Gene Information |
Gene ID: | | 375318 |
Symbol: | | AQP12A |
Full Name: | | aquaporin 12A |
Alias: | | AQP12|AQPX2 |
Organism: | | Homo sapiens (Human) |
Chromosome: | | 2 |
Genetic Location: | | 2q37.3 |
Physical Location: | | 241279934-241286572 on NC_000002.10 |
Gene Type: | | protein-coding |
Orthologs: | | This gene has no orthologs in other dataset(s). |
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Gene in Ethanol Study Datasets |
Linkage Dataset | Marker | LOD | P value | Location (bp) | |
D2S2973 | 2.20 | 0.0007 | 235696080 | D2S140 | 1.95 | 0.0014 | 241388318 | Region: | | 235696080-241388318 | Phenotype: | | WDSFS (withdrawal symptoms factor score) | Name: | | 17067344 | Method: | | Linkage | Publication: | | Kuo et al. Alcohol Clin Exp Res. (2006) Identification of susceptibility loci for alcohol-related traits in the Irish Affected Sib Pair Study of Alcohol Dependence. PubMed | Summary: | | A 4-cM dense whole-genome linkage study was conducted in the Irish Affected Sib Pair Study of Alcohol Dependence. Probands, affected siblings, and parents were evaluated by structured interview. Variance component linkage analysis was applied to data from 485 families for 5 measures: initial sensitivity and tolerance (based on scales from the self-report of the effects of ethanol; maximum drinks within 24 hours, an empirically derived factor score based on withdrawal symptoms, and age at onset of alcohol dependence. |
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Gene Refseq Sequence Annotation |
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Gene Ontology (GO) Annotation |
GO ID | GO Term | Category | Evidence (PubMed) | |
GO:0016020 | membrane | Cellular Component | IEA | |
GO:0016021 | integral to membrane | Cellular Component | IEA | |
GO:0005215 | transporter activity | Molecular Function | IEA | |
GO:0006810 | transport | Biological Process | IEA | |
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Other Database Cross Links |
NCBI Entrez Gene: | | 375318 |
HGNC: | | 19941 |
Ensembl: | | ENSG00000184945 |
MIM: | | 609789 |
HPRD: | | 16504 |
HuGE Navigator: | | 375318 |
dbSNP: | | AQP12A |
GeneCard: | | AQP12A |
AceView: | | AQP12A |