LSAMP
gene geneOn this page
Also known as LAMPIGLON3
Summary
LSAMP (limbic system associated membrane protein, HGNC:6705) is a protein-coding gene on chromosome 3q13.31, encoding Limbic system-associated membrane protein (Q13449). Mediates selective neuronal growth and axon targeting.
This gene encodes a member of the immunoglobulin LAMP, OBCAM and neurotrimin (IgLON) family of proteins. The encoded preproprotein is proteolytically processed to generate a neuronal surface glycoprotein. This protein may act as a selective homophilic adhesion molecule during axon guidance and neuronal growth in the developing limbic system. The encoded protein may also function as a tumor suppressor and may play a role in neuropsychiatric disorders. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed.
Source: NCBI Gene 4045 — RefSeq curated summary.
At a glance
- GWAS associations: 18
- Clinical variants (ClinVar): 44 total
- MANE Select transcript:
NM_002338
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:6705 |
| Approved symbol | LSAMP |
| Name | limbic system associated membrane protein |
| Location | 3q13.31 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | LAMP, IGLON3 |
| Ensembl gene | ENSG00000185565 |
| Ensembl biotype | protein_coding |
| OMIM | 603241 |
| Entrez | 4045 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 3 protein_coding, 3 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000333617, ENST00000473171, ENST00000474851, ENST00000475403, ENST00000490035, ENST00000498645, ENST00000717962
RefSeq mRNA: 2 — MANE Select: NM_002338
NM_001318915, NM_002338
CCDS: CCDS2982
Canonical transcript exons
ENST00000490035 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001296901 | 116086324 | 116086556 |
| ENSE00001882134 | 116444877 | 116445487 |
| ENSE00001905972 | 115802374 | 115810414 |
| ENSE00003511178 | 115841845 | 115841993 |
| ENSE00003519070 | 115842458 | 115842578 |
| ENSE00003635808 | 115852483 | 115852617 |
| ENSE00003789311 | 116019515 | 116019640 |
Expression profiles
Bgee: expression breadth ubiquitous, 216 present calls, max score 98.01.
FANTOM5 (CAGE): breadth broad, TPM avg 8.4301 / max 302.5444, expressed in 655 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 43943 | 5.0493 | 606 |
| 43942 | 2.9492 | 407 |
| 43940 | 0.1258 | 61 |
| 43929 | 0.1186 | 40 |
| 43934 | 0.1015 | 28 |
| 43941 | 0.0469 | 17 |
| 43930 | 0.0387 | 17 |
Top tissues by expression
288 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| postcentral gyrus | UBERON:0002581 | 98.01 | gold quality |
| parietal lobe | UBERON:0001872 | 97.69 | gold quality |
| entorhinal cortex | UBERON:0002728 | 97.61 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.80 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 96.30 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 95.92 | gold quality |
| ventral tegmental area | UBERON:0002691 | 95.90 | gold quality |
| pons | UBERON:0000988 | 95.53 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 95.34 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 95.26 | gold quality |
| primary visual cortex | UBERON:0002436 | 94.86 | gold quality |
| cerebellar vermis | UBERON:0004720 | 94.69 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 94.49 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 94.49 | gold quality |
| temporal lobe | UBERON:0001871 | 94.28 | gold quality |
| medial globus pallidus | UBERON:0002477 | 93.87 | gold quality |
| globus pallidus | UBERON:0001875 | 93.84 | gold quality |
| occipital lobe | UBERON:0002021 | 93.74 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 93.58 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.50 | gold quality |
| corpus callosum | UBERON:0002336 | 93.06 | gold quality |
| nucleus accumbens | UBERON:0001882 | 92.86 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.75 | gold quality |
| amygdala | UBERON:0001876 | 92.62 | gold quality |
| Ammon’s horn | UBERON:0001954 | 92.51 | gold quality |
| telencephalon | UBERON:0001893 | 92.32 | gold quality |
| cerebral cortex | UBERON:0000956 | 91.98 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 91.90 | gold quality |
| cingulate cortex | UBERON:0003027 | 91.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.74 | gold quality |
Single-cell (SCXA)
Detected in 11 experiment(s), a significant marker in 10.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 10396.94 |
| E-HCAD-30 | yes | 9256.58 |
| E-GEOD-180759 | yes | 6655.87 |
| E-ANND-2 | yes | 4929.30 |
| E-GEOD-100618 | yes | 305.17 |
| E-MTAB-7407 | yes | 290.56 |
