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Gene Information
Gene ID:2697
Symbol:GJA1
Full Name:gap junction protein, alpha 1, 43kDa
Alias:CX43|DFNB38|GJAL|ODDD
Organism:Homo sapiens (Human)
Chromosome:6
Genetic Location:6q21-q23.2
Physical Location:121798443-121812571 on NC_000006.10
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Gene Information
Original ID1:X52947
Fold Change:-1.4, -1.8
Note:Differential expression on the oligonucleotide array (two fold changes are from two case groups)
Dataset Information
Name:11141048
Method:Microarray
Tissue:Frontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Lewohl et al. Alcohol Clin Exp Res. (2000) Gene expression in human alcoholism: microarray analysis of frontal cortex. PubMed
Summary:RNA was extracted from postmortem samples of superior frontal cortex of alcoholics and nonalcoholics. Relative levels of RNA were determined by array techniques. This study used both cDNA and oligonucleotide microarrays to provide coverage of a large number of genes and to allow cross-validation for those genes represented on both types of arrays. Expression levels were determined for over 4000 genes and 163 of these were found to differ by 40% or more between alcoholics and nonalcoholics.
Gene Information
Original ID1:X52947
Fold Change:2.26
Dataset Information
Name:15236863
Method:Microarray
Tissue:Prefrontal cortex
Phenotype:Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:Iwamoto et al. Neurosci Res. (2004) Decreased expression of NEFH and PCP4/PEP19 in the prefrontal cortex of alcoholics. PubMed
Summary:We have performed oligonucleotide microarray analysis in postmortem prefrontal cortices of alcoholics. Among about 12,000 genes represented on microarray, a total of 79 genes showed differential expression changes in alcoholics compared with control subjects, consisting of 54 up- and 25 down-regulated genes.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_000165.3NP_000156.1NC_000006.10 range: 121798443..121812571
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005922connexon complexCellular ComponentTAS (1850831)
GO:0030054cell junctionCellular ComponentIEA
GO:0005886plasma membraneCellular ComponentEXP (11124251|12506110|12907686)
GO:0005886plasma membraneCellular ComponentIEA
GO:0005887integral to plasma membraneCellular ComponentTAS (15709751)
GO:0030660Golgi-associated vesicle membraneCellular ComponentEXP (12149451)
GO:0004871signal transducer activityMolecular FunctionIMP (12761501)
GO:0005515protein bindingMolecular FunctionISS
GO:0015075ion transmembrane transporter activityMolecular FunctionTAS (1696265)
GO:0016264gap junction assemblyBiological ProcessTAS (15709751)
GO:0007605sensory perception of soundBiological ProcessIEA
GO:0007507heart developmentBiological ProcessTAS (7715640)
GO:0007267cell-cell signalingBiological ProcessTAS (7715640)
GO:0006936muscle contractionBiological ProcessTAS (7715640)
GO:0006810transportBiological ProcessTAS (1696265)
GO:0043123positive regulation of I-kappaB kinase/NF-kappaB cascadeBiological ProcessIMP (12761501)
Other Database Cross Links
NCBI Entrez Gene:2697
HGNC:4274
Ensembl:ENSG00000152661
MIM:121014
HPRD:00414
HuGE Navigator:2697
dbSNP:GJA1
GeneCard:GJA1
AceView:GJA1