LRRC4C
geneOn this page
Also known as KIAA1580NGL-1
Summary
LRRC4C (leucine rich repeat containing 4C, HGNC:29317) is a protein-coding gene on chromosome 11p12, encoding Leucine-rich repeat-containing protein 4C (Q9HCJ2). May promote neurite outgrowth of developing thalamic neurons.
NGL1 is a specific binding partner for netrin G1 (NTNG1; MIM 608818), which is a member of the netrin family of axon guidance molecules (Lin et al., 2003 [PubMed 14595443]).
Source: NCBI Gene 57689 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 70 total
- MANE Select transcript:
NM_001258419
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:29317 |
| Approved symbol | LRRC4C |
| Name | leucine rich repeat containing 4C |
| Location | 11p12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | KIAA1580, NGL-1 |
| Ensembl gene | ENSG00000148948 |
| Ensembl biotype | protein_coding |
| OMIM | 608817 |
| Entrez | 57689 |
Gene structure
Transcript identifiers
Ensembl transcripts: 19 — 18 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000278198, ENST00000527150, ENST00000528697, ENST00000530763, ENST00000533474, ENST00000534577, ENST00000901039, ENST00000901040, ENST00000901041, ENST00000901042, ENST00000901043, ENST00000901044, ENST00000966813, ENST00000966814, ENST00000966815, ENST00000966816, ENST00000966817, ENST00000966818, ENST00000966819
RefSeq mRNA: 2 — MANE Select: NM_001258419
NM_001258419, NM_020929
CCDS: CCDS31464
Canonical transcript exons
ENST00000528697 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002147701 | 41459431 | 41459652 |
| ENSE00002149688 | 40648142 | 40648278 |
| ENSE00002162752 | 40140801 | 40140853 |
| ENSE00002177887 | 40933635 | 40933723 |
| ENSE00002197708 | 40319628 | 40319721 |
| ENSE00002199337 | 40241519 | 40241598 |
| ENSE00003844302 | 40114209 | 40116334 |
Expression profiles
Bgee: expression breadth ubiquitous, 206 present calls, max score 96.78.
FANTOM5 (CAGE): breadth broad, TPM avg 1.6277 / max 244.0114, expressed in 230 samples.
FANTOM5 promoters (10 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 119412 | 0.5157 | 134 |
| 119406 | 0.3103 | 105 |
| 119413 | 0.2182 | 80 |
| 119407 | 0.1484 | 69 |
| 119405 | 0.1137 | 68 |
| 119402 | 0.1096 | 52 |
| 119414 | 0.0828 | 50 |
| 119403 | 0.0677 | 37 |
| 119401 | 0.0402 | 14 |
| 119404 | 0.0213 | 10 |
Top tissues by expression
247 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 96.78 | gold quality |
| buccal mucosa cell | CL:0002336 | 96.04 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.86 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 95.74 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.22 | gold quality |
| postcentral gyrus | UBERON:0002581 | 94.51 | gold quality |
| parietal lobe | UBERON:0001872 | 94.48 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 94.25 | gold quality |
| ventral tegmental area | UBERON:0002691 | 92.46 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 92.01 | gold quality |
| occipital lobe | UBERON:0002021 | 91.82 | gold quality |
| lateral globus pallidus | UBERON:0002476 | 91.66 | gold quality |
| primary visual cortex | UBERON:0002436 | 91.57 | gold quality |
| medulla oblongata | UBERON:0001896 | 91.53 | gold quality |
| substantia nigra pars reticulata | UBERON:0001966 | 90.47 | gold quality |
| temporal lobe | UBERON:0001871 | 89.32 | gold quality |
| trigeminal ganglion | UBERON:0001675 | 88.72 | gold quality |
| frontal cortex | UBERON:0001870 | 88.55 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 88.55 | gold quality |
| prefrontal cortex | UBERON:0000451 | 88.35 | gold quality |
| neocortex | UBERON:0001950 | 87.76 | gold quality |
| subthalamic nucleus | UBERON:0001906 | 87.70 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 87.60 | gold quality |
| cerebral cortex | UBERON:0000956 | 87.52 | gold quality |
| dorsal plus ventral thalamus | UBERON:0001897 | 87.40 | gold quality |
| endothelial cell | CL:0000115 | 87.39 | silver quality |
| dorsal root ganglion | UBERON:0000044 | 87.15 | gold quality |
| corpus callosum | UBERON:0002336 | 86.88 | gold quality |
| pons | UBERON:0000988 | 86.69 | gold quality |
| inferior vagus X ganglion | UBERON:0005363 | 86.32 | gold quality |
Single-cell (SCXA)
Detected in 6 experiment(s), a significant marker in 5.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 7201.35 |
| E-HCAD-30 | yes | 7035.07 |
| E-GEOD-180759 | yes | 5760.13 |
| E-HCAD-25 | yes | 5505.16 |
| E-GEOD-84465 | yes | 298.34 |
| E-ANND-3 | no | 5.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting LRRC4C, 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-8068 | 99.98 | 73.85 | 2376 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-219A-5P | 99.91 | 73.36 | 735 |
| HSA-MIR-627-3P | 99.90 | 71.42 | 3316 |
| HSA-MIR-153-5P | 99.89 | 73.86 | 6317 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4782-3P | 99.88 | 73.31 | 735 |
| HSA-MIR-6766-3P | 99.88 | 73.38 | 732 |
| HSA-MIR-579-3P | 99.86 | 71.66 | 3628 |
| HSA-MIR-664B-3P | 99.84 | 71.65 | 3590 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
| HSA-MIR-4760-5P | 99.80 | 69.88 | 1619 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-8061 | 99.63 | 69.44 | 1411 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-548G-3P | 99.48 | 68.67 | 2159 |
| HSA-MIR-513A-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-513C-3P | 99.39 | 70.63 | 3620 |
| HSA-MIR-3606-3P | 99.11 | 69.84 | 3254 |
| HSA-MIR-936 | 98.87 | 70.51 | 1124 |
| HSA-MIR-508-3P | 98.66 | 69.62 | 887 |
| HSA-MIR-599 | 98.32 | 66.99 | 1037 |
| HSA-MIR-4445-5P | 97.21 | 66.16 | 832 |
| HSA-MIR-4288 | 97.11 | 67.23 | 1636 |
| HSA-MIR-5694 | 97.06 | 67.70 | 682 |
| HSA-MIR-346 | 97.01 | 66.97 | 662 |
| HSA-MIR-597-5P | 96.82 | 67.57 | 732 |
| HSA-MIR-616-3P | 96.82 | 66.99 | 784 |
| HSA-MIR-592 | 96.59 | 67.59 | 817 |
| HSA-MIR-632 | 96.08 | 67.17 | 798 |
Literature-anchored findings (GeneRIF, showing 4)
- NGL-1 is most abundant in the striatum and the cerebral cortex–the intermediate and final targets, of thalamocortical axons; surface-bound NGL-1 stimulates, but soluble NGL-1 disrupts, the growth of embryonic thalamic axons. (PMID:14595443)
- netrin-G1 functions as an important component of the NGL-1 receptor to promote TCA outgrowth and that membrane-bound netrins can participate in receiving axonal signaling pathways. (PMID:14595443)
- Interaction between the tripartite NGL-1, netrin-G1 and LAR adhesion complex promotes development of excitatory synapses. (PMID:23986473)
- These data suggest that the proband’s autism may be due to the inheritance of disruptions in both DPP6 and LRRC4C, and may highlight the importance of the netrin G family and potassium channel interacting molecules in neurodevelopmental disorders. (PMID:27759917)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrrc4cb | ENSDARG00000016739 |
| danio_rerio | lrrc4ca | ENSDARG00000113411 |
| mus_musculus | Lrrc4c | ENSMUSG00000050587 |
| rattus_norvegicus | Lrrc4c | ENSRNOG00000029798 |
Paralogs (22): DCN (ENSG00000011465), RTN4R (ENSG00000040608), ASPN (ENSG00000106819), FLRT3 (ENSG00000125848), FLRT1 (ENSG00000126500), LRRC4 (ENSG00000128594), LRRC4B (ENSG00000131409), PODNL1 (ENSG00000132000), LRTM1 (ENSG00000144771), LRRTM1 (ENSG00000162951), LRRC15 (ENSG00000172061), PODN (ENSG00000174348), LRRTM4 (ENSG00000176204), BGN (ENSG00000182492), LRRC19 (ENSG00000184434), FLRT2 (ENSG00000185070), GP1BA (ENSG00000185245), RTN4RL1 (ENSG00000185924), RTN4RL2 (ENSG00000186907), NYX (ENSG00000188937), LRRC66 (ENSG00000188993), LRRTM3 (ENSG00000198739)
Protein
Protein identifiers
Leucine-rich repeat-containing protein 4C — Q9HCJ2 (reviewed: Q9HCJ2)
Alternative names: Netrin-G1 ligand
All UniProt accessions (2): Q9HCJ2, E9PLP4
UniProt curated annotations — full annotation on UniProt →
Function. May promote neurite outgrowth of developing thalamic neurons.
Subunit / interactions. Interacts with NTNG1 and WHRN.
Subcellular location. Postsynaptic cell membrane.
Tissue specificity. Highly expressed in the cerebral cortex, including frontal, parietal and occipital lobes. Putamen, amygdala, hippocampus and medulla oblongata show moderate expression. Caudate nucleus and thalamus express small amounts, whereas other brain regions show very weak or no expression.
Domain organisation. The LRR region is both necessary and sufficient for the interaction with NTNG1.
RefSeq proteins (2): NP_001245348, NP_065980 (=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 |
| IPR013106 | Ig_V-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 (49 total): strand 22, repeat 9, turn 7, domain 3, helix 2, signal peptide 1, chain 1, region of interest 1, modified residue 1, disulfide bond 1, transmembrane region 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 3ZYJ | X-RAY DIFFRACTION | 3.25 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9HCJ2-F1 | 75.92 | 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.
Post-translational modifications (1): 631
Disulfide bonds (1): 375–426
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 107 (showing top):
MODULE_255, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MODULE_317, GOBP_NEUROGENESIS, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_CELL_ADHESION, GOBP_REGULATION_OF_CELL_PROJECTION_ORGANIZATION, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_SYNAPTIC_SIGNALING, GOBP_REGULATION_OF_NEURON_PROJECTION_DEVELOPMENT, GOBP_CELL_PROJECTION_ORGANIZATION, RIGGI_EWING_SARCOMA_PROGENITOR_UP, ACEVEDO_METHYLATED_IN_LIVER_CANCER_DN, SENESE_HDAC3_TARGETS_DN, GOCC_POSTSYNAPSE
GO Biological Process (3): regulation of axonogenesis (GO:0050770), modulation of chemical synaptic transmission (GO:0050804), synaptic membrane adhesion (GO:0099560)
GO Molecular Function (3): cell adhesion molecule binding (GO:0050839), cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)
GO Cellular Component (8): obsolete extracellular space (GO:0005615), plasma membrane (GO:0005886), membrane (GO:0016020), Schaffer collateral - CA1 synapse (GO:0098685), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), synapse (GO:0045202), postsynaptic membrane (GO:0045211)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cell-cell adhesion | 2 |
| synapse | 2 |
| axonogenesis | 1 |
| regulation of neuron projection development | 1 |
| regulation of anatomical structure morphogenesis | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| synapse organization | 1 |
| protein binding | 1 |
| cell adhesion mediator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| cell junction | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
Protein interactions and networks
STRING
1572 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC4C | NTNG2 | Q96CW9 | 999 |
| LRRC4C | NTNG1 | Q9Y2I2 | 999 |
| LRRC4C | WHRN | Q9P202 | 898 |
| LRRC4C | DLG4 | P78352 | 897 |
| LRRC4C | MYO15A | Q9UKN7 | 709 |
| LRRC4C | ADGRV1 | Q8WXG9 | 671 |
| LRRC4C | MPP1 | Q00013 | 649 |
| LRRC4C | USH1G | Q495M9 | 649 |
| LRRC4C | PTPRS | Q13332 | 631 |
| LRRC4C | NLGN1 | Q8N2Q7 | 618 |
| LRRC4C | NRXN1 | Q9ULB1 | 618 |
| LRRC4C | CDKL5 | O76039 | 608 |
| LRRC4C | USH2A | O75445 | 574 |
| LRRC4C | NTN1 | O95631 | 524 |
| LRRC4C | LRRTM1 | Q86UE6 | 488 |
IntAct
89 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRRC4C | DOLK | psi-mi:“MI:0915”(physical association) | 0.740 |
| NTNG1 | LRRC4C | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| LRRC4C | NTNG1 | psi-mi:“MI:0407”(direct interaction) | 0.620 |
| BRICD5 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CMTM5 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| SNAP47 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJB2 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 | |
