LRFN4
gene geneOn this page
Also known as MGC3103SALM3.FIGLER6
Summary
LRFN4 (leucine rich repeat and fibronectin type III domain containing 4, HGNC:28456) is a protein-coding gene on chromosome 11q13.2, encoding Leucine-rich repeat and fibronectin type-III domain-containing protein 4 (Q6PJG9). Promotes neurite outgrowth in hippocampal neurons.
Predicted to be involved in regulation of postsynaptic density assembly; regulation of presynapse assembly; and synaptic membrane adhesion. Predicted to be located in plasma membrane. Predicted to be active in several cellular components, including GABA-ergic synapse; glutamatergic synapse; and postsynaptic density membrane.
Source: NCBI Gene 78999 — RefSeq curated summary.
At a glance
- GWAS associations: 3
- Clinical variants (ClinVar): 113 total — 3 pathogenic
- MANE Select transcript:
NM_024036
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:28456 |
| Approved symbol | LRFN4 |
| Name | leucine rich repeat and fibronectin type III domain containing 4 |
| Location | 11q13.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | MGC3103, SALM3., FIGLER6 |
| Ensembl gene | ENSG00000173621 |
| Ensembl biotype | protein_coding |
| OMIM | 612810 |
| Entrez | 78999 |
Gene structure
Transcript identifiers
Ensembl transcripts: 4 — 3 protein_coding, 1 protein_coding_CDS_not_defined
ENST00000309602, ENST00000393952, ENST00000531590, ENST00000939890
RefSeq mRNA: 2 — MANE Select: NM_024036
NM_001363524, NM_024036
CCDS: CCDS8153
Canonical transcript exons
ENST00000309602 — 2 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001187681 | 66859637 | 66860475 |
| ENSE00001187692 | 66857064 | 66859093 |
Expression profiles
Bgee: expression breadth ubiquitous, 214 present calls, max score 93.03.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 13.6621 / max 109.5274, expressed in 1761 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 115378 | 8.7657 | 1688 |
| 115376 | 2.1802 | 1079 |
| 115375 | 1.6892 | 949 |
| 115377 | 1.0270 | 562 |
Top tissues by expression
272 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| ganglionic eminence | UBERON:0004023 | 93.03 | gold quality |
| cortical plate | UBERON:0005343 | 91.52 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 91.39 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 90.24 | gold quality |
| cerebellar cortex | UBERON:0002129 | 90.16 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 90.04 | gold quality |
| cerebellum | UBERON:0002037 | 89.09 | gold quality |
| apex of heart | UBERON:0002098 | 88.17 | gold quality |
| right frontal lobe | UBERON:0002810 | 87.49 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 85.33 | gold quality |
| embryo | UBERON:0000922 | 85.24 | gold quality |
| cingulate cortex | UBERON:0003027 | 85.24 | gold quality |
| right uterine tube | UBERON:0001302 | 85.06 | gold quality |
| stromal cell of endometrium | CL:0002255 | 84.29 | gold quality |
| amygdala | UBERON:0001876 | 84.23 | gold quality |
| decidua | UBERON:0002450 | 84.23 | gold quality |
| sural nerve | UBERON:0015488 | 84.20 | gold quality |
| right testis | UBERON:0004534 | 83.99 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 83.97 | gold quality |
| left testis | UBERON:0004533 | 83.94 | gold quality |
| transverse colon | UBERON:0001157 | 83.73 | gold quality |
| tibial nerve | UBERON:0001323 | 83.60 | gold quality |
| neocortex | UBERON:0001950 | 83.48 | gold quality |
| prefrontal cortex | UBERON:0000451 | 83.39 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 83.29 | gold quality |
| frontal cortex | UBERON:0001870 | 83.06 | gold quality |
| ventricular zone | UBERON:0003053 | 82.50 | gold quality |
| cerebral cortex | UBERON:0000956 | 82.41 | gold quality |
| left adrenal gland cortex | UBERON:0035825 | 82.01 | gold quality |
| endocervix | UBERON:0000458 | 81.88 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 1.19 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
31 targeting LRFN4, 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-340-5P | 100.00 | 72.50 | 4437 |
| HSA-MIR-4795-3P | 100.00 | 74.62 | 4024 |
| HSA-MIR-4500 | 99.99 | 72.72 | 2367 |
| HSA-LET-7A-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7B-5P | 99.98 | 72.31 | 1790 |
| HSA-LET-7C-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7E-5P | 99.98 | 72.29 | 1790 |
| HSA-LET-7F-5P | 99.98 | 72.56 | 1784 |
| HSA-LET-7G-5P | 99.98 | 72.37 | 1784 |
| HSA-LET-7I-5P | 99.98 | 72.37 | 1788 |
| HSA-MIR-98-5P | 99.98 | 72.33 | 1787 |
| HSA-MIR-590-3P | 99.96 | 74.34 | 6478 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-6768-5P | 99.92 | 67.36 | 1942 |
| HSA-MIR-7162-3P | 99.89 | 68.16 | 1682 |
| HSA-MIR-548D-3P | 99.87 | 70.67 | 4362 |
| HSA-MIR-548BB-3P | 99.86 | 70.58 | 4354 |
| HSA-MIR-3663-3P | 99.84 | 70.39 | 798 |
| HSA-MIR-202-3P | 99.84 | 71.41 | 1290 |
| HSA-MIR-548AC | 99.84 | 70.77 | 4351 |
| HSA-MIR-548H-3P | 99.84 | 70.80 | 4349 |
| HSA-MIR-548Z | 99.84 | 70.80 | 4349 |
| HSA-MIR-6752-3P | 99.72 | 66.71 | 1587 |
| HSA-MIR-4251 | 99.40 | 69.19 | 3363 |
| HSA-MIR-544B | 99.18 | 67.41 | 1632 |
| HSA-MIR-6804-3P | 98.72 | 64.82 | 852 |
| HSA-MIR-210-5P | 98.57 | 64.37 | 832 |
| HSA-MIR-4443 | 98.02 | 66.25 | 1928 |
| HSA-MIR-6793-3P | 97.66 | 65.78 | 1084 |
Literature-anchored findings (GeneRIF, showing 5)
- Data indicate that LRFN4 signaling plays an important role in the migration of monocytes/macrophages. (PMID:21704618)
- LRFN4 complexed with 14-3-3s and NCK1 to mediate elongation in monocytic cells via Rac-1-mediated actin cytoskeleton reorganization (PMID:22677168)
- SALM3 regulates excitatory synapse development and locomotion behavior. (PMID:26321637)
- SALM3 is overexpressed in the tumor cells and fibroblasts of gastric cancer patients. High SALM3 expression is associated with poor prognosis. (PMID:31089399)
- [Expression and clinical significance of LRFN4 in colorectal cancer tissue]. (PMID:32536098)
Cross-species orthologs
2 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Lrfn4 | ENSMUSG00000045045 |
| rattus_norvegicus | Lrfn4 | ENSRNOG00000019356 |
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), 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 4 — Q6PJG9 (reviewed: Q6PJG9)
All UniProt accessions (2): Q6PJG9, E7ENX6
UniProt curated annotations — full annotation on UniProt →
Function. Promotes neurite outgrowth in hippocampal neurons. May play a role in redistributing DLG4 to the cell periphery.
Subunit / interactions. Can form heteromeric complexes with LRFN1, LRFN2, LRFN3 and LRFN5. Unable to form homophilic interactions across cell junctions. Interacts with DLG1, DLG2, DLG3 and DLG4.
Subcellular location. Membrane.
Post-translational modifications. Glycosylated.
Domain organisation. The PDZ-binding motif is required for neurite outgrowth promotion. This motif is also involved in DLG1-, DLG3- and DLG4-binding.
Similarity. Belongs to the LRFN family.
