Gene:
GJA1
gap junction protein, alpha 1, 43kDa

PharmGKB contains no prescribing info for this . Contact us to report known genotype-based dosing guidelines, or if you are interested in developing guidelines.

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.

? = Mouse-over for quick help

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 GJA1

Variant?
(147)
Alternate Names ? Chemicals ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
rs3805787 NC_000006.11:g.121758907A>G, NC_000006.12:g.121437761A>G, NG_008308.1:g.7163A>G, NM_000165.4:c.-17+1929A>G, rs56646584, rs57701531
A > G
SNP
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 147

Overview

Alternate Names:  GJAL; ODDD; connexin 43; oculodentodigital dysplasia (syndactyly type III)
Alternate Symbols:  CX43; ODD; ODOD; SDTY3
PharmGKB Accession Id: PA28685

Details

Cytogenetic Location: chr6 : q21 - q23.2
GP mRNA Boundary: chr6 : 121756745 - 121770873
GP Gene Boundary: chr6 : 121746745 - 121773873
Strand: plus

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.

  1. Antiarrhythmic Pathway, Pharmacodynamics
    Pharmacodynamic pathway of antiarrhythmic drugs in a stylized cardiac myocyte.
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
cisplatin
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
vancomycin
Evidence Drug Class
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
antiarrhythmics, class i and iii

Curated Information ?

Publications related to GJA1: 4

No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Genome-Wide Association Study of Serum Creatinine Levels during Vancomycin Therapy. PloS one. 2015. Van Driest Sara L, 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
Gene expression response to cisplatin treatment in drug-sensitive and drug-resistant ovarian cancer cells. Oncogene. 2007. Li 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
Treatment-specific changes in gene expression discriminate in vivo drug response in human leukemia cells. Nature genetics. 2003. Cheok Meyling H, 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
The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991. Fishman G I, et al. PubMed

LinkOuts

NCBI Gene:
2697
OMIM:
121014
164200
186100
234100
241550
257850
600309
UCSC Genome Browser:
NM_000165
RefSeq RNA:
NM_000165
RefSeq Protein:
NP_000156
RefSeq DNA:
NG_008308
NT_025741
UniProtKB:
CXA1_HUMAN (P17302)
Ensembl:
ENSG00000152661
GenAtlas:
GJA1
GeneCard:
GJA1
MutDB:
GJA1
ALFRED:
LO077140T
HuGE:
GJA1
Comparative Toxicogenomics Database:
2697
ModBase:
P17302
HumanCyc Gene:
HS07842
HGNC:
4274

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