CYP2R1 - cytochrome P450 family 2 subfamily R member 1 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 120227

About CYP2R1

Cytogenetic location: 11p15.2 Genomic coordinates (GRCh38): 11:14,877,440-14,892,443 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues, 15 paralogues and is associated with 2 phenotypes. Ubiquitous expression in skin (RPKM 2.2), testis (RPKM 2.0) and 25 other tissues.

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]

CYP2R1 Products (17)

mRNA Protein Name
NM_001377214.1 NP_001364143.1 vitamin D 25-hydroxylase isoform 2
NM_001377215.1 NP_001364144.1 vitamin D 25-hydroxylase isoform 2
NM_001377216.1 NP_001364145.1 vitamin D 25-hydroxylase isoform 2
NM_001377217.1 NP_001364146.1 vitamin D 25-hydroxylase isoform 3
NM_001377227.1 NP_001364156.1 vitamin D 25-hydroxylase isoform 2
NM_001400558.1 NP_001387487.1 vitamin D 25-hydroxylase isoform 2
NM_001400559.1 NP_001387488.1 vitamin D 25-hydroxylase isoform 2
NM_001400560.1 NP_001387489.1 vitamin D 25-hydroxylase isoform 2
NM_001400561.1 NP_001387490.1 vitamin D 25-hydroxylase isoform 2
NM_001400562.1 NP_001387491.1 vitamin D 25-hydroxylase isoform 4
NM_001400563.1 NP_001387492.1 vitamin D 25-hydroxylase isoform 4
NM_001400564.1 NP_001387493.1 vitamin D 25-hydroxylase isoform 4
NM_001400565.1 NP_001387494.1 vitamin D 25-hydroxylase isoform 4
NM_001400566.1 NP_001387495.1 vitamin D 25-hydroxylase isoform 7
NM_001400567.1 NP_001387496.1 vitamin D 25-hydroxylase isoform 5
NM_001400568.1 NP_001387497.1 vitamin D 25-hydroxylase isoform 6
NM_024514.5 NP_078790.2 vitamin D 25-hydroxylase isoform 1

Gene Ontology

  • Molecular Function
  • Biological Process
Molecular Function GO Annotation Evidence References Source
enables D3 vitamins binding IDA
IDA: Inferred from direct assay
18511070 GOA
enables heme binding IDA
IDA: Inferred from direct assay
18511070 GOA
enables iron ion binding IDA
IDA: Inferred from direct assay
18511070 GOA
enables protein homodimerization activity IDA
IDA: Inferred from direct assay
18511070 GOA
enables vitamin D3 25-hydroxylase activity IDA
IDA: Inferred from direct assay
15465040 GOA
Biological Process GO Annotation Evidence References Source
involved in calcitriol biosynthetic process from calciol IDA
IDA: Inferred from direct assay
15465040 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CYP2R1 Protein Structure

p450

p450: Cytochrome P450 (40 - 497)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 501 a.a.
Protein Preferred Names Protein Names

vitamin D 25-hydroxylase

  • cytochrome P450 2R1

Related Diseases

Diseases Alias
Vitamin D Hydroxylation-Deficient Rickets, Type 1b

  • VDDR1B

  • Vitamin D-Dependent Rickets Type 1b

  • Vitamin D-Dependent Rickets, Type 1b

  • 25-Hydroxyvitamin D3 Deficiency, Selective

  • Pseudovitamin D3 Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation Deficiency

  • Rickets Vitamin D-Dependent 1b

  • 25-Hydroxyvitamimn D3 Deficiency Selective

  • 25-Hydroxyvitamin D(3) Deficiency

  • Pseudovitamin D(3) Deficiency Rickets Due To 25-Hydroxylase Deficiency

  • Selective 25-Hydroxyvitamin D(3) Deficiency

  • Rickets Due To Defect In Vitamin D 25-Hydroxylation
Hypocalcemic Vitamin D-Dependent Rickets

