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Gene

PTH1R

parathyroid hormone 1 receptor

Summary

Cytogenetic location
3p21.31
Coordinates
Chromosome 3: 46,877,721–46,903,799 (GRCh38)
Exons
16 exons across 26.1 kb
Protein
593 amino acids
Inheritance
Autosomal dominant
Previous symbols
PTHR, PTHR1
MANE Select transcript
ENST00000449590.6NM_000316.3
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 report relevant to this gene

  • Primary Failure of Tooth Eruption

    • Autosomal dominant

      Failure of one or more teeth, usually molars, to erupt fully despite a clear eruption path, caused by PTH1R variants with variable expression.

      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Knowing before orthodontic treatment can avoid unsuccessful attempts to pull affected teeth into place, which can cause them to fuse to the bone.

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.

How PTH1R 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 PTH1R sits. PTH1R and 18 genes near it on chromosome 3, from 46,390,760 to 47,390,759.Chromosome 33p21.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2946.4 Mb46.6 Mb46.8 Mb47 Mb47.2 MbCCRL2: 46,407,144–46,412,997, forward strandCCRL2LTF: 46,434,347–46,485,234, reverse strandLTFRTP3: 46,494,611–46,501,506, forward strandRTP3LRRC2: 46,510,358–46,607,097, reverse strandLRRC2CRIPTO: 46,573,633–46,584,684, forward strandCRIPTO: 46,581,150–46,617,226, forward strandFAM240A: 46,612,525–46,626,543, forward strandFAM240AALS2CL: 46,668,994–46,694,071, reverse strandALS2CLTMIE: 46,694,528–46,710,886, forward strandTMIE: 46,712,115–46,812,574, reverse strandPRSS50: 46,712,117–46,717,869, reverse strandPRSS50MYL3: 46,835,109–46,885,911, reverse strandMYL3PTH1R: 46,877,721–46,903,799, forward strandPTH1RCCDC12: 46,916,634–46,982,010, reverse strandCCDC12NBEAL2: 46,979,660–47,009,707, forward strandNBEAL2SETD2: 47,016,428–47,164,148, reverse strandSETD2KIF9: 47,227,426–47,283,451, reverse strandKIF9KLHL18: 47,282,628–47,346,819, forward strandKLHL18PTPN23: 47,381,011–47,413,442, forward strandPTPN23Diagram of PTH1R: 16 exons on the forward strand of chromosome 3Exon 3: 1 known disease-causing siteExon 6: 2 known disease-causing sitesExon 8: 1 known disease-causing siteExon 9: 4 known disease-causing sitesExon 10: 2 known disease-causing sitesExon 14: 1 known disease-causing siteExon 15: 1 known disease-causing siteExon 1: 46,877,721–46,877,843, 123 basesExon 2: 46,881,062–46,881,118, 57 basesExon 3: 46,883,512–46,883,634, 123 basesExon 4: 46,893,907–46,894,009, 103 basesExon 5: 46,895,735–46,895,869, 135 basesExon 6: 46,897,855–46,897,965, 111 basesExon 7: 46,898,074–46,898,192, 119 basesExon 8: 46,898,378–46,898,472, 95 basesExon 9: 46,898,662–46,898,857, 196 basesExon 10: 46,899,303–46,899,456, 154 basesExon 11: 46,901,025–46,901,085, 61 basesExon 12: 46,901,414–46,901,480, 67 basesExon 13: 46,901,766–46,901,860, 95 basesExon 14: 46,902,526–46,902,667, 142 basesExon 15: 46,902,749–46,902,790, 42 basesExon 16: 46,903,270–46,903,799, 530 bases12468101214165′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 2.2 kb of the gene's 26.1 kb; 1,782 of those bases code for the protein.

How a genome test reads PTH1R

15

positions in PTH1R 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 26.1 kb of PTH1R, introns included, not only the 2.2 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.). PTH1R gene: parathyroid hormone 1 receptor. Retrieved 16 October 2026, from https://dantelabs.com/genes/pth1r

Vancouver

Dante Labs. PTH1R gene: parathyroid hormone 1 receptor [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pth1r

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