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Gene

CASR

calcium sensing receptor

Summary

Cytogenetic location
3q13.33-q21.1
Coordinates
Chromosome 3: 122,183,668–122,291,629 (GRCh38)
Exons
7 exons across 108 kb
Protein
1,078 amino acids
Inheritance
Autosomal dominant Autosomal recessive
Also known as
FHH, NSHPT, GPRC2A
Previous symbols
HHC, HHC1
MANE Select transcript
ENST00000639785.2NM_000388.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Inherited Parathyroid & Calcium-Sensing Disorders

    • Neonatal severe primary hyperparathyroidismAutosomal recessive

      Life-threatening very high blood calcium in newborns, usually caused by variants in both copies of CASR.

      • ClinGen rates the link definitive
      • 2 GenCC submitters rate it definitive or strong
    • Familial hypocalciuric hypercalcaemiaAutosomal dominant

      Lifelong, usually harmless mildly high blood calcium with low urine calcium, caused by reduced calcium sensing (CASR, GNA11, AP2S1).

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      Recognising it avoids unnecessary parathyroid surgery, which does not cure it.

    • Familial hypoparathyroidism

      Low parathyroid hormone and low blood calcium, including autosomal dominant hypocalcaemia caused by overactive calcium sensing.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong
      What knowing changes

      In autosomal dominant hypocalcaemia, standard calcium and vitamin D treatment can worsen kidney calcium loss, so treatment needs specialist adjustment.

  • Thyroid Cancer

    • Parathyroid Gland Disorder

      A disease involving the parathyroid gland.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How CASR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where CASR sits. CASR and 16 genes near it on chromosome 3, from 121,737,649 to 122,737,648.Chromosome 33q13.33-q21.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29121.8 Mb122 Mb122.2 Mb122.4 Mb122.6 MbGOLGB1: 121,663,189–121,749,966, reverse strandGOLGB1IQCB1: 121,769,398–121,835,093, reverse strandIQCB1EAF2: 121,835,164–121,888,073, forward strandEAF2SLC15A2: 121,894,355–121,944,188, forward strandSLC15A2ILDR1: 121,987,322–122,022,282, reverse strandILDR1CD86: 122,055,356–122,121,557, forward strandCD86CASR: 122,183,668–122,291,629, forward strandCASRCSTA: 122,325,238–122,359,856, forward strandCSTAMIX23: 122,338,391–122,383,276, reverse strandMIX23FAM162A: 122,384,161–122,412,334, forward strandFAM162AWDR5B: 122,411,846–122,416,464, reverse strandWDR5BKPNA1: 122,421,902–122,514,955, reverse strandKPNA1PARP9: 122,527,910–122,565,478, reverse strandPARP9DTX3L: 122,564,228–122,575,203, forward strandDTX3LPARP15: 122,577,597–122,639,047, forward strandPARP15PARP14: 122,680,212–122,730,840, forward strandPARP14HSPBAP1: 122,719,877–122,795,035, reverse strandHSPBAP1Diagram of CASR: 7 exons on the forward strand of chromosome 3Exon 2: 21 known disease-causing sitesExon 3: 33 known disease-causing sitesExon 4: 63 known disease-causing sitesExon 5: 13 known disease-causing sitesExon 6: 13 known disease-causing sitesExon 7: 84 known disease-causing sitesExon 1: 122,183,668–122,183,812, 145 basesExon 2: 122,253,948–122,254,374, 427 basesExon 3: 122,257,081–122,257,387, 307 basesExon 4: 122,261,528–122,262,412, 885 basesExon 5: 122,275,812–122,276,042, 231 basesExon 6: 122,282,113–122,282,236, 124 basesExon 7: 122,283,687–122,291,629, 7,943 bases12345675′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 10.1 kb of the gene's 108 kb; 3,237 of those bases code for the protein.

How a genome test reads CASR

243

positions in CASR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 108 kb of CASR, introns included, not only the 10.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). CASR gene: calcium sensing receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/casr

Vancouver

Dante Labs. CASR gene: calcium sensing receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/casr

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