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Gene

PNP

purine nucleoside phosphorylase

Summary

Cytogenetic location
14q11.2
Coordinates
Chromosome 14: 20,469,406–20,477,089 (GRCh38)
Exons
6 exons across 7.7 kb
Protein
289 amino acids
Also known as
PUNP
Previous symbols
NP
MANE Select transcript
ENST00000361505.10NM_000270.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

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

How PNP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 14, with a bracket where PNP sits. PNP and 34 genes near it on chromosome 14, from 19,973,248 to 20,973,247.Chromosome 1414q11.2p13p12p11.2p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.11q32.12q32.13q32.2q32.31q32.32q32.3320 Mb20.2 Mb20.4 Mb20.6 Mb20.8 MbOR4K15: 19,975,591–19,976,565, forward strandOR4K15OR4Q2: 19,999,913–20,004,760, forward strandOR4Q2OR4K14: 20,014,143–20,019,307, reverse strandOR4K14OR4K13: 20,029,399–20,036,038, reverse strandOR4K13OR4L1: 20,060,045–20,060,983, forward strandOR4L1OR4K17: 20,110,739–20,122,199, forward strandOR4K17OR4N5: 20,138,820–20,145,471, forward strandOR4N5OR11G2: 20,190,896–20,201,075, forward strandOR11G2OR11H6: 20,223,710–20,224,702, forward strandOR11H6OR11H7: 20,229,402–20,230,346, forward strandOR11H7OR11H4: 20,239,286–20,244,349, forward strandOR11H4TTC5: 20,256,558–20,305,968, reverse strandTTC5CCNB1IP1: 20,311,353–20,333,317, reverse strandCCNB1IP1PARP2: 20,343,541–20,362,074, forward strandPARP2TEP1: 20,365,667–20,413,507, reverse strandTEP1KLHL33: 20,425,852–20,436,169, reverse strandOSGEP: 20,446,401–20,455,089, reverse strandOSGEPAPEX1: 20,454,525–20,458,036, forward strandAPEX1PIP4P1: 20,457,656–20,461,617, reverse strandPIP4P1PNP: 20,469,406–20,477,089, forward strandPNPRNASE10: 20,505,537–20,513,884, forward strandRNASE9: 20,556,093–20,561,049, reverse strandRNASE9: 20,582,892–20,609,795, reverse strandRNASE11: 20,582,892–20,609,884, reverse strandRNASE11RNASE12: 20,590,073–20,591,376, reverse strandRNASE12OR6S1: 20,640,696–20,641,691, reverse strandOR6S1RNASE4: 20,681,073–20,701,216, forward strandRNASE4ANG: 20,682,866–20,698,971, forward strandANG: 20,684,587–20,700,576, forward strandEDDM3A: 20,745,887–20,748,380, forward strandEDDM3AEDDM3B: 20,768,404–20,770,948, forward strandEDDM3BRNASE6: 20,781,031–20,783,793, forward strandRNASE6RNASE1: 20,801,228–20,802,884, reverse strandRNASE1RNASE3: 20,882,394–20,892,348, forward strandRNASE3RNASE2: 20,955,345–20,956,436, forward strandRNASE2Diagram of PNP: 6 exons on the forward strand of chromosome 14Exon 2: 8 known disease-causing sitesExon 3: 4 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 1: 20,469,406–20,469,535, 130 basesExon 2: 20,472,308–20,472,477, 170 basesExon 3: 20,474,472–20,474,575, 104 basesExon 4: 20,474,773–20,474,948, 176 basesExon 5: 20,475,062–20,475,252, 191 basesExon 6: 20,476,384–20,477,089, 706 bases1234565′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 1.5 kb of the gene's 7.7 kb; 870 of those bases code for the protein.

Sequencing PNP

36

positions in PNP 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 7.7 kb of PNP, introns included, not only the 1.5 kb of exons.

Traits linked to PNP

The Human Phenotype Ontology lists these as features of the rare conditions PNP 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 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). PNP gene: purine nucleoside phosphorylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/pnp

Vancouver

Dante Labs. PNP gene: purine nucleoside phosphorylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pnp

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