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Gene

CYP2R1

cytochrome P450 family 2 subfamily R member 1

Summary

Cytogenetic location
11p15.2
Coordinates
Chromosome 11: 14,877,440–14,892,231 (GRCh38)
Exons
5 exons across 14.8 kb
Protein
501 amino acids
MANE Select transcript
ENST00000334636.10NM_024514.5
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

  • Hereditary Rickets (Hypophosphatemic and Vitamin D-Dependent)

    • Vitamin D-dependent rickets

      Inherited defects in activating vitamin D (CYP27B1, CYP2R1) or in the vitamin D receptor (VDR) that cause rickets in early childhood despite adequate vitamin D intake.

      • 1 GenCC submitter rates it definitive or strong
      What knowing changes

      Most types respond well to calcitriol, high-dose vitamin D or high-dose calcium, depending on the type.

How CYP2R1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 11, with a bracket where CYP2R1 sits. CYP2R1 and 7 genes near it on chromosome 11, from 14,384,836 to 15,384,835.Chromosome 1111p15.2p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2514.4 Mb14.6 Mb14.8 Mb15 Mb15.2 MbCOPB1: 14,443,357–14,500,027, reverse strandCOPB1: 14,493,783–14,520,344, reverse strandPSMA1: 14,504,211–14,643,635, reverse strandPSMA1PDE3B: 14,643,663–14,874,657, forward strandPDE3BCYP2R1: 14,877,440–14,892,231, reverse strandCYP2R1CALCB: 14,904,997–15,083,701, forward strandCALCBCALCA: 14,966,622–14,972,357, reverse strandCALCAINSC: 15,112,424–15,247,208, forward strandINSCDiagram of CYP2R1: 5 exons on the reverse strand of chromosome 11Exon 4: 1 known disease-causing siteExon 3: 9 known disease-causing sitesExon 2: 2 known disease-causing sitesExon 1: 2 known disease-causing sitesExon 5: 14,877,440–14,878,297, 858 basesExon 4: 14,879,114–14,879,443, 330 basesExon 3: 14,880,136–14,880,768, 633 basesExon 2: 14,885,776–14,885,917, 142 basesExon 1: 14,891,981–14,892,231, 251 bases543215′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 2.2 kb of the gene's 14.8 kb; 1,506 of those bases code for the protein.

How a genome test reads CYP2R1

17

positions in CYP2R1 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 14.8 kb of CYP2R1, introns included, not only the 2.2 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.). CYP2R1 gene: cytochrome P450 family 2 subfamily R member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/cyp2r1

Vancouver

Dante Labs. CYP2R1 gene: cytochrome P450 family 2 subfamily R member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/cyp2r1

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