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

Gene ID: 285440, updated on 23-Nov-2021

Summary

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
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

See CYP4V2 in Genome Data Viewer
Location:
4q35.1-q35.2
Exon count:
11
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (186191567..186213463)
105.20201022 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 LTO1 pseudogene 1 Neighboring gene uncharacterized LOC651430 Neighboring gene kallikrein B1 Neighboring gene F11 antisense RNA 1 Neighboring gene coagulation factor XI

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Bietti crystalline corneoretinal dystrophy
MedGen: C1859486 OMIM: 210370 GeneReviews: Bietti Crystalline Dystrophy
Compare labs
Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
GeneReviews: Not available

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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 monooxygenase activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
involved_in fatty acid omega-oxidation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in fatty acid omega-oxidation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to stimulus IEA
Inferred from Electronic Annotation
more info
 
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
 
located_in integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

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_016863526.1

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_207352.4NP_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, ENST00000378802.5
    Conserved Domains (1) summary
    pfam00067
    Location:55517
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    186191567..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_005262935.4XP_005262992.1  cytochrome P450 4V2 isoform X1

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