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

Gene ID: 285440, updated on 26-Aug-2014
Official Symbol
CYP4V2provided by HGNC
Official Full Name
cytochrome P450, family 4, subfamily V, polypeptide 2provided by HGNC
Primary source
HGNC:23198
Locus tag
UNQ2560
See related
HPRD:16777; MIM:608614
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]
See CYP4V2 in Epigenomics, MapViewer
Location:
4q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 4 NC_000004.12 (186191411..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 toll-like receptor 3 Neighboring gene family with sequence similarity 149, member A Neighboring gene oral cancer overexpressed 1 pseudogene 1 Neighboring gene uncharacterized LOC651430 Neighboring gene kallikrein B, plasma (Fletcher factor) 1 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
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 IEA
Inferred from Electronic Annotation
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
 
visual perception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
cytochrome P450 4V2
Names
cytochrome P450 4V2
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 

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

mRNA and Protein(s)

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

    See proteins identical to NP_997235.3

    Status: REVIEWED

    Source sequence(s)
    AA918796, AC110771, AY422002, BC060857
    Consensus CDS
    CCDS34119.1
    UniProtKB/Swiss-Prot
    Q6ZWL3
    Conserved Domains (1) summary
    pfam00067
    Location:55517
    Blast Score: 947
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000004.12 

    Range
    186191411..186213463
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005262935.1XP_005262992.1  

    Conserved Domains (1) summary
    pfam00067
    Location:55516
    Blast Score: 937
    p450; Cytochrome P450
  2. XM_006714184.1XP_006714247.1  

    Conserved Domains (1) summary
    pfam00067
    Location:6385
    Blast Score: 849
    p450; Cytochrome P450

Alternate HuRef

Genomic

  1. AC_000136.1 

    Range
    182865016..182886685
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018915.2 

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