gold quality |
| body of uterus | UBERON:0009853 | 76.13 | gold quality |
| sperm | CL:0000019 | 75.88 | silver quality |
| occipital lobe | UBERON:0002021 | 75.49 | gold quality |
| cardiac muscle of right atrium | UBERON:0003379 | 74.92 | gold quality |
| left ventricle myocardium | UBERON:0006566 | 74.66 | gold quality |
| entorhinal cortex | UBERON:0002728 | 74.26 | gold quality |
| islet of Langerhans | UBERON:0000006 | 74.19 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 73.77 | gold quality |
| myocardium | UBERON:0002349 | 73.58 | gold quality |
| cerebellar vermis | UBERON:0004720 | 73.11 | silver quality |
| prefrontal cortex | UBERON:0000451 | 72.05 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 71.60 | gold quality |
| smooth muscle tissue | UBERON:0001135 | 71.25 | gold quality |
| frontal cortex | UBERON:0001870 | 70.11 | gold quality |
| tibialis anterior | UBERON:0001385 | 69.66 | silver quality |
| neocortex | UBERON:0001950 | 69.27 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 68.70 | gold quality |
| cerebral cortex | UBERON:0000956 | 67.91 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-180759 | yes | 4135.93 |
| E-HCAD-35 | yes | 3099.83 |
| E-HCAD-25 | yes | 91.27 |
| E-ANND-3 | yes | 4.38 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
88 targeting LINGO2, 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-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-507 | 99.97 | 70.11 | 1915 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-450B-5P | 99.92 | 71.48 | 3175 |
| HSA-MIR-7-1-3P | 99.91 | 71.53 | 4384 |
| HSA-MIR-7-2-3P | 99.91 | 71.40 | 4394 |
| HSA-MIR-6499-3P | 99.90 | 66.38 | 1212 |
| HSA-MIR-548E-5P | 99.89 | 72.73 | 4486 |
| HSA-MIR-380-3P | 99.89 | 70.18 | 1978 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-3140-3P | 99.88 | 68.47 | 2069 |
| HSA-MIR-137-3P | 99.87 | 74.74 | 2401 |
| HSA-MIR-130B-5P | 99.83 | 68.50 | 1888 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4495 | 99.82 | 72.08 | 3080 |
| HSA-MIR-4645-3P | 99.76 | 69.33 | 993 |
| HSA-MIR-3156-3P | 99.76 | 66.72 | 939 |
| HSA-MIR-3680-3P | 99.75 | 72.51 | 3095 |
| HSA-MIR-4524A-3P | 99.72 | 66.85 | 2406 |
| HSA-MIR-4677-5P | 99.70 | 70.09 | 1940 |
| HSA-MIR-379-3P | 99.69 | 69.60 | 1524 |
| HSA-MIR-411-3P | 99.69 | 69.63 | 1524 |
| HSA-MIR-567 | 99.63 | 68.57 | 1219 |
| HSA-MIR-802 | 99.61 | 67.70 | 1254 |
| HSA-MIR-6832-5P | 99.58 | 64.82 | 1132 |
| HSA-MIR-6758-3P | 99.57 | 67.55 | 1078 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-4708-3P | 99.51 | 67.99 | 870 |
Literature-anchored findings (GeneRIF, showing 7)
- LINGO1 and LINGO2 variants are associated with essential tremor and Parkinson disease (PMID:20369371)
- demonstrated for the first time that rs7033345 is associated with PD and ET and rs10812774 with ET among Asians, suggesting that LINGO2 might act as a susceptibility gene for essential tremor and Parkinson’s disease (PMID:21287203)
- The results of this study concluded that the LINGO-2 variant rs109668280 does not contribute to the risk of developing parkinson disreas in Taiwan. (PMID:22123311)
- Data indicate that rs10968576, an intronic single nucleotide polymorphism (SNP) within the leucine rich repeat and Ig domain containing 2 LINGO2 (LERN3, LRRN6C) gene was associated with body mass in elderly Swedes at age 70. (PMID:25711307)
- LINGO2 rs824248 may serve as a susceptibility marker for gestational diabetes mellitus in Chinese females. (PMID:30426492)
- These indicate the involvement of LINGO2 in gastric cancer initiation and progression by altering cell motility, stemness, and tumorigenicity. (PMID:30696080)
- Variations in the LINGO2 and GLIS3 Genes and Gene-Environment Interactions Increase Gestational Diabetes Mellitus Risk in Chinese Women. (PMID:38888423)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lingo2b | ENSDARG00000069970 |
| danio_rerio | lingo2a | ENSDARG00000074535 |
