PTH2R Chromosome 2
Parathyroid hormone 2 receptor
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What This Gene Does
The protein encoded by this gene is a member of the G-protein coupled receptor 2 family. This protein is a receptor for parathyroid hormone (PTH). This receptor is more selective in ligand recognition and has a more specific tissue distribution compared to parathyroid hormone receptor 1 (PTHR1). It is activated only by PTH and not by parathyroid hormone-like hormone (PTHLH) and is particularly abundant in brain and pancreas. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
Parathyroid hormone receptors
Locus Type
gene with protein product
Location
2q34
Ensembl
ENSG00000144407
Associated Conditions (1)
Syndromic intellectual disability
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1553546045 | Health Risk | Likely pathogenic | Syndromic intellectual disability, Syndromic intellectual disability |