PTH2R (parathyroid hormone 2 receptor)

2017-04-01  

Identity

HGNC
LOCATION
2q34
LOCUSID
ALIAS
PTHR2
FUSION GENES

Other Information

Locus ID:

NCBI: 5746
MIM: 601469
HGNC: 9609
Ensembl: ENSG00000144407

Variants:

dbSNP: 5746
ClinVar: 5746
TCGA: ENSG00000144407
COSMIC: PTH2R

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000144407ENST00000272847P49190
ENSG00000144407ENST00000419079H7C0B0
ENSG00000144407ENST00000617735B4DFN8

Expression (GTEx)

0
1
2
3
4
5
6

Pathways

PathwaySourceExternal ID
Neuroactive ligand-receptor interactionKEGGko04080
Neuroactive ligand-receptor interactionKEGGhsa04080
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR ligand bindingREACTOMER-HSA-500792
Class B/2 (Secretin family receptors)REACTOMER-HSA-373080
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (s) signalling eventsREACTOMER-HSA-418555

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
343539042021Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2.16
343539042021Molecular insights into differentiated ligand recognition of the human parathyroid hormone receptor 2.16
280948862017The parathyroid hormone family member TIP39 interacts with sarco/endoplasmic reticulum Ca(2+) - ATPase activity by influencing calcium homoeostasis.0
280948862017The parathyroid hormone family member TIP39 interacts with sarco/endoplasmic reticulum Ca(2+) - ATPase activity by influencing calcium homoeostasis.0
270005022016The Parathyroid Hormone Second Receptor PTH2R and its Ligand Tuberoinfundibular Peptide of 39 Residues TIP39 Regulate Intracellular Calcium and Influence Keratinocyte Differentiation.8
270005022016The Parathyroid Hormone Second Receptor PTH2R and its Ligand Tuberoinfundibular Peptide of 39 Residues TIP39 Regulate Intracellular Calcium and Influence Keratinocyte Differentiation.8
243789252015Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.4
260448102015Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.5
243789252015Variation in the PTH2R gene is associated with age-related degenerative changes in the lumbar spine.4
260448102015Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement.5
230929132012Defective postnatal endochondral bone development by chondrocyte-specific targeted expression of parathyroid hormone type 2 receptor.4
230929132012Defective postnatal endochondral bone development by chondrocyte-specific targeted expression of parathyroid hormone type 2 receptor.4
217569422011PTH-receptors regulate norepinephrine release in human heart and kidney.7
217569422011PTH-receptors regulate norepinephrine release in human heart and kidney.7
194012152009Parathyroid hormone 2 receptor and its endogenous ligand tuberoinfundibular peptide of 39 residues are concentrated in endocrine, viscerosensory and auditory brain regions in macaque and human.26

Citation

Dessen P

PTH2R (parathyroid hormone 2 receptor)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56802/pth2r-(parathyroid-hormone-2-receptor)