CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

Gene

• Entrez ID: 120227
• Gene name: Cytochrome P450 family 2 subfamily R member 1
• Gene symbol: CYP2R1
• Synonyms: -
• Chromosome: 11
• Chromosome location: 11p15.2
• 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 m

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs61495246	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant, non coding transcript variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT052588	hsa-let-7a-5p	CLASH	23622248
MIRT2208621	hsa-miR-329	CLIP-seq
MIRT2208622	hsa-miR-362-3p	CLIP-seq
MIRT2208623	hsa-miR-374c	CLIP-seq
MIRT2208624	hsa-miR-3941	CLIP-seq
MIRT2208625	hsa-miR-576-5p	CLIP-seq
MIRT2208626	hsa-miR-603	CLIP-seq
MIRT2208627	hsa-miR-655	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IDA	18511070
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA	21873635
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IBA	21873635
GO:0008395	Function	Steroid hydroxylase activity	IBA	21873635
GO:0010164	Process	Response to cesium ion	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0016712	Function	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	21873635
GO:0020037	Function	Heme binding	IBA	21873635
GO:0020037	Function	Heme binding	IDA	18511070
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	15465040, 18511070
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	TAS
GO:0036378	Process	Calcitriol biosynthetic process from calciol	IDA	15465040, 18511070
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042738	Process	Exogenous drug catabolic process	IBA	21873635
GO:0042803	Function	Protein homodimerization activity	IDA	18511070
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA	21873635
GO:1902271	Function	D3 vitamins binding	IDA	18511070

Other IDs

• MIM: 608713
• HGNC: 20580
• e!Ensembl: ENSG00000186104

Protein

• UniProt ID: Q6VVX0
• Protein name: Vitamin D 25-hydroxylase (EC 1.14.14.24) (Cytochrome P450 2R1)
• Protein function: A cytochrome P450 monooxygenase involved in activation of vitamin D precursors. Catalyzes hydroxylation at C-25 of both forms of vitamin D, vitamin D(2) and D(3) (calciol) (PubMed:12867411, PubMed:15465040, PubMed:18511070). Can metabolize vitam
• PDB: 3C6G, 3CZH, 3DL9
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00067	p450	40 → 498	Cytochrome P450	Domain

• Sequence:

  MWKLWRAEEGAAALGGALFLLLFALGVRQLLKQRRPMGFPPGPPGLPFIGNIYSLAASSE
  LPHVYMRKQSQVYGEIFSLDLGGISTVVLNGYDVVKECLVHQSEIFADRPCLPLFMKMTK
  MGGLLNSRYGRGWVDHRRLAVNSFRYFGYGQKSFESKILEETKFFNDAIETYKGRPFDFK
  QLITNAVSNITNLIIFGERFTYEDTDFQHMIELFSENVELAASASVFLYNAFPWIGILPF
  GKHQQLFRNAAVVYDFLSRLIEKASVNRKPQLPQHFVDAYLDEMDQGKNDPSSTFSKENL
  IFSVGELIIAGTETTTNVLRWAILFMALYPNIQGQVQKEIDLIMGPNGKPSWDDKCKMPY
  TEAVLHEVLRFCNIVPLGIFHATSEDAVVRGYSIPKGTTVITNLYSVHFDEKYWRDPEVF
  HPERFLDSSGYFAKKEALVPFSLGRRHCLGEHLARMEMFLFFTALLQRFHLHFPHELVPD
  LKPRLGMTLQPQPYLICAERR

• Sequence length: 501

Pathways

KEGG:

Steroid biosynthesis
Metabolic pathways

Reactome:

Vitamin D (calciferol) metabolism
Vitamins
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Hyperparathyroidism	Hyperparathyroidism, Secondary	rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709, rs863223311, rs80356650, rs193922432, rs886041637, rs201633414, rs1057519419, rs766719790, rs1281361203, rs759393722, rs1342435095, rs1200458339, rs755916513, rs1586190048, rs1558280170
Vitamin d-dependent rickets	Vitamin D-dependent rickets, type 1, Vitamin D Hydroxylation-Deficient Rickets, Type 1B	rs28934604, rs28934605, rs28934606, rs387906258, rs387906259, rs387906260, rs118204007, rs761780097, rs118204008, rs118204009, rs2140397731, rs770204470, rs118204010, rs118204011, rs61495246, rs121909790, rs121909791, rs121909792, rs121909802, rs121909794, rs121909795, rs121909796, rs121909797, rs121909798, rs121909800, rs121909801, rs1592107753, rs267607169, rs111033566, rs886037890, rs568165874, rs780950819, rs1057520815, rs1057521095, rs555068245, rs763437121, rs767480544, rs749537609	25942481, 27716192, 15128933

Unknown
Disease name	Disease term	dbSNP ID	References
Dental enamel hypoplasia	Dental Enamel Hypoplasia
Dwarfism	Dwarfism
Frontal bossing	Frontal bossing
Hypocalcemic seizures	Hypocalcemic seizures
Hypocalcemic vitamin d-dependent rickets	Hypocalcemic vitamin D-dependent rickets
Liver cirrhosis	Liver Cirrhosis		24381012
Liver fibrosis	Fibrosis, Liver		24381012
Metabolic bone disorder	Metabolic Bone Disorder		24381012
Motor delay	Clumsiness - motor delay
Osteopenia	Osteopenia		24381012
Rachitic rosary	Rachitic rosary
Rickets	Rickets, Adult Rickets
Uveomeningoencephalitic syndrome	Uveomeningoencephalitic Syndrome		27716192