Gene:
GJB2
gap junction protein, beta 2, 26kDa

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 contains no drug labels with pharmacogenomic information for this . To report a drug label with PGx, click here.

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:  connexin 26
Alternate Symbols:  CX26; NSRD1
PharmGKB Accession Id: PA28695

Details

Cytogenetic Location: chr13 : q11 - q12.11
GP mRNA Boundary: chr13 : 20761602 - 20767114
GP Gene Boundary: chr13 : 20758602 - 20777114
Strand: minus
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. Oligomerization of connexins into connexons - (Reactome via Pathway Interaction Database)
  2. Transport of connexons to the plasma membrane - (Reactome via Pathway Interaction Database)

Publications related to GJB2: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Understanding platinum-induced ototoxicity. Trends in pharmacological sciences. 2013. Langer Thorsten, 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
Pharmacogenomics of cisplatin-induced ototoxicity. Pharmacogenomics. 2011. Mukherjea Debashree, 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
A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2. American journal of human genetics. 2007. Amr Sami, 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
Hearing genes and cisplatin deafness: a pilot study. The Laryngoscope. 2006. Knoll Christine, et al. PubMed

LinkOuts

Entrez Gene:
2706
OMIM:
121011
124500
148210
148350
149200
220290
601544
602540
UCSC Genome Browser:
NM_004004
RefSeq RNA:
NM_004004
RefSeq Protein:
NP_003995
MutDB:
GJB2
ALFRED:
LO218054U
HuGE:
GJB2
Comparative Toxicogenomics Database:
2706
HumanCyc Gene:
HS09236
HGNC:
4284

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