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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
434
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
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
RCV000002272
RCV000002274
RCV000002275
RCV000191926
RCV004018299
RCV000032525
RCV000032526
RCV000032527
RCV000032528
RCV000032529
RCV000032531
RCV000032532
RCV000032533
RCV000032534
RCV000032537
RCV000032538
RCV000032539
RCV000032540
RCV000032542
RCV000032543
RCV000032545
RCV000032546
RCV000032548
RCV000032549
RCV000032550
RCV000032552
RCV000987493
RCV001003003
RCV001003004
RCV002481945
RCV006449381
RCV001809979
RCV001195425
Familial cancer of breast Likely pathogenic; Pathogenic rs767779208 RCV005922662
Familial pancreatic carcinoma Pathogenic rs1300138505 RCV005866780
Hepatocellular carcinoma Likely pathogenic; Pathogenic rs767779208 RCV005922663
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs1053094 RCV005897800
Corneal dystrophy Benign; Conflicting classifications of pathogenicity; Likely benign; Uncertain significance rs3817184, rs3736455, rs3736456, rs76978024, rs141950964, rs13146272, rs34745240, rs531909464, rs62350517, rs10029149, rs886059282, rs144008429, rs35524919, rs762821992, rs72646298
View all (103 more)
RCV000320079
RCV000356224
RCV000325070
RCV000321446
RCV000327801
RCV000358574
RCV000333143
RCV000384414
RCV000263928
RCV000384334
RCV000405205
RCV000298644
RCV000311613
RCV000333426
RCV000384580
RCV000403319
RCV000267297
RCV000384651
RCV000393783
RCV000405427
RCV000298538
RCV000304411
RCV000328778
RCV000322206
RCV000405645
RCV000307955
RCV000306829
RCV000276069
RCV000308230
RCV000365059
RCV000372346
RCV000303628
RCV000262151
RCV000367772
RCV000284732
RCV000290603
RCV000345533
RCV000311285
RCV000273471
RCV000333210
RCV000375099
RCV000296354
RCV000392054
RCV000406483
RCV000349258
RCV000260161
RCV000299136
RCV000299291
RCV000341915
RCV000324587
RCV000362639
RCV000280676
RCV000339797
RCV000338240
RCV000334385
RCV000314055
RCV000302235
RCV000319021
RCV000325295
RCV000350529
RCV000387655
RCV000380500
RCV000318941
RCV000264412
RCV000352220
RCV000260520
RCV000278726
RCV001144049
RCV001150364
RCV001148610
RCV001145841
RCV001148609
RCV001148737
RCV001144157
RCV001146043
RCV001148837
RCV001148839
RCV001148840
RCV001150367
RCV001144279
RCV001146162
RCV001146165
RCV001148970
RCV001148971
RCV001148973
RCV001150485
RCV001144393
RCV001144395
RCV001149085
RCV001149087
RCV001150597
RCV001150600
RCV001144505
RCV001149211
RCV001150709
RCV001150710
RCV001150713
RCV001150716
RCV001144616
RCV001144617
RCV001144620
RCV001146552
RCV001146553
RCV001149318
RCV001150820
RCV001150822
RCV001144708
RCV001144710
RCV001144711
RCV001144713
RCV001146670
RCV001146673
RCV001146674
RCV001147580
RCV001147581
RCV001150905
RCV001150907
RCV001145950
RCV001144159
RCV001146045
Corneal Dystrophy, Recessive Uncertain significance; Benign; Likely benign rs60425964, rs1554075269, rs574084304, rs7662717, rs200054565, rs869178465, rs886059294, rs549805175, rs886059281, rs199938898, rs886059286, rs144125100, rs58524374, rs886059287 RCV000297708
RCV000381066
RCV000336314
RCV000404040
RCV000325117
RCV000360613
RCV000277649
RCV000296044
RCV000283823
RCV000358766
RCV000280770
RCV000343653
RCV000346230
RCV000334310
RCV000405099
RCV000312380
RCV000284688
RCV000348016
RCV000385954
RCV000340628
RCV000403070
RCV000271858
RCV000329024
CYP4V2-related disorder Uncertain significance; Conflicting classifications of pathogenicity rs1044405297, rs374270799, rs61745524, rs145611966, rs35524919 RCV004734301
RCV004532722
RCV004543297
RCV004535930
RCV004538375
Associations from Text MiningDisease 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