LOCUS       NM_207352               4657 bp    mRNA    linear   PRI 08-OCT-2024
DEFINITION  Homo sapiens cytochrome P450 family 4 subfamily V member 2
            (CYP4V2), mRNA.
ACCESSION   NM_207352
VERSION     NM_207352.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 4657)
  AUTHORS   Huang,K., Ma,T., Li,Q., Zhong,Z., Zhou,Y., Zhang,W., Qin,T.,
            Tang,S., Zhong,J. and Lu,S.
  TITLE     CYP4V2 rs56413992 C > T was associated with the risk of coronary
            heart disease in the Chinese Han population: a case-control study
  JOURNAL   BMC Med Genomics 16 (1), 322 (2023)
   PUBMED   38066650
  REMARK    GeneRIF: CYP4V2 rs56413992 C > T was associated with the risk of
            coronary heart disease in the Chinese Han population: a
            case-control study.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 4657)
  AUTHORS   Hanany,M., Yang,R.R., Lam,C.M., Beryozkin,A., Sundaresan,Y. and
            Sharon,D.
  TITLE     An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic
            Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline
            Dystrophy
  JOURNAL   Transl Vis Sci Technol 12 (2), 27 (2023)
   PUBMED   36795063
  REMARK    GeneRIF: An In-Depth Single-Gene Worldwide Carrier Frequency and
            Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti
            Crystalline Dystrophy.
REFERENCE   3  (bases 1 to 4657)
  AUTHORS   Triamchaisri,N., Toochinda,P. and Lawtrakul,L.
  TITLE     Structural 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
  JOURNAL   Int J Mol Sci 24 (2), 1525 (2023)
   PUBMED   36675035
  REMARK    GeneRIF: Structural 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.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 4657)
  AUTHORS   Long,F., Wang,D., Su,Q., Zhang,Y., Li,J., Xia,S., Wang,H., Wu,Y.
            and Qu,Q.
  TITLE     CYP4 subfamily V member 2 (CYP4V2) polymorphisms were associated
            with ischemic stroke in Chinese Han population
  JOURNAL   BMC Med Genomics 15 (1), 246 (2022)
   PUBMED   36437455
  REMARK    GeneRIF: CYP4 subfamily V member 2 (CYP4V2) polymorphisms were
            associated with ischemic stroke in Chinese Han population.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 4657)
  AUTHORS   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.
  TITLE     Bietti crystalline corneoretinal dystrophy is caused by mutations
            in the novel gene CYP4V2
  JOURNAL   Am J Hum Genet 74 (5), 817-826 (2004)
   PUBMED   15042513
  REMARK    GeneRIF: Bietti crystalline corneoretinal dystrophy is caused by
            mutations in the novel gene CYP4V2
REFERENCE   6  (bases 1 to 4657)
  AUTHORS   Nelson,D.R., Zeldin,D.C., Hoffman,S.M., Maltais,L.J., Wain,H.M. and
            Nebert,D.W.
  TITLE     Comparison of cytochrome P450 (CYP) genes from the mouse and human
            genomes, including nomenclature recommendations for genes,
            pseudogenes and alternative-splice variants
  JOURNAL   Pharmacogenetics 14 (1), 1-18 (2004)
   PUBMED   15128046
  REMARK    Review article
REFERENCE   7  (bases 1 to 4657)
  AUTHORS   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.
  TITLE     The secreted protein discovery initiative (SPDI), a large-scale
            effort to identify novel human secreted and transmembrane proteins:
            a bioinformatics assessment
  JOURNAL   Genome Res 13 (10), 2265-2270 (2003)
   PUBMED   12975309
  REMARK    Erratum:[Genome Res. 2003 Dec;13(12):2759]
REFERENCE   8  (bases 1 to 4657)
  AUTHORS   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.
  TITLE     Genetic linkage of Bietti crystallin corneoretinal dystrophy to
            chromosome 4q35
  JOURNAL   Am J Hum Genet 67 (5), 1309-1313 (2000)
   PUBMED   11001583
REFERENCE   9  (bases 1 to 4657)
  AUTHORS   Vargas,M., Mitchell,A., Yang,P. and Weleber,R.
