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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

BARD1 Gene

protein-coding   GIFtS: 67
GCID: GC02M215556

BRCA1 Associated RING Domain 1

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
BRCA1 Associated RING Domain 11 2
BRCA1-Associated RING Domain Gene 12
BRCA1-Associated RING Domain Protein 12
BARD-13
EC 6.3.2.-3

External Ids:    HGNC: 9521   Entrez Gene: 5802   Ensembl: ENSG000001383767   OMIM: 6015935   UniProtKB: Q997283   

Export aliases for BARD1 gene to outside databases

Previous GC identifers: GC02M213755 GC02M214317 GC02M215795 GC02M215418 GC02M215301 GC02M207449


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for BARD1 Gene:
This gene encodes a protein which interacts with the N-terminal region of BRCA1. In addition to its ability to
bind BRCA1 in vivo and in vitro, it shares homology with the 2 most conserved regions of BRCA1: the N-terminal
RING motif and the C-terminal BRCT domain. The RING motif is a cysteine-rich sequence found in a variety of
proteins that regulate cell growth, including the products of tumor suppressor genes and dominant protooncogenes.
This protein also contains 3 tandem ankyrin repeats. The BARD1/BRCA1 interaction is disrupted by tumorigenic
amino acid substitutions in BRCA1, implying that the formation of a stable complex between these proteins may be
an essential aspect of BRCA1 tumor suppression. This protein may be the target of oncogenic mutations in breast
or ovarian cancer. Multiple alternatively spliced transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Sep 2013)

GeneCards Summary for BARD1 Gene: 
BARD1 (BRCA1 associated RING domain 1) is a protein-coding gene. Diseases associated with BARD1 include bard1-related susceptibility to breast cancer, and breast cancer susceptibility, and among its related super-pathways are Cell cycle Transition and termination of DNA replication and Fanconi's Anaemia Pathway. GO annotations related to this gene include RNA binding and protein heterodimerization activity. An important paralog of this gene is ANKRD11.

UniProtKB/Swiss-Prot: BARD1_HUMAN, Q99728
Function: Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of
'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage
repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the
control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is
required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA
processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage

Gene Wiki entry for BARD1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BARD1 gene promoter:
         RP58   Sp1   FOXF2   p53   FOXL1   MEF-2A   POU2F1   POU2F1a   Sox9   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidBARD1 promoter sequence
   Search SABiosciences Chromatin IP Primers for BARD1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BARD1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 2q34-q35   Ensembl cytogenetic band:  2q35   HGNC cytogenetic band: 2q34-q35

BARD1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BARD1 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M215556:  view genomic region     (about GC identifiers)

Start:
215,590,370 bp from pter      End:
215,674,428 bp from pter
Size:
84,059 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: BARD1_HUMAN, Q99728 (See protein sequence)
Recommended Name: BRCA1-associated RING domain protein 1  
Size: 777 amino acids; 86648 Da
Subunit: Homo- and heterodimer. Heterodimer (RING-type zinc finger) with BRCA1. Heterodimer (via ANK repeats and
BRCT domains) with CSTF1/CSTF-50. Component of the BRCA1-A complex, at least composed of the BRCA1, BARD1,
UIMC1/RAP80, FAM175A/Abraxas, BRCC3/BRCC36, BRE/BRCC45 and BABAM1/NBA1. Interacts with UBXN1
Subcellular location: Nucleus. Note=During S phase of the cell cycle, colocalizes with BRCA1 into discrete
subnuclear foci. Can translocate to the cytoplasm. Localizes at sites of DNA damage at double-strand breaks
(DSBs); recruitment to DNA damage sites is mediated by the BRCA1-A complex
Caution: It is uncertain whether Met-1 or Met-26 is the initiator
5 PDB 3D structures from and Proteopedia for BARD1:
1JM7 (3D)        2NTE (3D)        2R1Z (3D)        3C5R (3D)        3FA2 (3D)    
Secondary accessions: O43574 Q53SS5

Explore the universe of human proteins at neXtProt for BARD1: NX_Q99728

Explore proteomics data for BARD1 at MOPED 

Post-translational modifications:

