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Gene

DHFR

dihydrofolate reductase

Summary

Cytogenetic location
5q14.1
Coordinates
Chromosome 5: 80,626,226–80,654,983 (GRCh38)
Exons
6 exons across 28.8 kb
Protein
187 amino acids
Inheritance
Autosomal recessive
Also known as
DHFR1
MANE Select transcript
ENST00000439211.7NM_000791.4
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 report relevant to this gene

  • Rare Inherited Megaloblastic Anaemias

    • Dihydrofolate Reductase DeficiencyAutosomal recessive

      A recessive condition caused by changes in DHFR, causing megaloblastic anaemia in infancy and, in some people, seizures and other neurological problems due to low folate in the brain.

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

      Treatment with folinic acid can correct the anaemia and may improve neurological symptoms.

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.

How DHFR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 5, with a bracket where DHFR sits. DHFR and 7 genes near it on chromosome 5, from 80,140,605 to 81,140,604.Chromosome 55q14.1p15.33p15.32p15.31p15.2p15.1p14.3p14.2p14.1p13.3p13.2p13.1p12p11q11.1q11.2q12.1q12.2q12.3q13.1q13.2q13.3q14.1q14.2q14.3q15q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q31.1q31.2q31.3q32q33.1q33.2q33.3q34q35.1q35.2q35.380.2 Mb80.4 Mb80.6 Mb80.8 Mb81 MbSERINC5: 80,111,221–80,256,088, reverse strandSERINC5SPZ1: 80,319,625–80,321,842, forward strandSPZ1ZFYVE16: 80,407,149–80,483,379, forward strandZFYVE16FAM151B: 80,487,954–80,542,563, forward strandFAM151BANKRD34B: 80,556,755–80,570,479, reverse strandANKRD34BDHFR: 80,626,226–80,654,983, reverse strandDHFRMSH3: 80,654,613–80,880,295, forward strandMSH3RASGRF2: 80,960,234–81,230,166, forward strandRASGRF2Diagram of DHFR: 6 exons on the reverse strand of chromosome 5Exon 1: 1 known disease-causing siteExon 6: 80,626,226–80,629,165, 2,940 basesExon 5: 80,633,877–80,633,992, 116 basesExon 4: 80,637,883–80,638,009, 127 basesExon 3: 80,649,389–80,649,494, 106 basesExon 2: 80,654,008–80,654,057, 50 basesExon 1: 80,654,404–80,654,983, 580 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 3.9 kb of the gene's 28.8 kb; 564 of those bases code for the protein.

How a genome test reads DHFR

1

position in DHFR 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 28.8 kb of DHFR, introns included, not only the 3.9 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.
  • 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.). DHFR gene: dihydrofolate reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/dhfr

Vancouver

Dante Labs. DHFR gene: dihydrofolate reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/dhfr

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