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    CYP2R1 cytochrome P450 family 2 subfamily R member 1 [ Homo sapiens (human) ]

    Gene ID: 120227, updated on 10-Jun-2024

    Summary

    Official Symbol
    CYP2R1provided by HGNC
    Official Full Name
    cytochrome P450 family 2 subfamily R member 1provided by HGNC
    Primary source
    HGNC:HGNC:20580
    See related
    Ensembl:ENSG00000186104 MIM:608713; AllianceGenome:HGNC:20580
    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
    Summary
    This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a microsomal vitamin D hydroxylase that converts vitamin D into the active ligand for the vitamin D receptor. A mutation in this gene has been associated with selective 25-hydroxyvitamin D deficiency. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in skin (RPKM 2.2), testis (RPKM 2.0) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See CYP2R1 in Genome Data Viewer
    Location:
    11p15.2
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (14877440..14892443, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (14973806..14988811, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (14898986..14913989, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene phosphodiesterase 3B Neighboring gene uncharacterized LOC107984315 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:14737137-14737723 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:14737724-14738309 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:14748217-14748780 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:14764591-14765090 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:14799188-14799688 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:14838787-14838962 Neighboring gene uncharacterized LOC124902639 Neighboring gene MPRA-validated peak1207 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3174 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4476 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4477 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:14929307-14929806 Neighboring gene phosphodiesterase 3B Neighboring gene calcitonin pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:14993078-14993724 Neighboring gene calcitonin related polypeptide alpha

    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
    Vitamin D hydroxylation-deficient rickets, type 1B
    MedGen: C1838657 OMIM: 600081 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Common genetic determinants of vitamin D insufficiency: a genome-wide association study.
    EBI GWAS Catalog
    Genome-wide association study of circulating vitamin D levels.
    EBI GWAS Catalog
    Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study.
    EBI GWAS Catalog

    Pathways from PubChem

    General gene information

    Markers

    Clone Names

    • MGC4663

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in calcitriol biosynthetic process from calciol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in organic acid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to cesium ion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in response to ionizing radiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vitamin D metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in vitamin metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in xenobiotic metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in intracellular membrane-bounded organelle IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    vitamin D 25-hydroxylase
    Names
    cytochrome P450 2R1
    cytochrome P450, family 2, R1
    cytochrome P450, family 2, subfamily R, polypeptide 1
    NP_001364143.1
    NP_001364144.1
    NP_001364145.1
    NP_001364146.1
    NP_001364156.1
    NP_001387487.1
    NP_001387488.1
    NP_001387489.1
    NP_001387490.1
    NP_001387491.1
    NP_001387492.1
    NP_001387493.1
    NP_001387494.1
    NP_001387495.1
    NP_001387496.1
    NP_001387497.1
    NP_078790.2
    XP_016872679.1
    XP_047282316.1
    XP_047282317.1
    XP_047282318.1
    XP_047282319.1
    XP_054223627.1
    XP_054223628.1
    XP_054223629.1
    XP_054223630.1
    XP_054223631.1

    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_007936.1 RefSeqGene

      Range
      4975..19766
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001377214.1NP_001364143.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Conserved Domains (1) summary
      cl41757
      Location:1382
      cytochrome_P450; cytochrome P450 (CYP) superfamily
    2. NM_001377215.1NP_001364144.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Conserved Domains (1) summary
      cl41757
      Location:1382
      cytochrome_P450; cytochrome P450 (CYP) superfamily
    3. NM_001377216.1NP_001364145.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Conserved Domains (1) summary
      cl41757
      Location:1382
      cytochrome_P450; cytochrome P450 (CYP) superfamily
    4. NM_001377217.1NP_001364146.1  vitamin D 25-hydroxylase isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Conserved Domains (1) summary
      cl41757
      Location:21443
      cytochrome_P450; cytochrome P450 (CYP) superfamily
    5. NM_001377227.1NP_001364156.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Conserved Domains (1) summary
      cl41757
      Location:1382
      cytochrome_P450; cytochrome P450 (CYP) superfamily
    6. NM_001400558.1NP_001387487.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
    7. NM_001400559.1NP_001387488.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
    8. NM_001400560.1NP_001387489.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
    9. NM_001400561.1NP_001387490.1  vitamin D 25-hydroxylase isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090835
    10. NM_001400562.1NP_001387491.1  vitamin D 25-hydroxylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Consensus CDS
      CCDS91446.1
      UniProtKB/TrEMBL
      E9PJT9
    11. NM_001400563.1NP_001387492.1  vitamin D 25-hydroxylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Consensus CDS
      CCDS91446.1
      UniProtKB/TrEMBL
      E9PJT9
    12. NM_001400564.1NP_001387493.1  vitamin D 25-hydroxylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Consensus CDS
      CCDS91446.1
      UniProtKB/TrEMBL
      E9PJT9
    13. NM_001400565.1NP_001387494.1  vitamin D 25-hydroxylase isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090835
      Consensus CDS
      CCDS91446.1
      UniProtKB/TrEMBL
      E9PJT9
      Related
      ENSP00000435484.1, ENST00000532378.5
    14. NM_001400566.1NP_001387495.1  vitamin D 25-hydroxylase isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC090835
    15. NM_001400567.1NP_001387496.1  vitamin D 25-hydroxylase isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090835
    16. NM_001400568.1NP_001387497.1  vitamin D 25-hydroxylase isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC090835
    17. NM_024514.5NP_078790.2  vitamin D 25-hydroxylase isoform 1

      See identical proteins and their annotated locations for NP_078790.2

      Status: REVIEWED

      Source sequence(s)
      AC090835, AY323817
      Consensus CDS
      CCDS7818.1
      UniProtKB/Swiss-Prot
      Q2M3H3, Q5RT65, Q6VVX0
      Related
      ENSP00000334592.5, ENST00000334636.10
      Conserved Domains (1) summary
      pfam00067
      Location:57497
      p450; Cytochrome P450

    RNA

    1. NR_174512.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    2. NR_174513.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    3. NR_174514.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    4. NR_174515.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    5. NR_174516.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    6. NR_174517.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    7. NR_174518.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    8. NR_174519.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    9. NR_174520.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    10. NR_174521.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    11. NR_174522.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835
    12. NR_174523.1 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC090835

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      14877440..14892443 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047426361.1XP_047282317.1  vitamin D 25-hydroxylase isoform X1

    2. XM_017017190.3XP_016872679.1  vitamin D 25-hydroxylase isoform X1

      Conserved Domains (1) summary
      pfam00067
      Location:18442
      p450; Cytochrome P450
    3. XM_047426360.1XP_047282316.1  vitamin D 25-hydroxylase isoform X1

    4. XM_047426362.1XP_047282318.1  vitamin D 25-hydroxylase isoform X2

    5. XM_047426363.1XP_047282319.1  vitamin D 25-hydroxylase isoform X3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      14973806..14988811 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367654.1XP_054223629.1  vitamin D 25-hydroxylase isoform X1

    2. XM_054367653.1XP_054223628.1  vitamin D 25-hydroxylase isoform X1

    3. XM_054367652.1XP_054223627.1  vitamin D 25-hydroxylase isoform X1

    4. XM_054367655.1XP_054223630.1  vitamin D 25-hydroxylase isoform X2

    5. XM_054367656.1XP_054223631.1  vitamin D 25-hydroxylase isoform X3