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Gene Information
Gene ID:2040
Symbol:STOM
Full Name:stomatin
Alias:BND7|EPB7|EPB72
Organism:Homo sapiens (Human)
Chromosome:9
Genetic Location:9q34.1
Physical Location:123141173-123172365 on NC_000009.10, complement
Gene Type:protein-coding
Orthologs:This gene has Mouse: 13830 Rat: 296655 ortholog(s) in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D9S9342.280.0006120135477
D9S16822.330.0005124033322
Region:120135477-124033322
Phenotype:ONSET (age at onset of AD)
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_004099.4NP_004090.4NC_000009.10 range: 123141173..123172365, complement
NM_198194.1NP_937837.1NC_000009.10 range: 123141173..123172365, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0005856cytoskeletonCellular ComponentIDA (1547348)
GO:0005886plasma membraneCellular ComponentIEA
GO:0005887integral to plasma membraneCellular ComponentIDA (1547348)
GO:0042470melanosomeCellular ComponentIEA
GO:0045121membrane raftCellular ComponentIDA (12130500)
GO:0005515protein bindingMolecular FunctionIPI (17353931)
GO:0051260protein homooligomerizationBiological ProcessIDA (9642292)
Other Database Cross Links
NCBI Entrez Gene:2040
HGNC:3383
Ensembl:ENSG00000148175
MIM:133090
HPRD:00585
HuGE Navigator:2040
dbSNP:STOM
GeneCard:STOM
AceView:STOM