Gene:
COL1A2
collagen, type I, alpha 2

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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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

Overview

Alternate Names:  alpha 2(I)-collagen; alpha-2 collagen type I; collagen I, alpha-2 polypeptide; collagen of skin, tendon and bone, alpha-2 chain; type I procollagen
Alternate Symbols:  None
PharmGKB Accession Id: PA35042

Details

Cytogenetic Location: chr7 : q22.1 - q21.3
GP mRNA Boundary: chr7 : 94023873 - 94060544
GP Gene Boundary: chr7 : 94013873 - 94063544
Strand: plus
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.

Publications related to COL1A2: 3

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Rapid and robust response of biochemical markers of bone formation to teriparatide therapy. Bone. 2009. Glover Sarah J, 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
Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans. Human mutation. 2007. Marini Joan C, 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
Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. Human mutation. 2006. Lee Kwang-Soo, et al. PubMed

LinkOuts

Entrez Gene:
1278
OMIM:
120160
130060
166220
166710
225320
UCSC Genome Browser:
NM_000089
RefSeq RNA:
NM_000089
RefSeq Protein:
NP_000080
MutDB:
COL1A2
ALFRED:
LO000230F
HuGE:
COL1A2
Comparative Toxicogenomics Database:
1278
HumanCyc Gene:
HS09118
HGNC:
2198

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