• Gene id: 113091

Gene Summary

• Gene Symbol: PTH2   Gene   UCSC   Ensembl
• Aliases: TIP39
• Gene name: parathyroid hormone 2
• Alternate names: tuberoinfundibular peptide of 39 residues, tuberoinfundibular 39 residue protein,
• Gene location: 19q13.33 (49423440: 49422418)     Exons: 2     NC_000019.10
• Gene summary(Entrez): This gene encodes the precursor of a peptide hormone that shares sequence similarity with the parathyroid hormone. This gene is expressed in various regions of the brain where it plays a role in the release of pituitary hormones, anxiety and nociception.
• OMIM: 608386

Protein Summary

• Protein general information: Q96A98  
  • Name: Tuberoinfundibular peptide of 39 residues (TIP39) (Parathyroid hormone 2)
  • Length: 100  
  • Mass: 11202
  • Tissue specificity: Highly expressed in fetal and adult brain, cerebellum and trachea. Weakly expressed in spinal cord, fetal liver, kidney and heart. {ECO
• Sequence:

  METRQVSRSPRVRLLLLLLLLLVVPWGVRTASGVALPPVGVLSLRPPGRAWADPATPRPRRSLALADDAAFRERA
  RLLAALERRHWLNSYMHKLLVLDAP

• Structural information:
  • Interpro: IPR029396  
  • STRING: ENSP00000270631
• Other Databases: GeneCards:  PTH2  Malacards:  PTH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005576	extracellular region	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0007218	neuropeptide signaling pathway	IEA	biological process
GO:0007186	G protein-coupled receptor signaling pathway	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04080	Neuroactive ligand-receptor interaction

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq