PPT2
gene geneOn this page
Summary
PPT2 (palmitoyl-protein thioesterase 2, HGNC:9326) is a protein-coding gene on chromosome 6p21.32, encoding Lysosomal thioesterase PPT2 (Q9UMR5). Catalyzes the cleavage of thioester bonds from S-palmitoyl-CoA or S-palmitoyl-N-acetylcysteamine (unbranched structures) but does not have activity against palmitoylcysteine or palmitoylated proteins, branched structures or bulky head groups.
This gene encodes a member of the palmitoyl-protein thioesterase family. The encoded glycosylated lysosomal protein has palmitoyl-CoA hydrolase activity in vitro, but does not hydrolyze palmitate from cysteine residues in proteins. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the downstream EGFL8 (EGF-like-domain, multiple 8) gene.
Source: NCBI Gene 9374 — RefSeq curated summary.
At a glance
- GWAS associations: 26
- Clinical variants (ClinVar): 34 total
- Druggable target: yes
- MANE Select transcript:
NM_005155
Identifiers
Gene identifiers
| Field | Value |
|---|---|
| HGNC ID | HGNC:9326 |
| Approved symbol | PPT2 |
| Name | palmitoyl-protein thioesterase 2 |
| Location | 6p21.32 |
| Locus type | gene with protein product |
| Status | Approved |
| Ensembl gene | ENSG00000221988 |
| Ensembl biotype | protein_coding |
| OMIM | 603298 |
| Entrez | 9374 |
Gene structure
Transcript identifiers
Ensembl transcripts: 28 — 23 protein_coding, 3 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron
ENST00000324816, ENST00000361568, ENST00000375137, ENST00000375143, ENST00000395523, ENST00000414204, ENST00000424499, ENST00000436118, ENST00000465047, ENST00000478521, ENST00000493548, ENST00000495908, ENST00000897785, ENST00000897786, ENST00000897787, ENST00000897788, ENST00000897789, ENST00000897790, ENST00000937057, ENST00000937058, ENST00000937059, ENST00000937060, ENST00000937061, ENST00000937062, ENST00000937063, ENST00000937064, ENST00000937065, ENST00000963978
RefSeq mRNA: 3 — MANE Select: NM_005155
NM_001204103, NM_005155, NM_138717
CCDS: CCDS4740, CCDS4742
Canonical transcript exons
ENST00000324816 — 9 exons
| Exon | Start | End |
|---|---|---|
| ENSE00001700957 | 32162807 | 32163675 |
| ENSE00003697195 | 32154587 | 32154777 |
| ENSE00003697479 | 32155688 | 32155783 |
| ENSE00003697608 | 32157637 | 32157720 |
| ENSE00003702089 | 32155030 | 32155183 |
| ENSE00003784379 | 32155871 | 32155978 |
| ENSE00003847244 | 32154141 | 32154404 |
| ENSE00003890867 | 32157840 | 32157924 |
| ENSE00003894080 | 32162568 | 32162622 |
Expression profiles
Bgee: expression breadth ubiquitous, 134 present calls, max score 95.15.
FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.0688 / max 108.5483, expressed in 1368 samples.
FANTOM5 promoters (4 alternative TSS)
| Promoter ID | TPM avg | Samples expressed |
|---|---|---|
| 67115 | 10.4936 | 1676 |
| 67112 | 5.2046 | 1140 |
| 67113 | 2.7824 | 1198 |
| 67114 | 0.8642 | 543 |
Top tissues by expression
134 total, by Bgee expression score (0-100, higher = more expressed):
| Tissue | Anatomy ID | Expression score | Quality |
|---|---|---|---|
| left ovary | UBERON:0002119 | 95.15 | gold quality |
| right ovary | UBERON:0002118 | 95.11 | gold quality |
| ovary | UBERON:0000992 | 94.73 | gold quality |
| lower esophagus mucosa | UBERON:0035834 | 94.18 | gold quality |
| right hemisphere of cerebellum | UBERON:0014890 | 93.83 | gold quality |
| cerebellar cortex | UBERON:0002129 | 93.68 | gold quality |
| cerebellar hemisphere | UBERON:0002245 | 93.67 | gold quality |
| cerebellum | UBERON:0002037 | 93.64 | gold quality |
| tibial nerve | UBERON:0001323 | 92.42 | gold quality |
| left uterine tube | UBERON:0001303 | 92.14 | gold quality |
| endocervix | UBERON:0000458 | 91.74 | gold quality |
| body of uterus | UBERON:0009853 | 91.65 | gold quality |
| skin of leg | UBERON:0001511 | 91.54 | gold quality |
| zone of skin | UBERON:0000014 | 91.12 | gold quality |
| uterine cervix | UBERON:0000002 | 91.09 | gold quality |
| esophagus mucosa | UBERON:0002469 | 91.05 | gold quality |
| vagina | UBERON:0000996 | 90.96 | gold quality |
| ectocervix | UBERON:0012249 | 90.87 | gold quality |
| muscle layer of sigmoid colon | UBERON:0035805 | 90.75 | gold quality |
| mucosa of stomach | UBERON:0001199 | 90.72 | gold quality |
| metanephros cortex | UBERON:0010533 | 90.64 | gold quality |
| skin of abdomen | UBERON:0001416 | 90.58 | gold quality |
| myometrium | UBERON:0001296 | 90.55 | gold quality |
| esophagus | UBERON:0001043 | 90.53 | gold quality |
| fundus of stomach | UBERON:0001160 | 90.44 | gold quality |
| esophagogastric junction muscularis propria | UBERON:0035841 | 90.40 | gold quality |
| apex of heart | UBERON:0002098 | 90.38 | gold quality |
| placenta | UBERON:0001987 | 90.25 | gold quality |
| right atrium auricular region | UBERON:0006631 | 90.21 | gold quality |
| lower esophagus | UBERON:0013473 | 90.06 | gold quality |
Single-cell (SCXA)
Detected in 2 experiment(s), a significant marker in 2.
| Experiment | Marker? | Max mean expression |
|---|---|---|
| E-GEOD-100618 | yes | 111.58 |
| E-ANND-3 | yes | 3.80 |
Regulation
Is transcription factor: no
Upstream regulators (CollecTRI, top): E2F1
miRNA regulators (miRDB)
79 targeting PPT2, 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-196A-5P | 100.00 | 68.16 | 684 |
| HSA-MIR-196B-5P | 100.00 | 68.16 | 681 |
| HSA-MIR-4481 | 100.00 | 66.42 | 1669 |
| HSA-MIR-6870-5P | 99.99 | 68.55 | 2115 |
| 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-4723-5P | 99.97 | 68.70 | 2034 |
| HSA-MIR-5698 | 99.97 | 68.49 | 2029 |
| HSA-MIR-7111-5P | 99.97 | 68.48 | 2062 |
| HSA-MIR-6825-5P | 99.96 | 69.81 | 3431 |
| HSA-LET-7D-5P | 99.96 | 71.76 | 1632 |
| HSA-MIR-4458 | 99.96 | 71.64 | 1650 |
| HSA-MIR-4525 | 99.94 | 64.38 | 675 |
