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

Gene ID: 120227, updated on 5-Mar-2024

Summary

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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
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Genomic context

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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 uncharacterized LOC124902638 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 calcitonin pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:14993078-14993724 Neighboring gene calcitonin related polypeptide alpha

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

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Related articles in PubMed

  1. Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene. Abdalla AT, et al. Gene, 2022 Nov 30. PMID 35973571
  2. New Variants of the Cytochrome P450 2R1 (CYP2R1) Gene in Individuals with Severe Vitamin D-Activating Enzyme 25(OH)D Deficiency. Fronczek M, et al. Biomolecules, 2021 Dec 12. PMID 34944511, Free PMC Article
  3. The influence of CYP2R1 polymorphisms and gene-obesity interaction with hypertension risk in a Chinese rural population. Xu Z, et al. Nutr Metab Cardiovasc Dis, 2022 Jan. PMID 34906413
  4. Genetic variations of CYP2R1 (rs10741657) in Bangladeshi adults with low serum 25(OH)D level-A pilot study. Rahman KL, et al. PLoS One, 2021. PMID 34797893, Free PMC Article
  5. Two novel CYP2R1 mutations in a family with vitamin D-dependent rickets type 1b. Ozden A, et al. Endocrine, 2021 Jun. PMID 33715104

See all (111) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.
    Title: Single nucleotide polymorphisms in vitamin D binding protein and 25-hydroxylase genes affect vitamin D levels in adolescents of Arab ethnicity in Kuwait.
  2. Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.
    Title: Association of Single Nucleotide Polymorphism in VDR, GC Globulin and CYP2R1 with the Risk of Esophageal Cancer.
  3. Correlation of CYP2R1 gene promoter methylation with circulating vitamin D levels among healthy adults.
    Title: Correlation of CYP2R1 gene promoter methylation with circulating vitamin D levels among healthy adults.
  4. Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.
    Title: Biomarkers of ulcerative colitis disease activity CXCL1, CYP2R1, LPCAT1, and NEU4 and their relationship to immune infiltrates.
  5. Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents.
    Title: Association of CYP2R1 and VDR Polymorphisms with Metabolic Syndrome Components in Non-Diabetic Brazilian Adolescents.
  6. 25-Hydroxyvitamin D Serum Levels Linked to Single Nucleotide Polymorphisms (SNPs) (rs2228570, rs2282679, rs10741657) in Skeletal Muscle Aging in Institutionalized Elderly Men Not Supplemented with Vitamin D.
    Title: 25-Hydroxyvitamin D Serum Levels Linked to Single Nucleotide Polymorphisms (SNPs) (rs2228570, rs2282679, rs10741657) in Skeletal Muscle Aging in Institutionalized Elderly Men Not Supplemented with Vitamin D.
  7. Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
    Title: Clinical presentation and molecular genetic analysis of a Sudanese family with a novel mutation in the CYP2R1 gene.
  8. Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
    Title: Genetic variants of vitamin D metabolism-related DHCR7/NADSYN1 locus and CYP2R1 gene are associated with clinical features of Parkinson's disease.
  9. Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study.
    Title: Polymorphisms CYP2R1 rs10766197 and CYP27B1 rs10877012 in Multiple Sclerosis: A Case-Control Study.
  10. The influence of CYP2R1 polymorphisms and gene-obesity interaction with hypertension risk in a Chinese rural population.
    Title: The influence of CYP2R1 polymorphisms and gene-obesity interaction with hypertension risk in a Chinese rural population.
Submit: New GeneRIF Correction See all GeneRIFs (103)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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General gene information

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Markers

Homology

Clone Names

  • MGC4663

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables D3 vitamins binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables heme binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables heme binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables iron ion binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein homodimerization activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables steroid hydroxylase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables vitamin D3 25-hydroxylase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables vitamin D3 25-hydroxylase activity TAS
Traceable Author Statement
more info
  
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

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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)

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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_001377214.1 → NP_001364143.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Conserved Domains (1) summary
    cl41757
    Location:1 → 382
    cytochrome_P450; cytochrome P450 (CYP) superfamily

  2. NM_001377215.1 → NP_001364144.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Conserved Domains (1) summary
    cl41757
    Location:1 → 382
    cytochrome_P450; cytochrome P450 (CYP) superfamily

  3. NM_001377216.1 → NP_001364145.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Conserved Domains (1) summary
    cl41757
    Location:1 → 382
    cytochrome_P450; cytochrome P450 (CYP) superfamily

  4. NM_001377217.1 → NP_001364146.1  vitamin D 25-hydroxylase isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Conserved Domains (1) summary
    cl41757
    Location:21 → 443
    cytochrome_P450; cytochrome P450 (CYP) superfamily

  5. NM_001377227.1 → NP_001364156.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Conserved Domains (1) summary
    cl41757
    Location:1 → 382
    cytochrome_P450; cytochrome P450 (CYP) superfamily

  6. NM_001400558.1 → NP_001387487.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835

  7. NM_001400559.1 → NP_001387488.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835

  8. NM_001400560.1 → NP_001387489.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835

  9. NM_001400561.1 → NP_001387490.1  vitamin D 25-hydroxylase isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC090835

  10. NM_001400562.1 → NP_001387491.1  vitamin D 25-hydroxylase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Consensus CDS
    CCDS91446.1
    UniProtKB/TrEMBL
    E9PJT9

  11. NM_001400563.1 → NP_001387492.1  vitamin D 25-hydroxylase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Consensus CDS
    CCDS91446.1
    UniProtKB/TrEMBL
    E9PJT9

  12. NM_001400564.1 → NP_001387493.1  vitamin D 25-hydroxylase isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC090835
    Consensus CDS
    CCDS91446.1
    UniProtKB/TrEMBL
    E9PJT9

  13. NM_001400565.1 → NP_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_001400566.1 → NP_001387495.1  vitamin D 25-hydroxylase isoform 7

    Status: REVIEWED

    Source sequence(s)
    AC090835

  15. NM_001400567.1 → NP_001387496.1  vitamin D 25-hydroxylase isoform 5

    Status: REVIEWED

    Source sequence(s)
    AC090835

  16. NM_001400568.1 → NP_001387497.1  vitamin D 25-hydroxylase isoform 6

    Status: REVIEWED

    Source sequence(s)
    AC090835

  17. NM_024514.5 → NP_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:57 → 497
    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_047426361.1 → XP_047282317.1  vitamin D 25-hydroxylase isoform X1

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

    Conserved Domains (1) summary
    pfam00067
    Location:18 → 442
    p450; Cytochrome P450

  3. XM_047426360.1 → XP_047282316.1  vitamin D 25-hydroxylase isoform X1

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

  5. XM_047426363.1 → XP_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_054367654.1 → XP_054223629.1  vitamin D 25-hydroxylase isoform X1

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

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

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

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

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6VVX0.1 GenPept UniProtKB/Swiss-Prot:Q6VVX0

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