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Gene Information
Gene ID:580
Symbol:BARD1
Full Name:BRCA1 associated RING domain 1
Organism:Homo sapiens (Human)
Chromosome:2
Genetic Location:2q34-q35
Physical Location:215301506-215382672 on NC_000002.10, complement
Gene Type:protein-coding
Orthologs:This gene has no orthologs in other dataset(s).
Gene in Ethanol Study Datasets
Linkage Dataset
MarkerLODP valueLocation (bp)
D2S117  195326948
Region:195326948-216757195
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
mRNAProteinReference assembly Genomic
NM_000465.2NP_000456.2NC_000002.10 range: 215301506..215382672, complement
Gene Ontology (GO) Annotation
GO IDGO TermCategoryEvidence (PubMed)
GO:0000151ubiquitin ligase complexCellular ComponentNAS (14976165)
GO:0005737cytoplasmCellular ComponentIDA (15265711)
GO:0005634nucleusCellular ComponentIMP (15632137)
GO:0005634nucleusCellular ComponentIDA (15265711)
GO:0005622intracellularCellular ComponentIEA
GO:0031436BRCA1-BARD1 complexCellular ComponentIDA (15265711)
GO:0019900kinase bindingMolecular FunctionNAS (15782130)
GO:0042803protein homodimerization activityMolecular FunctionIPI (15265711)
GO:0046872metal ion bindingMolecular FunctionIEA
GO:0046982protein heterodimerization activityMolecular FunctionIPI (15265711)
GO:0008270zinc ion bindingMolecular FunctionIEA
GO:0003723RNA bindingMolecular FunctionIDA (12419249)
GO:0005515protein bindingMolecular FunctionIPI (8944023|10026184|10477523|15184379|15265711|15782130)
GO:0004842ubiquitin-protein ligase activityMolecular FunctionNAS (15905410)
GO:0001894tissue homeostasisBiological ProcessTAS (15782130)
GO:0046826negative regulation of protein export from nucleusBiological ProcessIDA (15265711)
GO:0045732positive regulation of protein catabolic processBiological ProcessNAS (15905410)
GO:0043066negative regulation of apoptosisBiological ProcessIMP (15265711)
GO:0043065positive regulation of apoptosisBiological ProcessIMP (15782130)
GO:0007050cell cycle arrestBiological ProcessNAS (15632137)
GO:0042325regulation of phosphorylationBiological ProcessIMP (15782130)
GO:0031441negative regulation of mRNA 3'-end processingBiological ProcessNAS (15905410)
GO:0006974response to DNA damage stimulusBiological ProcessNAS (15905410)
GO:0016567protein ubiquitinationBiological ProcessNAS (15905410)
Other Database Cross Links
NCBI Entrez Gene:580
HGNC:952
Ensembl:ENSG00000138376
MIM:601593
HPRD:03354
HuGE Navigator:580
dbSNP:BARD1
GeneCard:BARD1
AceView:BARD1