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Gene

CYP4V2

cytochrome P450 family 4 subfamily V member 2

Summary

Cytogenetic location
4q35.1-q35.2
Coordinates
Chromosome 4: 186,191,567–186,213,463 (GRCh38)
Exons
11 exons across 21.9 kb
Protein
525 amino acids
Inheritance
Autosomal recessive
Also known as
CYP4AH1
MANE Select transcript
ENST00000378802.5NM_207352.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Curated report relevant to this gene

  • Hereditary Macular Dystrophies

    • Bietti Crystalline Corneoretinal DystrophyAutosomal recessive

      A recessive retinal dystrophy caused by changes in both copies of CYP4V2, with glistening crystals in the retina and progressive vision loss.

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong
      What knowing changes

      A genetic diagnosis can give access to gene-therapy clinical trials.

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 CYP4V2 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 4, with a bracket where CYP4V2 sits. CYP4V2 and 9 genes near it on chromosome 4, from 185,702,515 to 186,702,514.Chromosome 44q35.1-q35.2p16.3p16.2p16.1p15.33p15.32p15.31p15.2p15.1p14p13p12p11q11q12q13.1q13.2q13.3q21.1q21.21q21.22q21.23q21.3q22.1q22.2q22.3q23q24q25q26q27q28.1q28.2q28.3q31.1q31.21q31.22q31.23q31.3q32.1q32.2q32.3q33q34.1q34.2q34.3q35.1q35.2185.8 Mb186 Mb186.2 Mb186.4 Mb186.6 MbSORBS2: 185,585,444–185,956,721, reverse strandSORBS2TLR3: 186,068,911–186,088,073, forward strandTLR3FAM149A: 186,104,419–186,175,437, forward strandFAM149ACYP4V2: 186,191,567–186,213,463, forward strandCYP4V2: 186,208,979–186,258,469, forward strandKLKB1: 186,225,424–186,258,476, forward strandKLKB1F11: 186,260,159–186,291,745, forward strandF11: 186,426,546–186,555,328, reverse strandMTNR1A: 186,526,792–186,555,567, reverse strandMTNR1AFAT1: 186,586,717–186,726,722, reverse strandFAT1Diagram of CYP4V2: 11 exons on the forward strand of chromosome 4Exon 1: 3 known disease-causing sitesExon 2: 4 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 3 known disease-causing sitesExon 6: 2 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 5 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 11: 1 known disease-causing siteExon 1: 186,191,567–186,192,037, 471 basesExon 2: 186,194,500–186,194,612, 113 basesExon 3: 186,196,003–186,196,088, 86 basesExon 4: 186,196,940–186,197,130, 191 basesExon 5: 186,197,533–186,197,602, 70 basesExon 6: 186,198,957–186,199,083, 127 basesExon 7: 186,201,157–186,201,342, 186 basesExon 8: 186,205,200–186,205,302, 103 basesExon 9: 186,208,865–186,208,999, 135 basesExon 10: 186,209,093–186,209,272, 180 basesExon 11: 186,210,469–186,213,463, 2,995 bases1246810115′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 4.7 kb of the gene's 21.9 kb; 1,578 of those bases code for the protein.

How a genome test reads CYP4V2

34

positions in CYP4V2 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 21.9 kb of CYP4V2, introns included, not only the 4.7 kb of exons.

Traits linked to CYP4V2

The Human Phenotype Ontology lists these as features of the rare conditions CYP4V2 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.). CYP4V2 gene: cytochrome P450 family 4 subfamily V member 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cyp4v2

Vancouver

Dante Labs. CYP4V2 gene: cytochrome P450 family 4 subfamily V member 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cyp4v2

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