2. Gene
  3. CYP2R1 - cytochrome P450 family 2 subfamily R member 1 Gene

CYP2R1 - cytochrome P450 family 2 subfamily R member 1 Gene

  • Gene
  • Protein
  • Disease
  • Agent
  • Ortholog
Homo sapiens
Gene ID: 120227 | Gene type: protein coding

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

CYP2R1 Protein Structure

p450

p450: Cytochrome P450 (40 - 497)

  • 0
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  • 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
Bioactive Molecules (1)
Cat. No. Product Name Effect
Purity Rare Diseases
HY-RS03466 CYP2R1 Human Pre-designed siRNA Set A / 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