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

BRD2 Gene

protein-coding   GIFtS: 65
GCID: GC06P032949

Bromodomain Containing 2

(Previous name: bromodomain-containing 2)
  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

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Bromodomain Containing 21 2     FSH2
RING32 3 5     NAT2
Bromodomain-Containing 21 2     RNF32
Really Interesting New Gene 3 Protein2 3     Bromodomain-Containing Protein 22
O27.1.12 3     Female Sterile Homeotic-Related Gene 12
FSRG12 5     KIAA90013
D6S113E2     

External Ids:    HGNC: 11031   Entrez Gene: 60462   Ensembl: ENSG000002042567   OMIM: 6015405   UniProtKB: P254403   
ORGUL members:         
NONCODE14:n405303 n410481 n405302 n410480 n410482      

Export aliases for BRD2 gene to outside databases

Previous GC identifers: GC06P032938 GC06P032707 GC06P032983 GC06P033044 GC06P032678 GC06P032944 GC06P032945


(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 BRD2 Gene:
This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain)
family of proteins. This protein associates with transcription complexes and with acetylated chromatin during
mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The
gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence
comparison suggests that the protein is not involved in the immune response. This gene has been implicated in
juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple
alternatively spliced variants have been described for this gene. (provided by RefSeq, Dec 2010)

GeneCards Summary for BRD2 Gene: 
BRD2 (bromodomain containing 2) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with BRD2 include irregular astigmatism, and pituitary apoplexy, and among its related super-pathways are DNA Damage. GO annotations related to this gene include histone acetyl-lysine binding and chromatin binding. An important paralog of this gene is BRDT.

UniProtKB/Swiss-Prot: BRD2_HUMAN, P25440
Function: May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin
and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of
the CCND1 gene. Plays a role in nucleosome assembly

summary for BRD2 Gene:
Bromodomains (BRDs) are epigenetic readers that selectively recognize acetylated lysine (Kac) residues on
histone protein tails, and are the only known protein modules that target Kac residues. There are
approximately 62 unique human bromodomains, most of which can be classified according to sequence identity
into nine groups.

Gene Wiki entry for BRD2 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_000006.11  NT_007592.15  NT_113891.2  NT_167246.1  NT_167248.1  NT_167249.1  NC_018917.2  NT_167245.1  
NT_167247.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the BRD2 gene promoter:
         TBP   SRY   TFIID   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 3): BRD2 promoter sequence
   Search SABiosciences Chromatin IP Primers for BRD2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BRD2


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

Entrez Gene cytogenetic band: 6p21.3   Ensembl cytogenetic band:  6p21.32   HGNC cytogenetic band: 6p21.3

BRD2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
BRD2 gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P032949:  view genomic region     (about GC identifiers)

Start:
32,936,437 bp from pter      End:
32,949,282 bp from pter
Size:
12,846 bases      Orientation:
plus strand

6 alternative locations:
Chr6+,NT_167246 4,393,664-4,406,503      Chr6+,NT_167247 4,273,302-4,283,842      Chr6+,NT_113891.2 4,380,975-4,393,826     
Chr6+,NT_167245 4,195,782-4,230,624      Chr6+,NT_167248 4,168,581-4,181,419      Chr6+,NT_167249 4,367,205-4,430,060     
ORGUL member locations:
Legend (see complete legend)

ORGUL Member Locations for BRD2

(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: BRD2_HUMAN, P25440 (See protein sequence)
Recommended Name: Bromodomain-containing protein 2  
Size: 801 amino acids; 88061 Da
Subunit: Homodimer. Interacts with E2F1 and with histone H4 acetylated at 'Lys-13'
Subcellular location: Nucleus (Probable). Note=Detected on chromatin and nucleosomes
Sequence caution: Sequence=AAA68890.1; Type=Erroneous initiation;
6/22 PDB 3D structures from and Proteopedia for BRD2 (see all 22):
1X0J (3D)        2DVQ (3D)        2DVR (3D)        2DVS (3D)        2DVV (3D)        2E3K (3D)    
Secondary accessions: A2AAU0 B0S7P0 B1AZT1 O00699 O00700 Q15310 Q5STC9 Q6P3U2 Q969U4
Alternative splicing: 2 isoforms:  P25440-1   P25440-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for BRD2: NX_P25440

Explore proteomics data for BRD2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P25440

  • BRD2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    BRD2 Protein Expression
    REFSEQ proteins (4 alternative transcripts): 
    NP_001106653.1  NP_001186384.1  NP_001186385.1  NP_005095.1  

    ENSEMBL proteins: 
     ENSP00000363958   ENSP00000464077   ENSP00000411195   ENSP00000363964   ENSP00000436322  
     ENSP00000431514   ENSP00000475691   ENSP00000378702   ENSP00000409613   ENSP00000475288  
     ENSP00000433751   ENSP00000378704   ENSP00000409145   ENSP00000413495  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for BRD2 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--

    BRD2 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    IUPHAR Guide to PHARMACOLOGY protein family classification: bromodomain containing 2 
    Bromodomain kinase (BRD) family

    3 InterPro protein domains:
     IPR018359 Bromodomain_CS
     IPR027353 NET_dom
     IPR001487 Bromodomain

    Graphical View of Domain Structure for InterPro Entry P25440

    ProtoNet protein and cluster: P25440

    1 Blocks protein domain: IPB001487 Bromodomain signature

    UniProtKB/Swiss-Prot: BRD2_HUMAN, P25440
    Domain: One bromodomain is sufficient for a partial interaction with histone H4 acetylated at 'Lys-13'
    Similarity: Contains 2 bromo domains
    Similarity: Contains 1 NET domain


    BRD2 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: BRD2_HUMAN, P25440
    Function: May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin
    and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of
    the CCND1 gene. Plays a role in nucleosome assembly

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IDA18406326
    GO:0005515protein binding IPI--
    GO:0070577histone acetyl-lysine binding IDA18406326
         
    BRD2 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for BRD2:
     Decreased substrate adherent c  Upregulation of Wnt/beta-caten 

         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Brd2):
     adipose tissue  behavior/neurological  cellular  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  immune system  liver/biliary system  mortality/aging 
     nervous system 

    BRD2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for BRD2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for BRD2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for BRD2 
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    SwitchGear 3'UTR luciferase reporter plasmidBRD2 3' UTR sequence
    Inhib. RNA
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    (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 BRD2 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DNA Damage
    Cell Cycle / Checkpoint Control0.32
    2Wnt / Hedgehog / Notch
    Wnt / Hedgehog / Notch
    3Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein
    4Chromatin Regulation / Acetylation
    Chromatin Regulation / Acetylation

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3 Cell Signaling Technology (CST) Pathways for BRD2
        Chromatin Regulation / Acetylation
    Wnt / Hedgehog / Notch
    Cell Cycle / Checkpoint Control

    1 BioSystems Pathway for BRD2
        Regulation of retinoblastoma protein



    BRD2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for BRD2

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    5/571 Interacting proteins for BRD2 (P254402, 3 ENSP000003639584) via UniProtKB, MINT, STRING, and/or I2D (see all 571)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    HIST1H4LP628052, 3, ENSP000003482584MINT-7989539 MINT-7989824 MINT-7989882 MINT-7989846 MINT-7989865 I2D: score=3 STRING: ENSP00000348258
    HIST1H4AP628052, 3MINT-7989539 MINT-7989824 MINT-7989882 MINT-7989846 MINT-7989865 I2D: score=3 
    HIST1H4BP628052, 3MINT-7989539 MINT-7989824 MINT-7989882 MINT-7989846 MINT-7989865 I2D: score=3 
    HIST1H4CP628052, 3MINT-7989539 MINT-7989824 MINT-7989882 MINT-7989846 MINT-7989865 I2D: score=3 
    HIST1H4DP628052, 3MINT-7989539 MINT-7989824 MINT-7989882 MINT-7989846 MINT-7989865 I2D: score=3 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006334nucleosome assembly IMP18406326
    GO:0006351transcription, DNA-dependent IEA--
    GO:0006357regulation of transcription from RNA polymerase II promoter IDA18406326
    GO:0007283spermatogenesis TAS9693039
    GO:0016568chromatin modification IEA--

