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CYP4V2 cytochrome P450 family 4 subfamily V member 2 [ Homo sapiens (human) ]

Gene ID: 285440, updated on 2-Nov-2024

Summary

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Official Symbol
CYP4V2provided by HGNC
Official Full Name
cytochrome P450 family 4 subfamily V member 2provided by HGNC
Primary source
HGNC:HGNC:23198
See related
Ensembl:ENSG00000145476 MIM:608614; AllianceGenome:HGNC:23198
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCD; CYP4AH1
Summary
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in liver (RPKM 27.9), kidney (RPKM 21.3) and 23 other tissues See more
Orthologs
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Genomic context

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See CYP4V2 in Genome Data Viewer
Location:
4q35.1-q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186191567..186213463)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189531931..189553879)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187112721..187134617)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149 member A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22267 Neighboring gene LTO1 pseudogene 1 Neighboring gene uncharacterized LOC651430 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187147168-187147838 Neighboring gene uncharacterized LOC124900873 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187162259-187162864 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187164453-187164981 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187164982-187165509 Neighboring gene kallikrein B1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187170964-187171708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187185702-187186473 Neighboring gene F11 antisense RNA 1 Neighboring gene coagulation factor XI

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mamatha G, et al. Mol Vis, 2011. PMID 21850171, Free PMC Article
  2. Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy. Yin X, et al. Exp Eye Res, 2016 May. PMID 26971461
  3. Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient. Park YJ, et al. Korean J Ophthalmol, 2016 Feb. PMID 26865810, Free PMC Article
  4. Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy. Miyata M, et al. Am J Ophthalmol, 2016 Jan. PMID 26521715
  5. Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy. Meng XH, et al. Mol Vis, 2014. PMID 25593508, Free PMC Article

See all (76) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study.
    Title: CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study.
  2. An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
    Title: An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
  3. Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations.
    Title: Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations.
  4. CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population.
    Title: CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population.
  5. PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
    Title: PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
  6. Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
    Title: Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
  7. Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
    Title: Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
  8. CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).
    Title: CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).
  9. New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
    Title: New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
  10. Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.
    Title: Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.
Submit: New GeneRIF Correction See all GeneRIFs (56)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Bietti crystalline corneoretinal dystrophy
MedGen: C1859486 OMIM: 210370 GeneReviews: Bietti Crystalline Dystrophy
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EBI GWAS Catalog

Description
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ18432, MGC43534

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables heme binding IEA
Inferred from Electronic Annotation
more info
  
enables iron ion binding IEA
Inferred from Electronic Annotation
more info
  
enables long-chain fatty acid omega-hydroxylase activity IEA
Inferred from Electronic Annotation
more info
  
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in fatty acid omega-oxidation IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in retinoid metabolic process TAS
Traceable Author Statement
more info
  
involved_in sterol metabolic process TAS
Traceable Author Statement
more info
  
involved_in visual perception IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in endoplasmic reticulum membrane IDA
Inferred from Direct Assay
more info
 PubMed 
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
cytochrome P450 4V2
Names
cytochrome P450, family 4, subfamily V, polypeptide 2
docosahexaenoic acid omega-hydroxylase CYP4V2
long-chain fatty acid omega-monooxygenase
NP_997235.3
XP_005262992.1
XP_047306033.1
XP_054205685.1
XP_054205686.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_007965.1 RefSeqGene

    Range
    5048..26944
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_207352.4 → NP_997235.3  cytochrome P450 4V2

    See identical proteins and their annotated locations for NP_997235.3

    Status: REVIEWED

    Source sequence(s)
    AA918796, AC110771, AY422002, BC060857
    Consensus CDS
    CCDS34119.1
    UniProtKB/Swiss-Prot
    B7U6W2, Q6ZTM4, Q6ZWL3
    Related
    ENSP00000368079.4, ENST00000378802.5
    Conserved Domains (1) summary
    pfam00067
    Location:55 → 517
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

    Range
    186191567..186213463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262935.5 → XP_005262992.1  cytochrome P450 4V2 isoform X1

    Conserved Domains (1) summary
    pfam00067
    Location:55 → 516
    p450; Cytochrome P450

  2. XM_047450077.1 → XP_047306033.1  cytochrome P450 4V2 isoform X2

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060928.1 Alternate T2T-CHM13v2.0

    Range
    189531931..189553879
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054349710.1 → XP_054205685.1  cytochrome P450 4V2 isoform X1

  2. XM_054349711.1 → XP_054205686.1  cytochrome P450 4V2 isoform X2

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZWL3.2 GenPept UniProtKB/Swiss-Prot:Q6ZWL3

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