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Gene Information
Gene ID:1293
Symbol:COL6A3
Full Name:collagen, type VI, alpha 3
Alias:DKFZp686D23123|DKFZp686K04147|FLJ34702
Organism:Homo sapiens (Human)
Chromosome:2
Genetic Location:2q37
Physical Location:237897400-237987558 on NC_000002.10, complement
Gene Type:protein-coding
Orthologs:This gene has Mouse: 12835 ortholog(s) 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_004369.3NP_004360.2NC_000002.10 range: 237897400..237987558, complement
NM_057164.3NP_476505.2NC_000002.10 range: 237897400..237987558, complement
NM_057165.3NP_476506.2NC_000002.10 range: 237897400..237987558, complement
NM_057166.3NP_476507.2NC_000002.10 range: 237897400..237987558, complement
NM_057167.3NP_476508.2NC_000002.10 range: 237897400..237987558, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005589collagen type VICellular ComponentTAS (8782832)
GO:0005737cytoplasmCellular ComponentIEA
GO:0005576extracellular regionCellular ComponentIEA
GO:0005578proteinaceous extracellular matrixCellular ComponentIEA
GO:0004867serine-type endopeptidase inhibitor activityMolecular FunctionIEA
GO:0005515protein bindingMolecular FunctionIEA
GO:0005198structural molecule activityMolecular FunctionIEA
GO:0006817phosphate transportBiological ProcessIEA
GO:0007155cell adhesionBiological ProcessIEA
GO:0007517muscle developmentBiological ProcessTAS (8782832)
Other Database Cross Links
NCBI Entrez Gene:1293
HGNC:2213
Ensembl:ENSG00000163359
MIM:120250
HPRD:00371
HuGE Navigator:1293
dbSNP:COL6A3
GeneCard:COL6A3
AceView:COL6A3