  • UniProtKB: Processed during apoptosis. The homodimer is more susceptible to proteolytic cleavage than the BARD1/BRCA1
    heterodimer
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q99728

  • BARD1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BARD1 Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000456.2  NP_001269472.1  NP_001269474.1  NP_001269477.1  NP_001269478.1  

    ENSEMBL proteins: 
     ENSP00000260947   ENSP00000405020   ENSP00000412186   ENSP00000392245   ENSP00000406752  

    Human Recombinant Protein Products for BARD1: 
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    Cloud-Clone Corp. Proteins for BARD1 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000151ubiquitin ligase complex NAS14976165
    GO:0005634nucleus IMP15632137
    GO:0005737cytoplasm IDA15265711
    GO:0031436BRCA1-BARD1 complex IDA12890688
    GO:0070531BRCA1-A complex IDA17525342

    BARD1 for ontologies           About GeneDecksing



    BARD1 Antibody Products: 
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    Cloud-Clone Corp. CLIAs for BARD1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANKRD: Ankyrin repeat domain containing

    5/6 InterPro protein domains (see all 6):
     IPR017907 Znf_RING_CS
     IPR001841 Znf_RING
     IPR020683 Ankyrin_rpt-contain_dom
     IPR013083 Znf_RING/FYVE/PHD
     IPR001357 BRCT_dom

    Graphical View of Domain Structure for InterPro Entry Q99728

    ProtoNet protein and cluster: Q99728

    3 Blocks protein domains:
    IPB001357 BRCT domain
    IPB001841 Zn-finger
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: BARD1_HUMAN, Q99728
    Similarity: Contains 4 ANK repeats
    Similarity: Contains 2 BRCT domains
    Similarity: Contains 1 RING-type zinc finger


    BARD1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BARD1_HUMAN, Q99728
    Function: Probable E3 ubiquitin-protein ligase. The BRCA1-BARD1 heterodimer specifically mediates the formation of
    'Lys-6'-linked polyubiquitin chains and coordinates a diverse range of cellular pathways such as DNA damage
    repair, ubiquitination and transcriptional regulation to maintain genomic stability. Plays a central role in the
    control of the cell cycle in response to DNA damage. Acts by mediating ubiquitin E3 ligase activity that is
    required for its tumor suppressor function. Also forms a heterodimer with CSTF1/CSTF-50 to modulate mRNA
    processing and RNAP II stability by inhibiting pre-mRNA 3' cleavage

         Genatlas biochemistry entry for BARD1:
    BRCA1 associated RING domain (BARD1) protein,potentially involved in DNA repair and/or transcriptional activation

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003723RNA binding IDA12419249
    GO:0004842ubiquitin-protein ligase activity NAS15905410
    GO:0005515protein binding IPI10026184
    GO:0008270zinc ion binding IEA--
    GO:0019900kinase binding NAS15782130
         
    BARD1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for BARD1:
     Decreased homologous recombina  Decreased viability with cispl  Increased cell number in G2M,   Synthetic lethal with c-Myc af 
     Synthetic lethal with cisplati  Upregulation of Wnt/beta-caten 

         7 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Bard1):
     cellular  embryogenesis  growth/size  mortality/aging  nervous system 
     normal  tumorigenesis 

    BARD1 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BARD1 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BARD1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for BARD1 

    miRNA
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    miRTarBase miRNAs that target BARD1:
    hsa-mir-192 (MIRT004138)

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    SwitchGear 3'UTR luciferase reporter plasmidBARD1 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BARD1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for BARD1 About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell cycle Transition and termination of DNA replacation
    Cell cycle Transition and termination of DNA replication0.95
    Cell cycle Transition and termination of DNA replacation0.95
    2Fanconi Anemia pathway
    Fanconi's Anaemia Pathway0.43
    BARD1 signaling events0.41
    3Prostate Cancer
    Integrated Cancer pathway0.32
    Prostate Cancer0.32
    4DNA damage ATM/ATR regulation of G1/S checkpoint
    DNA damage ATM/ATR regulation of G1/S checkpoint0.98
    5DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage Role of Brca1 and Brca2 in DNA repair1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    3 EMD Millipore Pathways for BARD1
        DNA damage ATM/ATR regulation of G1/S checkpoint
    Cell cycle Transition and termination of DNA replacation
    DNA damage Role of Brca1 and Brca2 in DNA repair

