Gene
DPYD
dihydropyrimidine dehydrogenase
- HGNC 3012(opens in a new tab)
- Ensembl gene ENSG00000188641(opens in a new tab)
- NCBI Gene 1806(opens in a new tab)
Summary
- Cytogenetic location
- 1p21.3
- Coordinates
- Chromosome 1: 97,077,743–97,921,034 (GRCh38)
- Exons
- 23 exons across 843.3 kb
- Protein
- 1,025 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DPD, DHPDHase
- MANE Select transcript
- ENST00000370192.8NM_000110.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated report relevant to this gene
Purine & Pyrimidine Metabolism Disorders
- Dihydropyrimidine Dehydrogenase DeficiencyAutosomal recessive
Caused by variants in DPYD; it can cause neurological problems in children and, even when silent, a high risk of severe toxicity from fluoropyrimidine chemotherapy (5-fluorouracil, capecitabine).
- 2 GenCC submitters rate it definitive or strong
What knowing changes
Knowing allows doctors to reduce the dose or choose another treatment before fluoropyrimidine chemotherapy.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
DPYD and medicines
Fluoropyrimidine toxicity
Pharmacogenomics
DPYD encodes the enzyme that breaks down fluoropyrimidine chemotherapy (5-FU, capecitabine). Reduced activity lets the drug accumulate to toxic levels — occasionally fatally.
- If you are ever offered 5-FU or capecitabine (common in colorectal, breast, and GI cancers), show this result to your oncologist first.
- DPYD testing before fluoropyrimidine chemotherapy is now recommended by several national bodies.
Alleles the report reads
- c.1129-5923C>G, c.1236G>A (HapB3)Decreased function
- c.1905+1G>A (*2A)No function
- c.2846A>TDecreased function
- ReferenceNormal function
- c.1679T>G (*13)No function
Results CPIC describes
- Normal Metabolizer
- Intermediate Metabolizer
- Poor Metabolizer
Medicine CPIC level Guideline capecitabine A DPYD and Fluoropyrimidines fluorouracil A DPYD and Fluoropyrimidines Show 1 more medicine
Medicine CPIC level Guideline tegafur C DPYD and Fluoropyrimidines Calls the four CPIC-tier variants, including the HapB3 haplotype; rarer no-function alleles are not assessed.
How DPYD is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 4.4 kb of the gene's 843.3 kb; 3,078 of those bases code for the protein.
How a genome test reads DPYD
126
positions in DPYD 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 843.3 kb of DPYD, introns included, not only the 4.4 kb of exons.
Traits linked to DPYD
The Human Phenotype Ontology lists these as features of the rare conditions DPYD can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal eating behavior
- Global developmental delay
- Intellectual disability
- Intellectual disability, mild
- Shyness
- Autism spectrum disorder
- Behavioral abnormality
- Delayed speech and language development
Show 26 more traits
- EEG abnormality
- Epilepsy
- Multifocal epileptiform discharges
- Specific learning disability
- Abnormal social behavior
- Absent reflexes
- Absent speech development
- Agenesis of corpus callosum
- Aggressive behavior
- Autism
- Degeneration of cerebrum
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal motor seizure
- Hyperintensity of cerebral white matter on MRI
- Inability to walk
- Increased reflexes
- IQ less than 20
- Irritability
- Self-injurious behavior
- Self-mutilation
- Severe expressive language delay
- Severe global developmental delay
- Lethargy
- More active than typical
- Motor delay
- Paralysis of all four limbs
External links
Gene records
Transcript
Protein
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.
- CPIC and PharmGKB: the alleles, results and medicines.
- 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
Dante Labs. (n.d.). DPYD gene: dihydropyrimidine dehydrogenase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dpyd
Dante Labs. DPYD gene: dihydropyrimidine dehydrogenase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dpyd
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