ERGR - Ethanol-Related Gene Resource

Gene Information

Gene ID:

Symbol:

PAX6

Full Name:

paired box 6

Alias:

AN|AN2|D11S812E|MGC17209|MGDA|WAGR

Organism:

Homo sapiens (Human)

Chromosome:

Genetic Location:

11p13

Physical Location:

31767033-31789454 on NC_000011.8, complement

Gene Type:

protein-coding

Orthologs:

This gene has Mouse: 18508 ortholog(s) in other dataset(s).

Gene in Ethanol Study Datasets

Gene Information

Original ID1:

PAX6

Dataset Information

Name:		Literature Search
Method:		Literature search
Summary:		We search all human protein coding gene names and the keywords Alcohol or Ethanol or Alcoholism in the title or abstract of all PUBMED publications. For those gene name less than 3 characters or search result hits more than 100, we use the full name to search again and manually check the results to reduce false positive.

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

Gene Ontology (GO) Annotation

GO ID	GO Term	Category	Evidence (PubMed)
GO:0005634	nucleus	Cellular Component	IEA
GO:0043565	sequence-specific DNA binding	Molecular Function	IEA
GO:0003677	DNA binding	Molecular Function	IEA
GO:0003700	transcription factor activity	Molecular Function	TAS (10441571\|10747901)
GO:0005515	protein binding	Molecular Function	IPI (16098226)
GO:0030154	cell differentiation	Biological Process	IEA
GO:0009887	organ morphogenesis	Biological Process	TAS (10441571)
GO:0007601	visual perception	Biological Process	TAS (10441571)
GO:0007417	central nervous system development	Biological Process	TAS (10747901)
GO:0007275	multicellular organismal development	Biological Process	IEA
GO:0006355	regulation of transcription, DNA-dependent	Biological Process	IEA
GO:0001654	eye development	Biological Process	TAS (10747901)