Property Summary

NCBI Gene PubMed Count 38
PubMed Score 481.83
PubTator Score 807.36

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma -1.399 3.9e-03
group 4 medulloblastoma -1.600 2.4e-06
medulloblastoma, large-cell -2.500 6.4e-06
pancreatic ductal adenocarcinoma liver m... -2.260 9.8e-04
tuberculosis 1.200 3.5e-04
non-small cell lung cancer -1.496 1.9e-16
cystic fibrosis 1.100 1.3e-03
Breast cancer -1.400 2.3e-06
ovarian cancer -1.900 2.5e-05
chronic rhinosinusitis -1.001 2.2e-02

Protein-protein Interaction (2)

Gene RIF (31)

PMID Text
26521715 In Bietti crystalline dystrophy patients with CYP4V2 mutations, cone density remained for visual dysfunction by evaluation using high-resolution AO-SLO.
25593508 Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with Bietti's crystalline dystrophy.
24739949 cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2) c.219T>A (p.F73L) mutation may be a recurrent mutation in Chinese patients with Bietti crystalline dystrophy (BCD).
24480711 Likely disease-causing variants were identified in 34 chromosomes from 17 families. Seven were novel, including p.Met66Arg, found in all 11 patients from 8 families of South Asian descent.
23793346 This finding suggests that the crystals in the lens of patients with Bietti crystalline corneoretinopathy may be produced in the same way as corneal or retinal crystalline deposits and therefore result from a systemic abnormality of lipid metabolism.
23538635 The authors identified a case of Bietti crystalline dystrophy with central and paracentral keratopathy and the molecular analysis of the causative gene in a Spanish family.
23242590 The entire coding region and adjacent intronic regions of the CYP4V2 gene were sequenced. Five mutations were identified in the 29-year-old male with Bietti's crystalline dystrophy.
23221965 Sequencing of CYP4V2 revealed nine sequence variants in four unrelated families and six isolated individuals with BCD.
22693542 Compound heterozygous c.802-8_810del17insGC and c.1091-2A>G mutations of the CYP4V2 gene were identified as causative mutations for retinitis pigmentosa
22605929 Two mutations in CYP4V2 were found in three Lebanese families with Bietti crystalline dystrophy: p.I111T (c.332T>C) in exon 3 in two families and the novel p.V458M (c.1372G>A) mutation in exon 9 in one family.
21892605 This study identified the most sensitive functional methods for assessing Bietti's crystalline dystrophy patients, and the significance of pupillary light reflex in the advanced stages.
21850171 Four novel benign variations in the CYP4V2 gene (three in exons and one in an intron) were observed in the patient cohort with Bietti crystalline dystrophy associated with choroidal neovascularization.
21565171 these results expand the mutation spectrum of CYP4V2 and demonstrate an overview of the CYP4V2 mutation spectrum and its frequency in families with Bietti crystalline corneoretinal dystrophy.
21540472 REVIEW: genetic analyses have identified a wide spectrum of mutations in the CYP4V2gene from patients suffering from Bietti's crystalline corneoretinal dystrophy, and mutations in theCYP4F22 gene have been linked to lamellar ichthyosis
21385027 We describe a patient with Bietti crystalline dystrophy with a CYP4V2 gene mutation and typical leukocyte inclusions who showed the classical retinal lesions but had a normal electroretinogram.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20205591 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19661213 Defective omega-oxidation of ocular fatty acids/lipids secondary to mutations in the CYP4V2 gene appears to be a plausible mechanism underlying the abnormal lipid metabolism of Bietti's crystalline dystrophy.
19583818 Observational study of gene-disease association. (HuGE Navigator)
19508456 crystal-like deposits may appear on the lens capsule of patients with Bietti crystalline corneoretinal dystrophy(BCD) associated with a mutation in the CYP4V2 gene.
19278955 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
18349091 Observational study of gene-disease association. (HuGE Navigator)
18349091 SNPs in the region around the SNP in CYP4V2 (rs13146272) were associated with both deep vein thrombosis and factor XI levels.
17962476 BCD (Bietti's crystalline dystrophy) patients with homozygous IVS6-8del17bp/insGC or compound heterozygous IVS6-8del17bp/insGC and IVS8-2A>G mutations appeared to have more severe disease phenotype based on electrophysiological testing.
17249554 CYP4V2 gene mutations may have a role in Bietti crystalline corneoretinal dystrophy
17013694 A homozygous mutation was identified in two of the unrelated patients, and only a heterozygous change was detected in the third. These data indicate that c.802-8del17bp/insGC may be a frequent mutation in CYP4V2 gene
16186368 This study identified novel mutations in the CYP4V2 gene as a cause of BCD. A high carrier frequency for the 15-bp deletion in exon 7 may exist in the Singapore population.
16179904 Our finding expands the spectrum of CYP4V2 mutations causing BCD, and further confirms the role of CYP4V2 in the pathogenesis of BCD (Bietti crystalline corneoretinal dystrophy).
16088246 In two patients, a homozygous and compound heterozygote, deletion/insertion mutations and novel nonsense (p.W340X) mutations were identified.
15860296 Our findings suggest that the IVS6 to 8delTCATACAGGTCATCGCG/insGC mutation is a common mutation in Japanese patients with BCD (Bietti's crystalline corneoretinal dystrophy)
15042513 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

AA Sequence

MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLVGHALLMKPDG      1 - 70
REFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDKSSMYKFLEPWLGLGLLTSTG     71 - 140
NKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKHINQEAFNCFFYITLCALDIICETAMGKNIG    141 - 210
AQSNDDSEYVRAVYRMSEMIFRRIKMPWLWLDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANE    211 - 280
DCRGDGRGSAPSKNKRRAFLDLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPE    281 - 350
VQKKVDHELDDVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAV    351 - 420
IIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTILSCILRHFWI    421 - 490
ESNQKREELGLEGQLILRPSNGIWIKLKRRNADER                                       491 - 525
//

Text Mined References (40)

PMID Year Title
26521715 2016 Evaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.
25593508 2014 Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
24739949 2014 Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.
24480711 2014 Detailed phenotypic and genotypic characterization of bietti crystalline dystrophy.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23793346 2013 Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene.
23538635 2013 Genotype-phenotype analysis of Bietti crystalline dystrophy in a family with the CYP4V2 Ile111Thr mutation.
23242590 2013 A novel mutation in the CYP4V2 gene in a Chinese patient with Bietti's crystalline dystrophy.
23221965 2013 Clinical and genetic features in Italian Bietti crystalline dystrophy patients.
22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
22772592 2012 CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ?-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant.
22693542 2012 Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa.
22605929 2012 Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation.
21892605 2012 The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages.
21850171 2011 Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization.
21565171 2011 Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy.
21540472 2011 Finding homes for orphan cytochrome P450s: CYP4V2 and CYP4F22 in disease states.
21385027 2011 An atypical form of Bietti crystalline dystrophy.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20205591 2010 Host determinants of HIV-1 control in African Americans.
19661213 2009 Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase.
19583818 2009 Genetic variants associated with deep vein thrombosis: the F11 locus.
19508456 2010 Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene.
19278955 2009 Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.
18349091 2008 Gene variants associated with deep vein thrombosis.
17962476 2007 Genotype phenotype analysis of Bietti's crystalline dystrophy in patients with CYP4V2 mutations.
17249554 2006 Bietti crystalline corneoretinal dystrophy associated with CYP4V2 gene mutations.
17013694 Clinical and molecular findings in three Japanese patients with crystalline retinopathy.
16186368 2005 Characterization of Bietti crystalline dystrophy patients with CYP4V2 mutations.
16179904 2005 Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy.
16088246 CYP4V2 mutations in two Japanese patients with Bietti's crystalline dystrophy.
15860296 2005 Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15128046 2004 Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants.
15042513 2004 Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11001583 2000 Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.