  TITLE     Bietti Crystalline Dystrophy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   22497028
REFERENCE   10 (bases 1 to 4657)
  AUTHORS   Fahim,A.T., Daiger,S.P. and Weleber,R.G.
  TITLE     Nonsyndromic Retinitis Pigmentosa Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301590
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY422002.1, BC060857.1,
            AC110771.3 and AA918796.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 22, 2018 this sequence version replaced NM_207352.3.
            
            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].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1803614.282586.1,
                                           SRR1803614.32044.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000378802.5/ ENSP00000368079.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-106               AY422002.1         48-153
            107-1031            BC060857.1         20-944
            1032-1032           AC110771.3         65889-65889
            1033-1066           BC060857.1         946-979
            1067-1067           AC110771.3         67997-67997
            1068-1995           BC060857.1         981-1908
            1996-4239           AC110771.3         77634-79877
            4240-4657           AA918796.1         10-427              c
FEATURES             Location/Qualifiers
     source          1..4657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="4"
                     /map="4q35.1-q35.2"
     gene            1..4657
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /note="cytochrome P450 family 4 subfamily V member 2"
                     /db_xref="GeneID:285440"
                     /db_xref="HGNC:HGNC:23198"
                     /db_xref="MIM:608614"
     exon            1..471
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     CDS             258..1835
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /EC_number="1.14.14.79"
                     /EC_number="1.14.14.80"
                     /note="docosahexaenoic acid omega-hydroxylase CYP4V2;
                     cytochrome P450, family 4, subfamily V, polypeptide 2;
                     long-chain fatty acid omega-monooxygenase"
                     /codon_start=1
                     /product="cytochrome P450 4V2"
                     /protein_id="NP_997235.3"
                     /db_xref="CCDS:CCDS34119.1"
                     /db_xref="GeneID:285440"
                     /db_xref="HGNC:HGNC:23198"
                     /db_xref="MIM:608614"
                     /translation="MAGLWLGLVWQKLLLWGAASALSLAGASLVLSLLQRVASYARKW
                     QQMRPIPTVARAYPLVGHALLMKPDGREFFQQIIEYTEEYRHMPLLKLWVGPVPMVAL
                     YNAENVEVILTSSKQIDKSSMYKFLEPWLGLGLLTSTGNKWRSRRKMLTPTFHFTILE
                     DFLDIMNEQANILVKKLEKHINQEAFNCFFYITLCALDIICETAMGKNIGAQSNDDSE
                     YVRAVYRMSEMIFRRIKMPWLWLDLWYLMFKEGWEHKKSLQILHTFTNSVIAERANEM
                     NANEDCRGDGRGSAPSKNKRRAFLDLLLSVTDDEGNRLSHEDIREEVDTFMFEGHDTT
                     AAAINWSLYLLGSNPEVQKKVDHELDDVFGKSDRPATVEDLKKLRYLECVIKETLRLF
                     PSVPLFARSVSEDCEVAGYRVLKGTEAVIIPYALHRDPRYFPNPEEFQPERFFPENAQ
                     GRHPYAYVPFSAGPRNCIGQKFAVMEEKTILSCILRHFWIESNQKREELGLEGQLILR
                     PSNGIWIKLKRRNADER"
     exon            472..584
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            585..670
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            671..861
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            862..931
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            932..1058
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1059..1244
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1245..1347
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1348..1482
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1483..1662
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     exon            1663..4657
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      4183..4188
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /note="hexamer: AATAAA"
     polyA_site      4205
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /note="major polyA site"
     regulatory      4518..4523
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /note="hexamer: AATAAA"
     polyA_site      4539
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
     regulatory      4635..4640
                     /regulatory_class="polyA_signal_sequence"
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
                     /note="hexamer: AATAAA"
     polyA_site      4657
                     /gene="CYP4V2"
                     /gene_synonym="BCD; CYP4AH1"
ORIGIN      
        1 cggtctttcg ctttcggctg gggcgtggag gccgcggtgc tgcgtaggcc gggccgggcg
       61 caggaacagc cccgtggcgc cctctctggc cgccgcccgg gcgggaaacg tcgttccggg
      121 gaccgggcga ccccgcagcg gggagcgcgc caggtccgcg cggggaagtg ggcggtgtgc
      181 ggccggcacc gcctcgcacc acgcccccgc gggcccgcac tttcccggag tgcaccccgc
      241 ggccgccagc cggggcgatg gcggggctct ggctggggct cgtgtggcag aagctgctgc
      301 tgtggggcgc ggcgagtgcc ctttccctgg ccggcgccag tctggtcctg agcctgctgc
      361 agagggtggc gagctacgcg cggaaatggc agcagatgcg gcccatcccc acggtggccc
      421 gcgcctaccc actggtgggc cacgcgctgc tgatgaagcc ggacgggcga gaattttttc
      481 agcagatcat tgagtacaca gaggaatacc gccacatgcc gctgctgaag ctctgggtcg
      541 ggccagtgcc catggtggcc ctttataatg cagaaaatgt ggaggtaatt ttaactagtt
      601 caaagcaaat tgacaaatcc tctatgtaca agtttttaga accatggctt ggcctaggac
      661 ttcttacaag tactggaaac aaatggcgct ccaggagaaa gatgttaaca cccactttcc
      721 attttaccat tctggaagat ttcttagata tcatgaatga acaagcaaat atattggtta
      781 agaaacttga aaaacacatt aaccaagaag catttaactg ctttttttac atcactcttt
      841 gtgccttaga tatcatctgt gaaacagcta tggggaagaa tattggtgct caaagtaatg
      901 atgattccga gtatgtccgt gcagtttata gaatgagtga gatgatattt cgaagaataa
      961 agatgccctg gctttggctt gatctctggt accttatgtt taaagaagga tgggaacaca
     1021 aaaagagcct tcagatccta catactttta ccaacagtgt catcgctgaa cgggccaatg
     1081 aaatgaacgc caatgaagac tgtagaggtg atggcagggg ctctgccccc tccaaaaata
     1141 aacgcagggc ctttcttgac ttgcttttaa gtgtgactga tgacgaaggg aacaggctaa
     1201 gtcatgaaga tattcgagaa gaagttgaca ccttcatgtt tgaggggcac gatacaactg
     1261 cagctgcaat aaactggtcc ttatacctgt tgggttctaa cccagaagtc cagaaaaaag
     1321 tggatcatga attggatgac gtgtttggga agtctgaccg tcccgctaca gtagaagacc
     1381 tgaagaaact tcggtatctg gaatgtgtta ttaaggagac ccttcgcctt tttccttctg
     1441 ttcctttatt tgcccgtagt gttagtgaag attgtgaagt ggcaggttac agagttctaa
     1501 aaggcactga agccgtcatc attccctatg cattgcacag agatccgaga tacttcccca
     1561 accccgagga gttccagcct gagcggttct tccccgagaa tgcacaaggg cgccatccat
     1621 atgcctacgt gcccttctct gctggcccca ggaactgtat aggtcaaaag tttgctgtga
     1681 tggaagaaaa gaccattctt tcgtgcatcc tgaggcactt ttggatagaa tccaaccaga
     1741 aaagagaaga gcttggtcta gaaggacagt tgattcttcg tccaagtaat ggcatctgga
     1801 tcaagttgaa gaggagaaat gcagatgaac gctaactata ttattgggtt gtgcctttat
     1861 catgagaaag gtctttattt taagagatcc ttgtcattta caatttacag atcatgagtt
     1921 caatatgctt gaatccccta gacctaattt ttccttgatc ccactgatct tgacatcaag
     1981 tctaacaaag aaaaagtttt gagttttgta ttttcttttt tcttttttct ttattttttt
     2041 tttttgaaac cgtgtctcac tctgtcgccc aggctggagg agtgcagtgg tgtgatctca
     2101 gctcactgca acctccacct cccaggttca agcaattctt ctgcctcagc ctcccaagta
     2161 gctgggatta caggtgcctg ccaccatgcc tggctaattt ttttgtattt ttagtagaaa
     2221 cagggtgtca ccatgttggc cagactggtc tcaaactcct gacctcaagt gatccacctg
     2281 cctcagcctc ccaaagtgct gggattatag tcgtgagcca ccacgcctgg ccagagtttt
     2341 ttatttttat caccaccata gatgttacag ttggctgtgg tcacaaaagt agttaattgt
     2401 gtcagcaccc aaataaacat ctaacaggtt tctcaacaga ggaatccaca gtccaattcc
     2461 acttcaattg atagacccaa aaaatataat ttaatcaaag ttctagagtt tttgtttgtt
     2521 tgtttgagat ggagtcttgc tctgtcgccc aggctggaac gcagtggtga catctcggct
     2581 cactgcaacc tccacctccc aggttcaagt gattctcctg cctcagcctc ctgagtagct
     2641 gggactacag gcgcctgcca ccacgcccag ctaatttttg tatttttagt agagatgggg
     2701 tttcaccatg ttggccagga tggtcttgat ctcttgacct cgtgatctgc ctgcctcggc
     2761 ctcccaaagt gctggcatta caggcatgag ccaccatgcc tggcccaaag ttctagaatt
     2821 ttttaaaggt attcatggtg actcaggaat acacacatac acacacacac acacacacac
     2881 acacacacac atacacacat ataatttgaa agaggtgagt atgtactctg acttcagctc
     2941 tcaggtttta aaaattatat tagtgggacc agttatgaca agaataatca ttatagtact
     3001 tttcagattt tataacctgg agcagattat tttaagttga ttagtaggtt ctgttacagt
     3061 ttttcttttg atcgtgcact tatagtcttc atttaattcc tcatagaatc ccagtcacct
     3121 ttatatatca tattattgga agagattcat cttcataatc tccagttttt tcacagtgcc
     3181 tcacagagtt aatcatgcct tttggagcta gaaggacttt agaacttatc tagttatgct
     3241 cctttatatt ataagtaagg gaatagaatc aataagacag tttctgccca aagtcatgtt
     3301 accagttggt gacagagctg gaaatacgta gagatctata cccttaaatc tctccactca
     3361 catgctgata tactttctac tacaatatgc tatagcttta tggaactcag ggtgatgatc
     3421 agacgtgtca ttagaacatg agtcctctgc ttctgattca ggcatacttt tgggattctt
     3481 ccatctttaa aggaaaaagg aagccattca tctatattta gtaacccagt aatatctcac
     3541 ttagtttagg gttagatctt tagttaattc aaccttatag atcatactta tgaaggtgat
     3601 aactgacacg tgttcactga attttaattt gataggcaat acatctaccc actccattat
     3661 tttttaaaac ttcatttaat agtttaaaca agattggttt tgttttcaat ttttattcac
     3721 tcttcataga atcacaatta cctttatata tcatatgtta ttggaagaga ttcctcagta
     3781 atctccaatc tctcatagtg cctcacaggg ttggtcaatg gcttttggaa ctggaaggac
     3841 cttagaactt atctgttatg ctcctgatag ccaatagcag atagaagctt gcaatcaaga
     3901 gggtaggaca tgtgttcttc aatggatatc aaaggaagag gttgcaaacc aaagccattt
     3961 ggcaagccct gtagcctggg ccatttaaga caggggcggt ctcagccaaa ttgcacccat
     4021 ttaactatcc caaagagcca cagtgcctac aacccaggcc ctaagttgat gaagaaaaag
     4081 tcaaggaagg aggtgataca attggaaata ttcccatcaa atggttaatc ttatttagaa
     4141 aatgggcata ttagaaaaag tccttccaag atgattttgg ataataaaag ttgtatttgt
     4201 ggaaattggt attatctctg ttttatgcac ttacatttat cccttacatt ttgtttttag
     4261 tgaccctaca tgacattaaa tttaaagtaa aacattgttt aatgttacct tttggcttga
     4321 gaatgtcttt cagctccaga attattgtta ctcatatttt aatcagtaag tcatttaagc
     4381 tatgacagag taggaattga gaaattattt catatgctac agtattgaaa tgtggatgct
     4441 gccttgtttt ataagaagat gatcaaggtt tgtgtgccca ttacctttcc tctgcctgaa
     4501 agacgtgtct caagaaaaat aaattctatt ttagatgcag gtactgcatt ttattctaag
     4561 aattgatatc aattcaaaac atagaaaact gtaaaagata aatcaggaga tggctgattc
     4621 ataatgggta ataaaataaa tagcactttc gagctga
//
