| Gene Information |
| Gene ID: | | 57158 |
| Symbol: | | JPH2 |
| Full Name: | | junctophilin 2 |
| Alias: | | FLJ40969|JP-2|JP2 |
| Organism: | | Homo sapiens (Human) |
| Chromosome: | | 20 |
| Genetic Location: | | 20q13.12 |
| Physical Location: | | 42173750-42249631 on NC_000020.9, complement |
| Gene Type: | | protein-coding |
| Orthologs: | | This gene has no orthologs in other dataset(s). |
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| Gene in Ethanol Study Datasets |
| Gene Information | | Original ID1: | | AL035447 | | Fold Change: | | 0.74 | | P Value: | | 0.0077 |
| | Dataset Information | | Name: | | 12774316 | | Method: | | Microarray | | Tissue: | | Temporal cortex | | Phenotype: | | Alcohol dependence (AD)/Alcohol abuse/Alcoholism | | Publication: | | Sokolov et al. J Neurosci Res. (2003) Transcription profiling reveals mitochondrial, ubiquitin and signaling systems abnormalities in postmortem brains from subjects with a history of alcohol abuse or dependence. PubMed | | Summary: | | To identify candidate mechanisms for alcohol abuse, the expression of 12,626 genes was measured in postmortem temporal cortex from 11 subjects with a history of alcohol abuse or dependence, with or without other psychiatric diagnoses and compared pairwise with the expression in 11 nonalcoholic subjects matched for the other psychiatric diagnoses and demographics. Genes were defined to have altered expression in alcohol abuse if: 1) the gene showed decreased expression in at least 10 of 11 subjects with alcohol abuse, or showed increased expression in at least 10 of 11 subjects with this diagnosis compared to matched non-abusers (P<0.007, X2test); or 2) the difference in the mean abuser/non-abuser ratio for the gene from value of 1.0 was significant at P<0.05 (one sample t-test). In subjects with a history of alcohol abuse or dependence, 163 genes were changed significantly. |
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| Linkage Dataset | | Marker | LOD | P value | Location (bp) | |
| D20S119 | | | 43082264 | | Region: | | 41082264-45082264 | | Phenotype: | | Alcoholism phenotype along with age, gender, and P300 or constraint | | Name: | | 15211641 | | Method: | | Linkage | | Publication: | | Hill et al. Am J Med Genet B Neuropsychiatr Genet. (2004) A genome wide search for alcoholism susceptibility genes. PubMed | | Summary: | | A total of 360 markers for 22 autosomes were spaced at an average distance of 9.4cMand genotyping performed for 330 members of these multiplex families. Extensive clinical data, personality variation, and event-related potential characteristics were available for reducing heterogeneity and detecting robust linkage signals. Multipoint linkage analysis using different analytic strategies give strong support for loci on chromosomes 1, 2, 6, 7, 10, 12, 14, 16, and 17. Thirty five markers with LOD score >2.0 at baseline using the binary alcoholism phenotype along with age, gender, and P300 or constraint (Table III). Here we listed the genes between two near markers or genes near a separate marker (within 2Mb). |
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| Gene Refseq Sequence Annotation |
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| Gene Ontology (GO) Annotation |
| GO ID | GO Term | Category | Evidence (PubMed) | |
| GO:0005886 | plasma membrane | Cellular Component | IEA | |
| GO:0016021 | integral to membrane | Cellular Component | IEA | |
| GO:0033017 | sarcoplasmic reticulum membrane | Cellular Component | IEA | |
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| Other Database Cross Links |
| NCBI Entrez Gene: | | 57158 |
| HGNC: | | 14202 |
| Ensembl: | | ENSG00000149596 |
| MIM: | | 605267 |
| HPRD: | | 12006 |
| HuGE Navigator: | | 57158 |
| dbSNP: | | JPH2 |
| GeneCard: | | JPH2 |
| AceView: | | JPH2 |
