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

    Gene ID: 285440, updated on 8-May-2017
    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; Vega:OTTHUMG00000160379
    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]
    Orthologs
    Location:
    4q35.1-q35.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 4 NC_000004.12 (186191520..186213463)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187112565..187134617)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149 member A Neighboring gene oral cancer overexpressed 1 pseudogene 1 Neighboring gene uncharacterized LOC651430 Neighboring gene kallikrein B1 Neighboring gene F11 antisense RNA 1 Neighboring gene coagulation factor XI

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

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

    Description
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    NHGRI GWA Catalog
    • Biological oxidations, organism-specific biosystem (from REACTOME)
      Biological oxidations, organism-specific biosystemAll organisms are constantly exposed to foreign chemicals every day. These can be man-made (drugs, industrial chemicals) or natural (alkaloids, toxins from plants and animals). Uptake is usually via ...
    • Cytochrome P450 - arranged by substrate type, organism-specific biosystem (from REACTOME)
      Cytochrome P450 - arranged by substrate type, organism-specific biosystemThe P450 isozyme system is the major phase 1 biotransforming system in man, accounting for more than 90% of drug biotransformations. This system has huge catalytic versatility and a broad substrate s...
    • Endogenous sterols, organism-specific biosystem (from REACTOME)
      Endogenous sterols, organism-specific biosystemA number of CYPs take part in cholesterol biosynthesis and elimination, thus playing an important role in maintaining cholesterol homeostasis. Under normal physiological conditions, cholesterol intak...
    • Metabolism, organism-specific biosystem (from REACTOME)
      Metabolism, organism-specific biosystemMetabolic processes in human cells generate energy through the oxidation of molecules consumed in the diet and mediate the synthesis of diverse essential molecules not taken in the diet as well as th...
    • Metapathway biotransformation, organism-specific biosystem (from WikiPathways)
      Metapathway biotransformation, organism-specific biosystem
      Metapathway biotransformation
    • Oxidation by Cytochrome P450, organism-specific biosystem (from WikiPathways)
      Oxidation by Cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
    • Phase 1 - Functionalization of compounds, organism-specific biosystem (from REACTOME)
      Phase 1 - Functionalization of compounds, organism-specific biosystemPhase 1 of metabolism is concerned with functionalization, that is the introduction or exposure of functional groups on the chemical structure of a compound. This provides a 'handle' for phase 2 conj...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • The canonical retinoid cycle in rods (twilight vision), organism-specific biosystem (from REACTOME)
      The canonical retinoid cycle in rods (twilight vision), organism-specific biosystemThe retinoid cycle (also referred to as the visual cycle) is the process by which the visual chromophore 11-cis-retinal (11cRAL) is released from light-activated opsins in the form all-trans-retinal ...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ18432, MGC43534

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    heme binding IEA
    Inferred from Electronic Annotation
    more info
     
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    monooxygenase activity TAS
    Traceable Author Statement
    more info
     
    oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    fatty acid omega-oxidation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    response to stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    retinoid metabolic process TAS
    Traceable Author Statement
    more info
     
    sterol metabolic process TAS
    Traceable Author Statement
    more info
     
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    integral component of membrane IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    cytochrome P450 4V2
    Names
    cytochrome P450, family 4, subfamily V, polypeptide 2
    docosahexaenoic acid omega-hydroxylase CYP4V2
    NP_997235.3
    XP_005262992.1
    XP_016863526.1

    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
      5001..26944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207352.3NP_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
      Q6ZWL3
      Related
      ENSP00000368079.4, OTTHUMP00000218110, ENST00000378802.4, OTTHUMT00000360398
      Conserved Domains (1) summary
      pfam00067
      Location:55517
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p7 Primary Assembly

      Range
      186191520..186213463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017008037.1XP_016863526.1  cytochrome P450 4V2 isoform X2

      Conserved Domains (1) summary
      pfam00067
      Location:6385
      p450; Cytochrome P450
    2. XM_005262935.3XP_005262992.1  cytochrome P450 4V2 isoform X1

      Conserved Domains (1) summary
      pfam00067
      Location:55516
      p450; Cytochrome P450

    Alternate CHM1_1.1

    Genomic

    1. NC_018915.2 Alternate CHM1_1.1

      Range
      187089103..187111056
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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