PNLIPRP2
gene geneOn this page
Also known as PLRP2
Summary
PNLIPRP2 (pancreatic lipase related protein 2 (gene/pseudogene), HGNC:9157) is a protein-coding gene on chromosome 10q25.3, encoding Pancreatic lipase-related protein 2 (P54317). Lipase that primarily hydrolyzes triglycerides and galactosylglycerides.
This gene encodes a lipase that hydrolyzes galactolipids, the main components of plant membrane lipids. An allelic polymorphism in this gene results in both coding and non-coding variants; the reference genome represents the non-coding allele.
Source: NCBI Gene 5408 — RefSeq curated summary.
At a glance
- GWAS associations: 7
- Clinical variants (ClinVar): 14 total
- Druggable target: yes
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9157 |
| Approved symbol | PNLIPRP2 |
| Name | pancreatic lipase related protein 2 (gene/pseudogene) |
| Location | 10q25.3 |
| Locus type | gene with protein product |
| Status | Approved |
| Aliases | PLRP2 |
| Ensembl gene | ENSG00000266200 |
| Ensembl biotype | protein_coding |
| OMIM | 604423 |
| Entrez | 5408 |
Gene structure
Transcript identifiers
Ensembl transcripts: 3 — 2 protein_coding_CDS_not_defined, 1 protein_coding_LoF
ENST00000579578, ENST00000586762, ENST00000588823
RefSeq mRNA: 0 — MANE Select: None
Canonical transcript exons
ENST00000579578 — 13 exons
| Exon | Start | End |
|---|---|---|
| ENSE00002703094 | 116627763 | 116627874 |
| ENSE00002703320 | 116629943 | 116630062 |
| ENSE00002722573 | 116645034 | 116645143 |
| ENSE00002726850 | 116636785 | 116636914 |
| ENSE00003566410 | 116631238 | 116631357 |
| ENSE00003576757 | 116623945 | 116624099 |
| ENSE00003632325 | 116638369 | 116638480 |
| ENSE00003644864 | 116625946 | 116626071 |
| ENSE00003685503 | 116634841 | 116634959 |
| ENSE00003691483 | 116626864 | 116626998 |
| ENSE00003741133 | 116621306 | 116621354 |
| ENSE00003757402 | 116642115 | 116642282 |
| ENSE00003757853 | 116620953 | 116620978 |
Expression profiles
Bgee: expression breadth ubiquitous, 149 present calls, max score 99.87.
FANTOM5 (CAGE): breadth tissue_specific, TPM avg 4.4907 / max 5662.6471, expressed in 16 samples.
FANTOM5 promoters (2 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 107243 | 3.9765 | 15 |
| 107242 | 0.5143 | 7 |
Top tissues by expression
291 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| body of pancreas | UBERON:0001150 | 99.87 | gold quality |
| pancreas | UBERON:0001264 | 97.51 | gold quality |
| jejunal mucosa | UBERON:0000399 | 96.90 | gold quality |
| duodenum | UBERON:0002114 | 95.85 | gold quality |
| islet of Langerhans | UBERON:0000006 | 94.10 | gold quality |
| rectum | UBERON:0001052 | 87.63 | gold quality |
| ileal mucosa | UBERON:0000331 | 84.12 | gold quality |
| mucosa of sigmoid colon | UBERON:0004993 | 82.92 | gold quality |
| epithelial cell of pancreas | CL:0000083 | 82.85 | gold quality |
| small intestine | UBERON:0002108 | 82.50 | gold quality |
| small intestine Peyer’s patch | UBERON:0003454 | 82.31 | gold quality |
| colonic mucosa | UBERON:0000317 | 80.50 | gold quality |
| jejunum | UBERON:0002115 | 77.37 | gold quality |
| mucosa of transverse colon | UBERON:0004991 | 76.22 | gold quality |
| male germ line stem cell (sensu Vertebrata) in testis | CL:0000089 ∩ UBERON:0000473 | 73.29 | gold quality |
| body of stomach | UBERON:0001161 | 68.47 | gold quality |
| intestine | UBERON:0000160 | 68.04 | gold quality |
| transverse colon | UBERON:0001157 | 66.75 | gold quality |