| E-HCAD-25 | yes | 21.31 |
| E-HCAD-5 | yes | 16.03 |
| E-MTAB-7316 | yes | 14.93 |
| E-ANND-3 | yes | 8.44 |
| E-MTAB-6108 | no | 192.81 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
351 targeting LSAMP, 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-6873-3P | 100.00 | 71.42 | 2626 |
| HSA-MIR-7110-3P | 100.00 | 73.18 | 2486 |
| HSA-MIR-6833-3P | 100.00 | 70.63 | 3197 |
| HSA-MIR-4768-5P | 100.00 | 69.49 | 2861 |
| HSA-MIR-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| HSA-MIR-656-3P | 100.00 | 72.15 | 2788 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-6127 | 100.00 | 66.76 | 2188 |
| HSA-MIR-4510 | 100.00 | 66.60 | 2050 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-6129 | 100.00 | 66.46 | 2080 |
| HSA-MIR-6130 | 100.00 | 66.69 | 2012 |
| HSA-MIR-6133 | 100.00 | 66.48 | 2064 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-3120-5P | 100.00 | 65.56 | 965 |
| HSA-MIR-126-5P | 100.00 | 72.71 | 3180 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-6748-5P | 100.00 | 65.81 | 1057 |
| HSA-MIR-5692B | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692C | 100.00 | 71.32 | 2622 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-4262 | 100.00 | 73.26 | 3931 |
Literature-anchored findings (GeneRIF, showing 12)
- proteomic assessments of membrane microdomains in prefrontal cortex and validation in two brain series, strongly implicates LAMP, STXBP1 and BASP1 in schizophreina and supports the view of a neuritic and synaptic dysfunction in the neuropathology (PMID:18268500)
- Single nucleotide polymorphisms of LSAMP is associated with the pathogenesis of coronary artery disease. (PMID:18318786)
- LSAMP might play a role in pathoaetiology of suicidal behaviour but further studies are needed to understand its exact contribution (PMID:18433483)
- results show that LSAMP is a novel candidate tumor suppressor gene in osteosarcomas (PMID:19441093)
- Identification of chromosomal aberrations associated with disease progression and a novel 3q13.31 deletion involving LSAMP gene in osteosarcoma. (PMID:19724913)
- This study presents the first evidence of a possible role of LSAMP gene in mood and anxiety disorders in humans. (PMID:22892717)
- The results showed significant allelic and haplotypic associations between LSAMP gene and schizophrenia. (PMID:24491686)
- The tumor suppressor function of LSAMP is most likely exerted by reducing the proliferation rate of the tumor cells, possibly by indirectly upregulating one or more of the genes HES1, CTAG2 or KLF10. (PMID:24885297)
- A novel genomic alteration of LSAMP associates with aggressive prostate cancer in African American men (PMID:26844274)
- We detected African-specific SNPs at ZNF649 and LSAMP, with associations of genome-wide significance for ulcerative colitis. (PMID:27693347)
- Limbic System Associated Membrane Protein Mutation in an Iranian Family Diagnosed with Meniere’s Disease. (PMID:32383616)
- Identification of recurrent 3q13.31 chromosomal rearrangement indicates LSAMP as a tumor suppressor gene in neuroblastoma. (PMID:36601748)
Cross-species orthologs
16 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ENSDARG00000103069 | |
| mus_musculus | Lsamp | ENSMUSG00000061080 |
| rattus_norvegicus | Lsamp | ENSRNOG00000031852 |
| drosophila_melanogaster | Ama | FBGN0000071 |
| drosophila_melanogaster | Lac | FBGN0010238 |
| drosophila_melanogaster | klg | FBGN0017590 |
| drosophila_melanogaster | fipi | FBGN0031627 |
| drosophila_melanogaster | DIP-eta | FBGN0031725 |
| drosophila_melanogaster | DIP-iota | FBGN0031837 |
| drosophila_melanogaster | CG13506 | FBGN0034723 |
| drosophila_melanogaster | DIP-zeta | FBGN0051708 |
| drosophila_melanogaster | DIP-kappa | FBGN0051814 |
| drosophila_melanogaster | CG33543 | FBGN0053543 |
| drosophila_melanogaster | DIP-beta | FBGN0259245 |
| drosophila_melanogaster | DIP-epsilon | FBGN0259714 |
| caenorhabditis_elegans | rig-5 | WBGENE00004372 |
Paralogs (5): IGLON5 (ENSG00000142549), NEGR1 (ENSG00000172260), NTM (ENSG00000182667), IGSF5 (ENSG00000183067), OPCML (ENSG00000183715)
Protein
Protein identifiers
Limbic system-associated membrane protein — Q13449 (reviewed: Q13449)
Alternative names: IgLON family member 3
All UniProt accessions (3): Q13449, C9J5G3, H3BLU2
UniProt curated annotations — full annotation on UniProt →
Function. Mediates selective neuronal growth and axon targeting. Contributes to the guidance of developing axons and remodeling of mature circuits in the limbic system. Essential for normal growth of the hippocampal mossy fiber projection.
