CYP2R1 (cytochrome P450 family 2 subfamily R member 1)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
120227
Gene name Gene Name - the full gene name approved by the HGNC.
Cytochrome P450 family 2 subfamily R member 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CYP2R1
Synonyms (NCBI Gene) Gene synonyms aliases
-
Chromosome Chromosome number
11
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
11p15.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
608713 20580 ENSG00000186104
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal
Disease term Disease name dbSNP ID References
Hyperparathyroidism Hyperparathyroidism, Secondary rs28942098, rs121434262, rs80356649, rs121434264, rs587776558, rs587776559, rs121909259, rs104893689, rs28936684, rs104893690, rs869320729, rs104893700, rs104893705, rs104893707, rs104893709
View all (14 more)
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
View all (23 more)		 25942481, 27716192, 15128933
Show/Hide Unknown Diseases (1)
Unknown
Disease term Disease name Evidence References Source
Vitamin D-Dependent Rickets vitamin D hydroxylation-deficient rickets, type 1B GenCC
Show/Hide Text Mining Associations (62)
Associations from Text Mining
Disease Name Relationship Type References
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