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Gene

PTHLH

parathyroid hormone like hormone

Summary

Cytogenetic location
12p11.22
Coordinates
Chromosome 12: 27,958,084–27,972,733 (GRCh38)
Exons
6 exons across 14.7 kb
Protein
177 amino acids
Also known as
PTHRP, HHM, PLP, PTHR
MANE Select transcript
ENST00000545234.6NM_198965.2
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

No Genome Test report reads PTHLH yet. The test sequences your whole genome, so your data includes it all the same.

How PTHLH is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 12, with a bracket where PTHLH sits. PTHLH and 7 genes near it on chromosome 12, from 27,465,409 to 28,465,408.Chromosome 1212p11.22p13.33p13.32p13.31p13.2p13.1p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11q12q13.11q13.12q13.13q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.31q24.32q24.3327.6 Mb27.8 Mb28 Mb28.2 Mb28.4 MbSMCO2: 27,446,736–27,502,873, forward strandSMCO2PPFIBP1: 27,523,431–27,696,302, forward strandPPFIBP1REP15: 27,696,447–27,697,596, forward strandREP15MRPS35: 27,710,796–27,756,301, forward strandMRPS35MANSC4: 27,762,291–27,780,236, reverse strandMANSC4KLHL42: 27,779,415–27,803,040, forward strandKLHL42PTHLH: 27,958,084–27,972,733, reverse strandPTHLHCCDC91: 28,133,249–28,581,511, forward strandCCDC91Diagram of PTHLH: 6 exons on the reverse strand of chromosome 12Exon 5: 4 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 6: 27,958,084–27,958,568, 485 basesExon 5: 27,963,348–27,963,770, 423 basesExon 4: 27,969,394–27,969,516, 123 basesExon 3: 27,970,025–27,970,267, 243 basesExon 2: 27,971,927–27,972,019, 93 basesExon 1: 27,972,523–27,972,733, 211 bases6543215′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 1.6 kb of the gene's 14.7 kb; 534 of those bases code for the protein.

How a genome test reads PTHLH

8

positions in PTHLH 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 14.7 kb of PTHLH, introns included, not only the 1.6 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.
  • 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.). PTHLH gene: parathyroid hormone like hormone. Retrieved 17 October 2026, from https://dantelabs.com/genes/pthlh

Vancouver

Dante Labs. PTHLH gene: parathyroid hormone like hormone [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pthlh

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