CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

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
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
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 miRNA information provided by mirtarbase database.
8
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (8)
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (34)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608713 20580 ENSG00000186104
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Sequence length 501
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Steroid biosynthesis
Metabolic pathways 		  Vitamin D (calciferol) metabolism
Vitamins
Defective CYP2R1 causes Rickets vitamin D-dependent 1B (VDDR1B)
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (4)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
CYP2R1-related disorder Likely pathogenic; Pathogenic rs576642411, rs61495246, rs1422405747 RCV004754817
RCV004754234
RCV003416131
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hypophosphataemia or rickets Likely pathogenic; Pathogenic rs61495246 RCV006436374
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (5 more)
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Vitamin D-dependent rickets, type 1 Likely pathogenic; Pathogenic rs61495246 RCV001195424
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (22)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTISM SPECTRUM DISORDER — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BONE DISEASES, METABOLIC — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BRAIN INFARCTION — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (129)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 30028992
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Rickets Rickets HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Age related macular degeneration Age-related macular degeneration BEFREE 28029444
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis Pubtator 32344004 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 30796319, 34925313 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 19852851, 21613960, 21810276, 25845986, 28590769
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 19852851, 21613960, 21810276 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Astrocytoma Astrocytoma Pubtator 22740028 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autism Spectrum Disorder Autism Pubtator 26073892 Associate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autism Spectrum Disorders Autism Spectrum Disorder BEFREE 26073892
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations