PTH2 Gene - Parathyroid Hormone 2
Comprehensive genomic and functional overview of PTH2, a neuropeptide hormone gene.
Gene Information Card
| Symbol | PTH2 |
|---|---|
| Full Name | Parathyroid Hormone 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.33 |
| NCBI Gene ID | 5743 ncbi.nlm.nih.gov/gene/5743 |
| Ensembl ID | ENSG00000142539 |
| UniProt ID | Q96A98 |
| OMIM ID | 601976 |
| HGNC ID | 9607 |
| Aliases | TIP39, TIP39_HUMAN |
Description
PTH2 (parathyroid hormone 2) encodes a neuropeptide precursor protein that is cleaved to produce tuberoinfundibular peptide of 39 residues (TIP39). TIP39 acts as a ligand for the parathyroid hormone 2 receptor (PTH2R) and is involved in nociception, stress response, and neuroendocrine regulation. The gene is expressed primarily in the brain and spinal cord.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Chronic pain disorders | Altered TIP39 signaling via PTH2R may modulate pain perception | PMID: 12060745 |
| Stress-related psychiatric conditions | PTH2 expression changes in hypothalamic-pituitary-adrenal axis | PMID: 15163632 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 0.8 | Low |
| Spinal cord | 1.2 | Low |
| Testis | 0.3 | Not detected |
| Heart | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 0.5 | Low expression |
| U-87 MG (glioblastoma) | 0.2 | Very low |
| HEK293 (embryonic kidney) | 0.0 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Likely loss of start codon; functional impact unknown |
| c.124C>T (p.Arg42Cys) | missense | <0.01% | Rare variant; no disease association reported |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations described.
Dominant Negative (DN)
Not applicable.
View complete mutation data：
Gene Ontology (GO)
| • hormone activity (GO:0005179) | • extracellular region (GO:0005576) |
| • neuropeptide signaling pathway (GO:0007218) | • peptide hormone secretion (GO:0030072) |
Pathways
• GPCR ligand binding (PTH2R signaling)
• Neuropeptide signaling pathway
Protein Summary
The PTH2 gene encodes a 100-amino-acid preproprotein that is processed to yield the mature 39-residue TIP39 peptide. TIP39 is a selective agonist of the PTH2 receptor (PTH2R) and is involved in modulating pain, stress, and neuroendocrine functions. The protein is predominantly expressed in the central nervous system.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTH2R Knockout HEK293 Cell Line | EDJ-KQ5589 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout HEK293 Cell Line | EDJ-KQ7407 | Human | 113091 | Details Get a Quote |
| PTH2R Knockout HeLa Cell Line | EDJ-KQ54264 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout HeLa Cell Line | EDJ-KQ57903 | Human | 113091 | Details Get a Quote |
| PTH2R Knockout A-549 Cell Line | EDJ-KQ62756 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout A-549 Cell Line | EDJ-KQ66396 | Human | 113091 | Details Get a Quote |
| PTH2R Knockout HCT 116 Cell Line | EDJ-KQ71225 | Human | 5746 | Details Get a Quote |
| PTH2 Knockout HCT 116 Cell Line | EDJ-KQ74822 | Human | 113091 | Details Get a Quote |
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