RefSeq proteins (2): NP_001350453, NP_076941* (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000483 | Cys-rich_flank_reg_C | Domain |
| IPR001611 | Leu-rich_rpt | Repeat |
| IPR003591 | Leu-rich_rpt_typical-subtyp | Repeat |
| IPR003598 | Ig_sub2 | Domain |
| IPR003599 | Ig_sub | Domain |
| IPR003961 | FN3_dom | Domain |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-set | 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: PF00041, PF00560, PF07679, PF13855
UniProt features (31 total): repeat 7, glycosylation site 6, domain 4, region of interest 2, topological domain 2, modified residue 2, signal peptide 1, chain 1, short sequence motif 1, compositionally biased region 1, disulfide bond 1, sequence variant 1, transmembrane region 1, mutagenesis site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q6PJG9-F1 | 78.25 | 0.54 |
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): 585, 626
Disulfide bonds (1): 302–351
Glycosylation sites (6): 25, 70, 324, 333, 376, 440
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 633–635 | loss of dlg1-, dlg3- and dlg4-binding. |
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-8849932 | Synaptic adhesion-like molecules |
| R-HSA-112316 | Neuronal System |
| R-HSA-6794362 | Protein-protein interactions at synapses |
MSigDB gene sets: 138 (showing top):
GAANYNYGACNY_UNKNOWN, GOBP_SYNAPSE_ASSEMBLY, GOCC_CELL_SURFACE, AREB6_01, GOBP_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, TGACCTY_ERR1_Q2, GOBP_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GGGTGGRR_PAX4_03, chr11q13, CEBPB_01, COUP_01, GOBP_CELL_CELL_ADHESION, WEI_MYCN_TARGETS_WITH_E_BOX, GOBP_CELL_JUNCTION_ORGANIZATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN
GO Biological Process (3): regulation of postsynaptic density assembly (GO:0099151), synaptic membrane adhesion (GO:0099560), regulation of presynapse assembly (GO:1905606)
GO Molecular Function (1): protein binding (GO:0005515)
GO Cellular Component (6): plasma membrane (GO:0005886), cell surface (GO:0009986), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), GABA-ergic synapse (GO:0098982), membrane (GO:0016020)
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 |
|---|---|
| cellular anatomical structure | 2 |
| synapse | 2 |
| postsynaptic density assembly | 1 |
| regulation of postsynaptic specialization assembly | 1 |
| regulation of excitatory synapse assembly | 1 |
| regulation of postsynaptic density organization | 1 |
| synapse organization | 1 |
| cell-cell adhesion | 1 |
| regulation of synapse assembly | 1 |
| presynapse assembly | 1 |
| regulation of presynapse organization | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
Protein interactions and networks
STRING
1382 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRFN4 | PTPRS | Q13332 | 816 |
| LRFN4 | IL1RAPL1 | Q9NZN1 | 752 |
| LRFN4 | DLG4 | P78352 | 692 |
| LRFN4 | IL1RAP | Q9NPH3 | 667 |
| LRFN4 | FN1 | P02751 | 601 |
| LRFN4 | SLC32A1 | Q9H598 | 474 |
| LRFN4 | NTNG1 | Q9Y2I2 | 466 |
| LRFN4 | NTRK3 | Q16288 | 464 |
| LRFN4 | SYP | P08247 | 462 |
| LRFN4 | POMGNT1 | Q8WZA1 | 459 |
| LRFN4 | NTNG2 | Q96CW9 | 443 |
| LRFN4 | EFHB | Q8N7U6 | 441 |
| LRFN4 | NRXN2 | Q9P2S2 | 430 |
| LRFN4 | KLC2 | Q9H0B6 | 430 |
| LRFN4 | KLC3 | Q6P597 | 429 |
IntAct
85 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| LRFN4 | NCK2 | psi-mi:“MI:0914”(association) | 0.730 |
| BMAL1 | CLOCK | psi-mi:“MI:0914”(association) | 0.720 |
| LRFN4 | NCK1 | psi-mi:“MI:0914”(association) | 0.690 |
| NCK2 | SH3PXD2B | psi-mi:“MI:0914”(association) | 0.640 |
| STX7 | SNAP23 | psi-mi:“MI:0914”(association) | 0.640 |
| MPDZ | SMCHD1 | psi-mi:“MI:0914”(association) | 0.590 |
| LRFN4 | NOTCH2NLA | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLA | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRFN4 | P4HB | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-1 | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRFN4 | ADAMTSL4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP10-8 | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP1-3 | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| NOTCH2NLC | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| KRTAP6-2 | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| P4HB | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CYSRT1 | LRFN4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| LRFN4 | PTPRD | psi-mi:“MI:0915”(physical association) | 0.540 |
| LRFN4 | PTPRS | psi-mi:“MI:0915”(physical association) | 0.540 |
| LRFN4 | PTPRF | psi-mi:“MI:0915”(physical association) | 0.540 |
BioGRID (98): NOTCH2NL (Two-hybrid), SPECC1L (Affinity Capture-MS), MYO18A (Affinity Capture-MS), AP2A1 (Affinity Capture-MS), AP2A2 (Affinity Capture-MS), AP1B1 (Affinity Capture-MS), FBXO46 (Affinity Capture-MS), REPS1 (Affinity Capture-MS), LRFN4 (Affinity Capture-MS), LRFN4 (Affinity Capture-MS), NCK2 (Affinity Capture-MS), DYNLL1 (Affinity Capture-MS), NCK1 (Affinity Capture-MS), LGALS1 (Affinity Capture-MS), LRFN4 (Affinity Capture-MS)
ESM2 similar proteins: A2A9Q0, A5PKD8, B0BNK7, D2HFT7, D4ABX8, E9Q7T7, O75325, O94819, P0C7J6, P0DKB5, Q04785, Q13641, Q1RMS4, Q24JP5, Q28730, Q2I0M4, Q2WF71, Q460M5, Q4R8Y9, Q50LG9, Q5PQV5, Q6NUI6, Q6PJG9, Q6UKI2, Q7M6Z0, Q80TG9, Q80W15, Q80WD1, Q80XU8, Q86UN3, Q86WK7, Q8BHA1, Q8BLY3, Q8BNW9, Q8C013, Q8WX77, Q96PE1, Q9BE71, Q9BTN0, Q9BY71
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
3 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| LRFN4 | up-regulates | Synaptic_plasticity | |
| LRFN4 | “up-regulates activity” | DLG4 | binding |
| LRFN4 | up-regulates | Neurite_outgrowth |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 66 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| response to endoplasmic reticulum stress | 5 | 14.9× | 8e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
113 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 3 |
| Likely pathogenic | 0 |
| Uncertain significance | 101 |
| Likely benign | 4 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (3)
| Variant ID | HGVS | Classification |
|---|---|---|
| 1030920 | NM_001040716.2(PC):c.1368+3605C>A | Pathogenic |
| 1457685 | NC_000011.9:g.(?66618135)(66639640_?)del | Pathogenic |
| 3896256 | NC_000011.9:g.(66616842_66617081)_(66639631_66719900)del | Pathogenic |
SpliceAI
298 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 11:66859636:GGATT:G | acceptor_gain | 1.0000 |
| 11:66859094:G:GA | donor_loss | 0.9900 |
| 11:66859095:T:G | donor_loss | 0.9900 |
| 11:66859099:G:GT | donor_gain | 0.9900 |
| 11:66859633:GCAG:G | acceptor_loss | 0.9900 |
| 11:66859635:A:AG | acceptor_gain | 0.9900 |
| 11:66859635:A:C | acceptor_loss | 0.9900 |
| 11:66859635:AG:A | acceptor_gain | 0.9900 |
| 11:66859636:G:GG | acceptor_gain | 0.9900 |
| 11:66859636:GG:G | acceptor_gain | 0.9900 |
| 11:66859075:A:G | donor_gain | 0.9800 |
| 11:66859094:G:GG | donor_gain | 0.9800 |
| 11:66859636:GGA:G | acceptor_gain | 0.9800 |
| 11:66859096:G:GG | donor_loss | 0.9700 |
| 11:66859636:GGAT:G | acceptor_gain | 0.9600 |
| 11:66859634:CAGGA:C | acceptor_gain | 0.9500 |
| 11:66859632:TGCAG:T | acceptor_gain | 0.9200 |
| 11:66859633:GCAGG:G | acceptor_gain | 0.9200 |
| 11:66859635:AGGAT:A | acceptor_gain | 0.9200 |
| 11:66859100:A:G | donor_gain | 0.9100 |
| 11:66856716:C:CA | donor_gain | 0.8800 |
| 11:66859632:T:TA | acceptor_gain | 0.8500 |
| 11:66859636:G:T | acceptor_gain | 0.8500 |
| 11:66859097:A:AC | donor_loss | 0.7800 |
| 11:66859509:C:CG | donor_gain | 0.7800 |
| 11:66857082:G:A | donor_gain | 0.7700 |
| 11:66859631:CTGCA:C | acceptor_gain | 0.7600 |
| 11:66859311:TCCC:T | donor_gain | 0.7500 |
| 11:66859663:T:TA | donor_gain | 0.7500 |
| 11:66858219:C:T | donor_gain | 0.7400 |
AlphaMissense
4004 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 11:66857902:T:C | L53P | 1.000 |
| 11:66857918:C:A | N58K | 1.000 |
| 11:66857918:C:G | N58K | 1.000 |
