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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).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D2S29732.200.0007235696080
D2S1401.950.0014241388318
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.
Gene Refseq Sequence Annotation
mRNAProteinReference assembly Genomic
NM_198998.1NP_945349.1NC_000002.10 range: 241279934..241286572
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0016020membraneCellular ComponentIEA
GO:0016021integral to membraneCellular ComponentIEA
GO:0005215transporter activityMolecular FunctionIEA
GO:0006810transportBiological ProcessIEA
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