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

Gene ID: 285440, updated on 3-Jul-2016
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 HPRD:16777; 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:
4q35.2
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...
  • 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...
  • cytochrome P450, organism-specific biosystem (from WikiPathways)
    cytochrome P450, organism-specific biosystemOxidation of a substrate by Cytochrome P450. Adapted from Niesink et al., Chapter 3, p. 47-48.
  • metapathway biotransformation, organism-specific biosystem (from WikiPathways)
    metapathway biotransformation, organism-specific biosystem
    metapathway biotransformation
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

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, OTTHUMP00000218110, ENST00000378802, OTTHUMT00000360398
    Conserved Domains (1) summary
    pfam00067
    Location:55517
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

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  

  2. XM_005262935.3XP_005262992.1  

    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)