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

Gene ID: 120227, updated on 27-Nov-2022

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
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Genomic context

See CYP2R1 in Genome Data Viewer
Location:
11p15.2
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (14877440..14892443, complement)
110 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 uncharacterized LOC124902639 Neighboring gene uncharacterized LOC124902638 Neighboring gene calcitonin pseudogene 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

Homology

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
PubMed 
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
PubMed 
Component Evidence Code Pubs
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

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

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
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)