DLGAP4
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Also known as DAP4KIAA0964SAPAP4
Summary
DLGAP4 (DLG associated protein 4, HGNC:24476) is a protein-coding gene on chromosome 20q11.23, encoding Disks large-associated protein 4 (Q9Y2H0). May play a role in the molecular organization of synapses and neuronal cell signaling.
The product of this gene is a membrane-associated guanylate kinase found at the postsynaptic density in neuronal cells. It is a signaling molecule that can interact with potassium channels and receptors, as well as other signaling molecules. The protein encoded by this gene can interact with PSD-95 through its guanylate kinase domain and may be involved in clustering PSD-95 in the postsynaptic density region. The encoded protein is one of at least four similar proteins that have been found. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 22839 — RefSeq curated summary.
At a glance
- GWAS associations: 2
- Clinical variants (ClinVar): 145 total
- MANE Select transcript:
NM_001365621
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:24476 |
| Approved symbol | DLGAP4 |
| Name | DLG associated protein 4 |
| Location | 20q11.23 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DAP4, KIAA0964, SAPAP4 |
| Ensembl gene | ENSG00000080845 |
| Ensembl biotype | protein_coding |
| OMIM | 616191 |
| Entrez | 22839 |
Gene structure
Transcript identifiers
Ensembl transcripts: 18 — 11 protein_coding, 6 protein_coding_CDS_not_defined, 1 retained_intron
ENST00000339266, ENST00000340491, ENST00000373907, ENST00000373913, ENST00000475894, ENST00000477195, ENST00000478910, ENST00000479220, ENST00000479951, ENST00000482037, ENST00000482872, ENST00000489701, ENST00000491207, ENST00000495241, ENST00000497862, ENST00000917065, ENST00000917066, ENST00000953306
RefSeq mRNA: 14 — MANE Select: NM_001365621
NM_001042486, NM_001365621, NM_001388257, NM_001388260, NM_001388262, NM_001388265, NM_001388268, NM_001388271, NM_001388274, NM_001388275, NM_001388277, NM_001388278, NM_014902, NM_183006
CCDS: CCDS13274, CCDS13275, CCDS93034
Canonical transcript exons
ENST00000339266 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000520577 | 36436109 | 36436350 |
| ENSE00000661800 | 36446697 | 36446937 |
| ENSE00000661801 | 36442727 | 36442777 |
| ENSE00000661802 | 36439754 | 36439868 |
| ENSE00001146778 | 36367045 | 36367275 |
| ENSE00001146805 | 36431646 | 36432716 |
| ENSE00003471293 | 36499588 | 36499676 |
| ENSE00003476410 | 36526813 | 36528633 |
| ENSE00003488351 | 36500199 | 36500611 |
| ENSE00003641429 | 36525851 | 36526006 |
| ENSE00003664890 | 36524250 | 36524341 |
| ENSE00003684659 | 36496705 | 36497066 |
| ENSE00003734271 | 36306339 | 36306512 |
Expression profiles
Bgee: expression breadth ubiquitous, 270 present calls, max score 98.48.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 59.6489 / max 495.7955, expressed in 1822 samples.
FANTOM5 promoters (18 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 184395 | 26.9486 | 1817 |
| 184397 | 19.8759 | 1743 |
| 184396 | 4.3597 | 1535 |
| 184391 | 1.5158 | 191 |
| 184404 | 1.1021 | 686 |
| 184400 | 0.8474 | 545 |
| 184394 | 0.8063 | 513 |
| 184401 | 0.6952 | 428 |
| 184403 | 0.5622 | 303 |
| 184406 | 0.5152 | 287 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| cortical plate | UBERON:0005343 | 98.48 | gold quality |
| ganglionic eminence | UBERON:0004023 | 97.66 | gold quality |
| ascending aorta | UBERON:0001496 | 97.58 | gold quality |
| thoracic aorta | UBERON:0001515 | 97.55 | gold quality |
| skin of leg | UBERON:0001511 | 97.47 | gold quality |
| aorta | UBERON:0000947 | 97.31 | gold quality |
| right coronary artery | UBERON:0001625 | 97.29 | gold quality |
| descending thoracic aorta | UBERON:0002345 | 97.26 | gold quality |
| popliteal artery | UBERON:0002250 | 97.24 | gold quality |
| tibial artery | UBERON:0007610 | 97.24 | gold quality |
| skin of abdomen | UBERON:0001416 | 97.01 | gold quality |
| lower esophagus muscularis layer | UBERON:0035833 | 96.96 | gold quality |
| lower esophagus | UBERON:0013473 | 96.95 | gold quality |
| gastrocnemius | UBERON:0001388 | 96.91 | gold quality |
| left coronary artery | UBERON:0001626 | 96.73 | gold quality |
| hindlimb stylopod muscle | UBERON:0004252 | 96.60 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 96.48 | gold quality |
| coronary artery | UBERON:0001621 | 96.37 | gold quality |
| right lung | UBERON:0002167 | 96.34 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 96.21 | gold quality |
| body of uterus | UBERON:0009853 | 96.19 | gold quality |
| muscle of leg | UBERON:0001383 | 96.16 | gold quality |
| right frontal lobe | UBERON:0002810 | 96.02 | gold quality |
| stromal cell of endometrium | CL:0002255 | 95.99 | gold quality |
| tibial nerve | UBERON:0001323 | 95.97 | gold quality |
| endocervix | UBERON:0000458 | 95.95 | gold quality |
| apex of heart | UBERON:0002098 | 95.79 | gold quality |
| mucosa of stomach | UBERON:0001199 | 95.78 | gold quality |
| upper lobe of left lung | UBERON:0008952 | 95.66 | gold quality |
| left uterine tube | UBERON:0001303 | 95.49 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | yes | 11.50 |
| E-MTAB-9388 | yes | 6.23 |
| E-GEOD-93593 | no | 271.92 |
| E-CURD-112 | no | 2.63 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
101 targeting DLGAP4, 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-8485 | 100.00 | 77.57 | 4731 |
| HSA-MIR-6867-5P | 100.00 | 82.21 | 3464 |
| HSA-MIR-30A-5P | 100.00 | 76.31 | 3233 |
| HSA-MIR-30B-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30C-5P | 100.00 | 76.29 | 3248 |
| HSA-MIR-30D-5P | 100.00 | 76.32 | 3233 |
| HSA-MIR-30E-5P | 100.00 | 76.32 | 3242 |
| HSA-MIR-3064-3P | 100.00 | 70.09 | 1254 |
| 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-3148 | 99.97 | 75.06 | 6478 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-9983-3P | 99.94 | 71.48 | 3631 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-329-3P | 99.91 | 66.56 | 1234 |
| HSA-MIR-362-3P | 99.91 | 66.38 | 1267 |
| HSA-MIR-4731-5P | 99.89 | 67.23 | 2537 |
| HSA-MIR-129-5P | 99.88 | 70.26 | 3273 |
| HSA-MIR-4492 | 99.87 | 68.25 | 3611 |
| HSA-MIR-3941 | 99.86 | 70.54 | 2735 |
| HSA-MIR-4728-5P | 99.85 | 69.39 | 4718 |
| HSA-MIR-5010-3P | 99.83 | 70.60 | 2357 |
Literature-anchored findings (GeneRIF, showing 7)
- Shows that an homologous rat protein can interact with nArgBP2, a novel neural member of the ponsin/ArgB/vinexin family. (PMID:10521485)
- Significant epigenetic remodelling of the DLGAP4 locus triggered by the t(8;20)(p12;q11.23) translocation and leading to dysregulation of DLGAP4 expression in affected carriers is reported. (PMID:24986922)
- Exosomal circ_DLGAP4 promotes diabetic kidney disease progression by sponging miR-143 and targeting ERBB3/NF-kappaB/MMP-2 axis. (PMID:33230102)
- DLGAP4 acts as an effective prognostic predictor for hepatocellular carcinoma and is closely related to tumour progression. (PMID:36396671)
- CircDLGAP4 induces autophagy and improves endothelial cell dysfunction in atherosclerosis by targeting PTPN4 with miR-134-5p. (PMID:37615249)
- CircDLGAP4 overexpression ameliorates neuronal injury in Parkinson’s disease by binding to EIF4A3 and increasing HMGA2 expression. (PMID:37822284)
- Includes the identification and characterization of an homologous protein in rat. (PMID:9115257)
Cross-species orthologs
4 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | dlgap4b | ENSDARG00000012823 |
| danio_rerio | dlgap4a | ENSDARG00000060849 |
| mus_musculus | Dlgap4 | ENSMUSG00000061689 |
| rattus_norvegicus | Dlgap4 | ENSRNOG00000020225 |
Paralogs (4): DLGAP3 (ENSG00000116544), DLGAP5 (ENSG00000126787), DLGAP1 (ENSG00000170579), DLGAP2 (ENSG00000198010)
Protein
Protein identifiers
Disks large-associated protein 4 — Q9Y2H0 (reviewed: Q9Y2H0)
Alternative names: PSD-95/SAP90-binding protein 4, SAP90/PSD-95-associated protein 4
All UniProt accessions (5): Q9Y2H0, A0A087WWE6, A0A087X246, A0A0B4J2C2, F8WF49
UniProt curated annotations — full annotation on UniProt →
Function. May play a role in the molecular organization of synapses and neuronal cell signaling. Could be an adapter protein linking ion channel to the subsynaptic cytoskeleton. May induce enrichment of PSD-95/SAP90 at the plasma membrane.
Subunit / interactions. Interacts with DLG1 and DLG4/PSD-95.
Subcellular location. Membrane.
Similarity. Belongs to the SAPAP family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9Y2H0-2 | 1 | yes |
| Q9Y2H0-1 | 2 | |
| Q9Y2H0-3 | 3 |
RefSeq proteins (14): NP_001035951, NP_001352550, NP_001375186, NP_001375189, NP_001375191, NP_001375194, NP_001375197, NP_001375200, NP_001375203, NP_001375204, NP_001375206, NP_001375207, NP_055717, NP_892118 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR005026 | SAPAP | Family |
Pfam: PF03359
UniProt features (40 total): modified residue 17, compositionally biased region 9, region of interest 7, splice variant 3, sequence variant 2, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9Y2H0-F1 | 50.01 | 0.10 |
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 (17): 206, 207, 291, 378, 381, 388, 405, 415, 421, 580, 581, 609, 611, 665, 744, 915, 973
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-6794361 | Neurexins and neuroligins |
MSigDB gene sets: 238 (showing top):
FXR_IR1_Q6, SHEPARD_BMYB_MORPHOLINO_UP, GGTGTGT_MIR329, LFA1_Q6, NIKOLSKY_BREAST_CANCER_20Q11_AMPLICON, HATADA_METHYLATED_IN_LUNG_CANCER_DN, SREBP1_02, GOBP_CELL_CELL_SIGNALING, BROWNE_HCMV_INFECTION_48HR_DN, GOBP_CELL_JUNCTION_ORGANIZATION, RICKMAN_TUMOR_DIFFERENTIATED_WELL_VS_POORLY_DN, FREAC3_01, OCT1_03, GGARNTKYCCA_UNKNOWN, WTGAAAT_UNKNOWN
GO Biological Process (4): signaling (GO:0023052), modulation of chemical synaptic transmission (GO:0050804), regulation of synapse maturation (GO:0090128), modification of postsynaptic structure (GO:0099010)
GO Molecular Function (2): molecular adaptor activity (GO:0060090), protein binding (GO:0005515)
