ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CASP8

Full Name:

caspase 8, apoptosis-related cysteine peptidase

Alias:

ALPS2B|CAP4|FLICE|MACH|MCH5|MGC78473

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

2q33-q34

Physical Location:

201806410-201860678 on NC_000002.10

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 12370 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D2S117

195326948

Region:		195326948-216757195
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:0005737	cytoplasm	Cellular Component	IEA
GO:0005739	mitochondrion	Cellular Component	TAS (10891503)
GO:0005829	cytosol	Cellular Component	EXP (8681376\|9721089\|10894160\|12804595\|12887920)
GO:0005856	cytoskeleton	Cellular Component	TAS (10891503)
GO:0004871	signal transducer activity	Molecular Function	IEP (12761501)
GO:0030693	caspase activity	Molecular Function	TAS (8681376)
GO:0042802	identical protein binding	Molecular Function	IPI (11717445)
GO:0008234	cysteine-type peptidase activity	Molecular Function	TAS (8681376)
GO:0030693	caspase activity	Molecular Function	EXP (12804595)
GO:0042981	regulation of apoptosis	Biological Process	IEA
GO:0008633	activation of pro-apoptotic gene products	Biological Process	EXP (14644197)
GO:0008624	induction of apoptosis by extracellular signals	Biological Process	EXP (11048727)
GO:0006508	proteolysis	Biological Process	IDA (12888622)
GO:0043123	positive regulation of I-kappaB kinase/NF-kappaB cascade	Biological Process	IEP (12761501)