LRFN5
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Also known as FIGLER8SALM5
Summary
LRFN5 (leucine rich repeat and fibronectin type III domain containing 5, HGNC:20360) is a protein-coding gene on chromosome 14q21.1, encoding Leucine-rich repeat and fibronectin type-III domain-containing protein 5 (Q96NI6). Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner.
This gene encodes a protein that belongs to the leucine-rich repeat and fibronectin type III domain-containing family of proteins. A similar protein in mouse, a glycosylated transmembrane protein, is thought to function in presynaptic differentiation.
Source: NCBI Gene 145581 — RefSeq curated summary.
At a glance
- GWAS associations: 17
- Clinical variants (ClinVar): 103 total
- MANE Select transcript:
NM_152447
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:20360 |
| Approved symbol | LRFN5 |
| Name | leucine rich repeat and fibronectin type III domain containing 5 |
| Location | 14q21.1 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | FIGLER8, SALM5 |
| Ensembl gene | ENSG00000165379 |
| Ensembl biotype | protein_coding |
| OMIM | 612811 |
| Entrez | 145581 |
Gene structure
Transcript identifiers
Ensembl transcripts: 10 — 8 protein_coding, 2 protein_coding_CDS_not_defined
ENST00000298119, ENST00000553926, ENST00000554120, ENST00000554171, ENST00000555279, ENST00000935948, ENST00000935949, ENST00000935950, ENST00000955328, ENST00000955329
RefSeq mRNA: 4 — MANE Select: NM_152447
NM_001330106, NM_001346173, NM_001346175, NM_152447
CCDS: CCDS81800, CCDS9678
Canonical transcript exons
ENST00000298119 — 6 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001092594 | 41891250 | 41891962 |
| ENSE00001092595 | 41886606 | 41888010 |
| ENSE00001229115 | 41766854 | 41767029 |
| ENSE00001818723 | 41606876 | 41608562 |
| ENSE00003630388 | 41898917 | 41898960 |
| ENSE00003639774 | 41904158 | 41904549 |
Expression profiles
Bgee: expression breadth ubiquitous, 195 present calls, max score 96.41.
FANTOM5 (CAGE): breadth broad, TPM avg 2.8464 / max 129.1825, expressed in 473 samples.
FANTOM5 promoters (9 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 139395 | 0.6086 | 139 |
| 139388 | 0.5466 | 291 |
| 139393 | 0.5066 | 120 |
| 139389 | 0.4878 | 132 |
| 139394 | 0.2141 | 96 |
| 139390 | 0.1946 | 89 |
| 139392 | 0.1096 | 69 |
| 139396 | 0.1030 | 59 |
| 139391 | 0.0756 | 37 |
Top tissues by expression
257 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| middle temporal gyrus | UBERON:0002771 | 96.41 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 96.00 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 90.61 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.85 | gold quality |
| endothelial cell | CL:0000115 | 88.46 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 87.50 | gold quality |
| occipital lobe | UBERON:0002021 | 87.27 | gold quality |
| postcentral gyrus | UBERON:0002581 | 86.24 | gold quality |
| parietal lobe | UBERON:0001872 | 85.85 | gold quality |
| entorhinal cortex | UBERON:0002728 | 85.52 | gold quality |
| buccal mucosa cell | CL:0002336 | 85.47 | gold quality |
| prefrontal cortex | UBERON:0000451 | 84.42 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 84.03 | gold quality |
| frontal cortex | UBERON:0001870 | 83.97 | gold quality |
| cortical plate | UBERON:0005343 | 83.41 | gold quality |
| sural nerve | UBERON:0015488 | 82.96 | gold quality |
| neocortex | UBERON:0001950 | 82.93 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 82.88 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.28 | gold quality |
| oviduct epithelium | UBERON:0004804 | 81.93 | gold quality |
| right frontal lobe | UBERON:0002810 | 80.88 | gold quality |
| endocervix | UBERON:0000458 | 80.42 | gold quality |
| substantia nigra pars compacta | UBERON:0001965 | 79.25 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 78.73 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.62 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 78.59 | gold quality |
| uterine cervix | UBERON:0000002 | 78.33 | gold quality |
| temporal lobe | UBERON:0001871 | 78.28 | gold quality |
| ectocervix | UBERON:0012249 | 77.92 | gold quality |
| superior vestibular nucleus | UBERON:0007227 | 77.72 | gold quality |
Single-cell (SCXA)
Detected in 8 experiment(s), a significant marker in 7.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-35 | yes | 100.28 |
| E-HCAD-25 | yes | 89.28 |
| E-MTAB-5061 | yes | 13.45 |
| E-GEOD-81608 | yes | 6.72 |
| E-GEOD-81547 | yes | 6.48 |
| E-ENAD-27 | yes | 5.41 |
| E-ANND-3 | yes | 4.81 |
| E-MTAB-8060 | no | 41.56 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
36 targeting LRFN5, 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-6856-5P | 100.00 | 65.47 | 1298 |
| HSA-MIR-6758-5P | 100.00 | 66.21 | 1470 |
| HSA-MIR-3605-5P | 99.96 | 67.12 | 932 |
| HSA-MIR-139-5P | 99.80 | 69.50 | 1399 |
| HSA-MIR-5002-5P | 99.76 | 70.84 | 1763 |
| HSA-MIR-4306 | 99.72 | 70.50 | 3630 |
| HSA-MIR-494-3P | 99.70 | 71.45 | 2795 |
| HSA-MIR-4729 | 99.69 | 72.18 | 4233 |
| HSA-MIR-29B-2-5P | 99.67 | 68.98 | 1726 |
| HSA-MIR-510-3P | 99.54 | 70.06 | 2965 |
| HSA-MIR-7159-5P | 99.53 | 72.12 | 2472 |
| HSA-MIR-3609 | 99.52 | 69.89 | 2587 |
| HSA-MIR-548AH-5P | 99.52 | 69.73 | 2626 |
| HSA-MIR-12123 | 99.52 | 71.79 | 2990 |
| HSA-MIR-520E-5P | 99.27 | 68.90 | 1513 |
| HSA-MIR-5693 | 99.24 | 66.67 | 1106 |
| HSA-MIR-4426 | 99.17 | 66.74 | 1949 |
| HSA-MIR-4784 | 99.15 | 67.41 | 1733 |
| HSA-MIR-3688-5P | 99.12 | 69.67 | 1091 |
| HSA-MIR-622 | 98.99 | 66.48 | 1050 |
| HSA-MIR-3150B-3P | 98.81 | 67.21 | 1728 |
| HSA-MIR-583 | 98.71 | 67.44 | 1791 |
| HSA-MIR-3689A-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689B-5P | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689E | 98.35 | 70.12 | 1049 |
| HSA-MIR-3689F | 98.35 | 70.08 | 1052 |
| HSA-MIR-4662B | 98.33 | 66.37 | 1163 |
| HSA-MIR-4647 | 98.30 | 66.41 | 1139 |
| HSA-MIR-2681-3P | 98.18 | 65.28 | 577 |
| HSA-MIR-4768-3P | 98.16 | 66.02 | 2330 |
Literature-anchored findings (GeneRIF, showing 9)
- Expression of SALM family proteins SALM3 and SALM5 in nonneural and neural cells induces both excitatory and inhibitory presynaptic differentiation in contacting axons. (PMID:20410109)
- SALM5/Lrfn5, has recently been implicated in severe progressive autism and familial schizophrenia, pointing to the clinical importance of SALMs.[review] (PMID:21736948)
- Presynaptic differentiation induced by protein tyrosine phosphatase receptor type D (PTPdelta)-leucine rich repeat and fibronectin type III domain containing 5 (SALM5) requires the dimeric property of SALM5. (PMID:29348429)
- In the 2:2 heterotetrameric SALM5/PTPdelta complex, a SALM5 dimer bridges two separate PTPdelta molecules. (PMID:29348579)
- we found that chr14.232.a increases expression of LRFN5 in his fibroblasts. Reduced expression of LRFN5 in fibroblasts should be interpreted with caution as these cells might not be representative of expression in brain cells, which are involved in the neurodevelopmental phenotype. (PMID:31152157)
- Identification of novel common variants associated with chronic pain using conditional false discovery rate analysis with major depressive disorder and assessment of pleiotropic effects of LRFN5. (PMID:31748543)
- LRFN5 locus structure is associated with autism and influenced by the sex of the individual and locus conversions. (PMID:35088940)
- CircLRFN5 inhibits the progression of glioblastoma via PRRX2/GCH1 mediated ferroptosis. (PMID:36266731)
- LRFN5 and OLFM4 as novel potential biomarkers for major depressive disorder: a pilot study. (PMID:37280213)
Cross-species orthologs
3 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrfn5a | ENSDARG00000071230 |
| mus_musculus | Lrfn5 | ENSMUSG00000035653 |
| rattus_norvegicus | Lrfn5 | ENSRNOG00000005550 |
Paralogs (25): SLITRK3 (ENSG00000121871), LRFN3 (ENSG00000126243), LRFN1 (ENSG00000128011), SLIT2 (ENSG00000145147), LRFN2 (ENSG00000156564), LRRC38 (ENSG00000162494), SLITRK5 (ENSG00000165300), LRTM2 (ENSG00000166159), LINGO1 (ENSG00000169783), LRRN2 (ENSG00000170382), LRRN3 (ENSG00000173114), LRFN4 (ENSG00000173621), LINGO2 (ENSG00000174482), 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 fibronectin type-III domain-containing protein 5 — Q96NI6 (reviewed: Q96NI6)
All UniProt accessions (3): Q96NI6, G3V364, G3V4N1
UniProt curated annotations — full annotation on UniProt →
Function. Cell adhesion molecule that mediates homophilic cell-cell adhesion in a Ca(2+)-independent manner. Promotes neurite outgrowth in hippocampal neurons.
Subunit / interactions. Can form heteromeric complexes with LRFN1, LRFN2, LRFN3 and LFRN4. Able to form homomeric complexes across cell junctions, between adjacent cells. Does not interact with DLG1, DLG2, DLG3 and DLG4.
Subcellular location. Membrane.
Domain organisation. Lacks a cytoplasmic PDZ-binding motif, which has been implicated in function of related LRFN proteins.
Similarity. Belongs to the LRFN family.
RefSeq proteins (4): NP_001317035, NP_001333102, NP_001333104, NP_689660* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| 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 |
| IPR013783 | Ig-like_fold | Homologous_superfamily |
| IPR032675 | LRR_dom_sf | Homologous_superfamily |
| IPR036116 | FN3_sf | Homologous_superfamily |
| IPR036179 | Ig-like_dom_sf | Homologous_superfamily |
| IPR050467 | LRFN | Family |
Pfam: PF13855, PF13927
UniProt features (54 total): strand 13, helix 8, repeat 7, glycosylation site 6, domain 4, compositionally biased region 4, region of interest 2, topological domain 2, sequence conflict 2, turn 2, signal peptide 1, chain 1, disulfide bond 1, transmembrane region 1
Structure
Experimental structures (PDB)
4 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 5XNQ | X-RAY DIFFRACTION | 2.8 |
| 5XWS | X-RAY DIFFRACTION | 3.08 |
| 5XNP | X-RAY DIFFRACTION | 3.73 |
| 5XWT | X-RAY DIFFRACTION | 4.18 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q96NI6-F1 | 74.66 | 0.49 |
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): 308–357
Glycosylation sites (6): 73, 330, 339, 382, 406, 452
Function
Pathways and Gene Ontology
Reactome pathways
0 pathways
MSigDB gene sets: 137 (showing top):
GOBP_REGULATION_OF_CELL_ACTIVATION, BENPORATH_ES_WITH_H3K27ME3, WHITEHURST_PACLITAXEL_SENSITIVITY, GOBP_INFLAMMATORY_RESPONSE, GOBP_SYNAPSE_ASSEMBLY, GCANCTGNY_MYOD_Q6, GOBP_REGULATION_OF_MACROPHAGE_ACTIVATION, GOCC_CELL_SURFACE, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, TGACCTY_ERR1_Q2, CHX10_01, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, CAGCTG_AP4_Q5, GOBP_CELL_CELL_ADHESION
GO Biological Process (4): negative regulation of macrophage activation (GO:0043031), negative regulation of inflammatory response (GO:0050728), synaptic membrane adhesion (GO:0099560), regulation of presynapse assembly (GO:1905606)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (5): cell surface (GO:0009986), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), membrane (GO:0016020)
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| synapse | 2 |
| negative regulation of leukocyte activation | 1 |
| macrophage activation | 1 |
| regulation of macrophage activation | 1 |
| inflammatory response | 1 |
| negative regulation of defense response | 1 |
| negative regulation of response to external stimulus | 1 |
| regulation of inflammatory response | 1 |
| synapse organization | 1 |
| cell-cell adhesion | 1 |
| regulation of synapse assembly | 1 |
| presynapse assembly | 1 |
| regulation of presynapse organization | 1 |
| binding | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
Protein interactions and networks
STRING
1412 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRFN5 | DLG4 | P78352 | 726 |
| LRFN5 | PTPRS | Q13332 | 694 |
| LRFN5 | ANTXR2 | P58335 | 601 |
| LRFN5 | IL1RAPL1 | Q9NZN1 | 582 |
| LRFN5 | FBXO33 | Q7Z6M2 | 555 |
| LRFN5 | FN1 | P02751 | 517 |
| LRFN5 | TNFRSF14 | Q92956 | 514 |
| LRFN5 | CTNND2 | Q9UQB3 | 506 |
| LRFN5 | TJP2 | Q9UDY2 | 488 |
| LRFN5 | SYP | P08247 | 466 |
| LRFN5 | RABEPK | Q7Z6M1 | 459 |
| LRFN5 | TRAPPC6B | Q86SZ2 | 451 |
| LRFN5 | LAD1 | O00515 | 444 |
| LRFN5 | SHANK3 | Q9BYB0 | 431 |
| LRFN5 | FNDC10 | F2Z333 | 428 |
IntAct
9 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRFN5 | PTPRD | psi-mi:“MI:0915”(physical association) | 0.540 |
| PTPRF | LRFN5 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PTPRS | LRFN5 | psi-mi:“MI:0915”(physical association) | 0.540 |
| PTPRS | LRFN5 | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| LRFN5 | PTPRD | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| LRFN5 | PTPRF | psi-mi:“MI:0407”(direct interaction) | 0.540 |
| BTNL9 | LRFN5 | psi-mi:“MI:0915”(physical association) | 0.400 |
| TLK2 | IGKV1D-13 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (2): LRFN5 (Affinity Capture-RNA), LRFN5 (Affinity Capture-MS)
ESM2 similar proteins: A1XQX1, A1XQX3, A1XQY0, A8WGA3, C6K2K4, D0PRN2, D0PRN4, D4A1J9, E9PUN2, O13097, O42596, O73612, O73874, P0DI97, P52795, P52796, P58400, P58401, P98172, Q01974, Q0PMD2, Q17QD6, Q28142, Q28143, Q460M5, Q63373, Q63376, Q6NW40, Q6PCX7, Q6PFE7, Q7TQ33, Q80TG9, Q8BNJ6, Q8BXA0, Q8C985, Q8IYR6, Q8NC67, Q91590, Q96B86, Q96NI6
Diamond homologs: A0A1Y9G8H0, A0A452E9Y6, A1KZ92, A2A8L5, A2AJ76, A4IFW2, A4IGL7, A4IIW9, A5JUY8, A7MBJ4, A8WGA3, A8WQH2, B0BNK7, B3A0P3, D2HFT7, D3YXG0, D4A1J9, D4ABX8, G5EBF1, G5EG78, H2A0M7, O15146, O35158, O55005, O89026, P05164, P07202, P09933, P0C6S8, P0C7J6, P11247, P11678, P14650, P16621, P22079, P23468, P35419, P49290, P70193, P80025
SIGNOR signaling
6 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LRFN5 | up-regulates | Synaptic_plasticity | |
| LRFN5 | “up-regulates activity” | PTPRD | binding |
| LRFN5 | “up-regulates activity” | PTPRF | binding |
| LRFN5 | “up-regulates activity” | PTPRS | binding |
| LRFN5 | up-regulates | Neurite_outgrowth |
Disease & clinical
Clinical variants and AI predictions
ClinVar
103 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 81 |
| Likely benign | 8 |
| Benign | 6 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2936 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 14:41767027:GAA:G | donor_gain | 1.0000 |
| 14:41767030:G:GG | donor_gain | 1.0000 |
| 14:41891249:GA:G | acceptor_gain | 1.0000 |
| 14:41610224:G:GA | donor_gain | 0.9900 |
| 14:41639479:T:G | donor_gain | 0.9900 |
| 14:41766836:T:TA | acceptor_gain | 0.9900 |
| 14:41766840:T:TA | acceptor_gain | 0.9900 |
| 14:41766849:T:A | acceptor_gain | 0.9900 |
| 14:41766852:A:AG | acceptor_gain | 0.9900 |
| 14:41766853:G:GG | acceptor_gain | 0.9900 |
| 14:41766853:GA:G | acceptor_gain | 0.9900 |
| 14:41767028:AAGT:A | donor_loss | 0.9900 |
| 14:41767029:AGT:A | donor_loss | 0.9900 |
| 14:41767031:TA:T | donor_loss | 0.9900 |
| 14:41767032:AAGTT:A | donor_loss | 0.9900 |
| 14:41891245:CTCAG:C | acceptor_loss | 0.9900 |
| 14:41891246:TCAGA:T | acceptor_loss | 0.9900 |
| 14:41891247:CAG:C | acceptor_loss | 0.9900 |
| 14:41891248:A:AG | acceptor_gain | 0.9900 |
| 14:41891248:AG:A | acceptor_loss | 0.9900 |
| 14:41891248:AGAAT:A | acceptor_gain | 0.9900 |
| 14:41891249:G:GG | acceptor_gain | 0.9900 |
| 14:41891249:GAAT:G | acceptor_gain | 0.9900 |
| 14:41891249:GAATG:G | acceptor_gain | 0.9900 |
| 14:41610223:T:TA | donor_gain | 0.9800 |
| 14:41680848:G:GT | donor_gain | 0.9800 |
| 14:41761557:T:TA | acceptor_gain | 0.9800 |
| 14:41874059:A:G | acceptor_gain | 0.9800 |
| 14:41876178:A:AG | donor_gain | 0.9800 |
| 14:41889838:T:TA | donor_gain | 0.9800 |
AlphaMissense
4747 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 14:41886792:T:C | L56P | 1.000 |
| 14:41886837:T:C | F71S | 1.000 |
| 14:41886864:T:C | L80P | 1.000 |
| 14:41886879:A:T | N85I | 1.000 |
| 14:41886880:T:A | N85K | 1.000 |
| 14:41886880:T:G | N85K | 1.000 |
| 14:41887080:T:C | L152P | 1.000 |
| 14:41887096:T:A | N157K | 1.000 |
| 14:41887096:T:G | N157K | 1.000 |
| 14:41887168:T:A | N181K | 1.000 |
| 14:41887168:T:G | N181K | 1.000 |
| 14:41887239:A:T | N205I | 1.000 |
| 14:41887240:T:A | N205K | 1.000 |
| 14:41887240:T:G | N205K | 1.000 |
| 14:41887245:T:C | L207S | 1.000 |
| 14:41887345:C:A | N240K | 1.000 |
| 14:41887345:C:G | N240K | 1.000 |
| 14:41887375:G:C | W250C | 1.000 |
| 14:41887375:G:T | W250C | 1.000 |
| 14:41887485:C:A | P287H | 1.000 |
| 14:41887547:T:A | C308S | 1.000 |
| 14:41887547:T:C | C308R | 1.000 |
| 14:41887548:G:C | C308S | 1.000 |
| 14:41887549:C:G | C308W | 1.000 |
| 14:41887559:G:A | G312R | 1.000 |
| 14:41887559:G:C | G312R | 1.000 |
| 14:41887560:G:A | G312E | 1.000 |
| 14:41887583:T:A | W320R | 1.000 |
| 14:41887583:T:C | W320R | 1.000 |