| CLDN19 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| SMIM1 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| SERTM1 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| CLEC1A | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| LHFPL5 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| TWSG1 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| BMP10 | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| MIP | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
| AGTRAP | LRRC4C | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (98): LRRC4B (Affinity Capture-MS), LRRC4 (Affinity Capture-MS), VLDLR (Affinity Capture-MS), SULF1 (Affinity Capture-MS), SULF2 (Affinity Capture-MS), DVL2 (Affinity Capture-MS), SBF1 (Affinity Capture-MS), UBE2S (Affinity Capture-MS), NCOA5 (Affinity Capture-MS), DOLK (Affinity Capture-MS), NOB1 (Affinity Capture-MS), FSTL1 (Affinity Capture-MS), SLC39A11 (Affinity Capture-MS), BTBD1 (Affinity Capture-MS), MTMR1 (Affinity Capture-MS)
ESM2 similar proteins: C0STK7, C3YZ59, O00206, O15455, O42235, O60938, O62702, O93233, P58727, Q0PV50, Q2V898, Q45R42, Q58A48, Q5BK65, Q5M7S9, Q5TJ59, Q62192, Q65YW8, Q65Z91, Q68Y56, Q6AXL3, Q6DF55, Q6R5N8, Q6R5P0, Q7Z2Q7, Q80X72, Q8BMT4, Q8BZT5, Q8C031, Q8N6Y2, Q8R5M3, Q8SPE8, Q8SPE9, Q965M2, Q99467, Q99MB1, Q99PH1, Q9CQ76, Q9CXD9, Q9DE66
Diamond homologs: A0N0X6, A1KZ92, A2A8L5, A3KNN3, A4IFW2, A4IGL7, A4IIW9, A6H793, A7MBJ4, A8WGA3, B0BNK7, B0V2N1, B3MH43, B3NS99, B4GBH0, B4HNW4, B4KPU0, B4MR28, B4P5Q9, B4QC63, D2HFT7, D3YXG0, D4A1J9, D4ABX8, E9Q7T7, F1MLX5, F1NWE3, F1NY98, O55005, O60469, O75325, O89026, O94779, O95428, P0C6S8, P0C7J6, P10586, P16621, P59034, P59035
SIGNOR signaling
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| CDKL5 | unknown | LRRC4C | phosphorylation |
| NTNG1 | “up-regulates activity” | LRRC4C | binding |
| LRRC4C | “up-regulates activity” | DLG4 | binding |
Disease & clinical
Clinical variants and AI predictions
ClinVar
70 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 62 |
| Likely benign | 5 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
5533 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:40116331:CAGT:C | acceptor_gain | 1.0000 |
| 11:40286238:A:AC | donor_gain | 1.0000 |
| 11:40286239:C:CC | donor_gain | 1.0000 |
| 11:40319623:CTTA:C | donor_loss | 1.0000 |
| 11:40319624:TTA:T | donor_loss | 1.0000 |
| 11:40319625:TA:T | donor_loss | 1.0000 |
| 11:40319626:A:AC | donor_gain | 1.0000 |
| 11:40319626:ACCTT:A | donor_loss | 1.0000 |
| 11:40319627:C:A | donor_loss | 1.0000 |
| 11:40319627:C:CC | donor_gain | 1.0000 |
| 11:40319627:CCTTA:C | donor_gain | 1.0000 |
| 11:40319717:TATAC:T | acceptor_gain | 1.0000 |
| 11:40319719:TAC:T | acceptor_gain | 1.0000 |
| 11:40319720:AC:A | acceptor_gain | 1.0000 |
| 11:40319720:ACCT:A | acceptor_loss | 1.0000 |
| 11:40319721:CC:C | acceptor_gain | 1.0000 |
| 11:40319722:C:CC | acceptor_gain | 1.0000 |
| 11:40319722:C:CG | acceptor_loss | 1.0000 |
| 11:40319723:T:C | acceptor_loss | 1.0000 |
| 11:40325957:AAAG:A | donor_gain | 1.0000 |
| 11:40648137:CTTA:C | donor_loss | 1.0000 |
| 11:40648139:TA:T | donor_loss | 1.0000 |
| 11:40648140:A:AC | donor_gain | 1.0000 |
| 11:40648140:A:AT | donor_loss | 1.0000 |
| 11:40648141:C:CC | donor_gain | 1.0000 |
| 11:40648141:CCTG:C | donor_gain | 1.0000 |
| 11:40648274:AACTC:A | acceptor_gain | 1.0000 |
| 11:40648275:ACTC:A | acceptor_gain | 1.0000 |
| 11:40648276:CTC:C | acceptor_gain | 1.0000 |
| 11:40648276:CTCC:C | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000000042 (11:40527643 T>G), RS1000003613 (11:41182926 G>A), RS1000004912 (11:40508162 G>A), RS1000007690 (11:41389294 G>A,T), RS1000010453 (11:40591202 C>A,T), RS1000010723 (11:40935413 G>A), RS1000011794 (11:40295677 T>C), RS1000012628 (11:40178710 C>A,T), RS1000017249 (11:40932007 G>A), RS1000018791 (11:40667301 A>G), RS1000019555 (11:41320737 G>A), RS1000033720 (11:40214681 A>G), RS1000034971 (11:40457717 C>T), RS1000036259 (11:41022203 T>C), RS1000036443 (11:40389303 G>T)
Disease associations
OMIM: gene MIM:608817 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000698_1 | Osteoporosis-related phenotypes | 9.000000e-07 |
