ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

HLA-C

Full Name:

major histocompatibility complex, class I, C

Alias:

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

6p21.3

Physical Location:

31344507-31347833 on NC_000006.10, complement

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Gene Information

Dataset Information

Name:		12774316
Method:		Microarray
Tissue:		Temporal cortex
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Sokolov et al. J Neurosci Res. (2003) Transcription profiling reveals mitochondrial, ubiquitin and signaling systems abnormalities in postmortem brains from subjects with a history of alcohol abuse or dependence. PubMed
Summary:		To identify candidate mechanisms for alcohol abuse, the expression of 12,626 genes was measured in postmortem temporal cortex from 11 subjects with a history of alcohol abuse or dependence, with or without other psychiatric diagnoses and compared pairwise with the expression in 11 nonalcoholic subjects matched for the other psychiatric diagnoses and demographics. Genes were defined to have altered expression in alcohol abuse if: 1) the gene showed decreased expression in at least 10 of 11 subjects with alcohol abuse, or showed increased expression in at least 10 of 11 subjects with this diagnosis compared to matched non-abusers (P<0.007, X2test); or 2) the difference in the mean abuser/non-abuser ratio for the gene from value of 1.0 was significant at P<0.05 (one sample t-test). In subjects with a history of alcohol abuse or dependence, 163 genes were changed significantly.

Gene Information

HuGE Navigator Dataset

Name:		HuGE Navigator
Method:		Literature data mining
Publication:		Wei Yu, Melinda Clyne, Anja Wulf, Ajay Yesupriya, Marta Gwinn and Muin J. Khoury. Phenopedia. HuGE Navigator. Available at: http://www.hugenavigator.net/HuGENavigator/startPagePhenoPedia.do. Accessed [Jun. 10, 2008].
Summary:		HuGE Navigator Phenopedia provides a disease-centered view of genetic association studies summarized in the online Human Genome Epidemiology (HuGE) encyclopedia. We extracted genes associated to 9 Alcohol-related diseases (Alcohol Amnestic Disorder; Alcohol Withdrawal Delirium; Alcohol Withdrawal Seizures; Alcohol-Induced Disorders; Alcohol-Induced Disorders, Nervous System; Alcohol-Related Disorders; Alcoholic Intoxication; Alcoholic Neuropathy; Alcoholism) from HuGE Navigator Phenopedia.

Gene Refseq Sequence Annotation

mRNA	Protein	Reference assembly Genomic
NM_002117.4	NP_002108.4	NC_000006.10 range: 31344507..31347833, complement

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0042612	MHC class I protein complex	Cellular Component	IEA
GO:0016020	membrane	Cellular Component	NAS (3485286)
GO:0016020	membrane	Cellular Component	IEA
GO:0005887	integral to plasma membrane	Cellular Component	NAS (1384166\|2708822\|2787363\|2843461)
GO:0005886	plasma membrane	Cellular Component	IEA
GO:0005858	axonemal dynein complex	Cellular Component	NAS (9373155)
GO:0005576	extracellular region	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0032393	MHC class I receptor activity	Molecular Function	NAS (1384166\|2708822\|2787363\|2843461)
GO:0003777	microtubule motor activity	Molecular Function	NAS (9373155)
GO:0032395	MHC class II receptor activity	Molecular Function	NAS (3485286)
GO:0019882	antigen processing and presentation	Biological Process	IEA
GO:0006955	immune response	Biological Process	NAS (1384166\|2708822\|2787363\|2843461\|3485286)
GO:0006955	immune response	Biological Process	IEA
GO:0002474	antigen processing and presentation of peptide antigen via MHC class I	Biological Process	IEA
GO:0001539	ciliary or flagellar motility	Biological Process	NAS (9373155)