  • 1-Alpha-Hydroxylase Deficiency

  • Pddri

  • Pseudovitamin D-Deficient Rickets

  • Vddi

  • Vddr-I

  • Vitamin D Dependent Rickets Type I

  • Vitamin D-Dependency Type I

  • Vitamin D-Dependent Rickets, Type 1
Vitamin D Hydroxylation-Deficient Rickets, Type 1a

  • Vitamin D-Dependent Rickets, Type 1a

  • Vitamin D-Dependent Rickets, Type 1

  • VDDR1A

  • 25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

  • 1-Alpha-Hydroxylase Deficiency

  • Vdd1

  • Pddr1a

  • Pddr Ia

  • Vitamin D-Dependent Rickets, Type I

  • Vitamin D-Dependent Rickets Type 1a

  • 1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

  • Vitamin D Dependency, Type 1

  • Pseudovitamin D-Deficiency Rickets, Type Ia

  • Rickets Vitamin D-Dependent 1a

  • 1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

  • Pddr

  • Pseudovitamin D Deficiency Rickets

  • Pseudovitamin D-Deficiency Rickets Type Ia

  • Vitamin D Dependency Type 1
Rickets

  • Vitamin D Deficiency

  • Vitamin D

  • Active Rickets

  • Hypovitaminosis D

  • Nutritional Rickets

  • Vitamin D Deficiency Disease

  • Vitamin-D Deficiency Rickets

  • Vitamin D-Dependent Rickets

  • Avitaminosis D

  • Infantile Osteomalacia

  • Juvenile Osteomalacia
Vitamin D-Dependent Rickets

  • Vddr
Vitamin D-Dependent Rickets Type 2b
Vitamin D-Dependent Rickets, Type 2a

  • Hvdrr

  • Generalized Resistance To 1,25-Dihydroxyvitamin D

  • Hypocalcemic Vitamin D-Resistant Rickets

  • VDDR2A

  • Rickets, Hereditary Vitamin D-Resistant

  • Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol

  • Pddr Iia

  • Rickets-Alopecia Syndrome

  • Rickets, Vitamin D-Resistant, Type Iia

  • Vitamin D-Dependent Rickets Type 2a

  • Vitamin D-Dependent Rickets, Type 2

  • Vitamin D-Dependent Rickets, Type 2a, With Or Without Alopecia

  • Generalized 1,25-Dihydroxyvitamin D

  • Pseudovitamin D-Deficiency, Type Iia

  • Hereditary Vitamin D-Resistant Rickets

  • Vddr Ii

  • Vdrr Ii

  • Vitamin D-Dependent Rickets Type Ii

  • Vitamin D-Resistant Rickets Type Ii

  • Rickets Vitamin D-Dependent 2a

  • Pseudovitamin D-Deficiency Type Iia

  • Rickets Hereditary Vitamin D-Resistant

  • Type Iia Rickets

  • Vitamin D-Dependent Rickets Type 2a With Or Without Alopecia

  • Vitamin D-Dependent Rickets, Type Ii

  • Familial Hypophosphatemic Rickets

  • Hypophosphatemic Rickets, X-Linked Dominant
Hypervitaminosis D

  • Vitamin D Hyperalimentation
Autism Spectrum Disorder

  • Asd

  • Autism Spectrum Disorders

  • Autistic Continuum

  • Pervasive Developmental Disorder

  • Pervasive Development Disorder

  • Autistic Behavior

  • Autistic Disorder

  • Autistic

  • Autistic Disorder Of Childhood Onset

  • Infantile Autism

  • Childhood Autism

  • Kanner Syndrome

  • Pervasive Developmental Delay Nos

  • Pervasive Developmental Disorder, Not Otherwise Specified
Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Related Agents

  • Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS03466 CYP2R1 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

Species Symbol Source ID
Macaca mulatta CYP2R1 VGNC VGNC:103604
Bos taurus CYP2R1 VGNC VGNC:110260
Mus musculus CYP2R1 MGD MGI:2449771
Canis familiaris CYP2R1 VGNC VGNC:50355
Rattus norvegicus CYP2R1 RGD RGD:1311866
Felis catus CYP2R1 VGNC VGNC:103322
Others CYP2R1 NCBI