LRRTM4
geneOn this page
Also known as FLJ12568
Summary
LRRTM4 (leucine rich repeat transmembrane neuronal 4, HGNC:19411) is a protein-coding gene on chromosome 2p12, encoding Leucine-rich repeat transmembrane neuronal protein 4 (Q86VH4). May play a role in the development and maintenance of the vertebrate nervous system.
Predicted to enable heparan sulfate proteoglycan binding activity. Predicted to be involved in regulation of synapse assembly. Predicted to act upstream of or within AMPA glutamate receptor clustering; positive regulation of synapse assembly; and regulation of presynaptic membrane organization. Predicted to be located in postsynaptic membrane. Predicted to be part of AMPA glutamate receptor complex. Predicted to be active in several cellular components, including GABA-ergic synapse; photoreceptor ribbon synapse; and postsynaptic density membrane.
Source: NCBI Gene 80059 — RefSeq curated summary.
At a glance
- GWAS associations: 28
- Clinical variants (ClinVar): 83 total
- MANE Select transcript:
NM_001134745
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:19411 |
| Approved symbol | LRRTM4 |
| Name | leucine rich repeat transmembrane neuronal 4 |
| Location | 2p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FLJ12568 |
| Ensembl gene | ENSG00000176204 |
| Ensembl biotype | protein_coding |
| OMIM | 610870 |
| Entrez | 80059 |
Gene structure
Transcript identifiers
Ensembl transcripts: 7 — 6 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000409088, ENST00000409093, ENST00000409282, ENST00000409884, ENST00000409911, ENST00000456154, ENST00000491242
RefSeq mRNA: 5 — MANE Select: NM_001134745
NM_001134745, NM_001282924, NM_001282928, NM_001330370, NM_024993
CCDS: CCDS46346, CCDS46347, CCDS74530, CCDS82475
Canonical transcript exons
ENST00000409884 — 4 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001585504 | 77521668 | 77521818 |
| ENSE00001588312 | 76747685 | 76748916 |
| ENSE00001588336 | 77522109 | 77522376 |
| ENSE00001589606 | 77518318 | 77519864 |
Expression profiles
Bgee: expression breadth ubiquitous, 144 present calls, max score 97.42.
FANTOM5 (CAGE): breadth broad, TPM avg 3.4776 / max 401.9012, expressed in 295 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 29301 | 1.3577 | 166 |
| 29300 | 0.7558 | 156 |
| 29298 | 0.4692 | 142 |
| 29299 | 0.3989 | 121 |
| 29296 | 0.2985 | 104 |
| 29302 | 0.1442 | 69 |
| 29297 | 0.0270 | 9 |
| 29292 | 0.0204 | 7 |
| 29293 | 0.0040 | 2 |
| 29294 | 0.0019 | 1 |
Top tissues by expression
266 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| secondary oocyte | CL:0000655 | 97.42 | gold quality |
| oocyte | CL:0000023 | 90.12 | gold quality |
| cortical plate | UBERON:0005343 | 88.90 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 83.58 | gold quality |
| prefrontal cortex | UBERON:0000451 | 81.28 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 79.19 | gold quality |
| ganglionic eminence | UBERON:0004023 | 78.31 | gold quality |
| frontal cortex | UBERON:0001870 | 77.86 | gold quality |
| neocortex | UBERON:0001950 | 77.54 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 76.38 | gold quality |
| ventricular zone | UBERON:0003053 | 76.24 | gold quality |
| right frontal lobe | UBERON:0002810 | 75.71 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 75.68 | gold quality |
| primary visual cortex | UBERON:0002436 | 75.59 | gold quality |
| cingulate cortex | UBERON:0003027 | 75.58 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 75.33 | silver quality |
| cerebral cortex | UBERON:0000956 | 75.26 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 74.77 | gold quality |
| occipital lobe | UBERON:0002021 | 73.34 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 73.26 | gold quality |
| telencephalon | UBERON:0001893 | 72.57 | gold quality |
| buccal mucosa cell | CL:0002336 | 72.50 | silver quality |
| postcentral gyrus | UBERON:0002581 | 71.47 | gold quality |
| forebrain | UBERON:0001890 | 70.45 | gold quality |
| parietal lobe | UBERON:0001872 | 70.41 | silver quality |
| nucleus accumbens | UBERON:0001882 | 69.49 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 69.31 | silver quality |
| caudate nucleus | UBERON:0001873 | 68.88 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 68.73 | silver quality |
| temporal lobe | UBERON:0001871 | 68.43 | gold quality |
Single-cell (SCXA)
Detected in 5 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 7602.48 |
| E-HCAD-25 | yes | 5311.07 |
| E-GEOD-180759 | yes | 4129.24 |
| E-ANND-3 | yes | 3.99 |
| E-HCAD-30 | no | 6078.07 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
88 targeting LRRTM4, 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-4476 | 100.00 | 68.18 | 2030 |
| HSA-MIR-6876-5P | 100.00 | 67.68 | 2126 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-4533 | 100.00 | 69.48 | 2758 |
| HSA-MIR-4455 | 100.00 | 65.48 | 1587 |
| HSA-MIR-9-5P | 100.00 | 72.28 | 2361 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-6077 | 99.99 | 68.04 | 2299 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
| HSA-MIR-3688-3P | 99.97 | 72.02 | 2834 |
| HSA-MIR-302C-5P | 99.97 | 72.56 | 3642 |
| HSA-MIR-607 | 99.97 | 73.62 | 5593 |
| HSA-MIR-495-3P | 99.96 | 72.81 | 4197 |
| HSA-MIR-5688 | 99.96 | 73.23 | 4504 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-4666A-3P | 99.96 | 71.71 | 3434 |
| HSA-MIR-6845-3P | 99.94 | 66.88 | 1439 |
| HSA-MIR-651-3P | 99.94 | 73.48 | 5177 |
| HSA-MIR-3682-5P | 99.93 | 67.97 | 1163 |
| HSA-MIR-381-3P | 99.93 | 71.87 | 2854 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-300 | 99.92 | 71.76 | 2856 |
| HSA-MIR-10527-5P | 99.91 | 72.28 | 3754 |
Literature-anchored findings (GeneRIF, showing 2)
- Targeted sequencing of the LRRTM gene family in suicide attempters with bipolar disorder. (PMID:31854516)
- LRRTM4 Terminal Exon Duplicated in Family with Tourette Syndrome, Autism and ADHD. (PMID:35052406)
Cross-species orthologs
6 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | LRRTM4 | ENSDARG00000078839 |
| danio_rerio | lrrtm4l1 | ENSDARG00000080015 |
| danio_rerio | lrrtm4l2 | ENSDARG00000099386 |
| danio_rerio | LRRTM4 | ENSDARG00000106522 |
| mus_musculus | Lrrtm4 | ENSMUSG00000052581 |
| rattus_norvegicus | Lrrtm4 | ENSRNOG00000021938 |
Paralogs (22): DCN (ENSG00000011465), RTN4R (ENSG00000040608), ASPN (ENSG00000106819), FLRT3 (ENSG00000125848), FLRT1 (ENSG00000126500), LRRC4 (ENSG00000128594), LRRC4B (ENSG00000131409), PODNL1 (ENSG00000132000), LRTM1 (ENSG00000144771), LRRC4C (ENSG00000148948), LRRTM1 (ENSG00000162951), LRRC15 (ENSG00000172061), PODN (ENSG00000174348), BGN (ENSG00000182492), LRRC19 (ENSG00000184434), FLRT2 (ENSG00000185070), GP1BA (ENSG00000185245), RTN4RL1 (ENSG00000185924), RTN4RL2 (ENSG00000186907), NYX (ENSG00000188937), LRRC66 (ENSG00000188993), LRRTM3 (ENSG00000198739)
Protein
Protein identifiers
Leucine-rich repeat transmembrane neuronal protein 4 — Q86VH4 (reviewed: Q86VH4)
All UniProt accessions (4): B8ZZ84, C9JM64, Q86VH4, Q4KMX1
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the development and maintenance of the vertebrate nervous system. Exhibits strong synaptogenic activity, restricted to excitatory presynaptic differentiation.
Subunit / interactions. Peripherally associated with AMPAR complex. AMPAR complex consists of an inner core made of 4 pore-forming GluA/GRIA proteins (GRIA1, GRIA2, GRIA3 and GRIA4) and 4 major auxiliary subunits arranged in a twofold symmetry. One of the two pairs of distinct binding sites is occupied either by CNIH2, CNIH3 or CACNG2, CACNG3. The other harbors CACNG2, CACNG3, CACNG4, CACNG8 or GSG1L. This inner core of AMPAR complex is complemented by outer core constituents binding directly to the GluA/GRIA proteins at sites distinct from the interaction sites of the inner core constituents. Outer core constituents include at least PRRT1, PRRT2, CKAMP44/SHISA9, FRRS1L and NRN1. The proteins of the inner and outer core serve as a platform for other, more peripherally associated AMPAR constituents, including LRRTM4. Alone or in combination, these auxiliary subunits control the gating and pharmacology of the AMPAR complex and profoundly impact their biogenesis and protein processing.
Subcellular location. Cell membrane. Postsynaptic cell membrane.
Tissue specificity. Expressed in neuronal tissues.
Similarity. Belongs to the LRRTM family.
Isoforms (2)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q86VH4-1 | 1 | yes |
| Q86VH4-2 | 2 |
RefSeq proteins (5): NP_001128217, NP_001269853, NP_001269857, NP_001317299, NP_079269 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR050333 | SLRP | Family |
Pfam: PF13855
UniProt features (22 total): repeat 10, glycosylation site 3, domain 2, topological domain 2, splice variant 2, signal peptide 1, chain 1, transmembrane region 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q86VH4-F1 | 74.45 | 0.55 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Glycosylation sites (3): 58, 126, 291
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-6794361 | Neurexins and neuroligins |
| R-HSA-112316 | Neuronal System |
| R-HSA-6794362 | Protein-protein interactions at synapses |
MSigDB gene sets: 148 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_DN, 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, GGGTGGRR_PAX4_03, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, ATGTTAA_MIR302C, SRF_Q5_01, IRF7_01, CEBP_Q2, NKX62_Q2, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION
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), postsynaptic membrane (GO:0045211), membrane (GO:0016020), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Protein-protein interactions at synapses | 1 |
| Neuronal System | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| 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 |
| synaptic membrane | 1 |
| postsynapse | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
1630 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRTM4 | GPC4 | O75487 | 947 |
| LRRTM4 | CNPY2 | Q9Y2B0 | 854 |
| LRRTM4 | PTPRS | Q13332 | 853 |
| LRRTM4 | CTNNA2 | P26232 | 822 |
| LRRTM4 | GPC1 | P35052 | 722 |
| LRRTM4 | TRAPPC10 | P48553 | 636 |
| LRRTM4 | GPC3 | P51654 | 583 |
| LRRTM4 | NRXN1 | Q9ULB1 | 554 |
| LRRTM4 | NRXN2 | Q9P2S2 | 529 |
| LRRTM4 | CPQ | Q9Y646 | 491 |
| LRRTM4 | CCDC167 | Q9P0B6 | 489 |
| LRRTM4 | ARFGEF3 | Q5TH69 | 479 |
| LRRTM4 | LLPH | Q9BRT6 | 460 |
| LRRTM4 | RFX8 | Q6ZV50 | 457 |
| LRRTM4 | NLGN2 | Q8NFZ4 | 449 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRTM4 | AP3B1 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | SGPL1 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRTM4 | Dlg4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCRIB | CHD2 | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF426 | ABLIM3 | psi-mi:“MI:0914”(association) | 0.350 |
| PILRA | NID2 | psi-mi:“MI:0914”(association) | 0.350 |
| LRRTM3 | URB1 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (32): LRRTM4 (Affinity Capture-MS), LRRTM4 (Affinity Capture-MS), LRRTM4 (Affinity Capture-MS), LRRTM4 (Affinity Capture-Western), LRRTM4 (Proximity Label-MS), LRRTM4 (Affinity Capture-RNA), LRRTM4 (Affinity Capture-RNA), CDK11B (Affinity Capture-MS), AFF4 (Affinity Capture-MS), CNPY4 (Affinity Capture-MS), CHRAC1 (Affinity Capture-MS), CXXC1 (Affinity Capture-MS), CENPB (Affinity Capture-MS), AP3B1 (Affinity Capture-MS), BLK (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: A1A4H9, B4F7C5, D3ZAL8, D4A6D8, D4A7P2, O43300, O75093, P58874, Q5R6B1, Q80XG9, Q86UE6, Q86VH4, Q86VH5, Q8BGA3, Q8BZ81, Q8C2S7, Q8K377, Q920A0, Q9BGP6, Q9UBM4, O88279, P70186, Q1ENI8, Q3ZBN5, Q80TR4, Q99MQ4, Q9BXN1, O02678, Q80ZD7, Q80ZD8, A3KNN3, A6H789, A6H793, A6NJW4, A8WHP9, D4AC13, G5EFX6, O00468, O19045, O35367
SIGNOR signaling
0 interactions.
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 | 75 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2883 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 2:76748923:A:C | acceptor_gain | 1.0000 |
| 2:76748914:CAT:C | acceptor_gain | 0.9900 |
| 2:76748915:ATCTG:A | acceptor_loss | 0.9900 |
| 2:76748916:TC:T | acceptor_loss | 0.9900 |
| 2:76748918:T:A | acceptor_loss | 0.9900 |
| 2:76748923:A:AC | acceptor_gain | 0.9900 |
| 2:77024359:ATTT:A | donor_gain | 0.9900 |
| 2:77109390:C:A | donor_gain | 0.9900 |
| 2:77121661:A:AT | donor_gain | 0.9900 |
| 2:77227074:TGC:T | donor_gain | 0.9900 |
| 2:76748912:GGCAT:G | acceptor_gain | 0.9800 |
| 2:76748913:GCAT:G | acceptor_gain | 0.9800 |
| 2:76748914:CATC:C | acceptor_gain | 0.9800 |
| 2:76748915:AT:A | acceptor_gain | 0.9800 |
| 2:76748917:C:CC | acceptor_gain | 0.9800 |
| 2:76748921:A:AC | acceptor_gain | 0.9800 |
| 2:76748921:A:C | acceptor_gain | 0.9800 |
| 2:76923367:CAT:C | acceptor_gain | 0.9800 |
| 2:77004734:A:AC | donor_gain | 0.9800 |
| 2:77004735:C:CC | donor_gain | 0.9800 |
| 2:77043975:ATT:A | donor_gain | 0.9800 |
| 2:77121660:C:CT | donor_gain | 0.9800 |
| 2:76822900:CCATA:C | acceptor_gain | 0.9700 |
| 2:77011789:T:C | donor_gain | 0.9700 |
| 2:77024341:T:TA | donor_gain | 0.9700 |
| 2:77114556:T:C | acceptor_gain | 0.9700 |
| 2:76791046:A:AC | donor_gain | 0.9600 |
| 2:76791047:C:CC | donor_gain | 0.9600 |
| 2:76984007:C:CT | donor_gain | 0.9600 |
| 2:76984008:T:TT | donor_gain | 0.9600 |
AlphaMissense
3891 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 2:77518568:A:G | L434P | 1.000 |
| 2:77518574:A:G | L432P | 1.000 |
| 2:77518574:A:T | L432H | 1.000 |
| 2:77518577:G:T | A431D | 1.000 |
| 2:77518582:A:C | S429R | 1.000 |
| 2:77518582:A:T | S429R | 1.000 |
| 2:77518584:T:G | S429R | 1.000 |
| 2:77518586:C:T | G428E | 1.000 |
| 2:77518587:C:G | G428R | 1.000 |
| 2:77518587:C:T | G428R | 1.000 |
| 2:77518852:A:C | C339W | 1.000 |
| 2:77518853:C:G | C339S | 1.000 |
| 2:77518853:C:T | C339Y | 1.000 |
| 2:77518854:A:G | C339R | 1.000 |
| 2:77518854:A:T | C339S | 1.000 |
| 2:77518924:G:C | C315W | 1.000 |
| 2:77518925:C:G | C315S | 1.000 |
| 2:77518926:A:G | C315R | 1.000 |
| 2:77518926:A:T | C315S | 1.000 |
| 2:77518930:C:A | W313C | 1.000 |
| 2:77518930:C:G | W313C | 1.000 |
| 2:77518932:A:G | W313R | 1.000 |
| 2:77518932:A:T | W313R | 1.000 |
| 2:77518936:A:C | N311K | 1.000 |
| 2:77518936:A:T | N311K | 1.000 |
| 2:77519080:A:C | N263K | 1.000 |
| 2:77519080:A:T | N263K | 1.000 |
| 2:77519224:G:C | N215K | 1.000 |
| 2:77519224:G:T | N215K | 1.000 |
| 2:77519234:A:G | L212P | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000000707 (2:77135057 A>G), RS1000002136 (2:77006138 C>T), RS1000002662 (2:77065054 GAAT>G), RS1000003156 (2:76781750 G>A,C), RS1000004667 (2:77051714 G>T), RS1000006784 (2:77039776 T>C), RS1000012402 (2:77249581 T>A,C), RS1000013847 (2:77498256 A>T), RS1000015034 (2:77139019 T>A), RS1000016376 (2:77277456 C>A,T), RS1000020914 (2:76776567 T>C), RS1000023142 (2:77287447 T>G), RS1000027975 (2:76762618 G>A,T), RS1000032144 (2:77460633 G>A,C), RS1000032469 (2:77208840 C>T)
Disease associations
OMIM: gene MIM:610870 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
28 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST002337_174 | Amyotrophic lateral sclerosis (sporadic) | 2.000000e-08 |
| GCST002701_36 | Verbal declarative memory | 5.000000e-06 |
| GCST002985_1 | Middle childhood and early adolescence aggressive behavior | 6.000000e-07 |
| GCST002986_1 | Childhood and early adolescence aggressive behavior | 5.000000e-08 |
| GCST003657_6 | Attention deficit hyperactivity disorder symptom score | 6.000000e-06 |
| GCST003901_12 | Cognitive decline (age-related) | 3.000000e-06 |
| GCST007006_2 | Logical memory (delayed recall) in normal cognition | 7.000000e-08 |
| GCST007201_24 | Schizophrenia | 1.000000e-07 |
| GCST007201_409 | Schizophrenia | 1.000000e-06 |
| GCST007323_13 | Risk-taking tendency (4-domain principal component model) | 7.000000e-09 |
| GCST007326_39 | Number of sexual partners | 7.000000e-10 |
| GCST007565_186 | Morning person | 6.000000e-19 |
| GCST007565_70 | Morning person | 5.000000e-24 |
| GCST007576_269 | Chronotype | 2.000000e-10 |
| GCST007576_315 | Chronotype | 5.000000e-24 |
| GCST007576_369 | Chronotype | 5.000000e-11 |
| GCST008144_1 | Fasting plasma glucose | 8.000000e-06 |
| GCST008368_17 | Plasma anti-thyroid peroxidase levels | 5.000000e-06 |
| GCST009464_33 | Facial morphology | 4.000000e-08 |
| GCST010057_2 | Lung function | 1.000000e-06 |
| GCST010135_23 | Oily fish consumption | 8.000000e-10 |
| GCST010140_15 | Pork consumption | 8.000000e-10 |
| GCST010292_1 | Response to lamotrigine and valproic acid in genetic generalized epilepsy | 8.000000e-07 |
| GCST010396_61 | Gut microbiota (bacterial taxa, hurdle binary method) | 8.000000e-06 |
| GCST010536_6 | Carotid plaque maximum area | 3.000000e-06 |
| GCST010538_7 | Sum of carotid plaque area | 3.000000e-07 |
| GCST010762_1 | Hypotension and cognitive impairment | 6.000000e-06 |
| GCST010989_204 | Body size at age 10 | 4.000000e-15 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004874 | memory performance |
| EFO:0006805 | word list delayed recall measurement |
| EFO:0007860 | ADHD symptom measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0004312 | vital capacity |
| EFO:0008111 | diet measurement |
| EFO:0007874 | gut microbiome measurement |
| EFO:0006501 | carotid plaque build |
| EFO:0009819 | comparative body size at age 10, self-reported |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
20 total (human), top 20 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects expression, decreases expression, increases expression | 4 |
| trichostatin A | affects cotreatment, decreases expression | 2 |
| Cadmium | decreases expression, increases abundance | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| p-Chloromercuribenzoic Acid | affects cotreatment, decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases 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, decreases expression | 1 |
| dorsomorphin | decreases expression, affects cotreatment | 1 |
| Temozolomide | decreases expression | 1 |
| Fulvestrant | affects cotreatment, increases methylation | 1 |
| Arbutin | decreases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Urethane | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Okadaic Acid | decreases expression | 1 |
| Acrylamide | 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): hypotensive disorder, sporadic amyotrophic lateral sclerosis