| mus_musculus | Lingo2 | ENSMUSG00000045083 |
| rattus_norvegicus | Lingo2 | ENSRNOG00000005634 |
Paralogs (25): SLITRK3 (ENSG00000121871), LRFN3 (ENSG00000126243), LRFN1 (ENSG00000128011), SLIT2 (ENSG00000145147), LRFN2 (ENSG00000156564), LRRC38 (ENSG00000162494), SLITRK5 (ENSG00000165300), LRFN5 (ENSG00000165379), LRTM2 (ENSG00000166159), LINGO1 (ENSG00000169783), LRRN2 (ENSG00000170382), LRRN3 (ENSG00000173114), LRFN4 (ENSG00000173621), LRRN1 (ENSG00000175928), SLITRK1 (ENSG00000178235), GP5 (ENSG00000178732), SLITRK4 (ENSG00000179542), LRRC55 (ENSG00000183908), SLIT3 (ENSG00000184347), SLITRK6 (ENSG00000184564), SLITRK2 (ENSG00000185985), LRRC70 (ENSG00000186105), SLIT1 (ENSG00000187122), TLR9 (ENSG00000239732), TPBGL (ENSG00000261594)
Protein
Protein identifiers
Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 2 — Q7L985 (reviewed: Q7L985)
Alternative names: Leucine-rich repeat neuronal protein 3, Leucine-rich repeat neuronal protein 6C
All UniProt accessions (2): Q7L985, A0A8V8TNG1
UniProt curated annotations — full annotation on UniProt →
Subcellular location. Membrane.
RefSeq proteins (4): NP_001245211, NP_001341503, NP_001341504, NP_689783 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050541 | LRR_TM_domain-containing | Family |
Pfam: PF00560, PF07679, PF13855
UniProt features (28 total): repeat 12, glycosylation site 5, domain 3, topological domain 2, signal peptide 1, chain 1, disulfide bond 1, sequence variant 1, sequence conflict 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7L985-F1 | 85.02 | 0.70 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Disulfide bonds (1): 432–483
Glycosylation sites (5): 38, 130, 188, 279, 327
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 70 (showing top):
GOBP_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_CELL_JUNCTION_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_DEVELOPMENTAL_PROCESS, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, GOBP_POSITIVE_REGULATION_OF_MULTICELLULAR_ORGANISMAL_PROCESS
GO Biological Process (1): positive regulation of synapse assembly (GO:0051965)
GO Molecular Function (2): signaling receptor activity (GO:0038023), protein binding (GO:0005515)
GO Cellular Component (4): plasma membrane (GO:0005886), synaptic membrane (GO:0097060), glutamatergic synapse (GO:0098978), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 2 |
| synapse assembly | 1 |
| positive regulation of nervous system development | 1 |
| regulation of synapse assembly | 1 |
| positive regulation of cell junction assembly | 1 |
| molecular transducer activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| plasma membrane region | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1434 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LINGO2 | TFF3 | Q07654 | 741 |
| LINGO2 | RTN4R | Q9BZR6 | 684 |
| LINGO2 | MOB3B | Q86TA1 | 607 |
| LINGO2 | TBPL1 | P62380 | 598 |
| LINGO2 | MTIF3 | Q9H2K0 | 584 |
| LINGO2 | POC5 | Q8NA72 | 580 |
| LINGO2 | SEC16B | Q96JE7 | 571 |
| LINGO2 | TMEM160 | Q9NX00 | 570 |
| LINGO2 | V9GXZ4 | V9GXZ4 | 544 |
| LINGO2 | TNNI3K | Q59H18 | 530 |
| LINGO2 | ZNF608 | Q9ULD9 | 517 |
| LINGO2 | DNAJC27 | Q9NZQ0 | 515 |
| LINGO2 | GNPDA2 | Q8TDQ7 | 513 |
| LINGO2 | QPCTL | Q9NXS2 | 507 |
| LINGO2 | NEGR1 | Q7Z3B1 | 507 |
| LINGO2 | NUDT3 | O95989 | 507 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LINGO1 | LINGO2 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LINGO2 | GAPDHS | psi-mi:“MI:0914”(association) | 0.530 |
| SEMG2 | VSIG8 | psi-mi:“MI:0914”(association) | 0.530 |
| LINGO2 | LGALS1 | psi-mi:“MI:0914”(association) | 0.530 |
| LINGO1 | PON2 | psi-mi:“MI:0914”(association) | 0.350 |
| LINGO2 | H1-1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (30): LINGO2 (Affinity Capture-MS), SMURF2 (Affinity Capture-MS), LGALS1 (Affinity Capture-MS), SLC34A2 (Affinity Capture-MS), GAPDHS (Affinity Capture-MS), PTPRD (Affinity Capture-MS), STK11IP (Affinity Capture-MS), LMAN2L (Affinity Capture-MS), TRIM11 (Affinity Capture-MS), CNPY3 (Affinity Capture-MS), CARKD (Affinity Capture-MS), LINGO2 (Affinity Capture-MS), SMURF2 (Affinity Capture-MS), STK11IP (Affinity Capture-MS), CARKD (Affinity Capture-MS)
ESM2 similar proteins: A0N0X6, A4IIW9, B0BLW3, B1H134, B1H234, B4F7C5, D3ZAL8, D3ZTV3, D4A7P2, E5DHB5, F1NUK7, F7D3V9, O43155, O43300, O94898, P58681, Q32Q07, Q3SXY7, Q3URE9, Q504C1, Q50L44, Q52KR2, Q5R482, Q5R6T0, Q5RDJ4, Q61809, Q66HV9, Q6RKD8, Q6UXK5, Q70AK3, Q7L985, Q80XG9, Q80ZD7, Q80ZD8, Q80ZD9, Q86VH4, Q86VH5, Q8BGA3, Q8BGT1, Q8BLU0
Diamond homologs: A0N0X6, A2AJ76, A2CG49, A4IGL7, A4IIW9, B3NS99, B4GBH0, B4HNW4, B4KPU0, B4MR28, B4P5Q9, B4QC63, G5EBF1, O75325, O95428, P0C6S8, P11627, P12960, P22063, P28685, P32004, P97924, Q02246, Q07409, Q09024, Q12860, Q290N5, Q32Q07, Q3UQ28, Q3URE9, Q3V1M1, Q5R482, Q61330, Q61809, Q62682, Q62845, Q63198, Q66HV9, Q69Z26, Q6AWJ9
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
143 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 119 |
| Likely benign | 12 |
| Benign | 4 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5332 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 9:27972142:G:C | donor_gain | 1.0000 |
| 9:28015043:A:AC | donor_gain | 1.0000 |
| 9:28058275:C:CT | acceptor_gain | 1.0000 |
| 9:28295202:CCTTA:C | donor_loss | 1.0000 |
| 9:28295203:CTTAC:C | donor_loss | 1.0000 |
| 9:28295205:TAC:T | donor_loss | 1.0000 |
| 9:28295207:C:A | donor_loss | 1.0000 |
| 9:28475936:TTACC:T | donor_loss | 1.0000 |
| 9:28475938:A:AC | donor_gain | 1.0000 |
| 9:28475938:ACCA:A | donor_loss | 1.0000 |
| 9:28475939:C:A | donor_loss | 1.0000 |
| 9:28475939:C:CC | donor_gain | 1.0000 |
| 9:27951675:G:C | donor_gain | 0.9900 |
| 9:27972141:A:AC | donor_gain | 0.9900 |
| 9:28014340:A:AC | donor_gain | 0.9900 |
| 9:28058271:A:AC | acceptor_gain | 0.9900 |
| 9:28058275:C:T | acceptor_gain | 0.9900 |
| 9:28058276:A:T | acceptor_gain | 0.9900 |
| 9:28067483:T:C | donor_gain | 0.9900 |
| 9:28080857:T:A | donor_gain | 0.9900 |
| 9:28260991:CCG:C | acceptor_gain | 0.9900 |
| 9:28260992:C:T | acceptor_gain | 0.9900 |
| 9:28260993:G:C | acceptor_gain | 0.9900 |
| 9:28295362:CGAAC:C | acceptor_gain | 0.9900 |
| 9:28295363:GAACC:G | acceptor_loss | 0.9900 |
| 9:28295364:AACC:A | acceptor_loss | 0.9900 |
| 9:28295365:ACCT:A | acceptor_loss | 0.9900 |
| 9:28295366:CCT:C | acceptor_loss | 0.9900 |
| 9:28295368:T:A | acceptor_loss | 0.9900 |
| 9:28372834:ACC:A | donor_loss | 0.9900 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000000013 (9:28142146 A>T), RS1000000098 (9:28005993 T>C), RS1000002009 (9:27974029 T>C), RS1000003690 (9:28655388 C>T), RS1000004046 (9:28476743 C>G), RS1000008366 (9:28180237 C>A), RS1000008894 (9:28907322 T>C), RS1000009493 (9:28709654 T>G), RS1000010919 (9:29094896 C>A,T), RS1000015851 (9:28134680 G>C), RS1000015869 (9:28290299 C>A), RS1000016721 (9:28216549 A>G), RS1000018547 (9:29214075 C>T), RS1000021288 (9:28806739 T>C), RS1000022047 (9:28037875 A>G)
Disease associations
OMIM: gene MIM:609793 | disease phenotypes:
GenCC curated gene-disease
Mondo (2): primary ovarian failure (MONDO:0005387), megacolon (MONDO:0001273)
Orphanet (1): NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
71 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000763_10 | Immunoglobulin A | 9.000000e-06 |
| GCST000830_9 | Body mass index | 3.000000e-13 |
| GCST001762_297 | Obesity-related traits | 4.000000e-06 |
| GCST001762_390 | Obesity-related traits | 7.000000e-06 |
| GCST001762_522 | Obesity-related traits | 6.000000e-06 |
| GCST001762_824 | Obesity-related traits | 2.000000e-06 |
| GCST001953_16 | Obesity | 3.000000e-08 |
| GCST001953_7 | Obesity | 2.000000e-10 |
| GCST002218_3 | Endometrial cancer | 9.000000e-06 |
| GCST002317_2 | Type 2 diabetes | 8.000000e-06 |
| GCST002759_9 | Motion sickness | 6.000000e-15 |
| GCST002783_4 | Body mass index | 1.000000e-11 |