| HSA-MIR-5010-5P | 99.94 | 64.11 | 705 |
| HSA-MIR-141-3P | 99.94 | 72.79 | 2421 |
| HSA-MIR-200A-3P | 99.94 | 72.68 | 2420 |
| HSA-MIR-6721-5P | 99.93 | 68.92 | 2981 |
| HSA-MIR-497-5P | 99.92 | 71.83 | 2674 |
| HSA-MIR-15A-5P | 99.90 | 72.80 | 2787 |
| HSA-MIR-15B-5P | 99.90 | 72.78 | 2798 |
| HSA-MIR-16-5P | 99.90 | 72.80 | 2780 |
| HSA-MIR-195-5P | 99.90 | 72.81 | 2805 |
| HSA-MIR-424-5P | 99.89 | 71.90 | 2641 |
Literature-anchored findings (GeneRIF, showing 2)
- The crystal structure of palmitoyl protein thioesterase-2 (PPT2) reveals the basis for divergent substrate specificities of the two lysosomal thioesterases, PPT1 and PPT2. (PMID:12855696)
- We identified that PPT2 on chromosome 6p21 is associated with loss of lung function in the Korean population. (PMID:24387323)
Cross-species orthologs
9 orthologs
| Organism | Symbol | Gene ID |
|---|---|---|
| danio_rerio | ppt2a.2 | ENSDARG00000010782 |
| danio_rerio | ppt2a.3 | ENSDARG00000014208 |
| danio_rerio | ppt2a.1 | ENSDARG00000068840 |
| danio_rerio | ppt2a.5 | ENSDARG00000068846 |
| danio_rerio | ppt2a.4 | ENSDARG00000093176 |
| danio_rerio | ppt2b | ENSDARG00000104542 |
| mus_musculus | Ppt2 | ENSMUSG00000015474 |
| rattus_norvegicus | Ppt2 | ENSRNOG00000000435 |
| drosophila_melanogaster | Ppt2 | FBGN0032358 |
Paralogs (2): PPT1 (ENSG00000131238), DOLPP1 (ENSG00000167130)
Protein
Protein identifiers
Lysosomal thioesterase PPT2 — Q9UMR5 (reviewed: Q9UMR5)
Alternative names: Palmitoyl-protein thioesterase 2, S-thioesterase G14
All UniProt accessions (5): Q9UMR5, A0A1U9X8D2, A2ABN6, A2ABN7, G8JLL2
UniProt curated annotations — full annotation on UniProt →
Function. Catalyzes the cleavage of thioester bonds from S-palmitoyl-CoA or S-palmitoyl-N-acetylcysteamine (unbranched structures) but does not have activity against palmitoylcysteine or palmitoylated proteins, branched structures or bulky head groups. Conversely, hydrolyzes both long and short chain fatty acyl-CoA substrate. Catalytically inactive due to lack of active site His-283.
Subcellular location. Lysosome.
Tissue specificity. Broadly expressed, with highest levels in skeletal muscle.
Similarity. Belongs to the palmitoyl-protein thioesterase family.
Isoforms (3)
| UniProt ID | Names | Canonical? |
|---|---|---|
| Q9UMR5-1 | 1 | yes |
| Q9UMR5-2 | 2, I | |
| Q9UMR5-3 | 3 |
RefSeq proteins (3): NP_001191032, NP_005146, NP_619731 (=MANE)
Domains & families (InterPro)
| ID | Name | Type |
|---|---|---|
| IPR002472 | Palm_thioest | Family |
| IPR029058 | AB_hydrolase_fold | Homologous_superfamily |
Pfam: PF02089
Catalyzed reactions (Rhea), 2 shown:
- hexadecanoyl-CoA + H2O = hexadecanoate + CoA + H(+) (RHEA:16645)
- S-hexadecanoyl-N-acetylcysteamine + H2O = N-acetylcysteamine + hexadecanoate + H(+) (RHEA:84099)
UniProt features (49 total): helix 18, strand 7, glycosylation site 5, mutagenesis site 4, disulfide bond 3, active site 3, splice variant 2, sequence variant 2, turn 2, signal peptide 1, chain 1, sequence conflict 1
Structure
Experimental structures (PDB)
1 structures.
