ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

HMGCR

Full Name:

3-hydroxy-3-methylglutaryl-Coenzyme A reductase

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

5q13.3-q14

Physical Location:

74668854-74693680 on NC_000005.8

Gene Type:

protein-coding

Orthologs:

This gene has Rat: 25675 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

H16650

Dataset Information

Name:		12065639
Method:		Microarray
Tissue:		Frontal and motor cortices
Phenotype:		Alcohol dependence (AD)/Alcohol abuse/Alcoholism
Publication:		Mayfield et al. J Neurochem. (2002) Patterns of gene expression are altered in the frontal and motor cortices of human alcoholics. PubMed
Summary:		We used cDNA microarrays to analyze expression of approximately 10 000 genes in the frontal and motor cortices of three groups of chronic alcoholic and matched control cases. Fluorescent intensity ratios of 1.4-fold or greater in either direction (representing the 99% confidence interval) were used to indicate differentially expressed genes.

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.

Linkage Dataset

Marker

LOD

P value

Location (bp)

D5S647

66282906

Region:		66282906-76193808
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

mRNA	Protein	Reference assembly Genomic
NM_000859.1	NP_000850.1	NC_000005.8 range: 74668854..74693680

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0016020	membrane	Cellular Component	IEA
GO:0016021	integral to membrane	Cellular Component	IEA
GO:0005789	endoplasmic reticulum membrane	Cellular Component	TAS (2991281)
GO:0005789	endoplasmic reticulum membrane	Cellular Component	EXP (10698924)
GO:0005783	endoplasmic reticulum	Cellular Component	IEA
GO:0005778	peroxisomal membrane	Cellular Component	IEA
GO:0005777	peroxisome	Cellular Component	IEA
GO:0005624	membrane fraction	Cellular Component	NR
GO:0016491	oxidoreductase activity	Molecular Function	IEA
GO:0004420	hydroxymethylglutaryl-CoA reductase (NADPH) activity	Molecular Function	IEA
GO:0050661	NADP binding	Molecular Function	IEA
GO:0008406	gonad development	Biological Process	TAS (9853754)
GO:0015936	coenzyme A metabolic process	Biological Process	IEA
GO:0008354	germ cell migration	Biological Process	TAS (9853754)
GO:0006695	cholesterol biosynthetic process	Biological Process	IEA
GO:0008299	isoprenoid biosynthetic process	Biological Process	IEA