PharmGKB: The Pharmacogenomics Knowledge Base

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

Overview

Alternate Names: (connexin; 43); OTTHUMP00000017111; connexin 43; gap junction 43 kDa heart protein; gap junction protein, alpha 1, 43kD; gap junction protein, alpha 1, 43kD (connexin 43); gap junction protein, alpha 1, 43kDa (connexin 43); gap junction protein, alpha-like; oculodentodigital dysplasia (syndactyly type III)
Alternate Symbols: CX43; DFNB38; GJAL; ODD; ODDD; ODOD; SDTY3
PharmGKB Accession Id: PA28685

Details

Cytogenetic Location: chr6 : q22.31
GP mRNA Boundary†: chr6 : 121798487 - 121812571
GP Gene Boundary†: chr6 : 121788487 - 121815571
Strand: plus
Product Name: connexin 43, gap junction protein, alpha-like, oculodentodigital dysplasia (syndactyly type III)
† 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.

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antiarrhythmics, class i and iii
  •   
  • PD
  •   
  •   
  • GN
Publications, Pathways
  Drug Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
amiodarone
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
arsenic trioxide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cisapride
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
cisplatin
  • CO
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
disopyramide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
dofetilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
droperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
flecainide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
halofantrine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
haloperidol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ibutilide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
lidocaine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
mercaptopurine
  •   
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
mesoridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
methadone
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
methotrexate
  •   
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
mexiletine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pentamidine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pimozide
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
procainamide
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
propafenone
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
quinidine
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
sotalol
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
sparfloxacin
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
thioridazine
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
tocainide
  •   
  • PD
  •   
  •   
  •   
Pathways

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Ovarian Neoplasms
  • CO
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Precursor Cell Lymphoblastic Leukemia-Lymphoma
  •   
  • PD
  •   
  • FA
  • GN
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

LinkOuts

Entrez Gene ID:
2697
OMIM Accession:
121014
164200
186100
241550
600309
UCSC Genome Browser ID:
NM_000165
Ref Seq NM Accession:
NM_000165
Ref Seq NP Accession:
AAA52131
AAD37802
AAH26329
ABM84575
ABM86537
BAD97009
BAG35246
BAG57837
BAG58393
BAG60109
BAG60112
CAA37122
CAG46461
CAI20002
EAW48178
NP_000156
P17302
Q53FJ6
Ref Seq NT Accession:
AC_000049
AC_000138
NC_000006
NG_008308
NT_025741
NW_001838990
NW_923184
UniProtKB Accesssion:
CXA1_HUMAN (P17302)
Ensembl ID:
ENSG00000152661
GenAtlas ID:
GJA1
GeneCard ID:
GJA1
SOURCE ID:
GJA1
MutDB ID:
GJA1
PromoLign ID:
ortho_2819
HuGE ID:
GJA1
Comparative Toxicogenomics Acc ID:
2697
ModBase:
P17302

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
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