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CYP4V2 Gene

protein-coding   GIFtS: 56
GCID: GC04P187112

Cytochrome P450, Family 4, Subfamily V, Polypeptide 2

  See CYP4V2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cytochrome P450, Family 4, Subfamily V, Polypeptide 21 2
BCD2 5
CYP4AH12
Cytochrome P450 4V22
EC 1.14.13.-3
EC 1.14.14.18

External Ids:    HGNC: 231981   Entrez Gene: 2854402   Ensembl: ENSG000001454767   OMIM: 6086145   UniProtKB: Q6ZWL33   

Export aliases for CYP4V2 gene to outside databases

Previous GC identifers: GC00U916976 GC04P187488 GC04P187349 GC04P182864


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CYP4V2 Gene:
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)

GeneCards Summary for CYP4V2 Gene:
CYP4V2 (cytochrome P450, family 4, subfamily V, polypeptide 2) is a protein-coding gene. Diseases associated with CYP4V2 include bietti crystalline corneoretinal dystrophy, and corneal dystrophy. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F22.

UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3
Function: Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and
palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate
(C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye

Gene Wiki entry for CYP4V2 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000004.11  NT_016354.20  NC_018915.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CYP4V2 gene promoter:
         E2F-4   E2F-3a   HFH-3   E2F-5   AML1a   E2F-2   FOXI1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CYP4V2 promoter sequence
   Search Chromatin IP Primers for CYP4V2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CYP4V2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q35.2   Ensembl cytogenetic band:  4q35.2   HGNC cytogenetic band: 4q35.2

CYP4V2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CYP4V2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P187112:  view genomic region     (about GC identifiers)

Start:
187,112,674 bp from pter      End:
187,134,617 bp from pter
Size:
21,944 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3 (See protein sequence)
Recommended Name: Cytochrome P450 4V2  
Size: 525 amino acids; 60724 Da
Cofactor: Heme group (By similarity)
Secondary accessions: B7U6W2 Q6ZTM4
Alternative splicing: 2 isoforms:  Q6ZWL3-1   Q6ZWL3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CYP4V2: NX_Q6ZWL3

Explore proteomics data for CYP4V2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • 4 DME Specific Peptides for CYP4V2 (Q6ZWL3)
     RLFPSVP  ICETAMG  PFSAGPRNCIGQKFA  DIREEVDTFMFEGHDTT 


    See CYP4V2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_997235.3  
    ENSEMBL proteins: 
     ENSP00000368079  

    CYP4V2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CYP4V2

     
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CYP: Cytochrome P450s

    IUPHAR Guide to PHARMACOLOGY protein family classification: CYP4V2
    CYP4 family

    3 InterPro protein domains:
     IPR001128 Cyt_P450
     IPR017972 Cyt_P450_CS
     IPR002401 Cyt_P450_E_grp-I

    Graphical View of Domain Structure for InterPro Entry Q6ZWL3

    ProtoNet protein and cluster: Q6ZWL3

    UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3
    Similarity: Belongs to the cytochrome P450 family


    Find genes that share domains with CYP4V2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CP4V2_HUMAN, Q6ZWL3
    Function: Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and
    palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate
    (C14>C16>C12). May have a role in fatty acid and steroid metabolism in the eye
    Enzyme regulation: Inhibited by N-hydroxy-N'-(4-n-butyl-2-methylphenyl formamidine)(HET0016) with an IC(50) of 38
    nM
    Biophysicochemical properties: Kinetic parameters: KM=65 uM for myristic acid; KM=140 uM for lauric acid; KM=430
    uM for palmitic acid; Note=Vmax is the nearly the same for myristic acid and for lauric acid and reduced about
    30% for palmitic acid;

         Enzyme Numbers (IUBMB): EC 1.14.14.12 EC 1.14.13.-1

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004497monooxygenase activity IEA--
    GO:0005506iron ion binding IEA--
    GO:0016705oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen IEA--
    GO:0020037heme binding IEA--
         
    Find genes that share ontologies with CYP4V2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CYP4V2
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    miRNA
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    miRTarBase miRNAs that target CYP4V2:
    hsa-mir-192-5p (MIRT026579), hsa-mir-21-5p (MIRT030885), hsa-mir-92a-3p (MIRT049698)

    Block miRNA regulation of human, mouse, rat CYP4V2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP4V2 (see all 12):
    hsa-miR-142-5p hsa-miR-576-5p hsa-miR-607 hsa-miR-548am hsa-miR-526b hsa-miR-1236 hsa-miR-4306 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidCYP4V2 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CP4V2_HUMAN, Q6ZWL3: Endoplasmic reticulum membrane; Single-pass membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    extracellular2
    plasma membrane2
    cytosol1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with CYP4V2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CYP4V2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cytochrome P450 - arranged by substrate type
    cytochrome P4500.74
    2Biological oxidations
    metapathway biotransformation0.42


    2 BioSystems Pathways for CYP4V2
        cytochrome P450
    metapathway biotransformation


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CYP4V2
    Interactions:

        Search GeneGlobe Interaction Network for CYP4V2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 12)

    Selected Interacting proteins for CYP4V2 (Q6ZWL33 ENSP000003680794) via UniProtKB, MINT, STRING, and/or I2D (see all 12)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SIN3AQ96ST33, ENSP000003536224I2D: score=1 STRING: ENSP00000353622
    ZNF420ENSP000003387704STRING: ENSP00000338770
    LSSENSP000003487624STRING: ENSP00000348762
    SIGMAR1ENSP000002770104STRING: ENSP00000277010
    SQLEENSP000002658964STRING: ENSP00000265896
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007601visual perception IEA--
    GO:0010430fatty acid omega-oxidation IDA19661213
    GO:0050896response to stimulus IEA--
    GO:0055114oxidation-reduction process ----

    Find genes that share ontologies with CYP4V2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CYP4V2 (CP4V2)

    1 HMDB Compound for CYP4V2    About this table
    CompoundSynonyms CAS #PubMed Ids
    Heme(protoporphyrinato)iron (see all 19)14875-96-8--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CYP4V2 gene: 
    NM_207352.3  

    Unigene Cluster for CYP4V2:

    Cytochrome P450, family 4, subfamily V, polypeptide 2
    Hs.587231  [show with all ESTs]
    Unigene Representative Sequence: BX648730
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000378802 ENST00000507209(uc003iyw.4) ENST00000513354 ENST00000502665(uc010ism.3)

    miRNA
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    Block miRNA regulation of human, mouse, rat CYP4V2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CYP4V2 (see all 12):
    hsa-miR-142-5p hsa-miR-576-5p hsa-miR-607 hsa-miR-548am hsa-miR-526b hsa-miR-1236 hsa-miR-4306 hsa-miR-216b
    SwitchGear 3'UTR luciferase reporter plasmidCYP4V2 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat CYP4V2
      QuantiFast Probe-based Assays in human, mouse, rat CYP4V2

    Additional mRNA sequence: 

    AK022114.1 AK122600.1 AK311390.1 AY358619.1 AY422002.1 BC035933.1 BC038095.1 BC041839.1 
    BC048253.1 BC060857.1 BX648537.1 BX648730.1 

    10 DOTS entries:

    DT.102826597  DT.446328  DT.95232912  DT.444898  DT.101984008  DT.40314264  DT.40113585  DT.86852250 
    DT.95253746  DT.95264306 

    Selected AceView cDNA sequences (see all 139):

    BI756123 AW204514 BE326857 BM708812 CA841312 BQ030441 Z40642 BF726032 
    BU165839 AL691654 BC048253 AW275382 AA918796 AV727430 AI672659 CA841048 
    AI474341 AI186308 AA886755 AI081600 AI189514 AW467138 BM129212 AW418863 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CYP4V2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAGAGTGTT
    CYP4V2 Expression
    About this image


    CYP4V2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Brain (Nervous System)    fully expand to see all 10 entries
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
             Thalamus
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Neurons
             Adult Dopaminergic Neurons Substantia Nigra pars Compacta
     
     Blood (Hematopoietic System)
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
     
     Neural Tube (Nervous System)
             Diencephalic Ventricular Zone
    CYP4V2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CYP4V2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.587231

    UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3
    Tissue specificity: Broadly expressed. Detected in heart, brain, placenta, lung, liver, skeletal muscle, kidney,
    pancreas, retina, retinal pigment epithelium (RPE) and lymphocytes

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CYP4V2

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for CYP4V2 gene from Selected species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cyp4v31 , 5 cytochrome P450, family 4, subfamily v, polypeptide more1, 5 82.06(n)1
    82.06(a)1
      8 (25.17 cM)5
    1022941  NM_133969.21  NP_598730.11 
     452696715 
    chicken
    (Gallus gallus)
    Aves CYP4V21 cytochrome P450, family 4, subfamily V, polypeptide more 66.19(n)
    63.95(a)
      415121  NM_001001879.1  NP_001001879.1 
    lizard
    (Anolis carolinensis)
    Reptilia CYP4V26
    cytochrome P450, family 4, subfamily V, polypeptid...
    56(a)
    1 ↔ 1
    5(112192016-112229183)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.107922 Xenopus laevis CYP4V4 mRNA for Cytochrome P450, complete more 72.97(n)    AB114054.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cyp4v76
    cyp4v86
    cytochrome P450, family 4, subfamily V, polypeptid...
    cytochrome P450, family 4, subfamily V, polypeptid...
    63(a)
    59(a)
    1 ↔ many
    1 ↔ many
    14(30845056-30857343) ENSDARG00000061585
    1(16642201-16654540) ENSDARG00000062132
    fruit fly
    (Drosophila melanogaster)
    Insecta Cyp4c31 Cytochrome P450-4c3 53.44(n)
    51.36(a)
      43663  NM_079859.4  NP_524598.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cyp-32A11 cyp-32A1 53.08(n)
    48.2(a)
      179156  NM_072608.9  NP_505009.4 


    ENSEMBL Gene Tree for CYP4V2 (if available)
    TreeFam Gene Tree for CYP4V2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CYP4V2 gene
    CYP4F222  TBXAS12  CYP4F32  CYP4F22  CYP4F112  CYP3A432  CYP3A42  CYP4A222  
    CYP3A72  CYP4B12  CYP3A52  CYP4A112  CYP4Z12  CYP4F122  CYP4X12  
    Selected SIMAP similar genes for CYP4V2 using alignment to 2 protein entries:     CP4V2_HUMAN (see all proteins) (see all similar genes):
    CYP3A5    CYP1A1    CYP2C9    CYP4X1    CYP3A43/CYP3A4    CYP4F2
    CYP4F8    CYP2E1    CYP4F12    CYP4F22    CYP2G1P    CYP3A4
    CYP4A11    CYP4F3    CYP4A22    CYP4F11    CYP4Z1    DKFZp761K058

    Find genes that share paralogs with CYP4V2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CYP4V2 (see all 779)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1496840631,2,,4
    CBietti crystalline corneoretinal dystrophy (BCD)4 pathogenic1186876046(+) CCTCTA/GTGTAC 2 M V mis10--------
    VAR_0230844
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230842 W R mis40--------
    VAR_0230874
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230872 I T mis40--------
    VAR_0230864
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230862 E D mis40--------
    VAR_0230914
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230912 R H mis40--------
    VAR_0230894
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230892 H P mis40--------
    VAR_0230904
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230902 S P mis40--------
    VAR_0230854
    Bietti crystalline corneoretinal dystrophy (BCD)4--see VAR_0230852 G S mis40--------
    rs10551381,2,,4
    C,F,A,Hpathogenic1186871894(-) GGAAAG/CGGCAC 2 /L /V mis1 trp314Minor allele frequency- C:0.49MN NS NA CSA WA EA 859
    rs1191032821,2
    Cpathogenic1186871960(+) GGAAAA/TGGCAG 2 R W mis10--------

    HapMap Linkage Disequilibrium report for CYP4V2 (187112674 - 187134617 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for CYP4V2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2728930CNV Deletion23290073
    nsv4644CNV Insertion18451855
    nsv4642CNV Loss18451855
    nsv830172CNV Loss17160897
    nsv508340CNV Loss20534489
    dgv683n27CNV Gain19166990
    dgv5851n71CNV Gain21882294
    nsv470097CNV Gain18288195
    dgv5852n71CNV Gain21882294
    nsv461864CNV Gain19166990

    Human Gene Mutation Database (HGMD): CYP4V2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CYP4V2
    DNA2.0 Custom Variant and Variant Library Synthesis for CYP4V2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608614   
    OMIM disorders: 210370  
    UniProtKB/Swiss-Prot: CP4V2_HUMAN, Q6ZWL3
  • Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]: An autosomal recessive ocular disease
    characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple
    glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and
    sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the
    visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision,
    nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral
    visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade
    of life. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 3 diseases for CYP4V2:    
    About MalaCards
    bietti crystalline corneoretinal dystrophy    corneal dystrophy    choroidal sclerosis

    3 diseases from the University of Copenhagen DISEASES database for CYP4V2:
    Choroidal sclerosis     Osteosarcoma     Night blindness

    Find genes that share disorders with CYP4V2           About GenesLikeMe

    Genetic Association Database (GAD): CYP4V2
    Human Genome Epidemiology (HuGE) Navigator: CYP4V2 (6 documents)

    Export disorders for CYP4V2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for CYP4V2 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with CYP4V2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. (PubMed id 15042513)1, 2, 3, 9 Li A.... Hejtmancik J.F. (Am. J. Hum. Genet. 2004)
    2. Host determinants of HIV-1 control in African Americans. (PubMed id 20205591)1, 4 Pelak K.... . (J. Infect. Dis. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Expression and characterization of CYP4V2 as a fatty acid omega- hydroxylase. (PubMed id 19661213)1, 2 Nakano M.... Rettie A.E. (Drug Metab. Dispos. 2009)
    5. Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. (PubMed id 19278955)1, 4 TrAcgouAt D.A....Morange P.E. (Blood 2009)
    6. Genetic variants associated with deep vein thrombosis: the F11 locus. (PubMed id 19583818)1, 4 Li Y....Rosendaal F.R. (J. Thromb. Haemost. 2009)
    7. Gene variants associated with deep vein thrombosis. (PubMed id 18349091)1, 4 Bezemer I.D....Rosendaal F.R. (JAMA 2008)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    10. Novel mutations in the CYP4V2 gene associated with Bietti crystalline corneoretinal dystrophy. (PubMed id 16179904)1, 9 Shan M....Li Y. (Mol. Vis. 2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    NCBI Bookshelf
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 285440 HGNC: 23198 AceView: CYP4V2 Ensembl:ENSG00000145476 euGenes: HUgn285440
    ECgene: CYP4V2 H-InvDB: CYP4V2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CYP4V2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CYP4V2[genesymbol]
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cyp4v2/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CYP4V2 gene:
    Search GeneIP for patents involving CYP4V2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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