    3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for BARD1
        Fanconi's Anaemia Pathway
    BRCA1 Pathway
    DNA Repair Mechanisms

    3 GeneGo (Thomson Reuters) Pathways for BARD1
        DNA damage Role of Brca1 and Brca2 in DNA repair
    DNA damage ATM/ATR regulation of G1/S checkpoint
    Cell cycle Transition and termination of DNA replication

    4 BioSystems Pathways for BARD1
        Integrated Breast Cancer Pathway
    Prostate Cancer
    BARD1 signaling events
    Integrated Cancer pathway



    UniProtKB/Swiss-Prot: BARD1_HUMAN, Q99728
    Pathway: Protein modification; protein ubiquitination


    BARD1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BARD1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/149 Interacting proteins for BARD1 (Q997281, 2, 3 ENSP000002609474) via UniProtKB, MINT, STRING, and/or I2D (see all 149)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    KAT7O952511, 2, 3, ENSP000002590214EBI-473181,EBI-473199 MINT-3981578 MINT-3978671 I2D: score=6 STRING: ENSP00000259021
    CHD3Q128731, 2, 3, ENSP000003697164EBI-473181,EBI-523590 MINT-3978688 MINT-3981706 I2D: score=3 STRING: ENSP00000369716
    BRCA1P383981, 2, 3, ENSP000003502834EBI-473181,EBI-349905 MINT-25055 I2D: score=7 STRING: ENSP00000350283
    PARNO954532, 3, ENSP000003879114MINT-7898660 MINT-7898609 MINT-7898631 MINT-7898677 MINT-7898584 MINT-7898597 I2D: score=1 STRING: ENSP00000387911
    IKBKAPO951632, 3, ENSP000003637794MINT-3978705 I2D: score=5 STRING: ENSP00000363779
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001894tissue homeostasis TAS15782130
    GO:0006281DNA repair IEA--
    GO:0006974response to DNA damage stimulus NAS15905410
    GO:0007050cell cycle arrest NAS15632137
    GO:0016567protein ubiquitination NAS15905410

    BARD1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    BARD1 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for BARD1

    1 Novoseek inferred chemical compound relationship for BARD1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 23.1 17 20060929 (4), 17275994 (3), 18514188 (1)

    Search CenterWatch for drugs/clinical trials and news about BARD1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for BARD1 gene (5 alternative transcripts): 
    NM_000465.3  NM_001282543.1  NM_001282545.1  NM_001282548.1  NM_001282549.1  

    Unigene Cluster for BARD1:

    BRCA1 associated RING domain 1
    Hs.591642  [show with all ESTs]
    Unigene Representative Sequence: NM_000465
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000260947(uc002veu.2 uc021vwc.1 uc021vwd.1 uc010zjm.1 uc021vwe.1 uc021vwf.1 uc021vwg.1 uc021vwh.1 uc021vwi.1 uc021vwj.1)
    ENST00000432456 ENST00000471590 ENST00000455743 ENST00000421162 ENST00000465841
    ENST00000471787 ENST00000479904 ENST00000449967
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    Additional mRNA sequence: 

    AK223409.1 AK301843.1 AK310759.1 AK314260.1 BC126426.1 BC126428.1 JF790280.1 JF790281.1 
    JF790282.1 JF790283.1 JF790284.1 JF790285.1 JF790286.1 JF790287.1 U76638.1 

    5 DOTS entries:

    DT.414602  DT.97797919  DT.91748490  DT.91864619  DT.100743522 

    24/131 AceView cDNA sequences (see all 131):

    AI472140 AA558464 AA397769 BU728046 BE887380 AA678295 BU677525 AA913600 
    AA331247 BQ786789 BM968800 CR621362 BU853748 AA214493 AI301469 BX098964 
    AA248220 BQ643252 CA442865 BX112694 BM803741 AI381555 CB121318 AI087856 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for BARD1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b
    SP1:                          -     -     -     -     -     -                             -                     
    SP2:                                                                                      -                     
    SP3:                          -                                                                                 
    SP4:                                                                                                            
    SP5:                                                                                                            


