Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
285440
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 4 subfamily V member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP4V2
Synonyms (NCBI Gene) Gene synonyms aliases
BCD, CYP4AH1
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q35.1-q35.2
Summary Summary of gene provided in NCBI Entrez 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 acid
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs61745524 G>A Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs119103283 T>C,G Pathogenic Missense variant, coding sequence variant, intron variant
rs119103284 G>A Pathogenic Missense variant, coding sequence variant
rs138444697 C>A,T Pathogenic, uncertain-significance Missense variant, coding sequence variant
rs144109267 A>G Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT026579 hsa-miR-192-5p Microarray 19074876
MIRT030885 hsa-miR-21-5p Microarray 18591254
MIRT049698 hsa-miR-92a-3p CLASH 23622248
MIRT550563 hsa-miR-511-3p HITS-CLIP 21572407
MIRT550562 hsa-miR-567 HITS-CLIP 21572407
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001523 Process Retinoid metabolic process TAS
GO:0004497 Function Monooxygenase activity IEA
GO:0005506 Function Iron ion binding IEA
GO:0005515 Function Protein binding IPI 28514442, 33961781
GO:0005783 Component Endoplasmic reticulum IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608614 23198 ENSG00000145476
Protein
UniProt ID Q6ZWL3
Protein name Cytochrome P450 4V2 (Docosahexaenoic acid omega-hydroxylase CYP4V2) (EC 1.14.14.79) (Long-chain fatty acid omega-monooxygenase) (EC 1.14.14.80)
Protein function A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the ho
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00067 p450 51 517 Cytochrome P450 Domain
Tissue specificity TISSUE SPECIFICITY: Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney, pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes. {ECO:0000269|PubMed:15042513, ECO:0000269|PubMed:22772592}.
Sequence
Sequence length 525
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    Endogenous sterols
The canonical retinoid cycle in rods (twilight vision)
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Bietti Crystalline Dystrophy bietti crystalline corneoretinal dystrophy rs1735999769, rs199476199, rs199476194, rs199476200, rs199476182, rs369063468, rs199476201, rs199476188, rs199476195, rs199476202, rs199476189, rs199476197, rs119103283, rs199476203, rs199476184
View all (15 more)
N/A
retinal dystrophy Retinal dystrophy rs207482233, rs199476187, rs369063468, rs775749608, rs199476189, rs199476197, rs119103283, rs199476190, rs199476183, rs199476198 N/A
Retinitis Pigmentosa retinitis pigmentosa rs199476194, rs745413794 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Corneal Dystrophy corneal dystrophy N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Bietti Crystalline Dystrophy Associate 15042513, 15937078, 16179904, 19508456, 21385027, 21850171, 22605929, 22693542, 22772592, 23221965, 24480711, 24739949, 25593508, 27028354, 27658286
View all (17 more)
Carcinoma Hepatocellular Associate 30280198
Cerebral Infarction Associate 36437455
Choroidal Neovascularization Associate 21850171, 24739949, 27028354, 32799831
Choroiditis Associate 27658286
Cluster Headache Associate 27659016
Coronary Disease Associate 38066650
Diabetes Mellitus Associate 38066650
Diabetes Mellitus Type 2 Associate 30956117
Genetic Diseases Inborn Associate 22693542