Subcellular location. Cell membrane.
Tissue specificity. Expressed on limbic neurons and fiber tracts as well as in single layers of the superior colliculus, spinal cord and cerebellum.
Similarity. Belongs to the immunoglobulin superfamily. IgLON family.
RefSeq proteins (2): NP_001305844, NP_002329* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | Domain |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050876 | IgLON_domain | Family |
Pfam: PF07679, PF13927
UniProt features (22 total): glycosylation site 8, disulfide bond 3, domain 3, sequence conflict 2, signal peptide 1, chain 1, sequence variant 1, propeptide 1, modified residue 1, lipid moiety-binding region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q13449-F1 | 83.76 | 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.
Post-translational modifications (2): 94, 315
Disulfide bonds (3): 53–111, 153–197, 239–290
Glycosylation sites (8): 136, 148, 279, 287, 300, 315, 40, 66
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-163125 | Post-translational modification: synthesis of GPI-anchored proteins |
| R-HSA-392499 | Metabolism of proteins |
| R-HSA-597592 | Post-translational protein modification |
MSigDB gene sets: 205 (showing top):
GOBP_HETEROPHILIC_CELL_CELL_ADHESION, GOBP_SYNAPSE_ASSEMBLY, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, CHANDRAN_METASTASIS_DN, GOBP_CELL_CELL_ADHESION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GATA6_01, GATA1_01, GRE_C, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, RICKMAN_HEAD_AND_NECK_CANCER_A, AACTTT_UNKNOWN, GOBP_CELL_JUNCTION_ASSEMBLY
GO Biological Process (2): cell adhesion (GO:0007155), nervous system development (GO:0007399)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): extracellular region (GO:0005576), cytosol (GO:0005829), plasma membrane (GO:0005886), side of membrane (GO:0098552), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Post-translational protein modification | 1 |
| Metabolism of proteins | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 4 |
| membrane | 2 |
| cellular process | 1 |
| system development | 1 |
| binding | 1 |
| cytoplasm | 1 |
| cell periphery | 1 |
| leaflet of membrane bilayer | 1 |
Protein interactions and networks
STRING
1592 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LSAMP | VSTM4 | Q8IW00 | 497 |
| LSAMP | PRNP | P04156 | 463 |
| LSAMP | NTMT2 | Q5VVY1 | 428 |
| LSAMP | CAMKV | Q8NCB2 | 427 |
| LSAMP | LGALS12 | Q96DT0 | 420 |
| LSAMP | SLC1A3 | P43003 | 416 |
| LSAMP | SYP | P08247 | 397 |
| LSAMP | NPAS3 | Q8IXF0 | 393 |
| LSAMP | ZNF649 | Q9BS31 | 392 |
| LSAMP | THY1 | P04216 | 388 |
| LSAMP | CDH9 | Q9ULB4 | 365 |
| LSAMP | DIRC1 | Q969H9 | 357 |
| LSAMP | NTS | P30990 | 353 |
| LSAMP | NRCAM | Q92823 | 345 |
| LSAMP | NTMT1 | Q9BV86 | 343 |
IntAct
69 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| ELK3 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| PCDHGC3 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMARCD1 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| STAM | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSAMP | BECN1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| MED21 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| DELE1 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| ITGB3BP | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CD248 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC61 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSAMP | THAP3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLB1 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSAMP | METTL27 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LSAMP | CENPV | psi-mi:“MI:0915”(physical association) | 0.560 |
| H3-5 | LSAMP | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (17): LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), SPCS3 (Co-fractionation), LSAMP (Affinity Capture-MS), LSAMP (Affinity Capture-MS), LSAMP (Reconstituted Complex), NTM (Reconstituted Complex), LSAMP (Reconstituted Complex)
ESM2 similar proteins: A4IFA6, A6NGN9, B1AUH1, B3N666, B4Q599, O09127, O73791, P00545, P07333, P11834, P13369, P29322, P32736, P35590, P35916, P35917, Q06805, Q06806, Q13308, Q13449, Q14982, Q2EY13, Q2EY14, Q2EY15, Q2VWP9, Q58DA5, Q5IS61, Q5JZY3, Q5R412, Q62718, Q62813, Q6GU68, Q7Z3B1, Q80Z24, Q8BKG3, Q8BLK3, Q8BYG9, Q8HW98, Q8TDY8, Q90773
Diamond homologs: A0A087WV53, A1KZ92, A2AJ76, A4IFW2, A4IGL7, A6NDA9, B0BNK7, B0V2N1, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NWE3, G5EG78, O15146, O73775, O75325, O94898, P07722, P15364, P20916, P20917, P23468, P43146, P48960, P53813, P70193, P70211, Q03142, Q08761, Q08879, Q13332, Q13449, Q1ENI8, Q1RMS4, Q1WIM1, Q21038, Q24372, Q26474, Q2Q421
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
44 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 40 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
4608 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 3:115841837:ATAC:A | donor_loss | 1.0000 |
| 3:115841838:TACT:T | donor_loss | 1.0000 |
| 3:115841839:ACTT:A | donor_loss | 1.0000 |
| 3:115841840:CTTA:C | donor_gain | 1.0000 |
| 3:115841841:TTAC:T | donor_loss | 1.0000 |
| 3:115841842:TACTG:T | donor_loss | 1.0000 |
| 3:115841843:A:AC | donor_gain | 1.0000 |
| 3:115841844:C:CG | donor_gain | 1.0000 |
| 3:115841844:CT:C | donor_gain | 1.0000 |
| 3:115841844:CTG:C | donor_gain | 1.0000 |
| 3:115841844:CTGA:C | donor_gain | 1.0000 |
| 3:115841844:CTGAA:C | donor_gain | 1.0000 |
| 3:115841989:TTATC:T | acceptor_gain | 1.0000 |
| 3:115841990:TATC:T | acceptor_gain | 1.0000 |
| 3:115841992:TC:T | acceptor_gain | 1.0000 |
| 3:115841992:TCC:T | acceptor_loss | 1.0000 |
| 3:115841993:CC:C | acceptor_gain | 1.0000 |
| 3:115841993:CCT:C | acceptor_loss | 1.0000 |
| 3:115841994:C:CC | acceptor_gain | 1.0000 |
| 3:115842000:G:GC | acceptor_gain | 1.0000 |
| 3:115842003:C:CT | acceptor_gain | 1.0000 |
| 3:115842004:A:T | acceptor_gain | 1.0000 |
| 3:115842453:CATA:C | donor_loss | 1.0000 |
| 3:115842454:ATAC:A | donor_loss | 1.0000 |
| 3:115842456:A:AC | donor_gain | 1.0000 |
| 3:115842456:A:AT | donor_loss | 1.0000 |
| 3:115842457:C:CC | donor_gain | 1.0000 |
| 3:115842457:C:CG | donor_loss | 1.0000 |
| 3:115842575:GGAT:G | acceptor_gain | 1.0000 |
| 3:115842576:GATC:G | acceptor_loss | 1.0000 |
AlphaMissense
2172 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 3:115842475:C:A | W251C | 1.000 |
| 3:115842475:C:G | W251C | 1.000 |
| 3:115842477:A:G | W251R | 1.000 |
| 3:115842477:A:T | W251R | 1.000 |
| 3:116019534:C:A | W165C | 1.000 |
| 3:116019534:C:G | W165C | 1.000 |
| 3:115841882:G:C | N294K | 0.999 |
| 3:115841882:G:T | N294K | 0.999 |
| 3:115841940:A:G | L275P | 0.999 |
| 3:115852542:C:G | C197S | 0.999 |
| 3:115852543:A:T | C197S | 0.999 |
| 3:115852548:T:C | Y195C | 0.999 |
| 3:115852549:A:C | Y195D | 0.999 |
| 3:116019535:C:G | W165S | 0.999 |
| 3:116019536:A:G | W165R | 0.999 |
| 3:116019536:A:T | W165R | 0.999 |
| 3:116019570:G:C | C153W | 0.999 |
| 3:116019572:A:G | C153R | 0.999 |
| 3:116019577:A:G | L151P | 0.999 |
| 3:116086335:A:G | L126S | 0.999 |
| 3:116086380:C:G | C111S | 0.999 |
| 3:116086381:A:G | C111R | 0.999 |
| 3:116086381:A:T | C111S | 0.999 |
| 3:116086387:A:C | Y109D | 0.999 |
| 3:116086398:T:A | D105V | 0.999 |
| 3:116086425:A:G | L96P | 0.999 |
| 3:116086520:C:A | W64C | 0.999 |
| 3:116086520:C:G | W64C | 0.999 |
| 3:116086522:A:G | W64R | 0.999 |
| 3:116086522:A:T | W64R | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000008790 (3:115941653 T>C), RS1000010352 (3:116359527 T>C), RS1000017130 (3:116118246 T>C), RS1000020803 (3:115825371 G>C), RS1000023525 (3:116202454 C>A,T), RS1000025165 (3:116250575 A>G,T), RS1000027105 (3:115964759 G>A), RS1000033792 (3:116118513 T>C), RS1000035760 (3:115844158 T>C,G), RS1000036336 (3:116420653 T>C), RS1000046897 (3:115856445 C>G), RS1000047041 (3:116219013 C>T), RS1000048257 (3:116227385 C>T), RS1000052679 (3:115897979 C>A,T), RS1000055674 (3:116290998 T>G)
Disease associations
OMIM: gene MIM:603241 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
18 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002682_5 | Tourette’s syndrome or obsessive-compulsive disorder | 2.000000e-06 |
| GCST002945_7 | Emphysema imaging phenotypes | 9.000000e-07 |
| GCST003208_13 | Colorectal or endometrial cancer | 4.000000e-07 |
| GCST004865_71 | Itch intensity from mosquito bite adjusted by bite size | 9.000000e-07 |
| GCST006585_50 | Blood protein levels | 1.000000e-12 |
| GCST006943_35 | Feeling miserable | 6.000000e-09 |
| GCST006944_36 | Experiencing mood swings | 2.000000e-08 |
| GCST007576_329 | Chronotype | 2.000000e-10 |
| GCST007576_383 | Chronotype | 2.000000e-10 |
| GCST007709_15 | General factor of neuroticism | 3.000000e-08 |
| GCST008162_49 | Hip circumference | 6.000000e-06 |
| GCST008887_1 | Systemising | 3.000000e-08 |
| GCST010142_33 | Fish- and plant-related diet | 7.000000e-09 |
| GCST010396_287 | Gut microbiota (bacterial taxa, hurdle binary method) | 3.000000e-08 |
| GCST012048_8 | Triglyceride levels | 1.000000e-06 |
| GCST012326_4 | BMI x SSRI defined daily dose interaction in schizophrenia or bipolar disorder | 2.000000e-07 |
| GCST012488_37 | L1-L4 bone mineral density x serum urate levels interaction | 9.000000e-07 |
| GCST90000047_56 | Age at first sexual intercourse | 5.000000e-08 |
EFO canonical traits (17, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007626 | emphysema imaging measurement |
| EFO:0004230 | endometrial neoplasm |
| EFO:0008377 | mosquito bite reaction itch intensity measurement |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009598 | feeling miserable measurement |
| EFO:0008475 | mood instability measurement |
| EFO:0008328 | chronotype measurement |
| EFO:0007660 | neuroticism measurement |
| EFO:0010221 | systemising measurement |
| EFO:0008111 | diet measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0004530 | triglyceride measurement |
| EFO:0004340 | body mass index |
| EFO:0005658 | response to selective serotonin reuptake inhibitor |
| EFO:0004531 | urate measurement |
| EFO:0007701 | spine bone mineral density |
| EFO:0009749 | age at first sexual intercourse measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
40 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression | 4 |
| mercuric bromide | affects cotreatment, decreases expression | 2 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Benzo(a)pyrene | affects methylation, decreases methylation, increases methylation | 2 |
| Nickel | decreases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Tretinoin | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, decreases methylation | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | increases expression | 1 |
| sodium arsenite | affects methylation | 1 |
| butyraldehyde | decreases expression | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | affects methylation | 1 |
| CGP 52608 | affects binding, increases reaction | 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 | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases methylation | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Dasatinib | increases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, decreases methylation | 1 |
| Arsenic | affects methylation | 1 |
| Daunorubicin | affects response to substance | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Formaldehyde | decreases 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.