PTER (Phosphotriesterase Related)
Gene encoding a phosphotriesterase-related protein with potential roles in metabolic and neurological processes
Gene Information Card
| Symbol | PTER |
|---|---|
| Full Name | Phosphotriesterase Related |
| Gene Type | protein-coding |
| Chromosomal Location | 10p12.1 |
| NCBI Gene ID | 9317 ncbi.nlm.nih.gov/gene/9317 |
| Ensembl ID | ENSG00000138160 |
| UniProt ID | Q96BW5 |
| OMIM ID | 610318 |
| HGNC ID | 9590 |
| Aliases | HPTER, PTE, PTE1 |
Description
The PTER gene encodes a protein related to phosphotriesterase enzymes, which hydrolyze organophosphate compounds. The protein is expressed in multiple tissues and may be involved in detoxification, metabolic regulation, and neurological function. Variants in PTER have been associated with altered enzyme activity and potential links to disease.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Altered phosphotriesterase activity affecting neurotransmitter metabolism | ClinVar, OMIM |
| Metabolic syndrome | Potential role in lipid and xenobiotic metabolism | NCBI Gene, UniProt |
| Cancer | Dysregulation of PTER expression in tumor tissues | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Brain | 6.7 | Low |
| Lung | 4.2 | Low |
| Heart | 3.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma |
| HEK293 | 10.8 | Embryonic kidney |
| SH-SY5Y | 7.4 | Neuroblastoma |
| A549 | 5.1 | Lung carcinoma |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.001 | Reduced enzyme activity |
| c.245C>T | nonsense | 0.0005 | Premature truncation |
| c.367G>A | missense | 0.002 | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift variants leading to truncated protein or reduced catalytic activity
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • phosphotriesterase activity | • hydrolase activity |
| • metal ion binding | • cellular response to xenobiotic stimulus |
Pathways
• Organophosphate detoxification
• Xenobiotic metabolism
Protein Summary
The PTER protein is a 338-amino acid phosphotriesterase-related enzyme that hydrolyzes organophosphate esters. It contains a conserved metal-binding site and is localized to the cytoplasm. The protein is expressed in liver, kidney, and brain, and may play a role in detoxification and metabolic regulation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTER Knockout HEK293 Cell Line | EDJ-KQ5878 | Human | 9317 | Details Get a Quote |
| PTER Knockout A-549 Cell Line | EDJ-KQ30717 | Human | 9317 | Details Get a Quote |
| PTER Knockout HCT 116 Cell Line | EDJ-KQ30718 | Human | 9317 | Details Get a Quote |
| PTER Knockout HeLa Cell Line | EDJ-KQ30719 | Human | 9317 | Details Get a Quote |