| GCST002783_407 | Body mass index | 2.000000e-14 |
| GCST002783_533 | Body mass index | 7.000000e-14 |
| GCST002783_83 | Body mass index | 5.000000e-06 |
| GCST002885_3 | Pharmacokinetics of olanzapine in severe mental disorder (concentration dose ratio) | 2.000000e-07 |
| GCST003050_18 | Schizophrenia | 1.000000e-06 |
| GCST003124_3 | Mild influenza (H1N1) infection | 9.000000e-13 |
| GCST003125_3 | Influenza A (H1N1) infection | 2.000000e-10 |
| GCST003855_3 | Gut microbiota (bacterial taxa) | 2.000000e-09 |
| GCST003855_4 | Gut microbiota (bacterial taxa) | 3.000000e-08 |
| GCST003986_18 | Migraine | 2.000000e-08 |
| GCST004065_1 | Waist circumference | 1.000000e-11 |
| GCST004065_57 | Waist circumference | 1.000000e-08 |
| GCST004495_119 | BMI (adjusted for smoking behaviour) | 9.000000e-10 |
| GCST004495_120 | BMI (adjusted for smoking behaviour) | 3.000000e-13 |
| GCST004495_121 | BMI (adjusted for smoking behaviour) | 7.000000e-06 |
| GCST004497_2 | Body mass index (joint analysis main effects and smoking interaction) | 1.000000e-11 |
| GCST004497_3 | Body mass index (joint analysis main effects and smoking interaction) | 2.000000e-08 |
| GCST004499_50 | BMI in non-smokers | 6.000000e-07 |
EFO canonical traits (21, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004747 | protein measurement |
| EFO:0004340 | body mass index |
| EFO:0003939 | energy intake |
| EFO:0004612 | high density lipoprotein cholesterol measurement |
| EFO:0004627 | IGF-1 measurement |
| EFO:0004230 | endometrial neoplasm |
| EFO:0006928 | motion sickness |
| EFO:0007635 | concentration dose ratio |
| EFO:1001488 | influenza A (H1N1) |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004318 | smoking behavior |
| EFO:0008002 | physical activity measurement |
| EFO:0007835 | alcohol dependence measurement |
| EFO:0007681 | triglyceride change measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0009369 | diffusing capacity of the lung for carbon monoxide |
| EFO:0006781 | coffee consumption measurement |
| EFO:0004886 | intracranial volume measurement |
| EFO:0008354 | cognitive function measurement |
| EFO:0004614 | apolipoprotein A 1 measurement |
| EFO:0009819 | comparative body size at age 10, self-reported |
MeSH disease descriptors (2)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D008531 | Megacolon | C06.405.469.158.701 |
| D016649 | Primary Ovarian Insufficiency | C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
27 total (human), top 27 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, affects expression, decreases methylation | 8 |
| Aflatoxin B1 | decreases expression, decreases methylation, increases methylation, affects methylation | 4 |
| Panobinostat | affects cotreatment, increases expression | 2 |
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| Silicon Dioxide | decreases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| GSK-J4 | increases expression | 1 |
| methyleugenol | decreases expression | 1 |
| pirinixic acid | affects binding, decreases expression, increases activity | 1 |
| bisphenol A | increases methylation | 1 |
| trichostatin A | increases expression | 1 |
| sodium arsenite | affects splicing, decreases expression | 1 |
| benzo(e)pyrene | decreases methylation | 1 |
| aflatoxin B2 | decreases methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 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 |
| Temozolomide | increases expression | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Atrazine | decreases expression | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Methamphetamine | affects response to substance | 1 |
| Methapyrilene | decreases methylation | 1 |
| Phthalic Acids | increases methylation | 1 |
| Tretinoin | decreases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
Clinical trials (associated diseases)
77 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT00417066 | PHASE4 | COMPLETED | Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders |
| NCT00732693 | PHASE4 | COMPLETED | Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure |
| NCT00837616 | PHASE4 | COMPLETED | Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism |
| NCT01853501 | PHASE4 | UNKNOWN | Effects of ADSC Therapy in Women With POF |
| NCT02783937 | PHASE4 | COMPLETED | Filgrastim for Premature Ovarian Insufficiency |
| NCT03535480 | PHASE4 | UNKNOWN | Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure |
| NCT00140998 | PHASE3 | COMPLETED | Estrogen Treatment (Oral vs. Patches) in Turner Syndrome |
| NCT00001951 | PHASE2 | COMPLETED | Hormone Replacement in Young Women With Premature Ovarian Failure |
| NCT00370019 | PHASE2 | WITHDRAWN | Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure |
| NCT00429494 | PHASE2 | COMPLETED | GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients |
| NCT03816852 | PHASE2 | SUSPENDED | The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency |
| NCT04536467 | PHASE2 | UNKNOWN | Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients |
| NCT06117982 | PHASE2 | COMPLETED | The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency |
| NCT02912104 | PHASE1 | COMPLETED | A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure |
| NCT03178695 | PHASE1 | COMPLETED | Inovium Ovarian Rejuvenation Trials |
| NCT04815213 | PHASE1 | ACTIVE_NOT_RECRUITING | The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans |
| NCT05138367 | PHASE1 | COMPLETED | Effects of UCA-PSCs in Women With POF |
| NCT06132542 | PHASE1 | UNKNOWN | Autologous ADMSC Transplantation in Patients With POI |
| NCT00948857 | PHASE2/PHASE3 | TERMINATED | Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF) |
| NCT04031456 | PHASE2/PHASE3 | RECRUITING | Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients |
| NCT02043743 | PHASE1/PHASE2 | UNKNOWN | Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure |
| NCT02062931 | PHASE1/PHASE2 | UNKNOWN | Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure |
| NCT02151890 | PHASE1/PHASE2 | COMPLETED | Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure |
| NCT02372474 | PHASE1/PHASE2 | COMPLETED | It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure |
| NCT02603744 | PHASE1/PHASE2 | UNKNOWN | Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF) |
| NCT02644447 | PHASE1/PHASE2 | COMPLETED | Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF |
| NCT03069209 | PHASE1/PHASE2 | UNKNOWN | Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF) |
| NCT03985462 | PHASE1/PHASE2 | WITHDRAWN | Very Small Embryonic-like Stem Cells for Ovary |
| NCT04009473 | PHASE1/PHASE2 | UNKNOWN | Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation |
| NCT04071574 | PHASE1/PHASE2 | COMPLETED | Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility |
| NCT04922398 | PHASE1/PHASE2 | UNKNOWN | Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency |
| NCT05462379 | PHASE1/PHASE2 | ACTIVE_NOT_RECRUITING | Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment. |
| NCT06202547 | PHASE1/PHASE2 | UNKNOWN | Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure |
| NCT01129947 | EARLY_PHASE1 | WITHDRAWN | The Use of DHEA in Women With Premature Ovarian Failure |
| NCT05522634 | EARLY_PHASE1 | UNKNOWN | A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency |
| NCT07308327 | EARLY_PHASE1 | ACTIVE_NOT_RECRUITING | The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial |
| NCT00001275 | Not specified | COMPLETED | Ovarian Follicle Function in Patients With Primary Ovarian Failure |
| NCT00001306 | Not specified | COMPLETED | Steroid Therapy in Autoimmune Premature Ovarian Failure |
| NCT00006156 | Not specified | COMPLETED | Feasibility Study for Development of an Early Test for Ovarian Failure |
| NCT00119925 | Not specified | UNKNOWN | ‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): brain aneurysm, megacolon, migraine disorder