LRRC4B
gene geneOn this page
Also known as DKFZp761A179HSMNGL-3
Summary
LRRC4B (leucine rich repeat containing 4B, HGNC:25042) is a protein-coding gene on chromosome 19q13.33, encoding Leucine-rich repeat-containing protein 4B (Q9NT99). Synaptic adhesion protein.
Predicted to enable signaling receptor binding activity. Predicted to be involved in regulation of synapse assembly and synaptic membrane adhesion. Predicted to be located in cerebellar mossy fiber and presynaptic membrane. Predicted to be active in glutamatergic synapse and postsynaptic density membrane.
Source: NCBI Gene 94030 — RefSeq curated summary.
At a glance
- GWAS associations: 1
- Clinical variants (ClinVar): 75 total
- MANE Select transcript:
NM_001080457
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:25042 |
| Approved symbol | LRRC4B |
| Name | leucine rich repeat containing 4B |
| Location | 19q13.33 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DKFZp761A179, HSM, NGL-3 |
| Ensembl gene | ENSG00000131409 |
| Ensembl biotype | protein_coding |
| Entrez | 94030 |
Gene structure
Transcript identifiers
Ensembl transcripts: 9 — 9 protein_coding
ENST00000389201, ENST00000599957, ENST00000600381, ENST00000652263, ENST00000903737, ENST00000903738, ENST00000903739, ENST00000940244, ENST00000940245
RefSeq mRNA: 2 — MANE Select: NM_001080457
NM_001080457, NM_001348568
CCDS: CCDS42595
Canonical transcript exons
ENST00000652263 — 3 exons
| Exon | Start | End |
|---|---|---|
| ENSE00003850161 | 50567944 | 50568435 |
| ENSE00003890031 | 50548542 | 50548873 |
| ENSE00003894562 | 50516892 | 50519415 |
Expression profiles
Bgee: expression breadth ubiquitous, 164 present calls, max score 96.66.
FANTOM5 (CAGE): breadth broad, TPM avg 7.0232 / max 223.0532, expressed in 450 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 182236 | 5.7187 | 424 |
| 182237 | 1.1268 | 327 |
| 182230 | 0.1719 | 68 |
| 182228 | 0.0059 | 1 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 96.66 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.31 | gold quality |
| ventricular zone | UBERON:0003053 | 96.07 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 95.79 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 95.51 | gold quality |
| ganglionic eminence | UBERON:0004023 | 95.43 | gold quality |
| prefrontal cortex | UBERON:0000451 | 95.19 | gold quality |
| amygdala | UBERON:0001876 | 95.06 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 94.88 | gold quality |
| hypothalamus | UBERON:0001898 | 94.78 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 94.33 | gold quality |
| nucleus accumbens | UBERON:0001882 | 94.28 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 94.09 | gold quality |
| cerebellar cortex | UBERON:0002129 | 94.03 | gold quality |
| putamen | UBERON:0001874 | 93.68 | gold quality |
| caudate nucleus | UBERON:0001873 | 93.04 | gold quality |
| cerebellum | UBERON:0002037 | 92.72 | gold quality |
| frontal cortex | UBERON:0001870 | 92.21 | gold quality |
| spinal cord | UBERON:0002240 | 92.11 | gold quality |
| neocortex | UBERON:0001950 | 92.06 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 92.01 | gold quality |
| endocervix | UBERON:0000458 | 89.96 | gold quality |
| forebrain | UBERON:0001890 | 89.68 | gold quality |
| brain | UBERON:0000955 | 89.46 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.46 | gold quality |
| Ammon’s horn | UBERON:0001954 | 88.28 | gold quality |
| substantia nigra | UBERON:0002038 | 87.98 | gold quality |
| adenohypophysis | UBERON:0002196 | 87.92 | gold quality |
| pituitary gland | UBERON:0000007 | 86.00 | gold quality |
| midbrain | UBERON:0001891 | 85.75 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 0.78 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
59 targeting LRRC4B, 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-4283 | 100.00 | 66.42 | 2097 |
| HSA-MIR-559 | 99.95 | 72.28 | 3609 |
| HSA-MIR-548AB | 99.95 | 71.31 | 3488 |
| HSA-MIR-185-3P | 99.95 | 67.01 | 1743 |
| HSA-MIR-548A-5P | 99.94 | 71.27 | 3482 |
| HSA-MIR-548AD-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AE-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548AK | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AM-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AP-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548AQ-5P | 99.94 | 71.34 | 3426 |
| HSA-MIR-548AR-5P | 99.94 | 71.28 | 3515 |
| HSA-MIR-548AS-5P | 99.94 | 71.22 | 3482 |
| HSA-MIR-548AU-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548AY-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548B-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548BB-5P | 99.94 | 71.27 | 3509 |
| HSA-MIR-548C-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548D-5P | 99.94 | 71.23 | 3502 |
| HSA-MIR-548H-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548I | 99.94 | 71.25 | 3481 |
| HSA-MIR-548J-5P | 99.94 | 71.14 | 3489 |
| HSA-MIR-548O-5P | 99.94 | 71.24 | 3488 |
| HSA-MIR-548W | 99.94 | 71.24 | 3488 |
| HSA-MIR-548Y | 99.94 | 71.28 | 3514 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3151-5P | 99.86 | 63.83 | 1069 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-4447 | 99.85 | 67.81 | 2900 |
| HSA-MIR-6785-5P | 99.82 | 68.68 | 4428 |
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | lrrc4ba | ENSDARG00000004597 |
| danio_rerio | lrrc4bb | ENSDARG00000014792 |
| mus_musculus | Lrrc4b | ENSMUSG00000047085 |
| rattus_norvegicus | Lrrc4b | ENSRNOG00000019418 |
Paralogs (22): DCN (ENSG00000011465), RTN4R (ENSG00000040608), ASPN (ENSG00000106819), FLRT3 (ENSG00000125848), FLRT1 (ENSG00000126500), LRRC4 (ENSG00000128594), PODNL1 (ENSG00000132000), LRTM1 (ENSG00000144771), LRRC4C (ENSG00000148948), 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 4B — Q9NT99 (reviewed: Q9NT99)
Alternative names: Netrin-G3 ligand
All UniProt accessions (2): Q9NT99, M0R2G0
UniProt curated annotations — full annotation on UniProt →
Function. Synaptic adhesion protein. Regulates the formation of excitatory synapses. The trans-synaptic adhesion between LRRC4B and PTPRF regulates the formation of excitatory synapses in a bidirectional manner.
Subunit / interactions. Interacts with PTPRF. Interacts with DLG4.
Subcellular location. Membrane. Presynaptic cell membrane.
Post-translational modifications. N-glycosylated. O-glycosylated; contains sialic acid.
Domain organisation. The last 4 C-terminal residues bind to the first 2 PDZ domains of DLG4.
RefSeq proteins (2): NP_001073926, NP_001335497 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000372 | LRRNT | Domain |
| 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 |
| IPR007110 | Ig-like_dom | Domain |
| IPR013098 | Ig_I-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 (33 total): repeat 9, glycosylation site 9, domain 3, region of interest 2, compositionally biased region 2, topological domain 2, signal peptide 1, chain 1, modified residue 1, transmembrane region 1, disulfide bond 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9NT99-F1 | 73.36 | 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 (1): 693
Disulfide bonds (1): 385–436
Glycosylation sites (9): 224, 283, 333, 374, 400, 422, 425, 444, 452
Function
Pathways and Gene Ontology
Reactome pathways
3 pathways
| ID | Pathway |
|---|---|
| R-HSA-388844 | Receptor-type tyrosine-protein phosphatases |
| R-HSA-112316 | Neuronal System |
| R-HSA-6794362 | Protein-protein interactions at synapses |
MSigDB gene sets: 104 (showing top):
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, GOBP_POSITIVE_REGULATION_OF_NERVOUS_SYSTEM_DEVELOPMENT, GOBP_CELL_CELL_ADHESION, GOBP_POSITIVE_REGULATION_OF_CELLULAR_COMPONENT_BIOGENESIS, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_REGULATION_OF_SYNAPSE_ASSEMBLY, GOBP_POSITIVE_REGULATION_OF_CELL_JUNCTION_ASSEMBLY, GOBP_ORGANELLE_ASSEMBLY, GOBP_REGULATION_OF_SYNAPSE_STRUCTURE_OR_ACTIVITY, GOBP_CELL_JUNCTION_ASSEMBLY, GOCC_NEURON_PROJECTION
GO Biological Process (4): positive regulation of synapse assembly (GO:0051965), regulation of postsynaptic density assembly (GO:0099151), synaptic membrane adhesion (GO:0099560), regulation of presynapse assembly (GO:1905606)
GO Molecular Function (3): signaling receptor binding (GO:0005102), cell-cell adhesion mediator activity (GO:0098632), protein binding (GO:0005515)
GO Cellular Component (8): plasma membrane (GO:0005886), presynaptic membrane (GO:0042734), cerebellar mossy fiber (GO:0044300), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), membrane (GO:0016020), cell projection (GO:0042995), 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 |
|---|---|
| regulation of synapse assembly | 2 |
| cell-cell adhesion | 2 |
| cellular anatomical structure | 2 |
| synapse assembly | 1 |
| positive regulation of nervous system development | 1 |
| positive regulation of cell junction assembly | 1 |
| 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 |
| presynapse assembly | 1 |
| regulation of presynapse organization | 1 |
| protein binding | 1 |
| cell adhesion mediator activity | 1 |
| binding | 1 |
| membrane | 1 |
| cell periphery | 1 |
| synaptic membrane | 1 |
| presynapse | 1 |
| axon | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| synapse | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
2096 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| LRRC4B | PTPRS | Q13332 | 978 |
| LRRC4B | PTPRF | P10586 | 817 |
| LRRC4B | NTNG2 | Q96CW9 | 765 |
| LRRC4B | NTNG1 | Q9Y2I2 | 751 |
| LRRC4B | IL1RAPL1 | Q9NZN1 | 697 |
| LRRC4B | DLG4 | P78352 | 652 |
| LRRC4B | NLGN1 | Q8N2Q7 | 587 |
| LRRC4B | IL1RAP | Q9NPH3 | 574 |
| LRRC4B | NRXN2 | Q9P2S2 | 557 |
| LRRC4B | NRXN1 | Q9ULB1 | 557 |
| LRRC4B | NLGN2 | Q8NFZ4 | 538 |
| LRRC4B | FN1 | P02751 | 481 |
| LRRC4B | NLGN4X | Q8N0W4 | 456 |
| LRRC4B | ZNF562 | Q6V9R5 | 453 |
| LRRC4B | PTPDC1 | A2A3K4 | 452 |
IntAct
143 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KLRG2 | GLRX3 | psi-mi:“MI:0914”(association) | 0.640 |
| LRRC4B | SNTG1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| KLRG2 | GXYLT2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC4C | DVL2 | psi-mi:“MI:0914”(association) | 0.530 |