    ECgene alternative splicing isoforms for BARD1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    BARD1 expression in normal human tissues (normalized intensities)      BARD1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CGAGACCCGA
    BARD1 Expression
    About this image


    BARD1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Ovary (Reproductive System)    fully expand to see all 2 entries
             Secondary Oocyte Antral Follicle
             oocyte   
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Peripheral Nervous System (Nervous System)
             PERIPHERAL NERVOUS SYSTEM   
     
     Endothelium (Cardiovascular System)
             blood vessel   
     
     Gonad
             Secondary Oocyte Antral Follicle

    See BARD1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BARD1

    SOURCE GeneReport for Unigene cluster: Hs.591642
        SABiosciences Expression via Pathway-Focused PCR Arrays including BARD1: 
              Ubiquitination (Ubiquitylation) Pathway in human mouse rat
              DNA Damage Signaling Pathway in human mouse rat
              Ubiquitin Ligases in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for BARD1 gene from 6/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Bard11 , 5 BRCA1 associated RING domain 11, 5 78.9(n)1
    71.18(a)1
      1 (35.67 cM)5
    120211  NM_007525.31  NP_031551.11 
     710274985 
    chicken
    (Gallus gallus)
    Aves BARD11 BRCA1 associated RING domain 1 61.98(n)
    55.33(a)
      424010  NM_001031246.1  NP_001026417.1 
    lizard
    (Anolis carolinensis)
    Reptilia BARD16
    Uncharacterized protein
    47(a)
    1 ↔ 1
    1(116419658-116492139)
    African clawed frog
    (Xenopus laevis)
    Amphibia BARD12 BRCA1-associated RING domain protein 74.47(n)    AF416869.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC1001479131 novel protein similar to vertebrate BRCA1 associated more 55.41(n)
    53.38(a)
      100147913  XM_001921064.2  XP_001921099.2 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes HOS46
    Subunit of the Set3 complex, which is a meiotic-sp...
    8(a)
    1 → many
    IX(151595-154846)


    ENSEMBL Gene Tree for BARD1 (if available)
    TreeFam Gene Tree for BARD1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BARD1 gene
    ANKRD112  BCOR2  TONSL2  ANKRD322  ANKRD122  ANKRD312  BCORL12  
    7 SIMAP similar genes for BARD1 using alignment to 14 protein entries:     BARD1_HUMAN (see all proteins):
    ANKRD12    DKFZp761E1322    MTPN    ANKRD44    PPP1R12A    GABPB1
    IkBa

    BARD1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2014 SNPs in BARD1 are shown (see all 2014)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0103584
    An ovarian clear cell adenocarcinoma4--see VAR_0103582 Q H mis40--------
    VAR_0103604
    A breast cancer sample4--see VAR_0103602 V L mis40--------
    rs1421551011,2,4
    C,FAn uterine cancer sample4 --214980963(+) ACCAGC/TTCGAA 2 N S mis11Minor allele frequency- T:0.00NA 4550
    rs289975761,2,4
    C,Fother1215004735(-) CCACTA/C/GCTCAG 2 S C mis1 ese36EU NS NA 6245
    VAR_0383724
    ----see VAR_0383722 C R mis40--------
    VAR_0103554
    ----see VAR_0103552 K E mis40--------
    rs2004788801,2
    --207460967(+) ACCGA-/ACACAGT 1 -- int10--------
    rs106644021,2
    C--207515417(+) ATTAA-/A/C/
    TT
    /T/TTC
    TTTTT
    3 -- int1 cds11NA 2
    rs346373811,2
    C--207515418(+) TTAAT-/CTT/
     
    /TC/TTC
    TTTTT
    3 -- int1 cds10--------
    rs563061641,2
    C--207515419(+) TAATT-/C/CTT 
            
    TTTTT
    2 -- int1 cds10--------

    HapMap Linkage Disequilibrium report for BARD1 (215590370 - 215674428 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for BARD1:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2658008CNV Deletion23128226
    esv2661707CNV Deletion23128226
    nsv821897CNV Loss20364138
    nsv875832CNV Gain21882294


