ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PCSK5

Full Name:

proprotein convertase subtilisin/kexin type 5

Alias:

PC5|PC6|PC6A|SPC6

Organism:

Homo sapiens (Human)

Chromosome:

9

Genetic Location:

9q21.3

Physical Location:

77695440-77998163 on NC_000009.10

Gene Type:

protein-coding

Orthologs:

This gene has no orthologs in other dataset(s).

Gene in Ethanol Study Datasets

Gene SNP Information

SNP	Abuser/Control Ratio	Cluster
rs572811 dbSNP	1.22	38
rs10512042 dbSNP	1.33	38
rs10521468 dbSNP	1.22	38
rs2270571 dbSNP	0.83	38

Association Dataset

Name:		16894614
Method:		Association
Publication:		Johnson et al. Am J Med Genet B Neuropsychiatr Genet. (2006) Pooled association genome scanning for alcohol dependence using 104,268 SNPs: validation and use to identify alcoholism vulnerability loci in unrelated individuals from the collaborative study on the genetics of alcoholism. PubMed
Summary:		Association genome scanning can identify markers for the allelic variants that contribute to vulnerability to complex disorders, including alcohol dependence. To improve the power and feasibility of this approach, we report validation of 100k microarray-based allelic frequency assessments in pooled DNA samples. We then use this approach with unrelated alcohol-dependent versus control individuals sampled from pedigrees collected by the Collaborative Study on the Genetics of Alcoholism (COGA). Allele frequency differences between alcohol-dependent and control individuals are assessed in quadruplicate at 104,268 autosomal SNPs in pooled samples. One hundred eighty-eight SNPs provide (1) the largest allele frequency differences between dependent versus control individuals; (2) t values 3 for these differences; and (3) clustering, so that 51 relatively small chromosomal regions contain at least three SNPs that satisfy criteria 1 and 2 above (Monte Carlo P = 0.00034).

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_006200.2	NP_006191.2	NC_000009.10 range: 77695440..77998163

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0005615	extracellular space	Cellular Component	TAS (8901832)
GO:0005794	Golgi apparatus	Cellular Component	IDA (11256614)
GO:0005796	Golgi lumen	Cellular Component	EXP (8615794)
GO:0004289	subtilase activity	Molecular Function	IEA
GO:0008233	peptidase activity	Molecular Function	IEA
GO:0007267	cell-cell signaling	Biological Process	TAS (8901832)
GO:0006508	proteolysis	Biological Process	TAS (8901832)
GO:0006508	proteolysis	Biological Process	IEA
GO:0006465	signal peptide processing	Biological Process	IDA (16912035)
GO:0032455	nerve growth factor processing	Biological Process	EXP (12787574)

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000099139

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: