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    CYP4V2 cytochrome P450 family 4 subfamily V member 2 [ Homo sapiens (human) ]

    Gene ID: 285440, updated on 27-Nov-2024

    Summary

    Official Symbol
    CYP4V2provided by HGNC
    Official Full Name
    cytochrome P450 family 4 subfamily V member 2provided by HGNC
    Primary source
    HGNC:HGNC:23198
    See related
    Ensembl:ENSG00000145476 MIM:608614; AllianceGenome:HGNC:23198
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BCD; CYP4AH1
    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]
    Expression
    Ubiquitous expression in liver (RPKM 27.9), kidney (RPKM 21.3) and 23 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See CYP4V2 in Genome Data Viewer
    Location:
    4q35.1-q35.2
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (186191567..186213463)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (189531931..189553879)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (187112721..187134617)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene family with sequence similarity 149 member A Neighboring gene MED14-independent group 3 enhancer GRCh37_chr4:187091342-187092541 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22267 Neighboring gene LTO1 pseudogene 1 Neighboring gene uncharacterized LOC651430 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187147168-187147838 Neighboring gene uncharacterized LOC124900873 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187162259-187162864 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:187164453-187164981 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:187164982-187165509 Neighboring gene kallikrein B1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:187170964-187171708 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:187185702-187186473 Neighboring gene F11 antisense RNA 1 Neighboring gene coagulation factor XI

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Bietti crystalline corneoretinal dystrophy
    MedGen: C1859486 OMIM: 210370 GeneReviews: Bietti Crystalline Dystrophy
    not available

    EBI GWAS Catalog

    Description
    Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.
    EBI GWAS Catalog

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ18432, MGC43534

    General protein information

    Preferred Names
    cytochrome P450 4V2
    Names
    cytochrome P450, family 4, subfamily V, polypeptide 2
    docosahexaenoic acid omega-hydroxylase CYP4V2
    long-chain fatty acid omega-monooxygenase
    NP_997235.3
    XP_005262992.1
    XP_047306033.1
    XP_054205685.1
    XP_054205686.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007965.1 RefSeqGene

      Range
      5048..26944
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_207352.4NP_997235.3  cytochrome P450 4V2

      See identical proteins and their annotated locations for NP_997235.3

      Status: REVIEWED

      Source sequence(s)
      AA918796, AC110771, AY422002, BC060857
      Consensus CDS
      CCDS34119.1
      UniProtKB/Swiss-Prot
      B7U6W2, Q6ZTM4, Q6ZWL3
      Related
      ENSP00000368079.4, ENST00000378802.5
      Conserved Domains (1) summary
      pfam00067
      Location:55517
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      186191567..186213463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005262935.5XP_005262992.1  cytochrome P450 4V2 isoform X1

      Conserved Domains (1) summary
      pfam00067
      Location:55516
      p450; Cytochrome P450
    2. XM_047450077.1XP_047306033.1  cytochrome P450 4V2 isoform X2

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      189531931..189553879
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054349710.1XP_054205685.1  cytochrome P450 4V2 isoform X1

    2. XM_054349711.1XP_054205686.1  cytochrome P450 4V2 isoform X2