| GCST001419_10 | Temperament (bipolar disorder) | 6.000000e-06 |
| GCST003229_1 | Survival in colorectal cancer | 3.000000e-06 |
| GCST003262_382 | Post bronchodilator FEV1 | 1.000000e-06 |
| GCST003264_1612 | Post bronchodilator FEV1/FVC ratio | 1.000000e-06 |
| GCST003997_48 | Myopia | 9.000000e-66 |
| GCST004863_27 | Mosquito bite size | 6.000000e-06 |
| GCST005714_5 | Cerebrospinal fluid beta-site APP cleaving enzyme levels | 9.000000e-06 |
| GCST006291_130 | Spherical equivalent or myopia (age of diagnosis) | 2.000000e-44 |
| GCST006585_2583 | Blood protein levels | 2.000000e-08 |
| GCST007008_5 | Cerebrospinal fluid p-tau levels | 9.000000e-07 |
| GCST007323_33 | Risk-taking tendency (4-domain principal component model) | 2.000000e-08 |
| GCST007325_79 | General risk tolerance (MTAG) | 7.000000e-10 |
| GCST007327_126 | Smoking status (ever vs never smokers) | 3.000000e-09 |
| GCST007743_25 | Iris color (L* coordinate) | 4.000000e-06 |
| GCST008477_21 | Emphysema annual change measurement in smokers (adjusted lung density) | 9.000000e-06 |
| GCST009203_9 | Cerebellum cortex volume | 6.000000e-06 |
| GCST009646_4 | Diastolic blood pressure response to thiazide and thiazide-like diuretics in hypertension | 5.000000e-08 |
| GCST009962_14 | High myopia | 1.000000e-14 |
| GCST010002_235 | Refractive error | 1.000000e-175 |
| GCST011831_1 | Pediatric central nervous system tumors (early onset)(pleiotropy) | 8.000000e-07 |
| GCST012017_3 | Mastocytosis (KIT D816V positive) | 1.000000e-06 |
| GCST012400_11 | Low myopia vs hyperopia | 6.000000e-10 |
| GCST012402_33 | Low myopia | 3.000000e-10 |
| GCST012490_178 | Femur bone mineral density x serum urate levels interaction | 3.000000e-08 |
| GCST013216_1 | Order dimension in obsessive compulsive disorder | 6.000000e-06 |
EFO canonical traits (15, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004365 | personality trait |
| EFO:0000714 | survival time |
| EFO:0004314 | forced expiratory volume |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0008378 | mosquito bite reaction size measurement |
| EFO:0009179 | beta-secretase 1 measurement |
| EFO:0004847 | age at onset |
| EFO:0004763 | p-tau measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004318 | smoking behavior |
| EFO:0009764 | eye colour measurement |
| EFO:0007626 | emphysema imaging measurement |
| EFO:0006945 | diastolic blood pressure change measurement |
| EFO:0004531 | urate measurement |
| EFO:0007802 | obsessive-compulsive symptom measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
26 total (human), top 26 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, increases expression, decreases expression | 4 |
| trichostatin A | increases expression, affects cotreatment | 3 |
| Vorinostat | affects cotreatment, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| Silicon Dioxide | decreases expression, increases expression | 2 |
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | decreases methylation | 1 |
| decabromobiphenyl ether | increases expression | 1 |
| ethyl-p-hydroxybenzoate | decreases expression | 1 |
| sodium arsenite | increases expression | 1 |
| tetrabromobisphenol A | increases expression | 1 |
| aflatoxin B2 | increases methylation | 1 |
| tetrachlorodian | increases expression | 1 |
| mesotrione | affects methylation, increases abundance | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression, increases expression | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression, increases expression | 1 |
| 2,3,5-trichloro-6-phenyl-(1,4)benzoquinone | decreases expression | 1 |
| Allergens | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Carbamazepine | affects expression | 1 |
| Formaldehyde | decreases expression | 1 |
| Herbicides | affects methylation, increases abundance | 1 |
| Triclosan | increases expression | 1 |
| Aflatoxin B1 | affects methylation, decreases methylation | 1 |
| Particulate Matter | increases 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): central nervous system cancer, mastocytosis, osteoporosis