| PDB | Method | Resolution (Å) |
|---|---|---|
| 1PJA | X-RAY DIFFRACTION | 2.7 |
Predicted structure (AlphaFold)
| Model | pLDDT | Fraction very-high |
|---|---|---|
| AF-Q9UMR5-F1 | 92.19 | 0.83 |
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): 111 (nucleophile); 228; 283
Disulfide bonds (3): 109–117, 165–176, 276–296
Glycosylation sites (5): 60, 190, 206, 245, 289
Mutagenesis-validated functional residues (4):
| Position | Phenotype |
|---|---|
| 111 | abolishes palmitoyl-coa hydrolase activity. |
| 228 | abolishes palmitoyl-coa hydrolase activity. |
| 283 | abolishes palmitoyl-coa hydrolase activity. |
| 287 | no effect palmitoyl-coa hydrolase activity. |
Function
Pathways and Gene Ontology
Reactome pathways
1 pathways
| ID | Pathway |
|---|---|
| R-HSA-75105 | Fatty acyl-CoA biosynthesis |
MSigDB gene sets: 224 (showing top):
MODULE_52, YAGI_AML_WITH_INV_16_TRANSLOCATION, GOBP_MACROMOLECULE_DEACYLATION, KEGG_LYSOSOME, GOBP_ORGANOPHOSPHATE_METABOLIC_PROCESS, GOBP_NUCLEOSIDE_PHOSPHATE_BIOSYNTHETIC_PROCESS, GOBP_ORGANOPHOSPHATE_BIOSYNTHETIC_PROCESS, EFC_Q6, PATIL_LIVER_CANCER, GOBP_NUCLEOBASE_CONTAINING_SMALL_MOLECULE_METABOLIC_PROCESS, MAHAJAN_RESPONSE_TO_IL1A_DN, MODULE_118, GOBP_FATTY_ACYL_COA_METABOLIC_PROCESS, MISSIAGLIA_REGULATED_BY_METHYLATION_UP, LIU_VAV3_PROSTATE_CARCINOGENESIS_DN
GO Biological Process (2): fatty-acyl-CoA biosynthetic process (GO:0046949), macromolecule depalmitoylation (GO:0098734)
GO Molecular Function (4): thiolester hydrolase activity (GO:0016790), fatty acyl-CoA hydrolase activity (GO:0047617), palmitoyl hydrolase activity (GO:0098599), hydrolase activity (GO:0016787)
GO Cellular Component (5): extracellular region (GO:0005576), lysosome (GO:0005764), lysosomal lumen (GO:0043202), extracellular exosome (GO:0070062), membrane (GO:0016020)
Reactome top-level categories
Rollup of top-1 pathways:
| Category | Pathways |
|---|---|
| Fatty acid metabolism | 1 |
GO top-level categories
Rollup of top GO terms by namespace:
| Category | Terms |
|---|---|
| cellular anatomical structure | 2 |
| fatty-acyl-CoA metabolic process | 1 |
| acyl-CoA biosynthetic process | 1 |
| fatty acid derivative biosynthetic process | 1 |
| macromolecule deacylation | 1 |
| hydrolase activity, acting on ester bonds | 1 |
| acyl-CoA hydrolase activity | 1 |
| hydrolase activity | 1 |
| macromolecule depalmitoylation | 1 |
| catalytic activity | 1 |
| lytic vacuole | 1 |
| lysosome | 1 |
| vacuolar lumen | 1 |
| extracellular vesicle | 1 |
Protein interactions and networks
STRING
1332 interactions, top by confidence (×1000):
| Protein A | Protein B | Partner UniProt | Score |
|---|---|---|---|
| PPT2 | CLN5 | O75503 | 758 |
| PPT2 | CLN3 | Q13286 | 753 |
| PPT2 | CLN6 | Q9NWW5 | 709 |
| PPT2 | GAP43 | P17677 | 609 |
| PPT2 | SNAP25 | P13795 | 602 |
| PPT2 | GSTCD | Q8NEC7 | 598 |
| PPT2 | STX1A | Q16623 | 586 |
| PPT2 | ABHD17A | Q96GS6 | 586 |
| PPT2 | AGA | P20933 | 585 |
| PPT2 | VAMP2 | P19065 | 585 |
| PPT2 | SV2A | Q7L0J3 | 584 |
| PPT2 | PLA2G4A | P47712 | 576 |
| PPT2 | INTS12 | Q96CB8 | 574 |
| PPT2 | MFSD8 | Q8NHS3 | 558 |
| PPT2 | GAD2 | Q05329 | 552 |
IntAct
15 interactions, top by confidence:
| A | B | Type | Score |
|---|---|---|---|
| FBXO2 | TMEM131L | psi-mi:“MI:0914”(association) | 0.530 |
| UST | GOLIM4 | psi-mi:“MI:0914”(association) | 0.530 |
| CLEC12B | GXYLT2 | psi-mi:“MI:0914”(association) | 0.350 |
| ANGPT4 | POTEF | psi-mi:“MI:0914”(association) | 0.350 |
| CCL3 | KRBA1 | psi-mi:“MI:0914”(association) | 0.350 |
| RLN1 | RTL8C | psi-mi:“MI:0914”(association) | 0.350 |
| IGF2R | MANBA | psi-mi:“MI:0914”(association) | 0.350 |
| TMPRSS13 | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| HPN | TOR1A | psi-mi:“MI:0914”(association) | 0.350 |
| ZNF232 | ZNF197 | psi-mi:“MI:0914”(association) | 0.350 |
| IDS | COCH | psi-mi:“MI:0914”(association) | 0.350 |
| CGA | TRIO | psi-mi:“MI:0914”(association) | 0.350 |
BioGRID (57): PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-RNA), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS), PPT2 (Affinity Capture-MS)
ESM2 similar proteins: A0A0P6JG37, A0A383ZFX3, A5A6P2, F1N2K1, F8J2D3, F8S101, G1T7U7, H0VCJ6, O45686, O77695, P08236, P68827, Q02083, Q09551, Q0P5H1, Q13510, Q17QB3, Q2KIY5, Q3TCN2, Q4QQW8, Q5KTC7, Q5R5N6, Q5R748, Q5RDY9, Q5U2V4, Q5VSG8, Q60HH4, Q642A7, Q69ZQ1, Q6NSJ0, Q6P1J0, Q6P4A8, Q6P7S1, Q6T3U3, Q6T3U4, Q6W3E9, Q6W3F0, Q75UG4, Q7Z4N8, Q8C7K6
Diamond homologs: O35448, O70489, P45479, Q1JQA0, Q20390, Q54CM0, Q6GNY7, Q6PCJ9, Q9UMR5, Q9VKH6, O88531, P45478, P50897, Q8HXW6, Q9W3C7
SIGNOR signaling
0 interactions.
Disease & clinical
Clinical variants and AI predictions
ClinVar
34 variants total. Per-class counts are floors (≥ shown; pagination cap):
| Classification | Count (floor) |
|---|---|
| Pathogenic | 0 |
| Likely pathogenic | 0 |
| Uncertain significance | 30 |
| Likely benign | 2 |
| Benign | 0 |
Top pathogenic / likely-pathogenic (0)
SpliceAI
1647 predictions. Top by Δscore:
| Variant | Effect | Δscore |
|---|---|---|
| 6:32149394:CGCAC:C | acceptor_gain | 1.0000 |
| 6:32149395:GCAC:G | acceptor_gain | 1.0000 |
| 6:32149396:CAC:C | acceptor_gain | 1.0000 |
| 6:32149396:CACC:C | acceptor_gain | 1.0000 |
| 6:32149397:AC:A | acceptor_gain | 1.0000 |
| 6:32149397:ACCTA:A | acceptor_loss | 1.0000 |
| 6:32149398:CC:C | acceptor_gain | 1.0000 |
| 6:32149398:CCTA:C | acceptor_loss | 1.0000 |
| 6:32149399:C:CC | acceptor_gain | 1.0000 |
| 6:32149400:T:A | acceptor_loss | 1.0000 |
| 6:32149402:C:CT | acceptor_gain | 1.0000 |
| 6:32149403:G:T | acceptor_gain | 1.0000 |
| 6:32149532:CCTAC:C | donor_loss | 1.0000 |
| 6:32149533:CTA:C | donor_loss | 1.0000 |
| 6:32149534:TA:T | donor_loss | 1.0000 |
| 6:32149535:A:AC | donor_gain | 1.0000 |
| 6:32149535:ACCT:A | donor_loss | 1.0000 |
| 6:32149536:C:CC | donor_gain | 1.0000 |
| 6:32149536:C:CG | donor_loss | 1.0000 |
| 6:32149666:C:CT | acceptor_gain | 1.0000 |
| 6:32149667:G:T | acceptor_gain | 1.0000 |
| 6:32151804:TTTA:T | donor_loss | 1.0000 |
| 6:32151806:TA:T | donor_loss | 1.0000 |
| 6:32151807:A:T | donor_loss | 1.0000 |
| 6:32151808:C:CA | donor_loss | 1.0000 |
| 6:32151808:CCTGA:C | donor_gain | 1.0000 |
| 6:32153632:GAGTT:G | donor_gain | 1.0000 |
| 6:32153634:GTT:G | donor_gain | 1.0000 |
| 6:32153637:G:GG | donor_gain | 1.0000 |
| 6:32154763:G:GT | donor_gain | 1.0000 |
AlphaMissense
1966 scored. Top likely-pathogenic:
| Variant | Protein change | am_pathogenicity |
|---|---|---|
| 6:32155173:C:G | C109W | 0.999 |
| 6:32155701:C:G | C117W | 0.999 |
| 6:32155964:G:A | C176Y | 0.999 |
| 6:32155974:G:C | W179C | 0.999 |
| 6:32155974:G:T | W179C | 0.999 |
| 6:32155172:G:A | C109Y | 0.998 |
| 6:32155178:C:T | S111L | 0.998 |
| 6:32155699:T:C | C117R | 0.998 |
| 6:32155700:G:A | C117Y | 0.998 |
| 6:32155930:T:C | C165R | 0.998 |
| 6:32155931:G:A | C165Y | 0.998 |
| 6:32155932:C:G | C165W | 0.998 |
| 6:32155963:T:C | C176R | 0.998 |
| 6:32155972:T:A | W179R | 0.998 |
| 6:32155972:T:C | W179R | 0.998 |
| 6:32157897:A:T | D228V | 0.998 |
| 6:32157921:C:T | S236F | 0.998 |
| 6:32154724:G:T | G44W | 0.997 |
| 6:32154725:G:A | G44E | 0.997 |
| 6:32155171:T:C | C109R | 0.997 |
| 6:32155177:T:C | S111P | 0.997 |
| 6:32155183:G:T | G113W | 0.997 |
| 6:32155771:G:A | G141R | 0.997 |
| 6:32155771:G:C | G141R | 0.997 |
| 6:32155965:C:G | C176W | 0.997 |
| 6:32157896:G:C | D228H | 0.997 |
| 6:32154725:G:T | G44V | 0.996 |
| 6:32155081:A:C | S79R | 0.996 |
| 6:32155083:C:A | S79R | 0.996 |
| 6:32155083:C:G | S79R | 0.996 |
dbSNP variants (sampled 300 via entrez): RS1000407887 (6:32159999 C>G,T), RS1000918959 (6:32163153 C>A), RS1000940084 (6:32151594 T>C,G), RS1001259119 (6:32155260 C>A,T), RS1001609327 (6:32156068 T>C), RS1001946289 (6:32153513 T>A,G), RS1002050870 (6:32161811 T>C), RS1002083395 (6:32161438 C>T), RS1002397740 (6:32153171 T>G), RS1002422716 (6:32162700 G>A), RS1002581197 (6:32160468 C>T), RS1002690219 (6:32153471 G>A), RS1002707732 (6:32160765 G>A), RS1002892610 (6:32157773 A>G), RS1003334131 (6:32157382 T>G)
Disease associations
OMIM: gene MIM:603298 | disease phenotypes:
GenCC curated gene-disease
Mondo (0):
Orphanet (0):
HPO phenotypes
0 total (0 of 0 shown, HPO-id order):
GWAS associations
26 associations (top):
| Study | Trait | p-value |
|---|---|---|
| GCST000542_3 | Pulmonary function | 3.000000e-14 |
| GCST001834_3 | Oleic acid (18:1n-9) levels | 1.000000e-06 |
| GCST001942_21 | Prostate cancer | 5.000000e-09 |
| GCST002448_2 | Plasma omega-6 polyunsaturated fatty acid levels (adrenic acid) | 6.000000e-06 |
| GCST002915_5 | Asparaginase hypersensitivity in acute lymphoblastic leukemia | 4.000000e-06 |
| GCST004131_25 | Inflammatory bowel disease | 2.000000e-31 |
| GCST004133_79 | Ulcerative colitis | 5.000000e-65 |
| GCST004521_114 | Autism spectrum disorder or schizophrenia | 3.000000e-17 |
| GCST004521_117 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_118 | Autism spectrum disorder or schizophrenia | 3.000000e-15 |
| GCST004521_126 | Autism spectrum disorder or schizophrenia | 2.000000e-10 |
| GCST004521_154 | Autism spectrum disorder or schizophrenia | 3.000000e-08 |
| GCST004521_17 | Autism spectrum disorder or schizophrenia | 2.000000e-12 |
| GCST004521_170 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_173 | Autism spectrum disorder or schizophrenia | 4.000000e-14 |
| GCST004521_209 | Autism spectrum disorder or schizophrenia | 5.000000e-16 |
| GCST004521_211 | Autism spectrum disorder or schizophrenia | 5.000000e-15 |
