Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	120227
Gene name	Cytochrome P450 family 2 subfamily R member 1
Gene symbol	CYP2R1
Synonyms (NCBI Gene)	-
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

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

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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

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GO ID	Ontology	Definition	Evidence	Reference
GO:0004497	Function	Monooxygenase activity	IEA
GO:0005506	Function	Iron ion binding	IDA	18511070
GO:0005506	Function	Iron ion binding	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0006082	Process	Organic acid metabolic process	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006766	Process	Vitamin metabolic process	TAS
GO:0006805	Process	Xenobiotic metabolic process	IBA
GO:0010038	Process	Response to metal ion	IEA
GO:0010164	Process	Response to cesium ion	IEA
GO:0010212	Process	Response to ionizing radiation	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016705	Function	Oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	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
GO:0020037	Function	Heme binding	IBA
GO:0020037	Function	Heme binding	IDA	18511070
GO:0020037	Function	Heme binding	IEA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IBA
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IDA	15465040, 18511070
GO:0030343	Function	Vitamin D3 25-hydroxylase activity	IEA
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	IBA
GO:0042359	Process	Vitamin D metabolic process	IEA
GO:0042359	Process	Vitamin D metabolic process	TAS
GO:0042368	Process	Vitamin D biosynthetic process	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	18511070
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:1902271	Function	D3 vitamins binding	IDA	18511070

MIM	HGNC	e!Ensembl
608713	20580	ENSG00000186104

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

Interactions

View interactions

	KEGG		Reactome
	Steroid biosynthesis Metabolic pathways		Vitamin D (calciferol) metabolism Vitamins Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
CYP2R1-related disorder	Likely pathogenic; Pathogenic	rs576642411, rs61495246, rs1422405747	RCV004754817 RCV004754234 RCV003416131
Hypophosphataemia or rickets	Likely pathogenic; Pathogenic	rs61495246	RCV006436374
Vitamin D hydroxylation-deficient rickets, type 1B	Likely pathogenic; Pathogenic	rs782459395, rs782285382, rs576642411, rs61495246, rs782242126, rs1555014321, rs1306247629, rs202011621, rs1422405747, rs1848879955	RCV005050335 RCV001806317 RCV003448438 RCV000002216 RCV005042926 RCV005050620 RCV005051405 RCV001254775 RCV001254776 RCV001254777
Vitamin D-dependent rickets, type 1	Likely pathogenic; Pathogenic	rs61495246	RCV001195424

Show/Hide Unknown Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Likely benign	rs112229807	RCV005926591
Low serum calcitriol	Uncertain significance	rs2134008602	RCV001813830
Pulmonary disease, chronic obstructive, susceptibility to	Benign; association	rs12794714, rs7129781	RCV002508805 RCV002508835
Thyroid cancer, nonmedullary, 1	Uncertain significance	rs781827684	RCV005932423

Show/Hide Text Mining Associations (62)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Arthritis	Associate	32344004
Arthritis Rheumatoid	Associate	30796319, 34925313
Asthma	Associate	19852851, 21613960, 21810276
Astrocytoma	Associate	22740028
Autism Spectrum Disorder	Associate	26073892
Biliary Atresia	Associate	34615940
Calcium Metabolism Disorders	Associate	25165186
Carcinoma Basal Cell	Associate	15077124
Carcinoma Endometrioid	Associate	24732451
Carcinoma Hepatocellular	Associate	23734184
Carcinoma Non Small Cell Lung	Associate	31625015, 36364930
Cardiovascular Diseases	Inhibit	40237935
Colorectal Neoplasms	Associate	22701574, 23456391, 24562971, 27341022, 32012190, 33058307, 37644572
Complement Component 7 Deficiency	Associate	25405862
Coronary Artery Disease	Associate	39600283
Diabetes Gestational	Associate	26448018
Diabetes Mellitus	Associate	36364874, 37170809, 40237935
Diabetes Mellitus Type 1	Associate	21441443, 32764491, 37170809
Diabetes Mellitus Type 2	Associate	32542627
Diabetic Nephropathies	Associate	30552240
Disease	Associate	25165186
Endometrial Neoplasms	Associate	24732451
Esophageal Neoplasms	Associate	37898838
Fatty Liver	Associate	29750155
Genetic Diseases Inborn	Associate	15128933
Glioma	Associate	22740028
Graves Disease	Associate	25046415
Hashimoto Disease	Associate	25046415
Heart Murmurs	Associate	34187381
Hyperglycemia	Associate	36364874
Hypertension	Associate	30192652, 36364874
Ige Responsiveness Atopic	Associate	19852851
Immunodeficiency due to Defect in CD3 Zeta	Associate	25942481
Lung Neoplasms	Associate	31625015
Lupus Erythematosus Systemic	Associate	35720397
Melanoma	Associate	17172823, 30200275
Metabolic Syndrome	Associate	36364874
Metabolism Inborn Errors	Associate	34944511
Multiple Sclerosis	Inhibit	21431378
Multiple Sclerosis	Associate	21431378, 33626316, 34977256
N syndrome	Associate	22992568
Nasopharyngeal Carcinoma	Associate	34464857
Neoplasms	Associate	16886665, 25406188, 32344004, 37898838
Non alcoholic Fatty Liver Disease	Associate	30248338
Obesity	Associate	36364874
Ovarian Neoplasms	Associate	27594614, 33626316
Overweight	Associate	36364874
Pancreatic Neoplasms	Associate	23826131
Pancreatic Neoplasms	Inhibit	23826131
Prostatitis	Associate	16886665
Pulmonary Disease Chronic Obstructive	Associate	39583968
Rickets	Associate	22855339, 24073854, 25942481, 33626316
Sarcopenia	Associate	36233147
Seminoma	Associate	37242266
Squamous Cell Carcinoma of Head and Neck	Associate	24497297
Thyroid Cancer Papillary	Associate	22690899
Thyroid Neoplasms	Associate	22690899
Thyroiditis Autoimmune	Associate	25046415
Trifunctional Protein Deficiency With Myopathy And Neuropathy	Associate	34944511
Uveomeningoencephalitic Syndrome	Associate	27716192
Vitamin D Deficiency	Associate	15128933, 22701574, 22855339, 24200978, 25405862, 25942481, 26149120, 27570856, 30609725, 32115644, 32231377, 32517587, 33626316, 34944511, 36233147, 37929021 View all (1 more)
Vitamin D Hydroxylation Deficient Rickets Type 1B	Associate	15128933, 28548312, 35973571

CYP2R1 (cytochrome P450 family 2 subfamily R member 1)