CYP4V2 (cytochrome P450 family 4 subfamily V member 2)

2014-11-01  

Identity

HGNC
CYP4V2
LOCATION
4q35.1
LOCUSID
285440
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
192789552009Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.88
202055912010Host determinants of HIV-1 control in African Americans.80
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
195838182009Genetic variants associated with deep vein thrombosis: the F11 locus.28
215404722011Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.13
284536002017Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes.2
150425132004Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.0
158602962005Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.0
160882462005CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.0
161799042005Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.0

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)