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Gene

PTH

parathyroid hormone

Summary

Cytogenetic location
11p15.3
Coordinates
Chromosome 11: 13,492,054–13,495,997 (GRCh38)
Exons
3 exons across 3.9 kb
Protein
115 amino acids
Also known as
PTH1
MANE Select transcript
ENST00000282091.6NM_000315.4
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

    • Familial hypoparathyroidism

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

      • 3 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.

      • 3 GenCC submitters rate it definitive or strong

How PTH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where PTH sits. PTH and 5 genes near it on chromosome 11, from 12,994,026 to 13,994,025.Chromosome 1111p15.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2513 Mb13.2 Mb13.4 Mb13.6 Mb13.8 MbRASSF10: 13,009,316–13,012,119, forward strandRASSF10BMAL1: 13,276,647–13,388,048, forward strandBMAL1BTBD10: 13,387,136–13,464,029, reverse strandBTBD10PTH: 13,492,054–13,495,997, reverse strandPTHFAR1: 13,667,462–13,732,367, forward strandFAR1SPON1: 13,962,372–14,268,133, forward strandSPON1Diagram of PTH: 3 exons on the reverse strand of chromosome 11Exon 3: 3 known disease-causing sitesExon 2: 1 known disease-causing siteExon 3: 13,492,054–13,492,666, 613 basesExon 2: 13,492,770–13,492,860, 91 basesExon 1: 13,495,911–13,495,997, 87 bases3215′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 0.8 kb of the gene's 3.9 kb; 348 of those bases code for the protein.

How a genome test reads PTH

4

positions in PTH 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 3.9 kb of PTH, introns included, not only the 0.8 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.). PTH gene: parathyroid hormone. Retrieved 16 October 2026, from https://dantelabs.com/genes/pth

Vancouver

Dante Labs. PTH gene: parathyroid hormone [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pth

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