PLPPR4
geneOn this page
Also known as PRG-1LPPR4KIAA0455PHP1
Summary
PLPPR4 (phospholipid phosphatase related 4, HGNC:23496) is a protein-coding gene on chromosome 1p21.3-p21.2, encoding Phospholipid phosphatase-related protein type 4 (Q7Z2D5). Postsynaptic density membrane protein that indirectly regulates glutamatergic synaptic transmission through lysophosphatidic acid (LPA)-mediated signaling pathways.
The protein encoded by this gene belongs to the lipid phosphate phosphatase (LPP) family. LPPs catalyze the dephosphorylation of a number of bioactive lipid mediators that regulate a variety of cell functions. This protein is specifically expressed in neurons. It is located in the membranes of outgrowing axons and has been shown to be important for axonal outgrowth during development and regenerative sprouting. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Source: NCBI Gene 9890 — RefSeq curated summary.
At a glance
- GWAS associations: 5
- Clinical variants (ClinVar): 47 total
- MANE Select transcript:
NM_014839
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:23496 |
| Approved symbol | PLPPR4 |
| Name | phospholipid phosphatase related 4 |
| Location | 1p21.3-p21.2 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PRG-1, LPPR4, KIAA0455, PHP1 |
| Ensembl gene | ENSG00000117600 |
| Ensembl biotype | protein_coding |
| OMIM | 607813 |
| Entrez | 9890 |
Gene structure
Transcript identifiers
Ensembl transcripts: 5 — 4 protein_coding, 1 retained_intron
ENST00000370184, ENST00000370185, ENST00000457765, ENST00000917620, ENST00000917621
RefSeq mRNA: 2 — MANE Select: NM_014839
NM_001166252, NM_014839
CCDS: CCDS53347, CCDS757
Canonical transcript exons
ENST00000370185 — 7 exons
| Exon | Start | End |
|---|---|---|
| ENSE00000777606 | 99301724 | 99301897 |
| ENSE00000777609 | 99299035 | 99299230 |
| ENSE00000831248 | 99300909 | 99300966 |
| ENSE00001003391 | 99287965 | 99288150 |
| ENSE00001067078 | 99296738 | 99296867 |
| ENSE00001452020 | 99305685 | 99309584 |
| ENSE00001877192 | 99264492 | 99264671 |
Expression profiles
Bgee: expression breadth ubiquitous, 213 present calls, max score 97.63.
FANTOM5 (CAGE): breadth broad, TPM avg 5.4219 / max 385.5303, expressed in 405 samples.
FANTOM5 promoters (6 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 4166 | 2.7556 | 276 |
| 4165 | 1.9345 | 259 |
| 4163 | 0.6099 | 104 |
| 4167 | 0.0699 | 48 |
| 4169 | 0.0351 | 17 |
| 4168 | 0.0170 | 10 |
Top tissues by expression
286 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| CA1 field of hippocampus | UBERON:0003881 | 97.63 | gold quality |
| orbitofrontal cortex | UBERON:0004167 | 96.60 | gold quality |
| entorhinal cortex | UBERON:0002728 | 95.93 | gold quality |
| Brodmann (1909) area 23 | UBERON:0013554 | 95.60 | gold quality |
| cortical plate | UBERON:0005343 | 94.64 | gold quality |
| superior frontal gyrus | UBERON:0002661 | 92.97 | gold quality |
| endothelial cell | CL:0000115 | 92.81 | gold quality |
| Brodmann (1909) area 46 | UBERON:0006483 | 92.67 | gold quality |
| middle temporal gyrus | UBERON:0002771 | 91.88 | gold quality |
| prefrontal cortex | UBERON:0000451 | 91.69 | gold quality |
| frontal pole | UBERON:0002795 | 90.55 | gold quality |
| parietal lobe | UBERON:0001872 | 90.51 | gold quality |
| postcentral gyrus | UBERON:0002581 | 90.51 | gold quality |
| Ammon’s horn | UBERON:0001954 | 90.43 | gold quality |
| temporal lobe | UBERON:0001871 | 90.16 | gold quality |
| frontal cortex | UBERON:0001870 | 89.85 | gold quality |
| primary visual cortex | UBERON:0002436 | 89.80 | gold quality |
| cerebral cortex | UBERON:0000956 | 89.78 | gold quality |
| occipital lobe | UBERON:0002021 | 89.47 | gold quality |
| neocortex | UBERON:0001950 | 89.23 | gold quality |
| dorsolateral prefrontal cortex | UBERON:0009834 | 89.11 | gold quality |
| nucleus accumbens | UBERON:0001882 | 88.94 | gold quality |
| Brodmann (1909) area 9 | UBERON:0013540 | 88.82 | gold quality |
| Brodmann (1909) area 10 | UBERON:0013541 | 88.48 | gold quality |
| telencephalon | UBERON:0001893 | 88.47 | gold quality |
| lateral nuclear group of thalamus | UBERON:0002736 | 87.65 | gold quality |
| forebrain | UBERON:0001890 | 87.61 | gold quality |
| amygdala | UBERON:0001876 | 86.71 | gold quality |
| cingulate cortex | UBERON:0003027 | 86.34 | gold quality |
| ventricular zone | UBERON:0003053 | 86.34 | gold quality |
Single-cell (SCXA)
Detected in 1 experiment(s), a significant marker in 0.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-ANND-3 | no | 3.20 |
Regulation
Is transcription factor: no
miRNA regulators (miRDB)
206 targeting PLPPR4, 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-5011-5P | 100.00 | 83.46 | 5820 |
| HSA-MIR-190A-3P | 100.00 | 80.35 | 5520 |
| 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-4682 | 100.00 | 68.89 | 1258 |
| HSA-MIR-200B-3P | 100.00 | 73.31 | 2693 |
| HSA-MIR-200C-3P | 100.00 | 73.35 | 2685 |
| HSA-MIR-429 | 100.00 | 73.44 | 2698 |
| HSA-MIR-4668-3P | 100.00 | 68.74 | 2635 |
| HSA-MIR-5692A | 100.00 | 74.40 | 6850 |
| HSA-MIR-3613-3P | 100.00 | 76.36 | 7965 |
| HSA-MIR-3646 | 100.00 | 73.56 | 5283 |
| HSA-MIR-1277-5P | 100.00 | 73.95 | 5056 |
| HSA-MIR-188-3P | 100.00 | 68.76 | 1240 |
| HSA-MIR-1252-5P | 100.00 | 69.80 | 2774 |
| HSA-MIR-186-5P | 99.99 | 70.83 | 3707 |
| HSA-MIR-3185 | 99.99 | 68.12 | 1959 |
| HSA-MIR-548AW | 99.99 | 72.57 | 3559 |
| HSA-MIR-3662 | 99.99 | 73.82 | 5684 |
| HSA-MIR-12136 | 99.98 | 72.81 | 5713 |
| HSA-MIR-548P | 99.98 | 72.25 | 3784 |
| HSA-MIR-23B-5P | 99.98 | 66.07 | 587 |
| HSA-MIR-520D-5P | 99.98 | 73.34 | 4883 |
| HSA-MIR-524-5P | 99.98 | 73.43 | 4882 |
| HSA-MIR-4482-3P | 99.98 | 72.50 | 3147 |
| HSA-MIR-4775 | 99.98 | 75.00 | 6394 |
| HSA-MIR-3148 | 99.97 | 75.06 | 6478 |
Literature-anchored findings (GeneRIF, showing 2)
- Glycosylation as a critical mechanism for PRG-1 function was significantly reduced by the PRG-1R346T SNP glycosylation as a critical mechanism (PMID:26671989)
- PLPPR4 haploinsufficiency causes neurodevelopmental disorders by disrupting synaptic plasticity via mTOR signalling. (PMID:37550884)
Cross-species orthologs
13 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | plppr4b | ENSDARG00000078755 |
| danio_rerio | plppr4a | ENSDARG00000079671 |
| mus_musculus | Plppr4 | ENSMUSG00000044667 |
| rattus_norvegicus | Plppr4 | ENSRNOG00000016872 |
| 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), PLPPR3 (ENSG00000129951), PLPP2 (ENSG00000141934), PLPP5 (ENSG00000147535), PLPPR1 (ENSG00000148123), PLPP3 (ENSG00000162407), PLPP4 (ENSG00000203805)
Protein
Protein identifiers
Phospholipid phosphatase-related protein type 4 — Q7Z2D5 (reviewed: Q7Z2D5)
Alternative names: Brain-specific phosphatidic acid phosphatase-like protein 1, Inactive 2-lysophosphatidate phosphatase PLPPR4, Lipid phosphate phosphatase-related protein type 4, Plasticity-related gene 1 protein
All UniProt accessions (2): Q7Z2D5, A0AAA9X798
UniProt curated annotations — full annotation on UniProt →
Function. Postsynaptic density membrane protein that indirectly regulates glutamatergic synaptic transmission through lysophosphatidic acid (LPA)-mediated signaling pathways. Binds lysophosphatidic acid (LPA) and mediates its internalization into cells. Could act as receptor or a transporter of this lipid at the post-synaptic membrane. Modulates lysophosphatidic acid (LPA) activity in neuron axonal outgrowth during development by attenuating phospholipid-induced axon collapse.
Subcellular location. Postsynaptic density membrane.
Tissue specificity. Expressed by glutamatergic neurons (at protein level).
Post-translational modifications. O-glycosylated. Probably at Ser-346.
Similarity. Belongs to the PA-phosphatase related phosphoesterase family.
Isoforms (4)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q7Z2D5-1 | 1 | yes |
| Q7Z2D5-2 | 2 | |
| Q7Z2D5-3 | 3 | |
| Q7Z2D5-4 | 4 |
RefSeq proteins (2): NP_001159724, NP_055654* (*=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)
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 |
UniProt features (39 total): glycosylation site 9, modified residue 7, transmembrane region 6, region of interest 4, splice variant 4, sequence variant 4, compositionally biased region 2, sequence conflict 2, chain 1
Structure
Experimental structures (PDB)
0 structures.
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q7Z2D5-F1 | 56.09 | 0.19 |
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 (7): 36, 346, 385, 438, 461, 472, 606
Glycosylation sites (9): 214, 219, 268, 362, 432, 455, 513, 543, 568
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-419408 | Lysosphingolipid and LPA receptors |
MSigDB gene sets: 229 (showing top):
GSE45365_HEALTHY_VS_MCMV_INFECTION_CD8_TCELL_IFNAR_KO_DN, GOBP_LIPID_MODIFICATION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, JAEGER_METASTASIS_DN, GOBP_REGULATION_OF_SYNAPTIC_TRANSMISSION_GLUTAMATERGIC, GOBP_PHOSPHOLIPID_DEPHOSPHORYLATION, TATTATA_MIR374, GOBP_NEUROGENESIS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, ACEVEDO_LIVER_CANCER_WITH_H3K27ME3_UP, MORF_RAD51L3, GOBP_CELL_CELL_SIGNALING, GOBP_CELL_JUNCTION_ORGANIZATION, GOBP_EAR_DEVELOPMENT, MORF_CTSB
GO Biological Process (9): phospholipid metabolic process (GO:0006644), signal transduction (GO:0007165), G protein-coupled receptor signaling pathway (GO:0007186), axonogenesis (GO:0007409), inner ear development (GO:0048839), regulation of synaptic transmission, glutamatergic (GO:0051966), regulation of postsynapse organization (GO:0099175), lipid import into cell (GO:0140354), modulation of chemical synaptic transmission (GO:0050804)
GO Molecular Function (1): phosphatidate phosphatase activity (GO:0008195)
GO Cellular Component (7): plasma membrane (GO:0005886), Schaffer collateral - CA1 synapse (GO:0098685), postsynaptic density membrane (GO:0098839), glutamatergic synapse (GO:0098978), membrane (GO:0016020), synapse (GO:0045202), postsynaptic membrane (GO:0045211)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Class A/1 (Rhodopsin-like receptors) | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| synapse | 2 |
| lipid metabolic process | 1 |
| organophosphate metabolic process | 1 |
| cell communication | 1 |
| cellular process | 1 |
| signaling | 1 |
| regulation of cellular process | 1 |
| cellular response to stimulus | 1 |
| G protein-coupled receptor activity | 1 |
| signal transduction | 1 |
| cell morphogenesis involved in neuron differentiation | 1 |
| neuron projection morphogenesis | 1 |
| axon development | 1 |
| ear development | 1 |
| anatomical structure development | 1 |
| synaptic transmission, glutamatergic | 1 |
| modulation of chemical synaptic transmission | 1 |
| regulation of synapse organization | 1 |
| postsynapse organization | 1 |
| lipid transport | 1 |
| chemical synaptic transmission | 1 |
| regulation of trans-synaptic signaling | 1 |
| lipid phosphatase activity | 1 |
| membrane | 1 |
| cell periphery | 1 |
| postsynaptic density | 1 |
| postsynaptic membrane | 1 |
| postsynaptic specialization membrane | 1 |
| cellular anatomical structure | 1 |
| cell junction | 1 |
| synaptic membrane | 1 |
| postsynapse | 1 |
Protein interactions and networks
STRING
1072 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PLPPR4 | EPHX2 | P34913 | 739 |
| PLPPR4 | GNAS | Q5JWF2 | 570 |
| PLPPR4 | MCF2L2 | Q86YR7 | 502 |
| PLPPR4 | PTH | P01270 | 500 |
| PLPPR4 | LPAR2 | Q9HBW0 | 448 |
| PLPPR4 | SLC38A8 | A6NNN8 | 446 |
| PLPPR4 | STX16 | O14662 | 423 |
| PLPPR4 | PALMD | Q9NP74 | 413 |
| PLPPR4 | CALM1 | P02593 | 406 |
| PLPPR4 | PIP4P2 | Q8N4L2 | 404 |
| PLPPR4 | CALML6 | Q8TD86 | 399 |
| PLPPR4 | CALML4 | Q96GE6 | 399 |
| PLPPR4 | CALML3 | P27482 | 398 |
| PLPPR4 | CALML5 | Q9NZT1 | 398 |
| PLPPR4 | SPDYE16 | A6NNV3 | 397 |
IntAct
6 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| NPAP1 | ACACB | psi-mi:“MI:0914”(association) | 0.350 |
| DESI1 | HRAS | psi-mi:“MI:0914”(association) | 0.350 |
| ZNRF3 | ITGA8 | psi-mi:“MI:0914”(association) | 0.350 |
| PLPPR4 | FAM91A1 | psi-mi:“MI:0914”(association) | 0.350 |
| PLPPR1 | TNFRSF10B | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (12): LPPR4 (Two-hybrid), TRIM67 (Affinity Capture-Western), TRIM9 (Affinity Capture-Western), NDUFAF7 (Affinity Capture-MS), FAM91A1 (Affinity Capture-MS), PVRL2 (Affinity Capture-MS), LPPR4 (Affinity Capture-MS), DCAKD (Affinity Capture-MS), LPPR4 (Affinity Capture-MS), MIB2 (Affinity Capture-MS), LPPR4 (Affinity Capture-MS), LPPR4 (Affinity Capture-MS)
ESM2 similar proteins: A0JPH4, A3KGS3, A4IG66, A9ZLX4, F1M8G0, F1Q930, H2MCM1, O17482, O23693, O54828, O95772, P49021, P49805, P86411, Q08DA4, Q17QW2, Q28C33, Q28EW0, Q3B7T1, Q3UD82, Q4QQM5, Q5R9R1, Q5VW38, Q5YLM1, Q5ZKN3, Q66H44, Q6GQV7, Q6WQJ1, Q7Z2D5, Q7ZW11, Q7ZYA0, Q810L4, Q8AVJ1, Q8BKU8, Q8BUV8, Q8BXN9, Q8CB19, Q8IY22, Q8N3A8, Q8N3S3
Diamond homologs: A4II83, Q29RT8, Q32ZL2, Q3SZE3, Q6GM05, Q6GQ62, Q6IQH6, Q6T4P5, Q6W5G4, Q6WAY2, Q7TMB0, Q7TMB7, Q7TME0, Q7TPB0, Q7Z2D5, Q8BFZ2, Q8BJ52, Q8TBJ4, Q8VCY8, Q96GM1, O08564, O14494, O14495, O43688, O88956, P60588, P97544, Q04396, Q0WNG6, Q10022, Q2HJ61, Q3UMZ3, Q54PR7, Q61469, Q8K593, Q8LFD1, Q8NEB5, Q99JY8, Q9DAX2, Q9V576
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
47 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 38 |
| Likely benign | 1 |
| Benign | 1 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
923 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 1:99287963:A:AG | acceptor_gain | 1.0000 |
| 1:99287964:G:GG | acceptor_gain | 1.0000 |
| 1:99296860:A:G | donor_gain | 1.0000 |
| 1:99299032:TA:T | acceptor_loss | 1.0000 |
| 1:99299033:A:AG | acceptor_gain | 1.0000 |
| 1:99299033:A:C | acceptor_loss | 1.0000 |
| 1:99299034:G:GA | acceptor_loss | 1.0000 |
| 1:99299034:G:GG | acceptor_gain | 1.0000 |
| 1:99299034:GGT:G | acceptor_gain | 1.0000 |
| 1:99299228:CAGG:C | donor_loss | 1.0000 |
| 1:99299229:AG:A | donor_loss | 1.0000 |
| 1:99299230:GG:G | donor_loss | 1.0000 |
| 1:99299231:G:C | donor_loss | 1.0000 |
| 1:99300903:T:TA | acceptor_gain | 1.0000 |
| 1:99300907:A:AG | acceptor_gain | 1.0000 |
| 1:99300908:G:GG | acceptor_gain | 1.0000 |
| 1:99300908:GA:G | acceptor_gain | 1.0000 |
| 1:99300908:GAA:G | acceptor_gain | 1.0000 |
| 1:99300908:GAAA:G | acceptor_gain | 1.0000 |
| 1:99300964:TCGGT:T | donor_loss | 1.0000 |
| 1:99300966:GGTA:G | donor_loss | 1.0000 |
| 1:99300967:G:GG | donor_gain | 1.0000 |
| 1:99300968:TAA:T | donor_loss | 1.0000 |
| 1:99301722:A:G | acceptor_gain | 1.0000 |
| 1:99301723:GAT:G | acceptor_gain | 1.0000 |
| 1:99301831:G:GG | donor_gain | 1.0000 |
| 1:99285187:A:G | donor_gain | 0.9900 |
| 1:99287235:GCAT:G | donor_gain | 0.9900 |
| 1:99287964:GT:G | acceptor_gain | 0.9900 |
| 1:99287964:GTT:G | acceptor_gain | 0.9900 |
AlphaMissense
5007 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 1:99287992:A:C | S84R | 1.000 |
| 1:99287994:C:A | S84R | 1.000 |
| 1:99287994:C:G | S84R | 1.000 |
| 1:99299127:T:C | C211R | 1.000 |
| 1:99299129:C:G | C211W | 1.000 |
| 1:99287972:T:A | I77K | 0.999 |
| 1:99288049:T:A | C103S | 0.999 |
| 1:99288049:T:C | C103R | 0.999 |
| 1:99288050:G:A | C103Y | 0.999 |
| 1:99288050:G:C | C103S | 0.999 |
| 1:99288051:C:G | C103W | 0.999 |
| 1:99288121:A:C | S127R | 0.999 |
| 1:99288123:C:A | S127R | 0.999 |
| 1:99288123:C:G | S127R | 0.999 |
| 1:99296861:T:C | F178L | 0.999 |
| 1:99296863:C:A | F178L | 0.999 |
| 1:99296863:C:G | F178L | 0.999 |
| 1:99296867:G:C | G180R | 0.999 |
| 1:99299050:G:A | G185E | 0.999 |
| 1:99299127:T:A | C211S | 0.999 |
| 1:99299128:G:A | C211Y | 0.999 |
| 1:99299128:G:C | C211S | 0.999 |
| 1:99299128:G:T | C211F | 0.999 |
| 1:99299193:T:A | C233S | 0.999 |
| 1:99299193:T:C | C233R | 0.999 |
| 1:99299194:G:A | C233Y | 0.999 |
| 1:99299194:G:C | C233S | 0.999 |
| 1:99299195:C:G | C233W | 0.999 |
| 1:99301862:G:C | G311R | 0.999 |
| 1:99301863:G:A | G311D | 0.999 |
dbSNP variants (sampled 300 via entrez): RS1000103229 (1:99303528 A>G), RS1000172515 (1:99276003 A>T), RS1000181470 (1:99280677 G>A,T), RS1000189052 (1:99286323 T>C), RS1000203556 (1:99276270 G>A,C), RS1000233540 (1:99274658 C>G), RS1000327365 (1:99280164 T>C), RS1000357760 (1:99269935 A>C), RS1000485831 (1:99262956 C>A,T), RS1000539066 (1:99277641 A>C), RS1000610512 (1:99298781 G>A,T), RS1000644348 (1:99286150 A>G), RS1000760631 (1:99271686 T>C), RS1000833060 (1:99270126 A>C), RS1000892240 (1:99265932 G>A)
Disease associations
OMIM: gene MIM:607813 | 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 |
|---|---|---|
| GCST001766_3 | Non-alcoholic fatty liver disease histology (other) | 5.000000e-06 |
| GCST003802_1 | Response to citalopram or escitalopram in depression | 1.000000e-07 |
| GCST006465_10 | Endometrial cancer (endometrioid histology) | 4.000000e-07 |
| GCST009733_73 | Urinary metabolite levels in chronic kidney disease | 2.000000e-12 |
| GCST009735_26 | Urinary metabolite modules (eigenmetabolites) in chronic kidney disease | 3.000000e-11 |
EFO canonical traits (1, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0005116 | urinary metabolite measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: no
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
25 total (human), top 25 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| sodium arsenite | decreases expression, decreases methylation, increases expression | 3 |
| Valproic Acid | increases expression, decreases methylation | 3 |
| trichostatin A | decreases expression, increases expression | 2 |
| Phenylmercuric Acetate | affects cotreatment, decreases expression | 2 |
| geldanamycin | increases expression | 1 |
| methylmercuric chloride | decreases expression | 1 |
| bisphenol A | increases expression | 1 |
| ferrous chloride | decreases expression | 1 |
| triadimefon | 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 |
| dorsomorphin | affects cotreatment, decreases expression | 1 |
| incobotulinumtoxinA | increases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Benzo(a)pyrene | affects methylation, increases methylation | 1 |
| Cadmium | decreases expression, increases abundance | 1 |
| Diethylhexyl Phthalate | decreases expression | 1 |
| Doxorubicin | decreases expression | 1 |
| Lead | affects expression | 1 |
| Mercury | increases expression | 1 |
| Methotrexate | decreases expression | 1 |
| Tretinoin | decreases expression | 1 |
| 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide | increases expression | 1 |
| Cadmium Chloride | decreases expression, increases abundance | 1 |
| Permethrin | decreases expression | 1 |
| Particulate Matter | increases abundance, 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): endometrial carcinoma, metabolic dysfunction-associated steatotic liver disease