ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

NR1H4

Full Name:

nuclear receptor subfamily 1, group H, member 4

Alias:

BAR|FXR|HRR-1|HRR1|MGC163445|RIP14

Organism:

Homo sapiens (Human)

Chromosome:

12

Genetic Location:

12q23.1

Physical Location:

99391809-99481773 on NC_000012.10

Gene Type:

protein-coding

Orthologs:

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

Gene in Ethanol Study Datasets

Linkage Dataset

Marker

LOD

P value

Location (bp)

D12S346

98052454

Region:		98052454-102788867
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_005123.2	NP_005114.1	NC_000012.10 range: 99391809..99481773

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0003700	transcription factor activity	Molecular Function	TAS (9223286\|10334992)
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0043565	sequence-specific DNA binding	Molecular Function	IEA
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0047485	protein N-terminus binding	Molecular Function	IPI (12917342)
GO:0003714	transcription corepressor activity	Molecular Function	TAS (10334992)
GO:0003713	transcription coactivator activity	Molecular Function	TAS (10334992)
GO:0003707	steroid hormone receptor activity	Molecular Function	IEA
GO:0006350	transcription	Biological Process	IEA
GO:0007165	signal transduction	Biological Process	TAS (10334993)
GO:0008206	bile acid metabolic process	Biological Process	TAS (10334992)
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA

Other Database Cross Links

NCBI Entrez Gene:

HGNC:

Ensembl:

ENSG00000012504

MIM:

HPRD:

HuGE Navigator:

dbSNP:

GeneCard:

AceView: