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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
    mouse all
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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
    		Compare labs

    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

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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