GO Cellular Component (7): plasma membrane (GO:0005886), neuromuscular junction (GO:0031594), glutamatergic synapse (GO:0098978), cholinergic synapse (GO:0098981), postsynaptic specialization (GO:0099572), membrane (GO:0016020), synapse (GO:0045202)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Protein-protein interactions at synapses | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 3 |
| binding | 2 |
| regulation of biological process | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| regulation of developmental process | 1 |
| regulation of synapse organization | 1 |
| synapse maturation | 1 |
| modification of synaptic structure | 1 |
| molecular_function | 1 |
| membrane | 1 |
| cell periphery | 1 |
| organelle | 1 |
| postsynapse | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
Protein interactions and networks
STRING
962 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| DLGAP4 | SHANK3 | Q9BYB0 | 744 |
| DLGAP4 | DLG4 | P78352 | 648 |
| DLGAP4 | SHANK2 | Q9UPX8 | 577 |
| DLGAP4 | DLG2 | Q15700 | 577 |
| DLGAP4 | GRIN2A | Q12879 | 549 |
| DLGAP4 | DNAH12 | Q6ZR08 | 545 |
| DLGAP4 | DLG3 | Q92796 | 532 |
| DLGAP4 | DNAH3 | Q8TD57 | 505 |
| DLGAP4 | MPP3 | Q13368 | 480 |
| DLGAP4 | GALNT17 | Q6IS24 | 471 |
| DLGAP4 | SHANK1 | Q9Y566 | 467 |
| DLGAP4 | DLGAP3 | O95886 | 448 |
| DLGAP4 | ATP6V0A2 | Q9Y487 | 446 |
| DLGAP4 | DLGAP2 | Q9P1A6 | 427 |
| DLGAP4 | AK1 | P00568 | 418 |
IntAct
167 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| KCNJ2 | KCNJ18 | psi-mi:“MI:2364”(proximity) | 0.660 |
| DLGAP4 | BIN1 | psi-mi:“MI:0915”(physical association) | 0.630 |
| BIN1 | DLGAP4 | psi-mi:“MI:0915”(physical association) | 0.630 |
| DLGAP4 | DLG4 | psi-mi:“MI:0915”(physical association) | 0.590 |
| DLGAP4 | LIN7A | psi-mi:“MI:0914”(association) | 0.590 |
| DLGAP4 | CASK | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | DLG1 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | DLG3 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | DLG4 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | LIN7A | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | LIN7C | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| MAGI3 | DLGAP4 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| DLGAP4 | MPP7 | psi-mi:“MI:0407”(direct interaction) | 0.590 |
| ZAR1L | BCL2L11 | psi-mi:“MI:0914”(association) | 0.530 |
| NRAS | ESYT2 | psi-mi:“MI:2364”(proximity) | 0.480 |
| DLGAP4 | MAST2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLGAP4 | SHANK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLGAP4 | SNX27 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| SCRIB | DLGAP4 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLGAP4 | PDZK1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLGAP4 | MAST1 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
| DLGAP4 | NHERF2 | psi-mi:“MI:0407”(direct interaction) | 0.440 |
BioGRID (89): BIN1 (Protein-peptide), DLGAP4 (Reconstituted Complex), DLGAP4 (Two-hybrid), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-MS), DLGAP4 (Affinity Capture-RNA), DLGAP4 (Proximity Label-MS), DLGAP4 (Proximity Label-MS)
ESM2 similar proteins: A0A1L8ER70, A1L253, A2AHC3, A5WUN7, B1AZP2, D4AEC2, O14490, P28290, P62024, P97836, P97839, Q148W8, Q14CH0, Q2KI52, Q2M3X8, Q3ZBW7, Q4KM62, Q4R2Y2, Q4R707, Q52KF3, Q5PQL8, Q5R3Z9, Q5RD34, Q5RJX2, Q5VUB5, Q5VZP5, Q5XII9, Q6GLU8, Q6NSV7, Q6P995, Q6PEI3, Q6RFY2, Q7T3E8, Q8BJ42, Q8BYK5, Q8C1B1, Q922B9, Q95X94, Q96BN6, Q96KR7
Diamond homologs: B1AZP2, O14490, O95886, P97836, P97837, P97838, P97839, Q15398, Q6PFD5, Q7K3L1, Q7ZYZ6, Q8BJ42, Q8K4R9, Q9D415, Q9P1A6, Q9Y2H0
SIGNOR signaling
4 interactions.
| A | Effect | B | Mechanism |
|---|---|---|---|
| DLGAP4 | “up-regulates activity” | DLG4 | binding |
| DLGAP4 | “up-regulates activity” | SHANK1 | relocalization |
| DLGAP4 | “up-regulates activity” | SHANK2 | relocalization |
| DLGAP4 | “up-regulates activity” | SHANK3 | relocalization |
Enriched among interaction partners
Reactome pathways and GO biological processes over-represented among this gene’s 117 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 | 7 | 50.0× | 1e-08 |
| Signaling by ERBB2 ECD mutants | 5 | 42.0× | 7e-06 |
| Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants | 6 | 38.9× | 1e-06 |
| Long-term potentiation | 6 | 35.7× | 1e-06 |
| Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants | 5 | 35.7× | 1e-05 |
| Unblocking of NMDA receptors, glutamate binding and activation | 5 | 34.0× | 2e-05 |
| Negative regulation of NMDA receptor-mediated neuronal transmission | 5 | 34.0× | 2e-05 |
| Downstream signal transduction | 7 | 33.3× | 2e-07 |
GO biological processes:
| GO term | Partners | Fold | FDR |
|---|---|---|---|
| establishment or maintenance of epithelial cell apical/basal polarity | 10 | 51.9× | 2e-12 |
| protein localization to synapse | 6 | 41.0× | 1e-06 |
| receptor clustering | 7 | 39.0× | 2e-07 |
| regulation of postsynaptic membrane neurotransmitter receptor levels | 7 | 31.0× | 7e-07 |
| positive regulation of Rac protein signal transduction | 5 | 28.9× | 7e-05 |
| ephrin receptor signaling pathway | 5 | 15.3× | 1e-03 |
| Ras protein signal transduction | 6 | 11.0× | 1e-03 |
| cell-cell adhesion | 11 | 10.0× | 2e-06 |
Disease & clinical
Clinical variants and AI predictions
ClinVar
145 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 117 |
| Likely benign | 11 |
| Benign | 3 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
3807 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 20:36432714:CAGGT:C | donor_loss | 1.0000 |
| 20:36432715:AGGT:A | donor_loss | 1.0000 |
| 20:36432716:GG:G | donor_loss | 1.0000 |
| 20:36432718:T:A | donor_loss | 1.0000 |
| 20:36436349:AG:A | donor_loss | 1.0000 |
| 20:36436350:GG:G | donor_loss | 1.0000 |
| 20:36436351:G:GA | donor_loss | 1.0000 |
| 20:36436352:T:G | donor_loss | 1.0000 |
| 20:36439742:A:AG | acceptor_gain | 1.0000 |
| 20:36439750:CCA:C | acceptor_loss | 1.0000 |
| 20:36439751:CAG:C | acceptor_loss | 1.0000 |
| 20:36439752:A:AC | acceptor_loss | 1.0000 |
| 20:36439753:G:GT | acceptor_gain | 1.0000 |
| 20:36439753:GGA:G | acceptor_gain | 1.0000 |
| 20:36439864:GCCAG:G | donor_gain | 1.0000 |
| 20:36439866:CAGG:C | donor_loss | 1.0000 |
| 20:36439868:GGTGA:G | donor_loss | 1.0000 |
| 20:36446936:GA:G | donor_gain | 1.0000 |
| 20:36496700:TGCA:T | acceptor_loss | 1.0000 |
| 20:36496701:GCAG:G | acceptor_loss | 1.0000 |
| 20:36496702:CA:C | acceptor_loss | 1.0000 |
| 20:36497067:G:GG | donor_gain | 1.0000 |
| 20:36500197:A:AG | acceptor_gain | 1.0000 |
| 20:36500198:G:GG | acceptor_gain | 1.0000 |
| 20:36500608:GAAG:G | donor_gain | 1.0000 |
| 20:36500610:AGG:A | donor_loss | 1.0000 |
| 20:36500612:GTGG:G | donor_loss | 1.0000 |
| 20:36524240:T:A | acceptor_gain | 1.0000 |
| 20:36524248:A:AG | acceptor_gain | 1.0000 |
| 20:36524249:G:GG | acceptor_gain | 1.0000 |
AlphaMissense
6493 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 20:36500510:G:A | G804D | 1.000 |
| 20:36500518:T:C | F807L | 1.000 |
| 20:36500519:T:C | F807S | 1.000 |
| 20:36500520:C:A | F807L | 1.000 |
| 20:36500520:C:G | F807L | 1.000 |
| 20:36500528:T:C | L810P | 1.000 |
| 20:36500531:T:C | L811P | 1.000 |
| 20:36500560:T:A | W821R | 1.000 |
| 20:36500560:T:C | W821R | 1.000 |
| 20:36524283:C:A | A849D | 1.000 |
| 20:36524292:T:C | L852P | 1.000 |
| 20:36524316:T:C | F860S | 1.000 |
| 20:36524328:G:A | C864Y | 1.000 |
| 20:36524329:T:G | C864W | 1.000 |
| 20:36525888:T:C | L881P | 1.000 |
| 20:36525899:T:A | W885R | 1.000 |
| 20:36525899:T:C | W885R | 1.000 |
| 20:36525901:G:C | W885C | 1.000 |
| 20:36525901:G:T | W885C | 1.000 |
| 20:36525906:T:C | L887P | 1.000 |
| 20:36525909:T:C | L888P | 1.000 |
| 20:36525915:T:C | L890P | 1.000 |
| 20:36525941:T:C | F899L | 1.000 |
| 20:36525942:T:C | F899S | 1.000 |
| 20:36525943:C:A | F899L | 1.000 |
| 20:36525943:C:G | F899L | 1.000 |
| 20:36525951:T:C | L902P | 1.000 |
| 20:36525974:T:A | W910R | 1.000 |
| 20:36525974:T:C | W910R | 1.000 |
| 20:36525976:G:C | W910C | 1.000 |
dbSNP variants (sampled 300 via entrez): RS1000007088 (20:36527805 C>A,G), RS1000029234 (20:36469772 T>A,C,G), RS1000033870 (20:36517010 C>T), RS1000043422 (20:36391209 G>A,T), RS1000087985 (20:36407434 G>A,T), RS1000095205 (20:36479780 G>A), RS1000110905 (20:36321178 G>T), RS1000115364 (20:36523134 G>A), RS1000125538 (20:36458042 G>A,C), RS1000148041 (20:36435056 C>G), RS1000224257 (20:36324559 C>T), RS1000237280 (20:36388387 C>T), RS1000245325 (20:36420965 ACT>A), RS1000246098 (20:36528145 T>C), RS1000255164 (20:36417569 C>T)
Disease associations
OMIM: gene MIM:616191 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
2 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST010152_5 | Neuroblastoma or malignant cutaneous melanoma | 6.000000e-06 |
| GCST010204_77 | Low density lipoprotein cholesterol levels | 4.000000e-21 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
49 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | increases expression, decreases expression, increases abundance | 3 |
| bisphenol A | affects expression, decreases expression | 2 |
| Acetaminophen | increases expression | 2 |
| Arsenic | affects methylation, decreases expression, increases abundance | 2 |
| Estradiol | affects cotreatment, increases expression, decreases expression | 2 |
| Cyclosporine | increases expression | 2 |
| FR900359 | affects phosphorylation | 1 |
| bisphenol F | decreases expression, affects cotreatment | 1 |
| dicrotophos | increases expression | 1 |
| methylmercuric chloride | increases expression | 1 |
| triphenyl phosphate | affects expression | 1 |
| kojic acid | increases expression | 1 |
| cobaltous chloride | increases expression | 1 |
| benzo(e)pyrene | affects methylation | 1 |
| aflatoxin B2 | increases methylation | 1 |
| beta-methylcholine | affects expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| 2,2’,4,4’-tetrabromodiphenyl ether | increases expression | 1 |
| bisphenol S | affects cotreatment, decreases expression | 1 |
| (+)-JQ1 compound | increases expression | 1 |
| Resveratrol | affects cotreatment, decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Sunitinib | increases expression | 1 |
| Zoledronic Acid | decreases expression | 1 |
| Arsenic Trioxide | decreases expression | 1 |
| Vorinostat | decreases expression | 1 |
| Arbutin | increases expression | 1 |
| Atrazine | increases expression | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | decreases expression, increases abundance | 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): neuroblastoma