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Gene

PTRH2

peptidyl-tRNA hydrolase 2

Summary

Cytogenetic location
17q23.1
Coordinates
Chromosome 17: 59,697,308–59,707,430 (GRCh38)
Exons
2 exons across 10.1 kb
Protein
179 amino acids
Also known as
BIT1, CGI-147, PTH2, CFAP37
MANE Select transcript
ENST00000393038.3NM_016077.5
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

No Genome Test report reads PTRH2 yet. The test sequences your whole genome, so your data includes it all the same.

How PTRH2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where PTRH2 sits. PTRH2 and 15 genes near it on chromosome 17, from 59,202,369 to 60,202,368.Chromosome 1717q23.1p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.359.4 Mb59.6 Mb59.8 Mb60 Mb60.2 MbPRR11: 59,155,732–59,206,709, forward strandPRR11: 59,197,566–59,215,226, forward strandSMG8: 59,209,400–59,215,249, forward strandSMG8GDPD1: 59,220,467–59,275,970, forward strandGDPD1YPEL2: 59,331,591–59,401,729, forward strandYPEL2DHX40: 59,565,558–59,611,563, forward strandDHX40CLTC: 59,619,606–59,696,956, forward strandCLTCPTRH2: 59,697,308–59,707,430, reverse strandPTRH2VMP1: 59,707,192–59,842,255, forward strandVMP1TUBD1: 59,859,038–59,892,951, reverse strandTUBD1RPS6KB1: 59,893,035–59,963,336, forward strandRPS6KB1RNFT1: 59,896,781–59,964,777, reverse strandRNFT1: 59,940,908–59,973,101, forward strandHEATR6: 60,041,008–60,078,933, reverse strandHEATR6CA4: 60,147,838–60,178,085, forward strandCA4USP32: 60,177,184–60,422,470, reverse strandUSP32Diagram of PTRH2: 2 exons on the reverse strand of chromosome 17Exon 2: 5 known disease-causing sitesExon 2: 59,697,308–59,697,978, 671 basesExon 1: 59,707,371–59,707,430, 60 bases215′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 0.7 kb of the gene's 10.1 kb; 540 of those bases code for the protein.

Sequencing PTRH2

5

positions in PTRH2 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 10.1 kb of PTRH2, introns included, not only the 0.7 kb of exons.

ClinVar pathogenic variants (5)

The PTRH2 variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic 3
  • Likely pathogenic 2
VariantConditionsClinVar classificationReview status
NM_016077.5(PTRH2):c.254A>C (p.Gln85Pro) (opens in a new tab)neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset and 1 otherPathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_016077.5(PTRH2):c.323G>A (p.Trp108Ter) (opens in a new tab)neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1Pathogenic1 star out of 4 criteria provided, single submitter
NM_016077.5(PTRH2):c.269_270del (p.Ala90fs) (opens in a new tab)neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1Pathogenic1 star out of 4 criteria provided, single submitter
NM_016077.5(PTRH2):c.100C>T (p.Arg34Ter) (opens in a new tab)neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1Likely pathogenic1 star out of 4 criteria provided, single submitter
NM_016077.5(PTRH2):c.92G>A (p.Trp31Ter) (opens in a new tab)neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1Likely pathogenic1 star out of 4 criteria provided, single submitter

Traits linked to PTRH2

The Human Phenotype Ontology lists these as features of the rare conditions PTRH2 can cause. Each trait's page lists the other genes linked to it.

External links

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 2026.10.18-8b139e39.

Cite this page

APA

Dante Labs. (n.d.). PTRH2 gene: peptidyl-tRNA hydrolase 2. Retrieved 19 October 2026, from https://dantelabs.com/genes/ptrh2

Vancouver

Dante Labs. PTRH2 gene: peptidyl-tRNA hydrolase 2 [Internet]. [cited 19 October 2026]. Available from: https://dantelabs.com/genes/ptrh2

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