Gene:
CYP27B1
cytochrome P450, family 27, subfamily B, polypeptide 1

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all variant annotations for CYP27B1

Variant?
(144)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs10877012 *694C>A, *872C>A, -1261C>A, 20305391G>T, 3892C>A, 58162085G>T
G > T
5' Flanking
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 144

Overview

Alternate Names:  1alpha(OH)ase; 25-Hydroxyvitamin D3 1alpha-hydroxylase; PDDR; VDD1; VDDR I
Alternate Symbols:  CYP1; P450c1
PharmGKB Accession Id: PA27099

Details

Cytogenetic Location: chr12 : q14.1 - q13.3
GP mRNA Boundary: chr12 : 58156117 - 58160976
GP Gene Boundary: chr12 : 58153117 - 58170976
Strand: minus

Visualization

UCSC has a Genome Browser that you can use to view PharmGKB annotations for this gene in context with many other sources of information.

View on UCSC Browser
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

PharmGKB contains no curated pathways for this gene. If you would like to volunteer to work on a pathway, please let us know.

External Pathways

Links to non-PharmGKB pathways.

  1. Vitamin D (calciferol) metabolism - (Reactome via Pathway Interaction Database)
  2. Vitamins - (Reactome via Pathway Interaction Database)
No related genes are available

Curated Information ?

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Hepatitis C, Chronic

Publications related to CYP27B1: 6

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Enhancement of hepatic 4-hydroxylation of 25-hydroxyvitamin D(3) through CYP3A4 induction in vitro and in vivo: Implications for drug-induced osteomalacia. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research. 2012. Wang Zhican, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Human genetic variation of CYP450 superfamily: analysis of functional diversity in worldwide populations. Pharmacogenomics. 2012. Polimanti Renato, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Influence of vitamin D-related gene polymorphisms (CYP27B and VDR) on the response to interferon/ribavirin therapy in chronic hepatitis C. PloS one. 2013. García-Martín Elena, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Mutations in CYP24A1 and Idiopathic Infantile Hypercalcemia. The New England journal of medicine. 2011. Schlingmann Karl P, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Genetic variation in CYP27B1 is associated with congestive heart failure in patients with hypertension. Pharmacogenomics. 2009. Wilke Russell A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Asthma and genes encoding components of the vitamin D pathway. Respiratory research. 2009. Bossé Yohan, et al. PubMed

LinkOuts

Entrez Gene:
1594
OMIM:
264700
609506
UCSC Genome Browser:
NM_000785
RefSeq RNA:
NM_000785
RefSeq Protein:
NP_000776
RefSeq DNA:
AC_000055
AC_000144
NC_000012
NG_007076
NT_029419
NW_001838060
NW_925395
HuGE:
CYP27B1
Comparative Toxicogenomics Database:
1594
ModBase:
O15528
HumanCyc Gene:
HS03361
HGNC:
2606

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