| 11:66857974:T:C | L77P | 1.000 |
| 11:66857989:A:T | N82I | 1.000 |
| 11:66857990:T:A | N82K | 1.000 |
| 11:66857990:T:G | N82K | 1.000 |
| 11:66858684:T:A | W314R | 1.000 |
| 11:66858684:T:C | W314R | 1.000 |
| 11:66858686:G:C | W314C | 1.000 |
| 11:66858686:G:T | W314C | 1.000 |
| 11:66858809:C:A | N355K | 1.000 |
| 11:66858809:C:G | N355K | 1.000 |
| 11:66857917:A:T | N58I | 0.999 |
| 11:66857947:T:C | F68S | 0.999 |
| 11:66857947:T:G | F68C | 0.999 |
| 11:66857988:A:T | N82Y | 0.999 |
| 11:66858046:T:A | L101H | 0.999 |
| 11:66858046:T:C | L101P | 0.999 |
| 11:66858052:T:C | L103P | 0.999 |
| 11:66858061:A:T | N106I | 0.999 |
| 11:66858062:C:A | N106K | 0.999 |
| 11:66858062:C:G | N106K | 0.999 |
| 11:66858118:T:C | L125P | 0.999 |
| 11:66858193:T:C | L150P | 0.999 |
| 11:66858199:T:C | L152P | 0.999 |
| 11:66858208:A:T | N155I | 0.999 |
| 11:66858209:C:A | N155K | 0.999 |
| 11:66858209:C:G | N155K | 0.999 |
| 11:66858279:A:T | N179Y | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000108299 (11:66855711 A>G), RS1000607687 (11:66859224 C>A,G), RS1001442385 (11:66856405 G>A,T), RS1001580764 (11:66856239 G>A), RS1002069642 (11:66859460 C>T), RS1002348780 (11:66860437 C>T), RS1002591167 (11:66856249 C>A), RS1002723359 (11:66856091 G>A,C), RS1002849907 (11:66857125 C>T), RS1003520205 (11:66857320 G>A,C), RS1004020266 (11:66857405 G>A,C), RS1004504517 (11:66859871 T>C), RS1004972521 (11:66858775 G>A), RS1005176822 (11:66860725 C>G,T), RS1005700699 (11:66858732 G>C)
Disease associations
OMIM: gene MIM:612810 | disease phenotypes: MIM:266150
GenCC curated gene-disease
Mondo (1): pyruvate carboxylase deficiency disease (MONDO:0009949)
Orphanet (1): Pyruvate carboxylase deficiency (Orphanet:3008)
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
3 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001241_12 | Bipolar disorder | 2.000000e-07 |
| GCST007324_130 | Adventurousness | 8.000000e-10 |
| GCST008103_30 | Bipolar disorder | 4.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0008579 | risk-taking behaviour |
MeSH disease descriptors (1)
| Descriptor | Name | Tree numbers |
|---|---|---|
| D015324 | Pyruvate Carboxylase Deficiency Disease | C10.228.140.163.100.725; C16.320.565.189.725; C16.320.565.202.810.666; C18.452.132.100.725; C18.452.648.189.725; C18.452.648.202.810.666; C18.452.660.705 |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
24 total (human), top 24 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| (+)-JQ1 compound | decreases expression | 2 |
| aristolochic acid I | increases expression | 1 |
| FR900359 | decreases phosphorylation | 1 |
| trichostatin A | affects expression | 1 |
| sodium arsenite | decreases expression | 1 |
| cupric chloride | increases expression | 1 |
| di-n-butylphosphoric acid | affects expression | 1 |
| abrine | decreases expression | 1 |
| jinfukang | increases expression | 1 |
| MT19c compound | decreases expression | 1 |
| 4-(4-((5-(4,5-dimethyl-2-nitrophenyl)-2-furanyl)methylene)-4,5-dihydro-3-methyl-5-oxo-1H-pyrazol-1-yl)benzoic acid | decreases expression | 1 |
| Bortezomib | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | increases expression | 1 |
| Hydrogen Peroxide | affects expression | 1 |
| Tretinoin | decreases expression | 1 |
| Valproic Acid | decreases expression, increases methylation | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | decreases expression | 1 |
| Cyclosporine | increases expression | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
Clinical trials (associated diseases)
1 trials via MONDO — disease-level, not drug-specific.
| Trial | Phase | Status | Title |
|---|---|---|---|
| NCT01461304 | Not specified | NO_LONGER_AVAILABLE | Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism |
Related Atlas pages
- Disease cohort memberships (association, not causation — diseases whose associated-gene cohort lists this gene; a subset are also under Associated diseases): pyruvate carboxylase deficiency disease