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Aliases for CYP4V2 Gene

Aliases for CYP4V2 Gene

  • Cytochrome P450 Family 4 Subfamily V Member 2 2 3 5
  • Cytochrome P450, Family 4, Subfamily V, Polypeptide 2 2 3
  • Docosahexaenoic Acid Omega-Hydroxylase CYP4V2 3 4
  • EC 1.14.13.199 4
  • EC 1.14.14.1 63
  • EC 1.14.13.- 4
  • CYP4AH1 3
  • BCD 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 Member 2) is a Protein Coding gene. Diseases associated with CYP4V2 include bietti crystalline corneoretinal dystrophy and corneal dystrophy. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP4F8.

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

Promoters for CYP4V2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CYP4V2 on UCSC Golden Path with GeneCards custom track

Genomic Location for CYP4V2 Gene

Chromosome:
4
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

Genes around CYP4V2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP4V2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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 & Families for CYP4V2 Gene

Gene Families for CYP4V2 Gene

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 :
  • Belongs to the cytochrome P450 family.
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 TAS --
genes like me logo Genes that share ontologies with CYP4V2: view
genes like me logo Genes that share phenotypes with CYP4V2: view

Human Phenotype Ontology for CYP4V2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

No data available for Animal Models , Transcription Factor Targets 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
nucleus 3
cytosol 2
plasma membrane 2
extracellular 1
lysosome 1
peroxisome 1
vacuole 1

No data available for Gene Ontology (GO) - Cellular Components for CYP4V2 Gene

Pathways & Interactions for CYP4V2 Gene

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

Pathways by source 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:0001523 retinoid metabolic process TAS --
genes like me logo Genes that share ontologies with CYP4V2: view

No data available for SIGNOR curated interactions for CYP4V2 Gene

Drugs & Compounds for CYP4V2 Gene

(1) Drugs for CYP4V2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
heme Pharma Agonist 0
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:

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 (x5.6).

Protein differential expression in normal tissues from HIPED for CYP4V2 Gene

This gene is overexpressed in Adrenal (24.8), Prostate (12.5), Liver (10.6), and Gallbladder (7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with CYP4V2: view

Protein tissue co-expression partners for CYP4V2 Gene

Primer Products

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
cow
(Bos Taurus)
Mammalia CYP4V2 35
  • 83.08 (n)
  • 77.86 (a)
CYP4V2 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia LOC102152484 35
  • 84.7 (n)
  • 80.53 (a)
CYP4V2 36
  • 79 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cyp4v3 35
  • 82.06 (n)
  • 82.06 (a)
Cyp4v3 16
Cyp4v3 36
  • 82 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia LOC744981 35
  • 99.05 (n)
  • 99.05 (a)
CYP4V2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cyp4v3 35
  • 82.63 (n)
  • 83.59 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CYP4V2 36
  • 63 (a)
OneToOne
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
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100485929 35
  • 64.56 (n)
  • 64.36 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10792 35
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-32A1 35
  • 53.08 (n)
  • 48.2 (a)
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 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
VAR_023084 Bietti crystalline corneoretinal dystrophy (BCD)
VAR_023085 Bietti crystalline corneoretinal dystrophy (BCD)
VAR_023086 Bietti crystalline corneoretinal dystrophy (BCD)
VAR_023087 Bietti crystalline corneoretinal dystrophy (BCD)
rs149684063 Bietti crystalline corneoretinal dystrophy (BCD) 186,196,042(+) CCTCT(A/G)TGTAC intron-variant, reference, missense

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

Variation tolerance for CYP4V2 Gene

Residual Variation Intolerance Score: 72.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.04; 84.30% of all genes are more intolerant (likely to be disease-causing)

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

(11) MalaCards diseases for CYP4V2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bietti crystalline corneoretinal dystrophy
  • bietti's crystalline dystrophy
corneal dystrophy
telangiectatic osteogenic sarcoma
  • telangiectatic osteosarcoma
choroidal sclerosis
  • choroidal degenerations
localized osteosarcoma
  • localized osteogenic sarcoma
- elite association - COSMIC cancer census association via MalaCards

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.

Relevant External Links for CYP4V2

Genetic Association Database (GAD)
CYP4V2
Human Genome Epidemiology (HuGE) Navigator
CYP4V2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CYP4V2
genes like me logo Genes that share disorders with CYP4V2: view

No data available for Genatlas for CYP4V2 Gene

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 67
  2. Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations. (PMID: 17962476) Lai T.Y. … Pang C.P. (Invest. Ophthalmol. Vis. Sci. 2007) 3 23
  3. Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations. (PMID: 17249554) Nakamura M. … Miyake Y. (Adv. Exp. Med. Biol. 2006) 3 23
  4. 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
  5. CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy. (PMID: 16088246) Gekka T. … Kitahara K. (Ophthalmic Res. 2005) 3 23

Products for CYP4V2 Gene

Sources for CYP4V2 Gene

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