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


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_207352 Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA. GenEZ ORF Cloning On-demand $699.00 18

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RefSeq Version NM_207352.3, 187960085
Length 4713 bp
Structure linear
Update Date 17-APR-2013
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, Jul 2008].

RefSeq NP_997235.3
CDS 305..1882
Misc Feature(1)92..94
Misc Feature(2)341..403
Misc Feature(3)341..403
Misc Feature(4)467..1855
Misc Feature(5)641..1867
Exon (1)1..518
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (2)519..631
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (3)632..717
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (4)718..908
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (5)909..978
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (6)979..1105
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (7)1106..1291
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (8)1292..1394
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (9)1395..1529
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (10)1530..1709
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Exon (11)1710..4704
Gene:CYP4V2
Gene Synonym:BCD; CYP4AH1
Translation MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKWQQMRPIPTVARAYPLV GHALLMKPDGREFFQQIIEYTEEYRHMPLLKLWVGPVPMVALYNAENVEVILTSSKQIDK SSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFTILEDFLDIMNEQANILVKKLEKH INQEAFNCFFYITLCALDIICETAMGKNIGAQSNDDSEYVRAVYRMSEMIFRRIKMPWLW LDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEMNANEDCRGDGRGSAPSKNKRRAFL DLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTTAAAINWSLYLLGSNPEVQKKVDHELD DVFGKSDRPATVEDLKKLRYLECVIKETLRLFPSVPLFARSVSEDCEVAGYRVLKGTEAV IIPYALHRDPRYFPNPEEFQPERFFPENAQGRHPYAYVPFSAGPRNCIGQKFAVMEEKTI LSCILRHFWIESNQKREELGLEGQLILRPSNGIWIKLKRRNADER
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Position Chain Variation Link
9+dbSNP:
9+a, cdbSNP:7662717
20+a, tdbSNP:180866229
90+a, cdbSNP:72646235
94+a, gdbSNP:13133462
110+a, gdbSNP:13133627
153+c, tdbSNP:2241819
159+a, gdbSNP:1398007
175+, cdbSNP:200054565
184+a, tdbSNP:113853162
217+a, gdbSNP:13133834
219+g, tdbSNP:13133836
265+c, tdbSNP:72646236
328+c, tdbSNP:202148693
346+c, gdbSNP:13134094
348+c, tdbSNP:200010109
368+c, gdbSNP:1055138
403+a, gdbSNP:145611966
420+c, gdbSNP:200834925
434+a, tdbSNP:119103282
485+a, gdbSNP:119103285
487+c, gdbSNP:200327267
541+dbSNP:
541+g, tdbSNP:199476185
544+c, tdbSNP:138173968
557+c, tdbSNP:199476186
568+g, tdbSNP:201610304
574+a, gdbSNP:192920673
586+c, tdbSNP:142775374
587+a, gdbSNP:199476187
606+c, tdbSNP:143272248
636+dbSNP:
636+c, tdbSNP:119103283
639+g, tdbSNP:199476188
657+c, tdbSNP:148330760
671+a, gdbSNP:149684063
704+g, tdbSNP:199476189
759+dbSNP:
759+a, cdbSNP:141483919
822+g, tdbSNP:199476190
824+a, gdbSNP:150875391
845+a, gdbSNP:201006021
846+a, tdbSNP:138297987
859+a, tdbSNP:11932764
875+a, tdbSNP:79128796
877+c, tdbSNP:78041259
914+dbSNP:
914+a, gdbSNP:61745524
942+c, tdbSNP:34331648
946+g, tdbSNP:200664958
959+c, tdbSNP:199476191
1063..1064+dbSNP:
1063..1064+, acdbSNP:199476192
1065+a, gdbSNP:199476193
1079+a, cdbSNP:13146272
1114+dbSNP:
1114+g, tdbSNP:3736455
1115+g, tdbSNP:17855071
1127+a, gdbSNP:34745240
1135+c, tdbSNP:72646276
1136+a, gdbSNP:142136741
1150+c, tdbSNP:3736456
1159+c, tdbSNP:200103451
1206+a, cdbSNP:140344168
1255+a, cdbSNP:144129557
1262+c, tdbSNP:199476194
1275+a, tdbSNP:199476195
1277+a, gdbSNP:200916028
1278+c, tdbSNP:199476196
1296+dbSNP:
1296+a, cdbSNP:199476197
1324+a, gdbSNP:199476198
1325+c, tdbSNP:199476199
1327+c, tdbSNP:191481105
1368+c, tdbSNP:112087566
1371+a, gdbSNP:146521931
1383+a, gdbSNP:202202084
1387+c, tdbSNP:10029149
1400+dbSNP:
1400+c, tdbSNP:200636986
1406+c, tdbSNP:150187626
1407+a, gdbSNP:138739819
1412+a, gdbSNP:182965036
1418+a, gdbSNP:61755911
1421+a, gdbSNP:58584561
1461+a, cdbSNP:199476200
1473+a, gdbSNP:199476201
1488+c, tdbSNP:143711287
1491+c, tdbSNP:199476202
1502+c, tdbSNP:138444697
1503+a, gdbSNP:199476203
1512+a, gdbSNP:113698661
1514+c, gdbSNP:4561961
1521+a, gdbSNP:201644385
1593+dbSNP:
1593+c, tdbSNP:144008429
1594+a, gdbSNP:113521707
1612+c, tdbSNP:139324591
1632+a, gdbSNP:72646291
1633+a, gdbSNP:150506310
1642+a, c, gdbSNP:35524919
1643+a, gdbSNP:200623218
1648+c, tdbSNP:72646292
1652+c, tdbSNP:199476204
1659+a, gdbSNP:149681054
1671+c, gdbSNP:144501601
1676+a, gdbSNP:202204817
1689+c, tdbSNP:139270994
1697+a, gdbSNP:144109267
1749+dbSNP:
1749+a, c, tdbSNP:146494374
1750+a, gdbSNP:141950964
1759+a, gdbSNP:141099331
1797+a, cdbSNP:142244984
1827+a, gdbSNP:119103284
1830+c, tdbSNP:199476205
1840+c, tdbSNP:72646298
1861+a, gdbSNP:200291603
1871+a, gdbSNP:201425369
1877+c, tdbSNP:140450256
1886+c, tdbSNP:76978024
1900+a, gdbSNP:72646299
2042+a, gdbSNP:187506967
2057+a, gdbSNP:192122143
2080+a, tdbSNP:150697121
2081+, tdbSNP:199938898
2092..2093+, tdbSNP:200614627
2093+g, tdbSNP:199650846
2094+a, gdbSNP:200927762
2114+a, gdbSNP:145900260
2176+c, gdbSNP:111657485
2246+g, tdbSNP:7697077
2274+a, gdbSNP:185369023
2328+c, tdbSNP:190708337
2525..2526+, adbSNP:112663578
2561+a, gdbSNP:142737300
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+, acacac, tadbSNP:33967801
2905+c, tdbSNP:62348764
2905+, tadbSNP:35178285
2906..2907+, acacacacdbSNP:71874900
2915..2916+, cacacacacadbSNP:72256351
2916..2917+, ac, acacacacdbSNP:67449345
2932+a, tdbSNP:75526967
2933+c, tdbSNP:74789741
2935..2936+, atdbSNP:144125100
2935+c, tdbSNP:62348765
2936..2937+, ttdbSNP:34962843
2938..2939+, at, caca, cacacaca, cacatacadbSNP:60425964
2939..2940+, acac, ca, caca, tadbSNP:33963083
2939+, cacacacatacadbSNP:66511255
2939+c, tdbSNP:62348766
2940..2941+, acacdbSNP:67299512
2943..2944+, cacadbSNP:72045526
2946..2947+, cacadbSNP:58524374
2948..2949+c, tdbSNP:66511256
3030+a, gdbSNP:10011736
3118+a, tdbSNP:1053094
3120+c, tdbSNP:180813595
3306+c, gdbSNP:184600205
3334+c, tdbSNP:188672178
3356+g, tdbSNP:77175303
3385+a, cdbSNP:55678259
3387+a, cdbSNP:181411702
3409+a, gdbSNP:149432349
3471+c, tdbSNP:144839540
3520+a, gdbSNP:72646300
3619+a, gdbSNP:78965616
3631+a, gdbSNP:142738831
3639+a, gdbSNP:72646301
3663+a, cdbSNP:6842047
3804+a, gdbSNP:185743702
3868+a, gdbSNP:146050895
3892+a, gdbSNP:190455204
3982+a, gdbSNP:182068864
3988+g, tdbSNP:72646302
4046+g, tdbSNP:187044798
4048+c, gdbSNP:192436436
4107+c, tdbSNP:72647303
4109+a, tdbSNP:111883936
4171+g, tdbSNP:72647304
4281+c, tdbSNP:56413992
4335+c, tdbSNP:72647305
4437+a, gdbSNP:150772109
4460+c, tdbSNP:182480786
4594+a, cdbSNP:186811068
4609+a, tdbSNP:11546669
4630+a, gdbSNP:111816209
Gene SymbolCYP4V2
Gene SynonymBCD; CYP4AH1
Chromosome4
Locus Map4q35.2
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_207352 Homo sapiens cytochrome P450, family 4, subfamily V, polypeptide 2 (CYP4V2), mRNA. On-demand $699.00 18
Title Clinical and genetic features in Italian Bietti crystalline dystrophy patients .
Author Rossi,S., Testa,F., Li,A., Yaylacioglu,F., Gesualdo,C., Hejtmancik,J.F. and Simonelli,F.
Journal Br J Ophthalmol 97 (2), 174-179 (2013)
Title The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages .
Author Liu,D.N., Liu,Y., Meng,X.H. and Yin,Z.Q.
Journal Graefes Arch. Clin. Exp. Ophthalmol. 250 (2), 191-200 (2012)
Title Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis .
Author Inouye,M., Ripatti,S., Kettunen,J., Lyytikainen,L.P., Oksala,N., Laurila,P.P., Kangas,A.J., Soininen,P., Savolainen,M.J., Viikari,J., Kahonen,M., Perola,M., Salomaa,V., Raitakari,O., Lehtimaki,T., Taskinen,M.R., Jarvelin,M.R., Ala-Korpela,M., Palotie,A. and de Bakker,P.I.
Journal PLoS Genet. 8 (8), E1002907 (2012)
Title Exome sequencing identifies compound heterozygous mutations in CYP4V2 in a pedigree with retinitis pigmentosa .
Author Wang,Y., Guo,L., Cai,S.P., Dai,M., Yang,Q., Yu,W., Yan,N., Zhou,X., Fu,J., Guo,X., Han,P., Wang,J. and Liu,X.
Journal PLoS ONE 7 (5), E33673 (2012)
Title Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation .
Author Haddad,N.M., Waked,N., Bejjani,R., Khoueir,Z., Chouery,E., Corbani,S. and Megarbane,A.
Journal Mol. Vis. 18, 1182-1188 (2012)
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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