CYP4V2 (cytochrome P450 family 4 subfamily V member 2)

2014-11-01  

Identity

HGNC
LOCATION
4q35.1
LOCUSID
ALIAS
BCD,CYP4AH1

Other Information

Locus ID:

NCBI: 285440
MIM: 608614
HGNC: 23198
Ensembl: ENSG00000145476

Variants:

dbSNP: 285440
ClinVar: 285440
TCGA: ENSG00000145476
COSMIC: CYP4V2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145476ENST00000378802Q6ZWL3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Visual phototransductionREACTOMER-HSA-2187338
The canonical retinoid cycle in rods (twilight vision)REACTOMER-HSA-2453902
MetabolismREACTOMER-HSA-1430728
Biological oxidationsREACTOMER-HSA-211859
Phase 1 - Functionalization of compoundsREACTOMER-HSA-211945
Cytochrome P450 - arranged by substrate typeREACTOMER-HSA-211897
Endogenous sterolsREACTOMER-HSA-211976

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
366750352023Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations.2
367950632023An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.2
380666502023CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study.0
366750352023Structural Investigation of Beta-Cyclodextrin Complexes with Cannabidiol and Delta-9-Tetrahydrocannabinol in 1:1 and 2:1 Host-Guest Stoichiometry: Molecular Docking and Density Functional Calculations.2
367950632023An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.2
380666502023CYP4V2 rs56413992 C > T was associated with the risk of coronary heart disease in the Chinese Han population: a case-control study.0
347981242022CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).3
349235102022PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.4
364374552022CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population.2
347981242022CYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).3
349235102022PREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.4
364374552022CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated with ischemic stroke in Chinese Han population.2
336363992021Genotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.6
339643742021New compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.0
343102582021Crystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.1

Citation

Dessen P

CYP4V2 (cytochrome P450 family 4 subfamily V member 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62267/cyp4v2-(cytochrome-p450-family-4-subfamily-v-member-2)