| Gene Information |
| Gene ID: | | 2705 |
| Symbol: | | GJB1 |
| Full Name: | | gap junction protein, beta 1, 32kDa |
| Alias: | | CMTX|CMTX1|CX32 |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | X |
| Genetic Location: | | Xq13.1 |
| Physical Location: | | 70351786-70361776 on NC_000023.9 |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
|
| Gene in Ethanol Study Datasets |
| Gene Information | | Original ID1: | | Hs.333303 | | Note: | | "Class II, down-regulated gene" |
| | Dataset Information | | Name: | | 16292326 | | Method: | | Microarray | | Tissue: | | Frontal cortex | | Phenotype: | | Alcohol dependence (AD)/Alcohol abuse/Alcoholism | | Publication: | | Liu et al. Neuropsychopharmacology. (2006) Patterns of gene expression in the frontal cortex discriminate alcoholic from nonalcoholic individuals. PubMed | | Summary: | | In the present study, microarray analysis (approximately 47,000 elements) was performed on the superior frontal cortex of 27 individual human cases (14 well characterized alcoholics and 13 matched controls). A classification system was developed in which differentially expressed genes were divided into two classes. Class I genes were qualitatively different, that is, they were predominantly detected in one group but not the other. Multiple criteria were used to define Class II genes. First, only the genes detected on over 80% of the arrays in both groups. Class II were then defined as those consistently detected in both groups having absolute PLS loadings scores of >2.0 and t- probabilities of <0.05. |
|
|
| Gene Refseq Sequence Annotation |
|
| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0005789 | endoplasmic reticulum membrane | Cellular Component | EXP (9184217) | |
| GO:0005886 | plasma membrane | Cellular Component | IEA | |
| GO:0005922 | connexon complex | Cellular Component | TAS (2875078) | |
| GO:0016021 | integral to membrane | Cellular Component | IEA | |
| GO:0030054 | cell junction | Cellular Component | IEA | |
| GO:0005243 | gap junction channel activity | Molecular Function | EXP (9184217) | |
| GO:0006810 | transport | Biological Process | TAS (2875078) | |
| GO:0007267 | cell-cell signaling | Biological Process | TAS (8266101) | |
| GO:0007399 | nervous system development | Biological Process | TAS (8266101) | |
|
| Other Database Cross Links |
| NCBI Entrez Gene: | | 2705 |
| HGNC: | | 4283 |
| Ensembl: | | ENSG00000169562 |
| MIM: | | 304040 |
| HPRD: | | 02367 |
| HuGE Navigator: | | 2705 |
| dbSNP: | | GJB1 |
| GeneCard: | | GJB1 |
| AceView: | | GJB1 |
