ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PDCD6IP

Full Name:

programmed cell death 6 interacting protein

Alias:

AIP1|Alix|DRIP4|HP95|MGC17003

Organism:

Homo sapiens (Human)

Chromosome:

3

Genetic Location:

3p22.3

Physical Location:

33814560-33886197 on NC_000003.10

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
rs321967 dbSNP	1.17	31
rs2190662 dbSNP	1.18	31
rs2190665 dbSNP	0.71	31

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_013374.3	NP_037506.2	NC_000003.10 range: 33814560..33886197

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005737	cytoplasm	Cellular Component	IEA
GO:0005829	cytosol	Cellular Component	TAS (9880530)
GO:0042470	melanosome	Cellular Component	IEA
GO:0004871	signal transducer activity	Molecular Function	TAS (10200558)
GO:0004872	receptor activity	Molecular Function	IEA
GO:0005515	protein binding	Molecular Function	IPI (11883939)
GO:0006915	apoptosis	Biological Process	IEA
GO:0015031	protein transport	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000170248

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: