PLPP4
gene geneOn this page
Also known as DPPL2
Summary
PLPP4 (phospholipid phosphatase 4, HGNC:23531) is a protein-coding gene on chromosome 10q26.12, encoding Phospholipid phosphatase 4 (Q5VZY2). Magnesium-independent phospholipid phosphatase with broad substrate specificity.
Enables diacylglycerol diphosphate phosphatase activity; identical protein binding activity; and phosphatidate phosphatase activity. Involved in phospholipid dephosphorylation and regulation of calcium ion import. Predicted to be located in plasma membrane. Predicted to be active in membrane. Biomarker of breast cancer.
Source: NCBI Gene 196051 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 33 total
- MANE Select transcript:
NM_001030059
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23531 |
| Approved symbol | PLPP4 |
| Name | phospholipid phosphatase 4 |
| Location | 10q26.12 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | DPPL2 |
| Ensembl gene | ENSG00000203805 |
| Ensembl biotype | protein_coding |
| Entrez | 196051 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding
ENST00000369073, ENST00000398250, ENST00000496437
RefSeq mRNA: 3 — MANE Select: NM_001030059
NM_001030059, NM_001318166, NM_001318167
CCDS: CCDS41573
Canonical transcript exons
ENST00000398250 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001448750 | 120575131 | 120575301 |
| ENSE00001448751 | 120520971 | 120521095 |
| ENSE00001448752 | 120518833 | 120518896 |
| ENSE00001448753 | 120513911 | 120514001 |
| ENSE00001448754 | 120503818 | 120503926 |
| ENSE00001749139 | 120457227 | 120457361 |
| ENSE00003500636 | 120589303 | 120592065 |
Expression profiles
Bgee: expression breadth ubiquitous, 175 present calls, max score 88.15.
FANTOM5 (CAGE): breadth broad, TPM avg 11.6473 / max 282.0314, expressed in 871 samples.
FANTOM5 promoters (7 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107370 | 10.5487 | 851 |
| 107366 | 0.4046 | 154 |
| 107368 | 0.3005 | 91 |
| 107369 | 0.1579 | 72 |
| 107365 | 0.1138 | 56 |
| 107367 | 0.0803 | 54 |
| 107364 | 0.0415 | 11 |
Top tissues by expression
251 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| oocyte | CL:0000023 | 88.15 | gold quality |
| secondary oocyte | CL:0000655 | 87.63 | gold quality |
| hypothalamus | UBERON:0001898 | 86.28 | gold quality |
| Ammon’s horn | UBERON:0001954 | 83.58 | gold quality |
| substantia nigra | UBERON:0002038 | 83.39 | gold quality |
| C1 segment of cervical spinal cord | UBERON:0006469 | 83.38 | gold quality |
| amygdala | UBERON:0001876 | 83.04 | gold quality |
| midbrain | UBERON:0001891 | 82.53 | gold quality |
| spinal cord | UBERON:0002240 | 82.19 | gold quality |
| pons | UBERON:0000988 | 81.28 | gold quality |
| stromal cell of endometrium | CL:0002255 | 79.52 | gold quality |
| putamen | UBERON:0001874 | 79.04 | gold quality |
| anterior cingulate cortex | UBERON:0009835 | 78.73 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 78.50 | gold quality |
| cerebellar cortex | UBERON:0002129 | 78.45 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 78.42 | gold quality |
| caudate nucleus | UBERON:0001873 | 78.31 | gold quality |
| cerebellum | UBERON:0002037 | 77.80 | gold quality |
| kidney epithelium | UBERON:0004819 | 76.84 | silver quality |
| temporal lobe | UBERON:0001871 | 76.78 | gold quality |
| nucleus accumbens | UBERON:0001882 | 75.67 | gold quality |
| prefrontal cortex | UBERON:0000451 | 75.48 | gold quality |
| adult mammalian kidney | UBERON:0000082 | 75.30 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 75.14 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 74.86 | gold quality |
| right testis | UBERON:0004534 | 74.71 | gold quality |
| right frontal lobe | UBERON:0002810 | 74.29 | gold quality |
| corpus callosum | UBERON:0002336 | 74.21 | gold quality |
| cerebral cortex | UBERON:0000956 | 74.14 | gold quality |
| left testis | UBERON:0004533 | 74.12 | gold quality |
Single-cell (SCXA)
Detected in 3 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-HCAD-25 | yes | 15.18 |
| E-GEOD-93593 | yes | 4.97 |
| E-ANND-3 | no | 2.28 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
18 targeting PLPP4, 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-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-570-3P | 99.96 | 72.41 | 4910 |
| HSA-MIR-205-3P | 99.92 | 69.92 | 3165 |
| HSA-MIR-4307 | 99.82 | 70.45 | 3374 |
| HSA-MIR-4502 | 99.65 | 66.99 | 1021 |
| HSA-MIR-298 | 99.63 | 67.56 | 1916 |
| HSA-MIR-3942-3P | 99.57 | 69.03 | 2854 |
| HSA-MIR-4276 | 99.56 | 67.66 | 2514 |
| HSA-MIR-3120-3P | 99.54 | 70.28 | 2669 |
| HSA-MIR-4687-3P | 99.48 | 66.41 | 968 |
| HSA-MIR-122B-3P | 99.21 | 68.90 | 1333 |
| HSA-MIR-21-3P | 99.21 | 68.95 | 1312 |
| HSA-MIR-6799-5P | 99.14 | 65.72 | 2093 |
| HSA-MIR-3152-3P | 99.10 | 66.35 | 678 |
| HSA-MIR-6895-3P | 98.79 | 65.69 | 996 |
| HSA-MIR-561-5P | 98.25 | 68.13 | 1365 |
| HSA-MIR-411-5P | 97.11 | 66.82 | 601 |
| HSA-MIR-11401 | 90.58 | 63.72 | 128 |
Literature-anchored findings (GeneRIF, showing 3)
- DPPL1 and DPPL2 represent a novel type of mammalian phosphatidate phosphatase. (PMID:17590538)
- Studied the clinical significance and biological roles of PLPP4 in lung carcinoma. (PMID:28851360)
- PPAPDC1A fusions and in-frame fusions containing a RhoGAP domain clearly define the aggressive subset (7.5%) of diffuse gastric cancer. (PMID:30361512)
Cross-species orthologs
12 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plpp4 | ENSDARG00000098862 |
| mus_musculus | Plpp4 | ENSMUSG00000070366 |
| rattus_norvegicus | Plpp4 | ENSRNOG00000020424 |
| drosophila_melanogaster | wun | FBGN0016078 |
| drosophila_melanogaster | laza | FBGN0037163 |
| drosophila_melanogaster | CG11438 | FBGN0037164 |
| drosophila_melanogaster | CG11437 | FBGN0037165 |
| drosophila_melanogaster | CG11426 | FBGN0037166 |
| drosophila_melanogaster | CG11425 | FBGN0037167 |
| drosophila_melanogaster | CG12746 | FBGN0037341 |
| drosophila_melanogaster | wun2 | FBGN0041087 |
| caenorhabditis_elegans | WBGENE00018756 |
Paralogs (9): PLPP1 (ENSG00000067113), PLPPR2 (ENSG00000105520), PLPPR5 (ENSG00000117598), PLPPR4 (ENSG00000117600), PLPPR3 (ENSG00000129951), PLPP2 (ENSG00000141934), PLPP5 (ENSG00000147535), PLPPR1 (ENSG00000148123), PLPP3 (ENSG00000162407)
Protein
Protein identifiers
Phospholipid phosphatase 4 — Q5VZY2 (reviewed: Q5VZY2)
Alternative names: Phosphatidic acid phosphatase type 2 domain-containing protein 1A
All UniProt accessions (1): Q5VZY2
UniProt curated annotations — full annotation on UniProt →
Function. Magnesium-independent phospholipid phosphatase with broad substrate specificity. Preferentially catalyzes the conversion of diacylglycerol pyrophosphate into phosphatidate but can also act on phosphatidate and lysophosphatidate. Phospholipid phosphatases are involved in both the synthesis of lipids and the degradation or generation of lipid-signaling molecules like diacylglycerol.
Subcellular location. Membrane.
Tissue specificity. Expressed mainly to the brain, kidney and testis, and to a lesser extent the bone marrow, thymus, prostate, liver and uterus.
Activity regulation. Magnesium-independent phospholipid phosphatase. Inhibited by N-ethylmaleimide.
Pathway. Lipid metabolism; phospholipid metabolism.
Similarity. Belongs to the PA-phosphatase related phosphoesterase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q5VZY2-1 | 1 | yes |
| Q5VZY2-2 | 2 | |
| Q5VZY2-3 | 3 | |
| Q5VZY2-4 | 4 |
RefSeq proteins (3): NP_001025230, NP_001305095, NP_001305096 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000326 | PAP2/HPO | Domain |
| IPR036938 | PAP2/HPO_sf | Homologous_superfamily |
| IPR043216 | PAP-like | Family |
Pfam: PF01569
Enzyme classification (BRENDA):
- EC 3.1.3.4 — phosphatidate phosphatase (BRENDA: 31 organisms, 190 substrates, 196 inhibitors, 44 Km, 3 kcat entries)
- EC 3.1.3.81 — diacylglycerol diphosphate phosphatase (BRENDA: 0 organisms, 0 substrates, 0 inhibitors, 0 Km, 0 kcat entries)
Substrate kinetics (BRENDA)
10 substrates with measured Km, best-characterized 10. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| PHOSPHATIDIC ACID | 0.0054–1.2 | 17 |
| LYSOPHOSPHATIDATE | 0.046–0.179 | 3 |
| PHOSPHATIDATE | 0.284–0.369 | 3 |
| SPHINGOSINE-1-PHOSPHATE | 0.028–0.26 | 3 |
| CERAMIDE-1-PHOSPHATE | 0.022–0.052 | 2 |
| DIACYLGLYCEROL DIPHOSPHATE | 0.041–0.104 | 2 |
| LYSOPHOSPHATIDIC ACID | 0.295–0.58 | 2 |
| 1,2-DIACYL-SN-GLYCEROL-3-PHOSPHATE | 0.5954 | 1 |
| 2-(4,4-DIFLUORO-5,7-DIMETHYL-4-BORA-3A,4A-DIAZA- | 0.024 | 1 |
| DIOCTANOYL PHOSPHATIDIC ACID | 1.4 | 1 |
Catalyzed reactions (Rhea), 5 shown:
- a 1,2-diacyl-sn-glycero-3-phosphate + H2O = a 1,2-diacyl-sn-glycerol + phosphate (RHEA:27429)
- a 1,2-diacyl-sn-glycerol 3-diphosphate + H2O = a 1,2-diacyl-sn-glycero-3-phosphate + phosphate + H(+) (RHEA:27449)
- 1-(9Z-octadecenoyl)-sn-glycero-3-phosphate + H2O = 1-(9Z-octadecenoyl)-sn-glycerol + phosphate (RHEA:39835)
- 1,2-dioctanoyl-sn-glycero-3-diphosphate + H2O = 1,2-dioctanoyl-sn-glycero-3-phosphate + phosphate + H(+) (RHEA:42856)
- 1,2-dioctanoyl-sn-glycero-3-phosphate + H2O = 1,2-dioctanoyl-sn-glycerol + phosphate (RHEA:42860)
UniProt features (21 total): transmembrane region 6, region of interest 4, splice variant 4, mutagenesis site 3, active site 2, chain 1, site 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q5VZY2-F1 | 91.44 | 0.86 |
Functional residue map
Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.
Catalytic / active sites (3): 146 (proton donors); 202 (nucleophile); 206 (stabilizes the active site histidine for nucleophilic attack)
Mutagenesis-validated functional residues (3):
| Position | Phenotype |
|---|---|
| 109 | loss of phosphatase activity; when associated with a-146 and with a-202. |
| 146 | loss of phosphatase activity; when associated with a-109 and with a-202. |
| 202 | loss of phosphatase activity; when associated with a-109 and with a-146. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-2029485 | Role of phospholipids in phagocytosis |
MSigDB gene sets: 85 (showing top):
GSE45365_CD8A_DC_VS_CD11B_DC_IFNAR_KO_MCMV_INFECTION_DN, GOBP_LIPID_MODIFICATION, GOBP_EMBRYO_DEVELOPMENT_ENDING_IN_BIRTH_OR_EGG_HATCHING, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, REACTOME_INNATE_IMMUNE_SYSTEM, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_VESICLE_MEDIATED_TRANSPORT, GOBP_MONOATOMIC_CATION_TRANSPORT, GOBP_REGULATION_OF_IMMUNE_RESPONSE, GOBP_IN_UTERO_EMBRYONIC_DEVELOPMENT, GOBP_CALCIUM_ION_IMPORT, GOBP_REGULATION_OF_CALCIUM_ION_IMPORT, GOBP_FC_RECEPTOR_SIGNALING_PATHWAY, GOBP_BLASTOCYST_DEVELOPMENT
GO Biological Process (6): blastocyst hatching (GO:0001835), phospholipid metabolic process (GO:0006644), Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096), phospholipid dephosphorylation (GO:0046839), regulation of calcium ion import (GO:0090279), lipid metabolic process (GO:0006629)
GO Molecular Function (5): diacylglycerol diphosphate phosphatase activity (GO:0000810), phosphatidate phosphatase activity (GO:0008195), identical protein binding (GO:0042802), protein binding (GO:0005515), hydrolase activity (GO:0016787)
GO Cellular Component (2): plasma membrane (GO:0005886), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Fcgamma receptor (FCGR) dependent phagocytosis | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| blastocyst development | 1 |
| hatching | 1 |
| lipid metabolic process | 1 |
| organophosphate metabolic process | 1 |
| Fc receptor mediated stimulatory signaling pathway | 1 |
| phagocytosis | 1 |
| Fc-gamma receptor signaling pathway | 1 |
| dephosphorylation | 1 |
| lipid modification | 1 |
| regulation of calcium ion transport | 1 |
| calcium ion import | 1 |
| primary metabolic process | 1 |
| pyrophosphatase activity | 1 |
| lipid phosphatase activity | 1 |
| protein binding | 1 |
| binding | 1 |
| catalytic activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| cellular anatomical structure | 1 |
Protein interactions and networks
STRING
1032 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLPP4 | PLPP7 | Q8NBV4 | 541 |
| PLPP4 | PLPP6 | Q8IY26 | 512 |
| PLPP4 | DGAT1 | O75907 | 467 |
| PLPP4 | LPIN1 | Q14693 | 464 |
| PLPP4 | PLPP2 | O43688 | 461 |
| PLPP4 | TACC2 | O95359 | 450 |
| PLPP4 | PLPP1 | O14494 | 431 |
| PLPP4 | DGAT2 | Q96PD7 | 430 |
| PLPP4 | PNPLA2 | Q96AD5 | 420 |
| PLPP4 | DOLPP1 | Q86YN1 | 408 |
| PLPP4 | PNPLA3 | Q9NST1 | 399 |
| PLPP4 | AHCYL1 | O43865 | 376 |
| PLPP4 | TACC1 | O75410 | 375 |
| PLPP4 | CCDC24 | Q8N4L8 | 364 |
| PLPP4 | AFF3 | P51826 | 361 |
IntAct
107 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PLPP4 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.670 |
| PLPP4 | SAR1A | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | PAGE1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | CPLX4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| SGPL1 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | ERGIC3 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX2 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| STX1A | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| BIK | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | ANKRD46 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | LRRC59 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FRMD3 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| SLC35A1 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | CREB3L1 | psi-mi:“MI:0915”(physical association) | 0.560 |
| CD74 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | BCL2L13 | psi-mi:“MI:0915”(physical association) | 0.560 |
| ARL13B | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | TMEM139 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 | |
| GJB5 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| GJA1 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| PAGE1 | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| FAM209A | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
| UPK1B | PLPP4 | psi-mi:“MI:0915”(physical association) | 0.560 |
BioGRID (52): PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid), PPAPDC1A (Two-hybrid)
ESM2 similar proteins: A6H7A0, A6NI61, A6QQ59, B0BMW8, B0CM95, B0KWE9, B1MTH4, B2KI79, F1LTR1, O14494, O43688, O88956, P0CK96, P57791, P60588, P86229, Q0VBU9, Q13888, Q1JQE6, Q2HJ61, Q3ZCD7, Q4L208, Q4R8V4, Q5R589, Q5R8Y5, Q5RL79, Q5VZY2, Q5ZJ75, Q5ZJH8, Q64232, Q6PIU2, Q86YN1, Q8C811, Q8K593, Q8N6L1, Q8NFT2, Q8R4D1, Q8VDI9, Q91ZH7, Q9CY27
Diamond homologs: O08564, O14494, O14495, O43688, O88956, P60588, P97544, Q04396, Q0VBU9, Q0WNG6, Q10022, Q2HJ61, Q3SZE3, Q3UMZ3, Q5VZY2, Q61469, Q6GQ62, Q6IQH6, Q86AF0, Q8K593, Q8LFD1, Q8NEB5, Q99JY8, Q9DAX2, Q9V576, Q9XI60, B0CM95, B0KWE9, B1MTH4, Q86YN1, Q9ZU49, B2KI79, Q05521, Q54PR7, Q9UUA6, Q6GM05, Q8BJ52, Q8MXL9, Q6WAY2, Q8TBJ4
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
33 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 29 |
| Likely benign | 1 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
2125 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:120457360:GT:G | donor_gain | 1.0000 |
| 10:120457362:G:GG | donor_gain | 1.0000 |
| 10:120503810:T:G | acceptor_gain | 1.0000 |
| 10:120503816:A:AG | acceptor_gain | 1.0000 |
| 10:120503817:G:GA | acceptor_gain | 1.0000 |
| 10:120503817:GT:G | acceptor_gain | 1.0000 |
| 10:120503923:GTTT:G | donor_gain | 1.0000 |
| 10:120503924:TTT:T | donor_gain | 1.0000 |
| 10:120503924:TTTG:T | donor_loss | 1.0000 |
| 10:120503925:TT:T | donor_gain | 1.0000 |
| 10:120503926:TGTAA:T | donor_loss | 1.0000 |
| 10:120503927:G:GG | donor_gain | 1.0000 |
| 10:120503928:TAA:T | donor_loss | 1.0000 |
| 10:120503929:AAGTA:A | donor_loss | 1.0000 |
| 10:120503930:AGTAC:A | donor_loss | 1.0000 |
| 10:120513989:G:GT | donor_gain | 1.0000 |
| 10:120521096:G:GG | donor_gain | 1.0000 |
| 10:120575125:TGGCA:T | acceptor_loss | 1.0000 |
| 10:120575126:GGCA:G | acceptor_loss | 1.0000 |
| 10:120575127:GCA:G | acceptor_loss | 1.0000 |
| 10:120575128:CAG:C | acceptor_loss | 1.0000 |
| 10:120575129:A:AG | acceptor_gain | 1.0000 |
| 10:120575129:AGTT:A | acceptor_gain | 1.0000 |
| 10:120575130:G:GG | acceptor_gain | 1.0000 |
| 10:120575130:GTT:G | acceptor_gain | 1.0000 |
| 10:120575130:GTTG:G | acceptor_gain | 1.0000 |
| 10:120575297:GCAAG:G | donor_gain | 1.0000 |
| 10:120575300:AGGT:A | donor_loss | 1.0000 |
| 10:120575302:G:GG | donor_gain | 1.0000 |
| 10:120575302:GTGA:G | donor_loss | 1.0000 |
AlphaMissense
1765 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 10:120520999:T:C | F117L | 0.999 |
| 10:120521001:T:A | F117L | 0.999 |
| 10:120521001:T:G | F117L | 0.999 |
| 10:120518892:G:A | G106R | 0.998 |
| 10:120518892:G:C | G106R | 0.998 |
| 10:120518893:G:A | G106E | 0.998 |
| 10:120520996:T:A | C116S | 0.998 |
| 10:120520996:T:C | C116R | 0.998 |
| 10:120520997:G:C | C116S | 0.998 |
| 10:120521062:G:C | G138R | 0.998 |
| 10:120521066:G:C | R139P | 0.998 |
| 10:120521074:T:C | F142L | 0.998 |
| 10:120521076:C:A | F142L | 0.998 |
| 10:120521076:C:G | F142L | 0.998 |
| 10:120589326:G:C | G214R | 0.998 |
| 10:120589327:G:A | G214D | 0.998 |
| 10:120503840:T:C | F27L | 0.997 |
| 10:120503842:C:A | F27L | 0.997 |
| 10:120503842:C:G | F27L | 0.997 |
| 10:120513930:C:A | P62H | 0.997 |
| 10:120513930:C:G | P62R | 0.997 |
| 10:120518860:G:A | G95E | 0.997 |
| 10:120518893:G:T | G106V | 0.997 |
| 10:120520979:C:A | P110H | 0.997 |
| 10:120520984:T:C | F112L | 0.997 |
| 10:120520986:C:A | F112L | 0.997 |
| 10:120520986:C:G | F112L | 0.997 |
| 10:120520994:G:C | R115P | 0.997 |
| 10:120520998:C:G | C116W | 0.997 |
| 10:120521032:T:A | C128S | 0.997 |
dbSNP variants (sampled 300 via entrez): RS1000017278 (10:120540140 CA>C), RS1000034138 (10:120476224 G>A,T), RS1000034605 (10:120503353 C>G), RS1000046609 (10:120545922 A>G), RS1000070581 (10:120533481 C>G), RS1000089551 (10:120487543 T>A,C), RS1000128427 (10:120579885 A>G), RS1000136174 (10:120496555 T>C,G), RS1000141919 (10:120534672 A>G), RS1000170474 (10:120569413 G>A), RS1000182359 (10:120557343 G>A), RS1000225214 (10:120478848 A>C), RS1000279045 (10:120575221 T>C), RS1000301313 (10:120521040 T>C), RS1000301898 (10:120562893 A>G)
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
5 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001915_25 | Alzheimer’s disease (cognitive decline) | 6.000000e-07 |
| GCST003475_3 | Beard thickness | 1.000000e-06 |
| GCST012292_7 | Schizophrenia, bipolar disorder or recurrent major depressive disorder x sex interaction | 6.000000e-06 |
| GCST012298_6 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 6.000000e-07 |
| GCST012301_4 | Schizophrenia, bipolar disorder or major depressive disorder x sex interaction | 5.000000e-06 |
EFO canonical traits (2, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0004952 | disease recurrence |
| EFO:0008343 | sex interaction measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
34 total (human), top 30 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | affects cotreatment, decreases expression, affects expression, increases methylation | 6 |
| entinostat | decreases expression, affects cotreatment | 2 |
| Nickel | decreases expression | 2 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | affects methylation | 1 |
| trichostatin A | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| potassium chromate(VI) | decreases expression | 1 |
| nickel sulfate | decreases expression | 1 |
| CGP 52608 | affects binding, increases reaction | 1 |
| monomethylarsonous acid | decreases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, decreases expression | 1 |
| dimethylarsinous acid | decreases expression | 1 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| bisphenol S | increases expression | 1 |
| (+)-JQ1 compound | decreases expression | 1 |
| Temozolomide | decreases expression | 1 |
| Microplastics | increases abundance, increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cadmium | increases expression | 1 |
| Calcitriol | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Methyl Methanesulfonate | increases expression | 1 |
| Polyethylene Terephthalates | increases expression, increases abundance | 1 |
| Testosterone | decreases expression | 1 |
| Tretinoin | increases expression | 1 |
| Triclosan | increases 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.