Metazoan complexes |
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Emili & Marcotte labs |
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Details of CASR gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CASR | GPRC2A,PCAR1 | P41180 | CASR_HUMAN | 846 | ENSG00000036828 | Extracellular calcium-sensing receptor | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Note=Homozygous defects in CASR can be a cause of primary hyperparathyroidism in adulthood. Patients suffer from osteoporosis and renal calculi, have marked hypercalcemia and increased serum PTH concentrations. | 612899 | Familial isolated hypoparathyroidism (FIH) [MIM:146200]: Characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. An autosomal recessive form of FIH also exists. Note=The disease is caused by mutations affecting the gene represented in this entry. | 146200 | Epilepsy, idiopathic generalized 8 (EIG8) [MIM:612899]: A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Seizure types are variable, but include myoclonic seizures, absence seizures, febrile seizures, complex partial seizures, and generalized tonic-clonic seizures. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 612899 | Hypocalciuric hypercalcemia, familial 1 (HHC1) [MIM:145980]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. Note=The disease is caused by mutations affecting the gene represented in this entry. | 145980 | Neonatal severe primary hyperparathyroidism (NSHPT) [MIM:239200]: Rare autosomal recessive life-threatening disorder characterized by very high serum calcium concentrations, skeletal demineralization, and parathyroid hyperplasia. In some instances NSHPT has been demonstrated to be the homozygous form of FHH. Note=The disease is caused by mutations affecting the gene represented in this entry. | 239200 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Casr | --- | --- | Sp-Casr |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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