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Database:

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Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.


RefSeq Accession Definition Sequence Price Select
NM_207352 Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA. Full Lenth $1649.55
ORF Sequence $457.62


RefSeq Version NM_207352.3, 187960085
Length 4713 bp
Structure linear
Update Date 12-MAR-2011
Organism Homo sapiens (human)
Definition Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA.
Product cytochrome P450 4V2
Comment

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 acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq].

RefSeq NP_997235.3
CDS 305..1882
Exon (1)1..518
Exon (2)1..518
Exon (3)519..631
Exon (4)632..717
Exon (5)718..908
Exon (6)909..978
Exon (7)979..1105
Exon (8)1106..1291
Exon (9)1292..1394
Exon (10)1395..1529
Exon (11)1530..1709
Exon (12)1710..4704
Translation MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLV GHALLMKPDGREFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDK SSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKH INQEAFNCFFYITLCALDIICETAMGKNIGAQSNDDSEYVRAVYRMSEMIFRRIKMPWLW LDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANEDCRGDGRGSAPSKNKRRAFL DLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPEVQKKVDHELD DVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAV IIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTI LSCILRHFWIESNQKREELGLEGQLILRPSNGIWIKLKRRNADER
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Position Chain Variation Link
9+a, cdbSNP:7662717
90+a, cdbSNP:72646235
94+a, gdbSNP:13133462
110+a, gdbSNP:13133627
complement(153)-t, cdbSNP:2241819
complement(159)-g, adbSNP:1398007
184+a, tdbSNP:113853162
217+a, gdbSNP:13133834
219+g, tdbSNP:13133836
265+c, tdbSNP:72646236
346+c, gdbSNP:13134094
complement(368)-g, cdbSNP:1055138
434+a, tdbSNP:119103282
485+a, gdbSNP:119103285
636+c, tdbSNP:119103283
859+a, tdbSNP:11932764
875+a, tdbSNP:79128796
877+c, tdbSNP:78041259
914+a, gdbSNP:61745524
complement(942)-t, cdbSNP:34331648
1079+a, cdbSNP:13146272
1114+g, tdbSNP:3736455
1115+g, tdbSNP:17855071
1127+a, gdbSNP:34745240
1135+c, tdbSNP:72646276
1150+c, tdbSNP:3736456
1368+c, tdbSNP:112087566
1387+c, tdbSNP:10029149
1418+a, gdbSNP:61755911
1421+a, gdbSNP:58584561
1512+a, gdbSNP:113698661
1514+c, gdbSNP:4561961
1594+a, gdbSNP:113521707
1632+a, gdbSNP:72646291
complement(1642)-g, c, adbSNP:35524919
1648+c, tdbSNP:72646292
1827+a, gdbSNP:119103284
1840+c, tdbSNP:72646298
1886+c, tdbSNP:76978024
1900+a, gdbSNP:72646299
2047+g, tdbSNP:114656479
2076+c, tdbSNP:117569759
2176+c, gdbSNP:111657485
2246+g, tdbSNP:7697077
2457+c, tdbSNP:76247616
2525..2526+, adbSNP:112663578
2607+c, tdbSNP:10033577
2623+c, tdbSNP:10033581
2686+c, gdbSNP:11947390
2692+c, gdbSNP:11947391
2898+a, tdbSNP:34764575
2900..2905+, acacatdbSNP:36218597
2905..2906+, acacacdbSNP:71593686
2905..2906+, tadbSNP:33967801
2905+c, tdbSNP:62348764
2905+, tadbSNP:35178285
2914..2915+, acacacacdbSNP:71874900
2915..2916+, cacacacacadbSNP:72256351
2916..2917+, ac, acacacacdbSNP:67449345
2932+a, tdbSNP:75526967
2933+c, tdbSNP:74789741
2935+c, tdbSNP:62348765
2936..2937+, ttdbSNP:34962843
2938..2939+, caca, cacacacadbSNP:60425964
2939..2940+, tadbSNP:33963083
2939..2940+, ca, cacadbSNP:67036318
2939+c, tdbSNP:62348766
2939+, cacacacatacadbSNP:66511255
2940..2941+, acacdbSNP:67299512
2946..2947+, cacadbSNP:58524374
2947..2948+, cacadbSNP:72045526
2948..2949+c, tdbSNP:66511256
3030+a, gdbSNP:10011736
3118+a, tdbSNP:1053094
3356+g, tdbSNP:77175303
3385+a, cdbSNP:55678259
3520+a, gdbSNP:72646300
3619+a, gdbSNP:78965616
3639+a, gdbSNP:72646301
3663+a, cdbSNP:6842047
3988+g, tdbSNP:72646302
4107+c, tdbSNP:72647303
4109+a, tdbSNP:111883936
4171+g, tdbSNP:72647304
4281+c, tdbSNP:56413992
4335+c, tdbSNP:72647305
4472+c, tdbSNP:115296759
complement(4609)-t, adbSNP:11546669
4630+a, gdbSNP:111816209
Gene SymbolCYP4V2
Gene SynonymBCD; CYP4AH1; FLJ18432; MGC43534
Chromosome4
Locus Map4q35.2
All Transcripts NM_207352
Title Crystal deposits on the lens capsules in Bietti crystalline corneoretinal dystrophy associated with a mutation in the CYP4V2 gene .
Author Yokoi,Y., Nakazawa,M., Mizukoshi,S., Sato,K., Usui,T. and Takeuchi,K.
Journal Acta Ophthalmol 88 (5), 607-609 (2010)
Title Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score .
Author Rose,J.E., Behm,F.M., Drgon,T., Johnson,C. and Uhl,G.R.
Journal Mol. Med. 16 (7-8), 247-253 (2010)
Title Host determinants of HIV-1 control in African Americans .
Author Pelak,K., Goldstein,D.B., Walley,N.M., Fellay,J., Ge,D., Shianna,K.V., Gumbs,C., Gao,X., Maia,J.M., Cronin,K.D., Hussain,S.K., Carrington,M., Michael,N.L. and Weintrob,A.C.
Journal J. Infect. Dis. 201 (8), 1141-1149 (2010)
Title Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase .
Author Nakano,M., Kelly,E.J. and Rettie,A.E.
Journal Drug Metab. Dispos. 37 (11), 2119-2122 (2009)
Title Genetic variants associated with deep vein thrombosis: the F11 locus .
Author Li,Y., Bezemer,I.D., Rowland,C.M., Tong,C.H., Arellano,A.R., Catanese,J.J., Devlin,J.J., Reitsma,P.H., Bare,L.A. and Rosendaal,F.R.
Journal J. Thromb. Haemost. 7 (11), 1802-1808 (2009)
Title Screening for mutations in CYP4V2 gene in Japanese patients with Bietti's crystalline corneoretinal dystrophy .
Author Wada,Y., Itabashi,T., Sato,H., Kawamura,M., Tada,A. and Tamai,M.
Journal Am. J. Ophthalmol. 139 (5), 894-899 (2005)
Title Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2 .
Author Li,A., Jiao,X., Munier,F.L., Schorderet,D.F., Yao,W., Iwata,F., Hayakawa,M., Kanai,A., Shy Chen,M., Alan Lewis,R., Heckenlively,J., Weleber,R.G., Traboulsi,E.I., Zhang,Q., Xiao,X., Kaiser-Kupfer,M., Sergeev,Y.V. and Hejtmancik,J.F.
Journal Am. J. Hum. Genet. 74 (5), 817-826 (2004)
Title Comparison of cytochrome P450 (CYP) genes from the mouse and human genomes, including nomenclature recommendations for genes, pseudogenes and alternative-splice variants .
Author Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and Nebert,D.W.
Journal Pharmacogenetics 14 (1), 1-18 (2004)
Title The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment .
Author Clark,H.F., Gurney,A.L., Abaya,E., Baker,K., Baldwin,D., Brush,J., Chen,J., Chow,B., Chui,C., Crowley,C., Currell,B., Deuel,B., Dowd,P., Eaton,D., Foster,J., Grimaldi,C., Gu,Q., Hass,P.E., Heldens,S., Huang,A., Kim,H.S., Klimowski,L., Jin,Y., Johnson,S., Lee,J., Lewis,L., Liao,D., Mark,M., Robbie,E., Sanchez,C., Schoenfeld,J., Seshagiri,S., Simmons,L., Singh,J., Smith,V., Stinson,J., Vagts,A., Vandlen,R., Watanabe,C., Wieand,D., Woods,K., Xie,M.H., Yansura,D., Yi,S., Yu,G., Yuan,J., Zhang,M., Zhang,Z., Goddard,A., Wood,W.I., Godowski,P. and Gray,A.
Journal Genome Res. 13 (10), 2265-2270 (2003)
Title Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35 .
Author Jiao,X., Munier,F.L., Iwata,F., Hayakawa,M., Kanai,A., Lee,J., Schorderet,D.F., Chen,M.S., Kaiser-Kupfer,M. and Hejtmancik,J.F.
Journal Am. J. Hum. Genet. 67 (5), 1309-1313 (2000)

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