    Human Gene Mutation Database (HGMD): BARD1
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 601593   
    OMIM disorders: 114480  
    20 diseases for BARD1:    About MalaCards
    bard1-related susceptibility to breast cancer    breast cancer susceptibility    ovarian cancer    neuroblastoma, susceptibility
    ovarian epithelial cancer    familial breast cancer    sporadic breast cancer    breast cancer
    esophageal adenocarcinoma    myelodysplastic syndromes    cervical cancer    neuroblastoma
    cervicitis    lung cancer    colon cancer    sarcoma
    schizophrenia    esophagitis    adenocarcinoma    leukemia

    2 diseases from the University of Copenhagen DISEASES database for BARD1:
    Ovarian cancer     Breast cancer

    BARD1 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for BARD1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ovarian cancer 67 34 16152612 (5), 18089818 (4), 11807980 (3), 19087519 (2) (see all 16)
    germ-line mutation 61.7 3 16108063 (1), 17497650 (1)
    breast cancer 60.3 52 17972171 (5), 14550946 (5), 20077502 (4), 16768547 (3) (see all 23)
    tumors 45 50 17848578 (3), 16152612 (2), 18089818 (2), 11779501 (2) (see all 30)
    cancer 19.5 20 18089818 (5), 16152612 (2), 15265711 (1), 17848578 (1) (see all 9)
    carcinoma 3.61 7 11156388 (2), 16152612 (1), 18089818 (1), 17848578 (1)

    Genetic Association Database (GAD): BARD1
    Human Genome Epidemiology (HuGE) Navigator: BARD1 (29 documents)

    Export disorders for BARD1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for BARD1 gene, integrated from 9 sources (see all 206):
    (articles sorted by number of sources associating them with BARD1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the BRCA1-associated RING domain (BARD1) gene in primary breast, ovarian and uterine cancers. (PubMed id 9425226)1, 2, 3, 4 Thai T.H.... Bowcock A.M. (1998)
    2. Identification of a RING protein that can interact in vivo with the BRCA1 gene product. (PubMed id 8944023)1, 2, 3 Wu L.C.... Baer R. (1996)
    3. Cancer predisposing missense and protein truncating B ARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. (PubMed id 20077502)1, 4, 9 De Brakeleer S....Teugels E. (2010)
    4. Mutational analysis of BARD1 in familial breast cancer patients in Japan. (PubMed id 14550946)1, 4, 9 Ishitobi M....Noguchi S. (2003)
    5. BARD1 variants are not associated with breast cancer risk in Australian familial breast cancer. (PubMed id 17972171)1, 4, 9 Gorringe K.L....Campbell I.G. (2007)
    6. Mapping the functional domains of BRCA1. Interaction of the ring finger domains of BRCA1 and BARD1. (PubMed id 10026184)1, 2, 9 Meza J.E.... Klevit R.E. (1999)
    7. The BARD1 C-terminal domain structure and interactions with polyadenylation factor CstF-50. (PubMed id 18842000)1, 2, 9 Edwards R.A....Glover J.N. (2008)
    8. The BARD1 Cys557Ser variant and breast cancer risk in Iceland. (PubMed id 16768547)1, 4, 9 Stacey S.N....Stefansson K. (2006)
    9. BRCA1 : BARD1 induces the formation of conjugated ubiquitin structures, dependent on K6 of ubiquitin, in cells during DNA replication and repair. (PubMed id 14976165)1, 2, 9 Morris J.R. and Solomon E. (2004)
    10. Genetic sequence variations of BRCA1-interacting genes AURKA, BAP1, BARD1 and DHX9 in French Canadian Families with high risk of breast cancer. (PubMed id 19197335)1, 4, 9 GuAcnard F....Durocher F. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Free Text  

      Query String
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 580 HGNC: 952 AceView: BARD1 Ensembl:ENSG00000138376 euGenes: HUgn580
    ECgene: BARD1 H-InvDB: BARD1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for BARD1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BARD1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for BARD1 gene:
    Search GeneIP for patents involving BARD1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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