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Gene

TYMP

thymidine phosphorylase

Summary

Cytogenetic location
22q13.33
Coordinates
Chromosome 22: 50,525,752–50,530,012 (GRCh38)
Exons
10 exons across 4.3 kb
Protein
482 amino acids
Previous symbols
MNGIE, ECGF1
MANE Select transcript
ENST00000252029.8NM_001953.5
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Primary Mitochondrial Disease

    • Mitochondrial DNA Depletion Syndrome

      Caused by variants in nuclear genes such as POLG, TWNK, TK2, DGUOK, MPV17, RRM2B and SUCLA2, which reduce the amount of mitochondrial DNA and can cause muscle, liver or brain disease.

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

      Knowing is directly actionable: valproate must be avoided in POLG disease because of the risk of fatal liver failure, and TK2 deficiency has a nucleoside therapy.

How TYMP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
Chromosome 22, with a bracket where TYMP sits. TYMP and 30 genes near it on chromosome 22, from 50,027,882 to 51,027,881.Chromosome 2222q13.33p13p12p11.2p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.31q13.32q13.3350.2 Mb50.4 Mb50.6 Mb50.8 Mb51 MbTTLL8: 50,018,575–50,058,298, reverse strandTTLL8MLC1: 50,059,391–50,085,969, reverse strandMLC1MOV10L1: 50,090,002–50,161,690, forward strandMOV10L1PANX2: 50,170,458–50,180,295, forward strandPANX2TRABD: 50,184,717–50,199,600, forward strandTRABDSELENOO: 50,200,994–50,217,616, forward strandTUBGCP6: 50,217,621–50,245,033, reverse strandHDAC10: 50,245,183–50,251,407, reverse strandHDAC10MAPK12: 50,245,186–50,261,851, reverse strandMAPK12MAPK11: 50,263,703–50,270,767, reverse strandMAPK11PLXNB2: 50,274,976–50,307,695, reverse strandPLXNB2DENND6B: 50,308,989–50,327,661, reverse strandDENND6BPPP6R2: 50,330,659–50,445,090, forward strandPPP6R2SBF1: 50,443,219–50,483,923, reverse strandSBF1ADM2: 50,481,516–50,486,440, forward strandMIOX: 50,486,784–50,490,648, forward strandLMF2: 50,502,947–50,507,751, reverse strandNCAPH2: 50,508,127–50,524,781, forward strandNCAPH2SCO2: 50,523,564–50,526,461, reverse strandSCO2TYMP: 50,525,752–50,530,012, reverse strandTYMPCIMAP1B: 50,529,710–50,532,590, reverse strandCIMAP1BKLHDC7B: 50,545,899–50,551,023, forward strandSYCE3: 50,551,109–50,562,954, reverse strandCPT1B: 50,567,624–50,578,681, reverse strandCPT1BCHKB-CPT1B: 50,568,869–50,582,965, reverse strandCHKB: 50,578,959–50,601,455, reverse strandCHKBMAPK8IP2: 50,600,659–50,613,981, forward strandMAPK8IP2ARSA: 50,622,754–50,628,177, reverse strandARSASHANK3: 50,674,408–50,733,212, forward strandSHANK3ACR: 50,738,196–50,745,441, forward strandACRRABL2B: 50,767,491–50,783,760, reverse strandRABL2BDiagram of TYMP: 10 exons on the reverse strand of chromosome 22Exon 10: 8 known disease-causing sitesExon 9: 3 known disease-causing sitesExon 8: 10 known disease-causing sitesExon 7: 10 known disease-causing sitesExon 6: 8 known disease-causing sitesExon 5: 14 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 3: 24 known disease-causing sitesExon 2: 29 known disease-causing sitesExon 10: 50,525,752–50,525,918, 167 basesExon 9: 50,526,001–50,526,141, 141 basesExon 8: 50,526,246–50,526,476, 231 basesExon 7: 50,526,576–50,526,738, 163 basesExon 6: 50,527,165–50,527,283, 119 basesExon 5: 50,527,588–50,527,717, 130 basesExon 4: 50,528,512–50,528,610, 99 basesExon 3: 50,529,136–50,529,338, 203 basesExon 2: 50,529,496–50,529,719, 224 basesExon 1: 50,529,904–50,530,012, 109 bases109876543215′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 4.3 kb; 1,449 of those bases code for the protein.

How a genome test reads TYMP

131

positions in TYMP 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 4.3 kb of TYMP, introns included, not only the 1.6 kb of exons.

Genes linked to the same conditions

Traits linked to TYMP

The Human Phenotype Ontology lists these as features of the rare conditions TYMP 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.
  • 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.). TYMP gene: thymidine phosphorylase. Retrieved 17 October 2026, from https://dantelabs.com/genes/tymp

Vancouver

Dante Labs. TYMP gene: thymidine phosphorylase [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tymp

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