GENE REFERENCE / HGNC:1514

CASR

calcium sensing receptor

protein-coding gene3q13.33-q21.1Gene information

What does this gene do?

The CASR gene provides instructions for making a protein called the calcium-sensing receptor (CaSR). Calcium molecules bind to CaSR, which allows this protein to monitor and regulate the amount of calcium in the blood.

The CaSR protein is found in cells of the parathyroid glands. The four parathyroid glands are located in the neck. These glands produce and release a hormone called parathyroid hormone, which regulates the levels of calcium in the blood. When blood calcium levels are high, calcium binds to CaSR in the parathyroid glands and blocks the production of parathyroid hormone. Without parathyroid hormone, calcium is not released into the blood. CaSR signaling also blocks the growth and division (proliferation) of the cells that make up the parathyroid glands.

The CaSR protein is also found in kidney cells. Kidneys filter fluid and waste products in the body and can reabsorb needed nutrients and release them back into the blood. When calcium binds to CaSR in kidney cells, it blocks the reabsorption of calcium and allows it to be released in the urine.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-01-23. Source review: 2026-01.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
neonatal severe primary hyperparathyroidismMONDO:0009397 · Evaluated 2023-07-20	Autosomal recessive	DefinitiveTubulopathy Gene Curation Expert Panel
familial hypocalciuric hypercalcemia 1MONDO:0007791 · Evaluated 2023-07-20	Autosomal dominant	DefinitiveTubulopathy Gene Curation Expert Panel
epilepsyMONDO:0005027 · Evaluated 2025-11-18	Autosomal dominant	RefutedEpilepsy Gene Curation Expert Panel
autosomal dominant hypocalcemia 1MONDO:0011013 · Evaluated 2023-07-20	Autosomal dominant	DefinitiveTubulopathy Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 3,220
Submissions for variants in or overlapping this gene: 5,777
Submissions explicitly reporting this gene: 5,696
Alleles reported pathogenic / likely pathogenic: 364
VariationIDs with uncertain significance: 1,601
VariationIDs with conflicting classifications: 218

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about CASR?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 364 alleles in CASR reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in CASR.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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