| stomach | UBERON:0000945 | 65.19 | gold quality |
| large intestine | UBERON:0000059 | 63.51 | gold quality |
| colon | UBERON:0001155 | 62.97 | gold quality |
| right coronary artery | UBERON:0001625 | 62.49 | gold quality |
| tibial nerve | UBERON:0001323 | 60.65 | gold quality |
| fundus of stomach | UBERON:0001160 | 60.46 | gold quality |
| ectocervix | UBERON:0012249 | 59.69 | gold quality |
| metanephros cortex | UBERON:0010533 | 59.66 | gold quality |
| right lobe of liver | UBERON:0001114 | 58.75 | gold quality |
| left uterine tube | UBERON:0001303 | 58.31 | gold quality |
| sigmoid colon | UBERON:0001159 | 57.87 | gold quality |
| right uterine tube | UBERON:0001302 | 56.21 | gold quality |
Single-cell (SCXA)
Detected in 4 experiment(s), a significant marker in 4.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-81547 | yes | 5069.74 |
| E-MTAB-5061 | yes | 3386.48 |
| E-ENAD-27 | yes | 7.38 |
| E-ANND-3 | no | 0.00 |
Regulation
Is transcription factor: no
Literature-anchored findings (GeneRIF, showing 13)
- Investigation of the substrate specificity of purified recombinant pancreatic lipase-related protein 2 reveals that its physiological role is digestion of galactolipids, the main plant lipids present in the vegetables which are a part of the human diet. (PMID:15287741)
- Patients with chronic calcifying pancreatitis (CCP) had significantly lower levels of both pancreatic lipase and PLRP2 than the controls subjects. (PMID:16887271)
- finding that the inhibition of nonproteolyzed rHPLRP2 by tetrahydrolipstatin and diethyl-p-nitrophenyl phosphate does not involve any bile salt requirements suggests that the rHPLRP2 lid adopts an open conformation in aqueous media. (PMID:17401110)
- Most of the structural and kinetic properties of HPLRP2 were found to be different from those of rat PLRP2 (PMID:18702514)
- The pancreatic lipase related protein 2 is required for lipid-dependent cytotoxicity mediated by cytotoxic T lymphocytes. (PMID:19548271)
- localization of PLRP2 in endosomes of monocytes (PMID:21554982)
- Pancreatic lipase-related protein-2 (PLRP2) can contribute to dietary fat digestion in human newborns (PMID:21652702)
- BSSL and PLRP2 hydrolyzed triglycerides (TG) to free FA and glycerol. (PMID:21865348)
- Pancreatic lipase-related protein 2 digests fats in human milk and formula in concert with gastric lipase and carboxyl ester lipase. (PMID:23732775)
- The beta5-Loop and Lid Domain Contribute to the Substrate Specificity of Pancreatic Lipase-related Protein 2 (PMID:26494624)
- findings show that endosomal lipases participate in lipid antigen presentation by processing lipid antigens and have a role in T cell immunity against mycobacteria (PMID:27662254)
- We analyzed mRNA expression in human pancreatic cDNA samples and found the variant allele markedly reduced. We conclude that the p.W358X truncation variant of PNLIPRP2 is expressed poorly and has no significant effect on the risk of chronic pancreatitis (PMID:30408063)
- Pancreatic lipase and its related proteins: where are we now? (PMID:38081381)
Cross-species orthologs
17 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| mus_musculus | Pnliprp2 | ENSMUSG00000025091 |
| rattus_norvegicus | Pnliprp2 | ENSRNOG00000017982 |
| drosophila_melanogaster | CG5162 | FBGN0030828 |
| drosophila_melanogaster | CG6675 | FBGN0032973 |
| drosophila_melanogaster | CG6472 | FBGN0034166 |
| drosophila_melanogaster | CG5665 | FBGN0036977 |
| drosophila_melanogaster | sxe2 | FBGN0038398 |
| drosophila_melanogaster | CG4582 | FBGN0039344 |
| drosophila_melanogaster | CG6296 | FBGN0039470 |
| drosophila_melanogaster | CG6295 | FBGN0039471 |
| drosophila_melanogaster | CG17192 | FBGN0039472 |
| drosophila_melanogaster | CG17191 | FBGN0039473 |
| drosophila_melanogaster | CG6283 | FBGN0039474 |
| drosophila_melanogaster | CG6277 | FBGN0039475 |
| drosophila_melanogaster | CG6271 | FBGN0039476 |
| drosophila_melanogaster | CG4267 | FBGN0264979 |
| drosophila_melanogaster | CG18258 | FBGN0265267 |
Paralogs (9): LIPG (ENSG00000101670), PLA1A (ENSG00000144837), LIPH (ENSG00000163898), LIPC (ENSG00000166035), LPL (ENSG00000175445), PNLIP (ENSG00000175535), PNLIPRP1 (ENSG00000187021), LIPI (ENSG00000188992), PNLIPRP3 (ENSG00000203837)
Protein
Protein identifiers
Pancreatic lipase-related protein 2 — P54317 (reviewed: P54317)
Alternative names: Cytotoxic T lymphocyte lipase, Galactolipase, Triacylglycerol lipase
All UniProt accessions (0):
UniProt curated annotations — full annotation on UniProt →
Function. Lipase that primarily hydrolyzes triglycerides and galactosylglycerides. In neonates, may play a major role in pancreatic digestion of dietary fats such as milk fat globules enriched in long-chain triglycerides. Hydrolyzes short-, medium- and long-chain fatty acyls in triglycerides without apparent positional specificity. Can completely deacylate triacylglycerols. When the liver matures and bile salt synthesis increases, likely functions mainly as a galactolipase and monoacylglycerol lipase. Hydrolyzes monogalactosyldiglycerols (MGDG) and digalactosyldiacylglycerols (DGDG) present in a plant-based diet, releasing long-chain polyunsaturated fatty acids. Hydrolyzes medium- and long-chain fatty acyls in galactolipids. May act together with LIPF to hydrolyze partially digested triglycerides. Hydrolyzes long-chain monoglycerides with high efficiency. In cytotoxic T cells, contributes to perforin-dependent cell lysis, but is unlikely to mediate direct cytotoxicity. Also has low phospholipase activity. In neurons, required for the localization of the phospholipid 1-oleoyl-2-palmitoyl-PC (OPPC) to neurite tips through acyl chain remodeling of membrane phospholipids. The resulting OPPC-rich lipid membrane domain recruits the t-SNARE protein STX4 by selectively interacting with the STX4 transmembrane domain and this promotes surface expression of the dopamine transporter SLC6A3/DAT at neurite tips by facilitating fusion of SLC6A3-containing transport vesicles with the plasma membrane.
Subcellular location. Secreted. Zymogen granule membrane. Cell projection. Neuron projection.
Tissue specificity. Pancreas.
Activity regulation. Regulated by CLPS and bile salts levels ranging 1-5 mM in neonates and 2-30 mM in healthy adults. CLPS stimulates milk fat digestion in the presence of 4 mM bile salts. Triacylglycerol lipase activity toward short- and medium-chain triglycerides is inhibited by increasing concentrations of bile salts and weakly reactivated by CLPS. Optimal triacylglycerol lipase activity is reached at bile salts concentrations ranging from 0.1 to 0.5 mM and then decreases at concentrations higher than 1 mM. Lipase activity toward long-chain glycerolipids is stimulated by CLPS in the presence of 4 mM bile salts. Galactolipase activity is inhibited at high concentrations of bile salts. Triacylglycerol lipase activity is inhibited by anti-obesity drug tetrahydrolipstatin.
Pathway. Glycerolipid metabolism; triacylglycerol degradation. Glycolipid metabolism.
Similarity. Belongs to the AB hydrolase superfamily. Lipase family.
RefSeq proteins (0): (*=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR000734 | TAG_lipase | Family |
| IPR001024 | PLAT/LH2_dom | Domain |
| IPR002331 | Lipase_panc | Family |
| IPR013818 | Lipase | Domain |
| IPR016272 | Lipase_LIPH | Family |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
| IPR033906 | Lipase_N | Domain |
| IPR036392 | PLAT/LH2_dom_sf | Homologous_superfamily |
Pfam: PF00151, PF01477
Enzyme classification (BRENDA):
- EC 3.1.1.26 — galactolipase (BRENDA: 63 organisms, 125 substrates, 44 inhibitors, 15 Km, 2 kcat entries)
Substrate kinetics (BRENDA)
6 substrates with measured Km, best-characterized 6. Km ranges are aggregated across organisms/conditions.
| Substrate | Km (mM) | Measurements |
|---|---|---|
| MONOGALACTOSYLDIACYLGLYCEROL | 0.119–0.65 | 6 |
| PHOSPHATIDYLCHOLINE | 0.53–1.7 | 3 |
| 1,2-DIACYL-3-O-ALPHA-D-GALACTOSYL-(1->6)-BETA-D- | 0.54–1.05 | 2 |
| DIGALACTOSYLDIACYLGLYCEROL | 0.31 | 1 |
| DIGALACTOSYLDILINOLENIN | 7.8 | 1 |
| MONOGALACTOSYLDILINOLENIN | 1.5 | 1 |
Catalyzed reactions (Rhea), 12 shown:
- a triacylglycerol + H2O = a diacylglycerol + a fatty acid + H(+) (RHEA:12044)
- a 1,2-diacyl-3-O-(beta-D-galactosyl)-sn-glycerol + 2 H2O = 3-beta-D-galactosyl-sn-glycerol + 2 a fatty acid + 2 H(+) (RHEA:13189)
- 1-(9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:38487)
- 1,2,3-tri-(9Z-octadecenoyl)-glycerol + H2O = di-(9Z)-octadecenoylglycerol + (9Z)-octadecenoate + H(+) (RHEA:38575)
- (9Z-octadecenoyl)-glycerol + H2O = glycerol + (9Z)-octadecenoate + H(+) (RHEA:39955)
- 1,2,3-tributanoylglycerol + H2O = dibutanoylglycerol + butanoate + H(+) (RHEA:40475)
- a 1,2-diacyl-sn-glycero-3-phosphocholine + H2O = a monoacyl-sn-glycero-3-phosphocholine + a fatty acid + H(+) (RHEA:44664)
- 1,2,3-trioctanoylglycerol + H2O = dioctanoylglycerol + octanoate + H(+) (RHEA:47864)
- di-(9Z)-octadecenoylglycerol + H2O = (9Z-octadecenoyl)-glycerol + (9Z)-octadecenoate + H(+) (RHEA:47868)
- 1,2,3-tripropanoylglycerol + H2O = dipropanoylglycerol + propanoate + H(+) (RHEA:48024)
- a 1,2-diacyl-3-O-[alpha-D-galactosyl-(1->6)-beta-D-galactosyl]-sn-glycerol + H2O = acyl-3-O-[alpha-D-galactosyl-(1->6)-beta-D-galactosyl]-sn-glycerol + a fatty acid + H(+) (RHEA:48372)
- 1,2-didodecanoyl-3-O-[alpha-D-galactosyl-(1->6)-beta-D-galactosyl]-sn-glycerol + H2O = dodecanoyl-3-O-[alpha-D-galactosyl-(1->6)-beta-D-galactosyl]-sn-glycerol + dodecanoate + H(+) (RHEA:48516)
UniProt features (74 total): strand 27, helix 13, turn 9, disulfide bond 6, binding site 4, active site 3, glycosylation site 2, sequence variant 2, sequence conflict 2, region of interest 2, signal peptide 1, chain 1, domain 1, mutagenesis site 1
Structure
Experimental structures (PDB)
2 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 2OXE | X-RAY DIFFRACTION | 2.8 |
| 2PVS | X-RAY DIFFRACTION | 3 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-P54317-F1 | 93.19 | 0.87 |
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): 171 (nucleophile); 195 (charge relay system); 282 (charge relay system)
Ligand- & substrate-binding residues (4): 211; 214; 206; 209
Disulfide bonds (6): 21–27, 109–120, 256–280, 304–315, 318–323, 453–469
Glycosylation sites (2): 353, 428
Mutagenesis-validated functional residues (1):
| Position | Phenotype |
|---|---|
| 353 | loss of n-glycosylation. |
Function
Pathways and Gene Ontology
Reactome pathways
2 pathways
| ID | Pathway |
|---|---|
| R-HSA-192456 | Digestion of dietary lipid |
| R-HSA-9925561 | Developmental Lineage of Pancreatic Acinar Cells |
MSigDB gene sets: 125 (showing top):
GOBP_DIGESTION, GOBP_PHOSPHOLIPID_METABOLIC_PROCESS, GOBP_PHOSPHATIDYLCHOLINE_METABOLIC_PROCESS, GOBP_STEROL_HOMEOSTASIS, GOCC_SECRETORY_GRANULE, GCANCTGNY_MYOD_Q6, GOBP_CARBOHYDRATE_DERIVATIVE_CATABOLIC_PROCESS, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_MONOCARBOXYLIC_ACID_METABOLIC_PROCESS, GOBP_MEMBRANE_LIPID_CATABOLIC_PROCESS, GOBP_ORGANIC_ACID_BIOSYNTHETIC_PROCESS, GOBP_LIPID_DIGESTION, GOBP_CARBOHYDRATE_DERIVATIVE_METABOLIC_PROCESS, GOBP_LIPID_HOMEOSTASIS, GOBP_GLYCEROLIPID_METABOLIC_PROCESS
GO Biological Process (12): fatty acid biosynthetic process (GO:0006633), triglyceride metabolic process (GO:0006641), phospholipid catabolic process (GO:0009395), galactolipid catabolic process (GO:0019376), triglyceride catabolic process (GO:0019433), high-density lipoprotein particle remodeling (GO:0034375), phosphatidylcholine catabolic process (GO:0034638), cholesterol homeostasis (GO:0042632), lipid digestion (GO:0044241), cellular defense response (GO:0006968), response to bacterium (GO:0009617), intestinal lipid catabolic process (GO:0044258)
GO Molecular Function (7): lipoprotein lipase activity (GO:0004465), glycerophospholipase activity (GO:0004620), triacylglycerol lipase activity (GO:0004806), calcium ion binding (GO:0005509), glycerophospholipid phospholipase A1 activity (GO:0008970), monoacylglycerol lipase activity (GO:0047372), galactolipase activity (GO:0047714)
GO Cellular Component (4): extracellular region (GO:0005576), obsolete extracellular space (GO:0005615), zymogen granule membrane (GO:0042589), neuron projection (GO:0043005)
Reactome top-level categories
Rollup of top-2 pathways:
| Category | Pathways |
|---|---|
| Digestion | 1 |
| Developmental Cell Lineages of the Exocrine Pancreas | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| lipase activity | 3 |
| carboxylic ester hydrolase activity | 3 |
| lipid catabolic process | 2 |
| fatty acid metabolic process | 1 |
| lipid biosynthetic process | 1 |
| monocarboxylic acid biosynthetic process | 1 |
| acylglycerol metabolic process | 1 |
| phospholipid metabolic process | 1 |
| organophosphate catabolic process | 1 |
| galactolipid metabolic process | 1 |
| glycolipid catabolic process | 1 |
| triglyceride metabolic process | 1 |
| acylglycerol catabolic process | 1 |
| plasma lipoprotein particle remodeling | 1 |
| phosphatidylcholine metabolic process | 1 |
| glycerophospholipid catabolic process | 1 |
| sterol homeostasis | 1 |
| digestion | 1 |
| defense response | 1 |
| response to other organism | 1 |
| triacylglycerol lipase activity | 1 |
| phospholipase activity | 1 |
| metal ion binding | 1 |
| A1-type glycerophospholipase activity | 1 |
| cellular anatomical structure | 1 |
| secretory granule membrane | 1 |
| zymogen granule | 1 |
| plasma membrane bounded cell projection | 1 |
Protein interactions and networks
STRING
0 interactions, top by confidence (×1000):
IntAct
10 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| PNLIPRP2 | EDC3 | psi-mi:“MI:0915”(physical association) | 0.620 |
| PNLIP | LAMC1 | psi-mi:“MI:0914”(association) | 0.530 |
| PNLIPRP2 | TGFB1 | psi-mi:“MI:0914”(association) | 0.530 |
| CYB5R4 | PNLIPRP2 | psi-mi:“MI:0915”(physical association) | 0.400 |
| SPRTN | SPOP | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF436 | PNLIPRP2 | psi-mi:“MI:0914”(association) | 0.350 |
| GRK6 | PNLIPRP2 | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (14): PNLIPRP2 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), DCP1B (Affinity Capture-MS), EDC3 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), TGFB1 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), DDX6 (Affinity Capture-MS), PNLIPRP2 (Affinity Capture-MS), DCP1A (Affinity Capture-MS), PNLIPRP2 (Co-fractionation), PNLIPRP2 (Co-fractionation)
ESM2 similar proteins: A0A0M3KKW3, A2VBC4, A5PK46, A8PUY1, B2D0J5, C0HLL3, D7EZN2, O88354, P00591, P06857, P0CH47, P0CH86, P0CH87, P0DMB4, P0DMB5, P0DPT0, P0DSI2, P16233, P17892, P27657, P29183, P35501, P35502, P49369, P50903, P51528, P53357, P54315, P54316, P54317, P54318, P81139, P86100, P9WEM6, Q02157, Q04456, Q06478, Q17RR3, Q3ZU95, Q5BKQ4
Diamond homologs: A2VBC4, A5PK46, C0HLL3, D7EZN2, J3RZ81, O46559, O46647, O88354, P00591, P06857, P06858, P0CH47, P0CH86, P11150, P11151, P11152, P11153, P11602, P16233, P17892, P27656, P27657, P29183, P49060, P49923, P50903, P51528, P53357, P54315, P54316, P54317, P54318, P55031, P81139, P83629, P97535, Q02157, Q06000, Q06478, Q17RR3
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
14 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 10 |
| Likely benign | 0 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1395 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 10:116624100:G:GG | donor_gain | 1.0000 |
| 10:116625934:A:AG | acceptor_gain | 1.0000 |
| 10:116625944:A:AG | acceptor_gain | 1.0000 |
| 10:116625945:G:GG | acceptor_gain | 1.0000 |
| 10:116625945:GCTA:G | acceptor_gain | 1.0000 |
| 10:116626069:AAG:A | donor_loss | 1.0000 |
| 10:116626859:CCCA:C | acceptor_loss | 1.0000 |
| 10:116626861:CA:C | acceptor_loss | 1.0000 |
| 10:116626862:A:AG | acceptor_gain | 1.0000 |
| 10:116626863:G:GT | acceptor_gain | 1.0000 |
| 10:116626863:GA:G | acceptor_gain | 1.0000 |
| 10:116626863:GAA:G | acceptor_gain | 1.0000 |
| 10:116626863:GAAA:G | acceptor_gain | 1.0000 |
| 10:116626863:GAAAA:G | acceptor_gain | 1.0000 |
| 10:116626990:GCACT:G | donor_gain | 1.0000 |
| 10:116627368:G:T | donor_gain | 1.0000 |
| 10:116627391:G:GT | donor_gain | 1.0000 |
| 10:116629942:GGGCT:G | acceptor_gain | 1.0000 |
| 10:116630061:AGGTG:A | donor_loss | 1.0000 |
| 10:116630062:GGTG:G | donor_loss | 1.0000 |
| 10:116630063:G:A | donor_loss | 1.0000 |
| 10:116630064:T:G | donor_loss | 1.0000 |
| 10:116634956:GGAG:G | donor_gain | 1.0000 |
| 10:116634957:G:GT | donor_gain | 1.0000 |
| 10:116634957:GAGGT:G | donor_loss | 1.0000 |
| 10:116634960:G:GA | donor_loss | 1.0000 |
| 10:116634961:T:A | donor_loss | 1.0000 |
| 10:116638481:G:GG | donor_gain | 1.0000 |
| 10:116642113:A:AG | acceptor_gain | 1.0000 |
| 10:116642113:AGAG:A | acceptor_gain | 1.0000 |
AlphaMissense
0 scored. Top likely-pathogenic:
dbSNP variants (sampled 300 via entrez): RS1000288981 (10:116637116 T>C), RS1000364041 (10:116645638 G>A), RS1000798722 (10:116645256 C>A,T), RS1000997797 (10:116626534 G>A,C), RS1001051059 (10:116632570 T>C), RS1001103316 (10:116632349 C>G,T), RS1001709532 (10:116638214 A>C), RS1001914954 (10:116632909 G>A), RS1002072651 (10:116639423 A>T), RS1002163239 (10:116637925 G>C), RS1002228219 (10:116621484 C>T), RS1002275931 (10:116621212 C>A,G), RS1002444850 (10:116639894 C>A,T), RS1002563951 (10:116622741 A>G,T), RS1002766241 (10:116628199 C>A)
Disease associations
OMIM: gene MIM:604423 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
7 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST001414_24 | Phospholipid levels (plasma) | 8.000000e-09 |
| GCST003771_4 | Loneliness | 1.000000e-06 |
| GCST003772_15 | Loneliness (linear analysis) | 8.000000e-07 |
| GCST003773_9 | Loneliness (multivariate analysis) | 4.000000e-06 |
| GCST005951_66 | Body mass index | 4.000000e-08 |
| GCST006585_461 | Blood protein levels | 0.000000e+00 |
| GCST010204_154 | Low density lipoprotein cholesterol levels | 4.000000e-10 |
EFO canonical traits (3, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0007865 | loneliness measurement |
| EFO:0004340 | body mass index |
| EFO:0004611 | low density lipoprotein cholesterol measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2169728 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
17 total (human), top 17 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| Valproic Acid | increases methylation, affects cotreatment, increases expression, affects expression | 6 |
| propionaldehyde | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| sodium arsenite | decreases expression | 1 |
| butyraldehyde | increases expression | 1 |
| pentanal | increases expression | 1 |
| 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide | affects cotreatment, increases expression | 1 |
| belinostat | decreases expression | 1 |
| dorsomorphin | increases expression, affects cotreatment | 1 |
| Orlistat | decreases activity | 1 |
| Aldehydes | increases expression | 1 |
| Benzo(a)pyrene | decreases methylation | 1 |
| Paraoxon | decreases activity | 1 |
| Aflatoxin B1 | increases methylation | 1 |
| Copper Sulfate | decreases expression | 1 |
| Galactolipids | increases metabolic processing | 1 |
| Monoglycerides | increases metabolic processing | 1 |
ChEMBL screening assays
5 unique, capped per target: 5 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2174360 | Binding | Inhibition of recombinant HPLRP2 expressed in Pichia pastoris assessed as residual activity at 40 molar excess after 30 mins by mass spectrophotometric analysis in presence of NaTDC | Analysis of the discriminative inhibition of mammalian digestive lipases by 3-phenyl substituted 1,3,4-oxadiazol-2(3H)-ones. — Eur J Med Chem |
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.