    BRD2 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

    BRD2 for compounds           About GeneDecksing

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

    Compounds for BRD2 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    PFI 1BET bromodomain inhibitor[1403764-72-6]
    I-BET 151 hydrochlorideBET bromodomain inhibitor[1300031-49-5]
    I-CBP 112Selective CREBBP/EP300 bromodomain inhibitor--
    (+)-JQ1 Potent, selective BET bromodomain inhibitor; cell permeable [1268524-70-4]

    2 Novoseek inferred chemical compound relationships for BRD2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sulfadiazine 58 1 9288889 (1)
    dihydrofolate 44.9 1 10965846 (1)

    Search CenterWatch for drugs/clinical trials and news about BRD2

    (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 BRD2 gene (4 alternative transcripts): 
    NM_001113182.2  NM_001199455.1  NM_001199456.1  NM_005104.3  

    Unigene Cluster for BRD2:

    Bromodomain containing 2
    Hs.75243  [show with all ESTs]
    Unigene Representative Sequence: NM_005104
    18/21 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000374825(uc003ocn.4) ENST00000496118 ENST00000456339 ENST00000580234
    ENST00000584808 ENST00000374831(uc003oco.3 uc003ocq.4) ENST00000581002
    ENST00000495733(uc010jug.1) ENST00000482914(uc003ocp.4) ENST00000607833
    ENST00000395287 ENST00000449025(uc021ywf.1) ENST00000464592 ENST00000606059
    ENST00000481259 ENST00000463639 ENST00000469132 ENST00000482838
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    Additional mRNA sequence: 

    AK056504.1 AK309797.1 AL832722.1 BC000477.2 BC001885.1 BC007715.2 BC063840.1 BX647233.1 
    BX648109.1 D42040.1 M80613.1 NR_037625.1 X62083.1 

    24/49 DOTS entries (see all 49):

    DT.454148  DT.95370594  DT.100059484  DT.100059487  DT.95370733  DT.95084310  DT.95326043  DT.100868168 
    DT.95323729  DT.91740239  DT.86848798  DT.101987490  DT.91769504  DT.91724106  DT.121352652  DT.95370608 
    DT.100858555  DT.100876074  DT.100868170  DT.121352622  DT.121352491  DT.121352550  DT.121352563  DT.91924655 

    24/889 AceView cDNA sequences (see all 889):

    BQ212470 BU173792 AL711066 BX956802 AW517277 BC007715 BU615921 BP373548 
    BE791464 BX951281 BF918133 AA470100 AI147920 AI636531 AI763359 AA310650 
    AW130899 R46360 BE206294 AU130987 AI417742 BU552938 BQ707914 BC000477 

    GeneLoc Exon Structure


    (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

    BRD2 expression in normal human tissues (normalized intensities)      BRD2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGAGGGAAG
    BRD2 Expression
    About this image


    BRD2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/2 selected tissues (see all 2) fully expand
     
     Thymus (Hematopoietic System)
             Double Negative 2 Thymocytes Thymus
     
     Blood (Cardiovascular System)
             Double Negative 2 Thymocytes Thymus

    See BRD2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for BRD2

    SOURCE GeneReport for Unigene cluster: Hs.75243
        SABiosciences Expression via Pathway-Focused PCR Arrays including BRD2: 
              TGFB Signaling Targets in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BRD2

    (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 eukaryotes.

    Orthologs for BRD2 gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Brd21 , 5 bromodomain containing 21, 5 89.1(n)1
    96.74(a)1
      17 (17.98 cM)5
    143121  NM_001204973.11  NP_001191902.11 
     341120235 
    chicken
    (Gallus gallus)
    Aves BRD21 bromodomain containing 2 73.56(n)
    84.33(a)
      417049  NM_001030674.1  NP_001025845.1 
    lizard
    (Anolis carolinensis)
    Reptilia BRD26
    Uncharacterized protein
    76(a)
    1 ↔ 1
    GL344099.1(55967-74495)
    African clawed frog
    (Xenopus laevis)
    Amphibia brd2-A-prov2 bromodomain containing 2 77.56(n)    BC043784.1 
    zebrafish
    (Danio rerio)
    Actinopterygii brd2a1 bromodomain-containing 2a 62.13(n)
    66.1(a)
      30445  NM_131200.1  NP_571275.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta fs(1)h3 regulation of transcription from Pol II
    promoter more
    56(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea bet-16
    bet-26
    Protein BET-2, isoform a
    23(a)
    12(a)
    possible ortholog
    possible ortholog
    I(4526378-4534800)
    X(10569119-10575721)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes BDF16
    BDF26
    Protein involved in transcription initiation at TA...
    Protein involved in transcription initiation at TA...
    23(a)
    21(a)
    many ↔ many
    many ↔ many
    XII(919536-921596)
    IV(331024-332940)
    rice
    (Oryza sativa)
    Liliopsida Os.371252 Oryza sativa (japonica cultivar-group) cDNA clone0 more 75.92(n)    NM_188433.1 