| GCST004521_213 | Autism spectrum disorder or schizophrenia | 5.000000e-13 |
| GCST004521_226 | Autism spectrum disorder or schizophrenia | 4.000000e-12 |
| GCST004521_276 | Autism spectrum disorder or schizophrenia | 5.000000e-10 |
| GCST004521_296 | Autism spectrum disorder or schizophrenia | 6.000000e-18 |
| GCST004521_45 | Autism spectrum disorder or schizophrenia | 2.000000e-16 |
| GCST004521_81 | Autism spectrum disorder or schizophrenia | 1.000000e-14 |
| GCST007325_140 | General risk tolerance (MTAG) | 1.000000e-10 |
| GCST008362_153 | Birth weight | 3.000000e-09 |
| GCST008363_48 | Offspring birth weight | 2.000000e-06 |
EFO canonical traits (7, from GWAS)
| EFO ID | Trait name |
|---|---|
| EFO:0003892 | pulmonary function measurement |
| EFO:0004713 | FEV/FVC ratio |
| EFO:0005680 | omega-6 polyunsaturated fatty acid measurement |
| EFO:0004881 | asparaginase hypersensitivity |
| EFO:0008579 | risk-taking behaviour |
| EFO:0004344 | birth weight |
| EFO:0005939 | parental genotype effect measurement |
Drugs & pharmacology
Drug and pharmacology data
Is drug target: yes
ChEMBL targets (1): CHEMBL2189137 (SINGLE PROTEIN)
PharmGKB: 1 entry (VIP=true, CPIC=false)
CTD chemical–gene interactions
23 total (human), top 23 by PubMed support.
| Chemical | Actions (top 5) | PubMed papers |
|---|---|---|
| bisphenol A | decreases expression, decreases methylation | 2 |
| bisphenol S | decreases methylation, affects cotreatment, decreases expression | 2 |
| Doxorubicin | affects expression, increases expression | 2 |
| beta-lapachone | increases expression | 1 |
| tris(1,3-dichloro-2-propyl)phosphate | decreases expression | 1 |
| perfluorooctane sulfonic acid | increases expression | 1 |
| abrine | decreases expression | 1 |
| Air Pollutants | decreases expression, increases abundance | 1 |
| Arsenic | affects methylation | 1 |
| Benzo(a)pyrene | affects methylation | 1 |
| Cisplatin | increases expression | 1 |
| Cytarabine | decreases expression | 1 |
| Dichlorodiphenyl Dichloroethylene | decreases expression | 1 |
| Dexamethasone | affects cotreatment, decreases expression | 1 |
| Indomethacin | decreases expression, affects cotreatment | 1 |
| Mercury | decreases expression | 1 |
| Ouabain | decreases expression | 1 |
| Smoke | decreases expression | 1 |
| Tobacco Smoke Pollution | affects expression | 1 |
| 1-Methyl-3-isobutylxanthine | affects cotreatment, decreases expression | 1 |
| Mifepristone | increases expression | 1 |
| Cyclosporine | decreases expression | 1 |
| Particulate Matter | decreases expression, increases abundance | 1 |
ChEMBL screening assays
1 unique, capped per target: 1 binding
Representative assays (with source publication via chembl_document):
| Assay ID | Type | Description | Source paper |
|---|---|---|---|
| CHEMBL2209149 | Binding | Inhibition of PPT2 binding to FP-biotin in [12C][14N]-lysine, arginine and [13C6][15N2]-lysine, arginine labeled HEK293T cells at 20 uM after 1 hr by isotopic activity-based protein profiling-MudPIT assay | Discovery and optimization of sulfonyl acrylonitriles as selective, covalent inhibitors of protein phosphatase methylesterase-1. — 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.