ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

HNF4A

Full Name:

hepatocyte nuclear factor 4, alpha

Alias:

FLJ39654|HNF4|HNF4a7|HNF4a8|HNF4a9|MODY|MODY1|NR2A1|NR2A21|TCF|TCF14

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

20q12-q13.1

Physical Location:

42417854-42493443 on NC_000020.9

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)

D20S119

43082264

Region:		41082264-45082264
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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IDA (7615825)
GO:0005737	cytoplasm	Cellular Component	IDA (14563941)
GO:0003700	transcription factor activity	Molecular Function	IDA (7615825)
GO:0008270	zinc ion binding	Molecular Function	IEA
GO:0042803	protein homodimerization activity	Molecular Function	IDA (12220494)
GO:0043565	sequence-specific DNA binding	Molecular Function	IEA
GO:0046872	metal ion binding	Molecular Function	IEA
GO:0005504	fatty acid binding	Molecular Function	IDA (12220494)
GO:0005496	steroid binding	Molecular Function	IEA
GO:0005102	receptor binding	Molecular Function	IDA (12220494)
GO:0003707	steroid hormone receptor activity	Molecular Function	IEA
GO:0016439	tRNA-pseudouridine synthase activity	Molecular Function	IEA
GO:0030308	negative regulation of cell growth	Biological Process	IMP (18163890)
GO:0019216	regulation of lipid metabolic process	Biological Process	IDA (10551874)
GO:0010552	positive regulation of specific transcription from RNA polymerase II promoter	Biological Process	IMP (17827783)
GO:0008285	negative regulation of cell proliferation	Biological Process	IMP (18163890)
GO:0007596	blood coagulation	Biological Process	IDA (12911579)
GO:0006805	xenobiotic metabolic process	Biological Process	IMP (17827783)
GO:0006591	ornithine metabolic process	Biological Process	IMP (17827783)
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0006350	transcription	Biological Process	IEA
GO:0055088	lipid homeostasis	Biological Process	IMP (17827783)