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Aliases for CYP4V2 Gene

Aliases for CYP4V2 Gene

  • Cytochrome P450, Family 4, Subfamily V, Polypeptide 2 2 3
  • Docosahexaenoic Acid Omega-Hydroxylase CYP4V2 3 4
  • BCD 3 6
  • Cytochrome P450 4V2 3
  • EC 1.14.13.199 4
  • EC 1.14.14.1 63
  • EC 1.14.13.- 4
  • CYP4AH1 3

External Ids for CYP4V2 Gene

Previous GeneCards Identifiers for CYP4V2 Gene

  • GC00U916976
  • GC04P187488
  • GC04P187349
  • GC04P187112
  • GC04P182864

Summaries for CYP4V2 Gene

Entrez Gene Summary for CYP4V2 Gene

  • 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]

GeneCards Summary for CYP4V2 Gene

CYP4V2 (Cytochrome P450, Family 4, Subfamily V, Polypeptide 2) is a Protein Coding gene. Diseases associated with CYP4V2 include bietti crystalline corneoretinal dystrophy and corneal dystrophy. Among its related pathways are Biological oxidations and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F12.

UniProtKB/Swiss-Prot for CYP4V2 Gene

  • Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye (PubMed:19661213, PubMed:22772592). Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12) (PubMed:19661213). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:22772592). Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:22772592).

Gene Wiki entry for CYP4V2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP4V2 Gene

Genomics for CYP4V2 Gene

Regulatory Elements for CYP4V2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CYP4V2 Gene

Start:
186,191,411 bp from pter
End:
186,213,463 bp from pter
Size:
22,053 bases
Orientation:
Plus strand

Genomic View for CYP4V2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CYP4V2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CYP4V2 Gene

Proteins for CYP4V2 Gene

  • Protein details for CYP4V2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6ZWL3-CP4V2_HUMAN
    Recommended name:
    Cytochrome P450 4V2
    Protein Accession:
    Q6ZWL3
    Secondary Accessions:
    • B7U6W2
    • Q6ZTM4

    Protein attributes for CYP4V2 Gene

    Size:
    525 amino acids
    Molecular mass:
    60724 Da
    Cofactor:
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CYP4V2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CYP4V2 Gene

Proteomics data for CYP4V2 Gene at MOPED

Selected DME Specific Peptides for CYP4V2 Gene

Post-translational modifications for CYP4V2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP4V2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains for CYP4V2 Gene

Gene Families for CYP4V2 Gene

HGNC:
  • CYP :Cytochrome P450s
IUPHAR :

Protein Domains for CYP4V2 Gene

Suggested Antigen Peptide Sequences for CYP4V2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q6ZWL3

UniProtKB/Swiss-Prot:

CP4V2_HUMAN :
  • Q6ZWL3
Family:
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP4V2: view

Function for CYP4V2 Gene

Molecular function for CYP4V2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties: Kinetic parameters: KM=65 uM for myristic acid {ECO:0000269 PubMed:19661213}; KM=140 uM for lauric acid {ECO:0000269 PubMed:19661213}; KM=430 uM for palmitic acid {ECO:0000269 PubMed:19661213}; Note=Vmax is the nearly the same for myristic acid and for lauric acid and reduced about 30% for palmitic acid. {ECO:0000269 PubMed:19661213};
UniProtKB/Swiss-Prot CatalyticActivity: Docosahexaenoate + NADPH + O(2) = 22-hydroxydocosahexaenoate + NADP(+) + H(2)O.
UniProtKB/Swiss-Prot EnzymeRegulation: Inhibited by N-hydroxy-N-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC(50) of 38 nM.
UniProtKB/Swiss-Prot Function: Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye (PubMed:19661213, PubMed:22772592). Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12) (PubMed:19661213). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:22772592). Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:22772592).