| TAFA4 | NRP1 | psi-mi:“MI:0914”(association) | 0.530 |
| LGALS1 | PODXL | psi-mi:“MI:0914”(association) | 0.530 |
| CCT8L2 | ACSL4 | psi-mi:“MI:0914”(association) | 0.530 |
| CD53 | FAM171A2 | psi-mi:“MI:0914”(association) | 0.530 |
| LRRC4B | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | PDZD7 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | WHRN | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | RHPN1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SNTB1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCRIB | LRRC4B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SCRIB | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SNTG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | PTPN3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SNTA1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | SYNJ2BP | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | DLG2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| LRRC4B | ARHGEF12 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| MAGI3 | LRRC4B | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (20): LRRC4B (Two-hybrid), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Proximity Label-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS), LRRC4B (Affinity Capture-MS)
ESM2 similar proteins: A1A5X2, A2RT62, A3KMV1, A4IIK1, B3FL73, F4HX15, P0C192, P0C5J9, P0CC10, Q09299, Q17R01, Q2T9W8, Q32KX5, Q32PG9, Q38SD2, Q3TX51, Q3UHC2, Q3V1N1, Q3ZBA7, Q4G017, Q570C0, Q5BJ29, Q5MJ12, Q65XV2, Q6GLE8, Q6P7W2, Q80TM9, Q86V97, Q86X40, Q8BFZ4, Q8BID8, Q8C4V4, Q8N1E6, Q8N461, Q8TBC3, Q8W104, Q8WVZ9, Q96ME1, Q9EPX5, Q9LW29
Diamond homologs: A1KZ92, A2AJ76, A2ASS6, A4IGL7, A4IIW9, A8WGA3, B0BNK7, B4JEF2, D2HFT7, D3YXG0, D4A1J9, D4ABX8, F1NY98, G5EG78, O01761, O42414, O55005, O88280, O89026, P0C192, P0C5E3, P0C6S8, P0C7J6, P0CC10, P11799, P12960, P14781, P20241, P32004, P82987, P97685, Q03696, Q0E9H9, Q12860, Q149C3, Q15746, Q1RMS4, Q28106, Q2WF71, Q3KNY0
SIGNOR signaling
2 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| PTPRF | “up-regulates activity” | LRRC4B | binding |
| LRRC4B | “up-regulates activity” | DLG4 | binding |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 113 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.
Reactome pathways:
| Pathway | Partners | Fold | FDR |
|---|---|---|---|
| Ras activation upon Ca2+ influx through NMDA receptor | 5 | 39.6× | 8e-06 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 37.8× | 8e-06 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 37.8× | 8e-06 |
| Long-term potentiation | 5 | 33.0× | 1e-05 |
| Assembly and cell surface presentation of NMDA receptors | 9 | 31.7× | 9e-10 |
| Neurexins and neuroligins | 10 | 27.4× | 6e-10 |
| Protein-protein interactions at synapses | 6 | 22.1× | 1e-05 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 9 | 48.4× | 8e-11 |
| receptor clustering | 8 | 46.2× | 1e-09 |
| protein localization to synapse | 6 | 42.6× | 7e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 6 | 27.5× | 8e-06 |
| cell-cell adhesion | 12 | 11.3× | 2e-07 |
| protein-containing complex assembly | 7 | 7.4× | 2e-03 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
75 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 70 |
| Likely benign | 3 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
674 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 19:50519412:TCAC:T | acceptor_gain | 1.0000 |
| 19:50519412:TCACC:T | acceptor_loss | 1.0000 |
| 19:50519413:CAC:C | acceptor_gain | 1.0000 |
| 19:50519413:CACC:C | acceptor_gain | 1.0000 |
| 19:50519413:CACCT:C | acceptor_loss | 1.0000 |
| 19:50519414:AC:A | acceptor_gain | 1.0000 |
| 19:50519414:ACCTG:A | acceptor_loss | 1.0000 |
| 19:50519415:CC:C | acceptor_gain | 1.0000 |
| 19:50519416:C:A | acceptor_loss | 1.0000 |
| 19:50519416:C:CC | acceptor_gain | 1.0000 |
| 19:50519417:T:G | acceptor_loss | 1.0000 |
| 19:50519411:ATCAC:A | acceptor_gain | 0.9900 |
| 19:50548538:ATAC:A | donor_loss | 0.9900 |
| 19:50548539:TA:T | donor_loss | 0.9900 |
| 19:50548869:GGGGG:G | acceptor_gain | 0.9900 |
| 19:50548870:GGGG:G | acceptor_gain | 0.9900 |
| 19:50548871:GGG:G | acceptor_gain | 0.9900 |
| 19:50548871:GGGC:G | acceptor_loss | 0.9900 |
| 19:50548872:GG:G | acceptor_gain | 0.9900 |
| 19:50548874:C:A | acceptor_loss | 0.9900 |
| 19:50548874:C:CC | acceptor_gain | 0.9900 |
| 19:50548880:G:C | acceptor_gain | 0.9900 |
| 19:50548880:G:GC | acceptor_gain | 0.9900 |
| 19:50548540:A:AC | donor_gain | 0.9800 |
| 19:50548541:C:CC | donor_gain | 0.9800 |
| 19:50548876:G:C | acceptor_gain | 0.9800 |
| 19:50550879:CCT:C | donor_gain | 0.9700 |
| 19:50548872:GGC:G | acceptor_gain | 0.9600 |
| 19:50548873:GCT:G | acceptor_gain | 0.9600 |
| 19:50519416:C:T | acceptor_gain | 0.9500 |
AlphaMissense
4600 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 19:50517935:A:G | L593P | 1.000 |
| 19:50517935:A:T | L593H | 1.000 |
| 19:50517938:A:C | M592R | 1.000 |
| 19:50517938:A:T | M592K | 1.000 |
| 19:50517944:G:T | A590E | 1.000 |
| 19:50517947:G:T | A589D | 1.000 |
| 19:50517950:A:C | M588R | 1.000 |
| 19:50517950:A:T | M588K | 1.000 |
| 19:50517956:G:C | T586R | 1.000 |
| 19:50517956:G:T | T586K | 1.000 |
| 19:50517962:G:T | A584D | 1.000 |
| 19:50517965:A:T | V583E | 1.000 |
| 19:50517971:C:T | C581Y | 1.000 |
| 19:50517972:A:G | C581R | 1.000 |
| 19:50517974:C:T | G580D | 1.000 |
| 19:50517975:C:G | G580R | 1.000 |
| 19:50517977:A:T | I579N | 1.000 |
| 19:50517980:A:T | I578N | 1.000 |
| 19:50517983:A:C | I577S | 1.000 |
| 19:50517983:A:G | I577T | 1.000 |
| 19:50518361:A:G | L451P | 1.000 |
| 19:50518361:A:T | L451H | 1.000 |
| 19:50518367:G:T | A449D | 1.000 |
| 19:50518368:C:G | A449P | 1.000 |
| 19:50518374:C:G | A447P | 1.000 |
| 19:50518385:C:A | G443V | 1.000 |
| 19:50518385:C:T | G443D | 1.000 |
| 19:50518386:C:A | G443C | 1.000 |
| 19:50518386:C:G | G443R | 1.000 |
| 19:50518393:G:C | N440K | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000024028 (19:50561654 G>C), RS1000075005 (19:50536620 C>A), RS1000124730 (19:50520485 C>T), RS1000131747 (19:50556485 C>G,T), RS1000181976 (19:50551630 G>A), RS1000220391 (19:50566487 G>A), RS1000318862 (19:50525295 G>A), RS1000404449 (19:50559168 C>T), RS1000409930 (19:50547019 T>C), RS1000425406 (19:50523599 G>T), RS1000540291 (19:50541479 C>G,T), RS1000585413 (19:50556819 G>A,C), RS1000628535 (19:50517519 C>T), RS1000647807 (19:50535469 G>A), RS1000773274 (19:50530004 C>T)
Disease associations
OMIM: gene `` | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
1 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010796_4206 | Electrocardiogram morphology (amplitude at temporal datapoints) | 5.000000e-08 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004327 | electrocardiography |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
13 total (human), top 13 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Benzo(a)pyrene | affects methylation, increases methylation | 2 |
| bisphenol A | decreases methylation | 1 |
| benzo(e)pyrene | increases methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| pentanal | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Sunitinib | decreases expression | 1 |
| Allergens | increases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Estradiol | decreases expression | 1 |
| Methapyrilene | increases methylation | 1 |
| Rotenone | decreases expression | 1 |
| Silicon Dioxide | 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.