| 14:41887584:G:C | W320S | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000032149 (14:41697974 G>A,T), RS1000041305 (14:41772953 C>A,G), RS1000042995 (14:41660142 C>G), RS1000058658 (14:41681824 A>T), RS1000065550 (14:41703982 A>G), RS1000075723 (14:41866111 A>G,T), RS1000089643 (14:41801934 C>G,T), RS1000092589 (14:41615460 T>G), RS1000109398 (14:41694548 C>A), RS1000120041 (14:41744442 G>A), RS1000132746 (14:41685658 G>A), RS1000134769 (14:41850048 C>G,T), RS1000137286 (14:41730148 T>A), RS1000139556 (14:41785107 G>T), RS1000159499 (14:41607864 G>A)
Disease associations
OMIM: gene MIM:612811 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
17 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001378_1 | Hemostatic factors and hematological phenotypes | 7.000000e-06 |
| GCST001890_3 | QT interval (drug interaction) | 5.000000e-06 |
| GCST002828_30 | Urate levels in obese individuals | 9.000000e-06 |
| GCST002937_6 | Molybdenum levels | 2.000000e-06 |
| GCST003997_40 | Myopia | 2.000000e-16 |
| GCST005839_34 | Depression | 3.000000e-09 |
| GCST006291_102 | Spherical equivalent or myopia (age of diagnosis) | 1.000000e-19 |
| GCST006485_10 | Telomere length | 8.000000e-08 |
| GCST006616_5 | Uterine fibroid number (single vs multiple) | 7.000000e-07 |
| GCST007324_6 | Adventurousness | 8.000000e-10 |
| GCST007325_165 | General risk tolerance (MTAG) | 2.000000e-11 |
| GCST007576_183 | Chronotype | 6.000000e-09 |
| GCST009600_25 | Anorexia nervosa, attention-deficit/hyperactivity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, or Tourette syndrome (pleiotropy) | 2.000000e-08 |
| GCST009863_22 | Insulin-related traits (multivariate analysis) | 5.000000e-08 |
| GCST010002_149 | Refractive error | 1.000000e-39 |
| GCST010988_535 | Adult body size | 2.000000e-09 |
| GCST010988_536 | Adult body size | 4.000000e-10 |
EFO canonical traits (10, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004503 | hematological measurement |
| EFO:0004637 | protein S measurement |
| EFO:0004682 | QT interval |
| EFO:0007922 | response to sulfonylurea |
| EFO:0004531 | urate measurement |
| EFO:0004847 | age at onset |
| EFO:0009410 | uterine fibroid measurement |
| EFO:0008579 | risk-taking behaviour |
| EFO:0008328 | chronotype measurement |
| EFO:0004467 | insulin measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
21 total (human), top 21 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| aristolochic acid I | decreases expression | 1 |
| bisphenol A | affects cotreatment, increases methylation | 1 |
| arsenite | increases methylation | 1 |
| S-(1,2-dichlorovinyl)cysteine | affects response to substance, increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | increases expression, affects cotreatment | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Resveratrol | decreases expression, affects cotreatment | 1 |
| Sunitinib | decreases expression | 1 |
| Fulvestrant | increases methylation, affects cotreatment | 1 |
| Vorinostat | affects cotreatment, increases expression | 1 |
| Acetaminophen | decreases expression | 1 |
| Benzo(a)pyrene | affects methylation, decreases methylation | 1 |
| Cytarabine | decreases expression | 1 |
| Lipopolysaccharides | affects response to substance, increases expression | 1 |
| Plant Extracts | affects cotreatment, decreases expression | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | increases expression | 1 |
| Valproic Acid | decreases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Aflatoxin B1 | decreases methylation | 1 |
| Okadaic Acid | 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): refractive error