ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

CTSB

Full Name:

cathepsin B

Alias:

APPS|CPSB

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

8p22

Physical Location:

11737441-11763054 on NC_000008.9, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 13030 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D8S550

10918926

Region:		8918926-12918926
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:0005622	intracellular	Cellular Component	TAS (1645961)
GO:0005764	lysosome	Cellular Component	IEA
GO:0042470	melanosome	Cellular Component	IEA
GO:0004197	cysteine-type endopeptidase activity	Molecular Function	IEA
GO:0004213	cathepsin B activity	Molecular Function	TAS (1645961)
GO:0005515	protein binding	Molecular Function	IPI (16364318)
GO:0042981	regulation of apoptosis	Biological Process	TAS (16130169)
GO:0006508	proteolysis	Biological Process	TAS (3463996)
GO:0006508	proteolysis	Biological Process	IEA
GO:0050790	regulation of catalytic activity	Biological Process	IEA