Gene Gene information from NCBI Gene database.
Entrez ID 285440
Gene name Cytochrome P450 family 4 subfamily V member 2
Gene symbol CYP4V2
Synonyms (NCBI Gene)
BCDCYP4AH1
Chromosome 4
Chromosome location 4q35.1-q35.2
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 acid
SNPs SNP information provided by dbSNP.
33
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.
729
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608614 23198 ENSG00000145476
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Bietti crystalline corneoretinal dystrophy Pathogenic; Likely pathogenic rs776616377, rs2126582121, rs767779208, rs761362530, rs2126600867, rs119103283, rs119103285, rs199476183, rs797045181, rs2478888763, rs199476198, rs199476199, rs199476200, rs199476201, rs199476202
View all (22 more)
RCV004796625
RCV001780606
RCV002267641
RCV002267676
RCV002272687
View all (33 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial cancer of breast Likely pathogenic; Pathogenic rs767779208 RCV005922662
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Familial pancreatic carcinoma Pathogenic rs1300138505 RCV005866780
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs767779208 RCV005922663
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIETTI CRYSTALLINE DYSTROPHY CTD, Orphanet
CTD, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHOROIDEREMIA Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Corneal dystrophy Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Amaurosis congenita of Leber, type 1 Leber congenital amaurosis BEFREE 28453600
★☆☆☆☆
Found in Text Mining only
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy BEFREE 15042513, 15860296, 15937078, 16088246, 16179904, 16186368, 17013694, 17249554, 17962476, 18398705, 19508456, 19797200, 21385027, 21565171, 21850171
View all (20 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy CLINVAR_DG 15042513, 15860296, 15937078, 17962476, 19508456, 21565171, 22693542, 22772592, 23661369, 23793346, 24739949, 25356976, 25593508, 25611614, 25629076
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy ORPHANET_DG 15042513, 21565171
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy UNIPROT_DG 15042513, 22772592
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy CTD_human_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY Bietti Crystalline Dystrophy GENOMICS_ENGLAND_DG
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bietti Crystalline Dystrophy Bietti crystalline corneoretinal dystrophy Pubtator 15042513, 15937078, 16179904, 19508456, 21385027, 21850171, 22605929, 22693542, 22772592, 23221965, 24480711, 24739949, 25593508, 27028354, 27658286
View all (17 more)
Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bietti crystalline dystrophy Bietti Crystalline Dystrophy Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Butterfly-shaped pigmentary macular dystrophy Macular dystrophy, patterned BEFREE 28453600
★☆☆☆☆
Found in Text Mining only