Identity
HGNC
LOCATION
12q14.1
LOCUSID
ALIAS
CP2B,CYP1,CYP1alpha,CYP27B,P450c1,PDDR,VDD1,VDDR,VDDRI,VDR
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1594
MIM: 609506
HGNC: 2606
Ensembl: ENSG00000111012
Variants:
dbSNP: 1594
ClinVar: 1594
TCGA: ENSG00000111012
COSMIC: CYP27B1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000111012 | ENST00000228606 | O15528 |
| ENSG00000111012 | ENST00000546567 | F8VWR7 |
| ENSG00000111012 | ENST00000546609 | V9GYP0 |
Expression (GTEx)
Pathways
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162263533 | nephrotoxicity | Disease | ClinicalAnnotation | associated | PD | 31619748 | |
| PA164760843 | deferasirox | Chemical | ClinicalAnnotation | associated | PD | 30651574 | |
| PA164784024 | peginterferon alfa-2b | Chemical | ClinicalAnnotation | associated | PD | 21145801 | |
| PA166201941 | tenofovir disoproxil fumarate | Chemical | ClinicalAnnotation | associated | PD | 31619748 | |
| PA446432 | beta-Thalassemia | Disease | ClinicalAnnotation | associated | PD | 30651574 | |
| PA446863 | Hepatitis C, Chronic | Disease | ClinicalAnnotation | associated | PD | 21145801 | |
| PA447230 | HIV Infections | Disease | ClinicalAnnotation | associated | PD | 31619748 | |
| PA451241 | ribavirin | Chemical | ClinicalAnnotation | associated | PD | 21145801 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36321535 | 2023 | Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease. | 0 |
| 36524979 | 2023 | Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. | 0 |
| 37244301 | 2023 | Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1. | 2 |
| 36321535 | 2023 | Genotype-phenotype Description of Vitamin D-dependent Rickets 1A: CYP27B1 p.(Ala129Thr) Variant Induces a Milder Disease. | 0 |
| 36524979 | 2023 | Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries. | 0 |
| 37244301 | 2023 | Local production of active vitamin D(3) metabolites in breast cancer cells by CYP24A1 and CYP27B1. | 2 |
| 35166042 | 2022 | Astrocytes expressing Vitamin D-activating enzyme identify Parkinson's disease. | 6 |
| 35508323 | 2022 | Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study. | 1 |
| 36326421 | 2022 | The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus. | 0 |
| 35166042 | 2022 | Astrocytes expressing Vitamin D-activating enzyme identify Parkinson's disease. | 6 |
| 35508323 | 2022 | Responsible enzymes for metabolizing vitamin D in patients with acute leukemia and the relationship with treatment outcomes: a case-control study. | 1 |
| 36326421 | 2022 | The role of vitamin D-synthesizing enzyme CYP27B1 in systemic lupus erythematosus. | 0 |
| 33058307 | 2021 | Dysregulation of vitamin D synthesis pathway genes in colorectal cancer: A case-control study. | 2 |
| 33305962 | 2021 | Gene variants and haplotypes of Vitamin D biosynthesis, transport, and function in preeclampsia. | 6 |
| 33594806 | 2021 | Vitamin D status and CYP27B1-1260 promoter polymorphism in Tunisian patients with systemic lupus erythematosus. | 4 |
Citation
Dessen P
CYP27B1 (cytochrome P450 family 27 subfamily B member 1)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46401/cyp27b1-(cytochrome-p450-family-27-subfamily-b-member-1)
