ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CAST

Full Name:

calpastatin

Alias:

BS-17|MGC9402

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

5q15

Physical Location:

96023696-96136142 on NC_000005.8

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 25403 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:		Hs.440961
Note:		"Class II, down-regulated gene"

Dataset Information

Name:		16292326
Method:		Microarray
Tissue:		Frontal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Liu et al. Neuropsychopharmacology. (2006) Patterns of gene expression in the frontal cortex discriminate alcoholic from nonalcoholic individuals. PubMed
Summary:		In the present study, microarray analysis (approximately 47,000 elements) was performed on the superior frontal cortex of 27 individual human cases (14 well characterized alcoholics and 13 matched controls). A classification system was developed in which differentially expressed genes were divided into two classes. Class I genes were qualitatively different, that is, they were predominantly detected in one group but not the other. Multiple criteria were used to define Class II genes. First, only the genes detected on over 80% of the arrays in both groups. Class II were then defined as those consistently detected in both groups having absolute PLS loadings scores of >2.0 and t- probabilities of <0.05.

Gene Information

Original ID1:

CAST

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D5S644

95838450

Region:		95838450-103990852
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).

Gene Refseq Sequence Annotation

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0030161	calpain inhibitor activity	Molecular Function	IEA