CASR Chromosome 3
Calcium sensing receptor
Upload your DNA to see your personal genotypes for variants in CASR.
What This Gene Does
The protein encoded by this gene is a plasma membrane G protein-coupled receptor that senses small changes in circulating calcium concentration. The encoded protein couples this information to intracellular signaling pathways that modify parathyroid hormone secretion or renal cation handling, and thus this protein plays an essential role in maintaining mineral ion homeostasis. Mutations in this gene are a cause of familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Calcium sensing receptors
Locus Type
gene with protein product
Location
3q13.33-q21.1
Ensembl
ENSG00000036828
Associated Conditions (26)
Familial hypocalciuric hypercalcemia 1
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Autosomal dominant hypocalcemia 1
Epilepsy
idiopathic generalized
susceptibility to
8
CASR-related disorder
Nephrolithiasis/nephrocalcinosis
Familial hypoparathyroidism
Hereditary cancer-predisposing syndrome
See cases
Bartter syndrome with hypocalcemia
Prostate cancer
Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
Hypercalcemia
Autosomal dominant hypocalcemia
Inborn genetic diseases
Neurodevelopmental disorder
+6 more conditions
Key Variants
RS104893689
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism, Familial hypocalciuric hypercalcemia
Health Risk
RS104893691
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 1, Nephrolithiasis/nephrocalcinosis, Autosomal dominant hypocalcemia 1
Health Risk
RS1057518616
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
Health Risk
RS1057520583
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
Health Risk
RS1060502842
Conflicting classifications of pathogenicity
Health Risk
RS1060502848
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Nephrolithiasis/nephrocalcinosis
Health Risk
RS1060502849
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Familial hypocalciuric hypercalcemia 1
Health Risk
RS1064794290
Conflicting classifications of pathogenicity
Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Nephrolithiasis/nephrocalcinosis
Health Risk
RS1064794291
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Epilepsy
Health Risk
RS1064794676
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, CASR-related disorder
Health Risk
RS1064797049
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
Health Risk
RS112042188
Conflicting classifications of pathogenicity
Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1, Neonatal severe primary hyperparathyroidism
Health Risk
All Variants (407)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2107632061 | Health Risk | Pathogenic/Likely pathogenic | Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS2107649885 | Health Risk | Pathogenic/Likely pathogenic | Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Neonatal severe primary hyperparathyroidism |
| RS2107650603 | Health Risk | Pathogenic/Likely pathogenic | Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia 1 |
| RS2473277536 | Health Risk | Pathogenic/Likely pathogenic | Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS28936684 | Health Risk | Pathogenic/Likely pathogenic | Neonatal severe primary hyperparathyroidism, Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia |
| RS769256610 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Nephrolithiasis/nephrocalcinosis |
| RS773146939 | Health Risk | Pathogenic/Likely pathogenic | Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia, Epilepsy |