Enzyme Numbers (IUBMB) for CYP4V2 Gene

Gene Ontology (GO) - Molecular Function for CYP4V2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004497 monooxygenase activity IEA --
GO:0005506 iron ion binding IEA --
GO:0016705 oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with CYP4V2: view

Animal Model Products

CRISPR Products

miRNA for CYP4V2 Gene

miRTarBase miRNAs that target CYP4V2

No data available for Phenotypes , Animal Models , Transcription Factor Targeting and HOMER Transcription for CYP4V2 Gene

Localization for CYP4V2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP4V2 Gene

Endoplasmic reticulum membrane; Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CYP4V2 Gene COMPARTMENTS Subcellular localization image for CYP4V2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
plasma membrane 2
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for CYP4V2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum --
GO:0005789 endoplasmic reticulum membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CYP4V2: view

Pathways for CYP4V2 Gene

genes like me logo Genes that share pathways with CYP4V2: view

Pathways by source for CYP4V2 Gene

2 BioSystems pathways for CYP4V2 Gene

UniProtKB/Swiss-Prot Q6ZWL3-CP4V2_HUMAN

  • Pathway: Lipid metabolism.

Gene Ontology (GO) - Biological Process for CYP4V2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007601 visual perception IEA --
GO:0010430 fatty acid omega-oxidation IDA 19661213
GO:0050896 response to stimulus IEA --
GO:0055114 oxidation-reduction process --
genes like me logo Genes that share ontologies with CYP4V2: view

Compounds for CYP4V2 Gene

(1) HMDB Compounds for CYP4V2 Gene

Compound Synonyms Cas Number PubMed IDs
Heme
  • (protoporphyrinato)iron
14875-96-8
genes like me logo Genes that share compounds with CYP4V2: view

Transcripts for CYP4V2 Gene

Unigene Clusters for CYP4V2 Gene

Cytochrome P450, family 4, subfamily V, polypeptide 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CYP4V2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for CYP4V2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP4V2 Gene

No ASD Table

Relevant External Links for CYP4V2 Gene

GeneLoc Exon Structure for
CYP4V2
ECgene alternative splicing isoforms for
CYP4V2

Expression for CYP4V2 Gene

mRNA expression in normal human tissues for CYP4V2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CYP4V2 Gene

This gene is overexpressed in Liver (5.6).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for CYP4V2 Gene

SOURCE GeneReport for Unigene cluster for CYP4V2 Gene Hs.587231

mRNA Expression by UniProt/SwissProt for CYP4V2 Gene

Q6ZWL3-CP4V2_HUMAN
Tissue specificity: Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes.
genes like me logo Genes that share expressions with CYP4V2: view

In Situ Assay Products

Orthologs for CYP4V2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP4V2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CYP4V2 36
  • 99 (a)
OneToOne
LOC744981 35
  • 99.05 (n)
  • 99.05 (a)
cow
(Bos Taurus)
Mammalia CYP4V2 35
  • 83.08 (n)
  • 77.86 (a)
CYP4V2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CYP4V2 36
  • 79 (a)
OneToOne
LOC102152484 35
  • 84.7 (n)
  • 80.53 (a)
mouse
(Mus musculus)
Mammalia Cyp4v3 35
  • 82.06 (n)
  • 82.06 (a)
Cyp4v3 16
Cyp4v3 36
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CYP4V2 36
  • 63 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp4v3 35
  • 82.63 (n)
  • 83.59 (a)
chicken
(Gallus gallus)
Aves CYP4V2 35
  • 66.19 (n)
  • 63.95 (a)
CYP4V2 36
  • 61 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia CYP4V2 36
  • 56 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.10792 35
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485929 35
  • 64.56 (n)
  • 64.36 (a)
zebrafish
(Danio rerio)
Actinopterygii cyp4v7 36
  • 63 (a)
OneToMany
cyp4v8 36
  • 59 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000194 35
  • 53.16 (n)
  • 52.67 (a)
fruit fly
(Drosophila melanogaster)
Insecta Cyp4c3 35
  • 53.44 (n)
  • 51.36 (a)
Cyp4c3 36
  • 47 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea cyp-29A2 36
  • 34 (a)
OneToMany
cyp-29A3 36
  • 33 (a)
OneToMany
cyp-29A4 36
  • 36 (a)
OneToMany
cyp-31A2 36
  • 44 (a)
OneToMany
cyp-31A3 36
  • 44 (a)
OneToMany
cyp-31A5 36
  • 40 (a)
OneToMany
cyp-32A1 35
  • 53.08 (n)
  • 48.2 (a)
cyp-32A1 36
  • 42 (a)
OneToMany
cyp-32B1 36
  • 39 (a)
OneToMany
cyp-37A1 36
  • 41 (a)
OneToMany
cyp-37B1 36
  • 38 (a)
OneToMany
cyp-42A1 36
  • 41 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.8596 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 46 (a)
OneToMany
-- 36
  • 43 (a)
OneToMany
Species with no ortholog for CYP4V2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CYP4V2 Gene

ENSEMBL:
Gene Tree for CYP4V2 (if available)
TreeFam:
Gene Tree for CYP4V2 (if available)

Paralogs for CYP4V2 Gene

genes like me logo Genes that share paralogs with CYP4V2: view

Variants for CYP4V2 Gene

Sequence variations from dbSNP and Humsavar for CYP4V2 Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type MAF
rs1053094 -- 186,211,877(+) TTTTG(A/T)TCGTG utr-variant-3-prime
rs1473597 -- 186,206,663(+) CTGGC(A/G)TGGAG intron-variant
rs1877320 -- 186,210,125(+) CCAGA(A/G)TGAAA intron-variant
rs2102575 -- 186,210,350(+) TTCTG(A/G)TTCTC intron-variant
rs2276917 -- 186,208,841(+) AGGTC(A/G)TCTTA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CYP4V2 Gene

Variant ID Type Subtype PubMed ID
dgv683n27 CNV Gain 19166990
dgv5851n71 CNV Gain 21882294
nsv470097 CNV Gain 18288195
dgv5852n71 CNV Gain 21882294
nsv461864 CNV Gain 19166990
nsv830172 CNV Loss 17160897
nsv508340 CNV Loss 20534489
nsv4642 CNV Loss 18451855
nsv4644 CNV Insertion 18451855
esv2728930 CNV Deletion 23290073

Relevant External Links for CYP4V2 Gene

HapMap Linkage Disequilibrium report
CYP4V2
Human Gene Mutation Database (HGMD)
CYP4V2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CYP4V2 Gene

Disorders for CYP4V2 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (3) Diseases for CYP4V2 Gene including...

Search for CYP4V2 Gene in MalaCards »

(1) OMIM Diseases for CYP4V2 Gene (608614)

UniProtKB/Swiss-Prot

CP4V2_HUMAN
  • Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. {ECO:0000269 PubMed:15042513, ECO:0000269 PubMed:22772592}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CYP4V2 Gene

Relevant External Links for CYP4V2

Genetic Association Database (GAD)
CYP4V2
Human Genome Epidemiology (HuGE) Navigator
CYP4V2
genes like me logo Genes that share disorders with CYP4V2: view

Publications for CYP4V2 Gene

  1. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (PMID: 15042513) Li A. … Hejtmancik J.F. (Am. J. Hum. Genet. 2004) 2 3 4 23
  2. Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy. (PMID: 15860296) Wada Y. … Tamai M. (Am. J. Ophthalmol. 2005) 3 23
  3. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (PMID: 16179904) Shan M. … Li Y. (Mol. Vis. 2005) 3 23
  4. Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations. (PMID: 16186368) Lee K.Y. … Vithana E.N. (Invest. Ophthalmol. Vis. Sci. 2005) 3 23
  5. Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (PMID: 17249554) Nakamura M. … Miyake Y. (Adv. Exp. Med. Biol. 2006) 3 23

Products for CYP4V2 Gene

Sources for CYP4V2 Gene

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