    ENSEMBL Gene Tree for BRD2 (if available)
    TreeFam Gene Tree for BRD2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for BRD2 gene
    BRDT2  BRD42  CREBBP2  EP3002  BRD32  
    7 SIMAP similar genes for BRD2 using alignment to 10 protein entries:     BRD2_HUMAN (see all proteins):
    DKFZp313H139    DKFZp686N0336    NF2    BRDT    BRD3    FAM175A
    BRD4

    BRD2 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

    10/643 SNPs in BRD2 are shown (see all 643)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0419124
    A glioblastoma multiforme sample4--see VAR_0419122 P L mis40--------
    VAR_0419044
    A glioblastoma multiforme sample4--see VAR_0419042 G E mis40--------
    VAR_0419094
    A gastric adenocarcinoma sample4--see VAR_0419092 R G mis40--------
    VAR_0419064
    ----see VAR_0419062 A S mis40--------
    VAR_0419054
    ----see VAR_0419052 A G mis40--------
    rs1389575501,2
    C--32681400(+) GCGTGG/TGGGGG 1 -- us2k10--------
    rs2067851,2
    C,F,A,H--32934441(+) ttgagG/Acacta 1 -- us2k122Minor allele frequency- A:0.36NS EA WA NA CSA 2341
    rs558069371,2
    C--32934659(+) CATTAC/TTCAGG 1 -- us2k10--------
    rs1161333131,2
    C,F--32934670(+) ACAACA/TGAAGA 1 -- us2k11Minor allele frequency- T:0.04WA 118
    rs728658621,2
    C--32934983(+) GAAGTC/TAAGGG 1 -- us2k12Minor allele frequency- T:0.03NA 122

    HapMap Linkage Disequilibrium report for BRD2 (32936437 - 32949282 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for BRD2:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv483081CNV Loss15286789
    nsv527280CNV Loss19592680
    nsv830633CNV Loss17160897
    nsv819221CNV Gain19587683
    dgv1937e1CNV Complex17122850

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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: 601540    OMIM disorders: --

    20/45 diseases for BRD2 (see all 45):    About MalaCards
    irregular astigmatism    pituitary apoplexy    juvenile myoclonic epilepsy    astigmatism
    anovulation    mccune albright syndrome    androgen insensitivity syndrome    hyperprolactinemia
    pseudohermaphroditism    gynecomastia    ovarian hyperstimulation syndrome    hypopituitarism
    gonadal dysgenesis    hypogonadotropism    amenorrhea    craniopharyngioma
    hyperinsulinism    idiopathic generalized epilepsy    klinefelter's syndrome    precocious puberty

    1 disease from the University of Copenhagen DISEASES database for BRD2:
    Idiopathic generalized epilepsy

    BRD2 for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for BRD2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    myoclonic epilepsy juvenile 78.2 3 19953286 (1), 12830434 (1)
    leukemia 24.9 3 10934046 (1), 10965846 (1), 9367677 (1)
    cancer 0 1 10704737 (1)

    Genetic Association Database (GAD): BRD2
    Human Genome Epidemiology (HuGE) Navigator: BRD2 (7 documents)

    Export disorders for BRD2 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 BRD2 gene, integrated from 9 sources (see all 81):
    (articles sorted by number of sources associating them with BRD2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A homologue of the Drosophila female sterile homeotic (fsh) gene in the class II region of the human MHC. (PubMed id 1352711)1, 2, 3, 9 Beck S.... Trowsdale J. (1992)
    2. Phylogeny and structure of the RING3 gene. (PubMed id 8781126)1, 2, 3, 9 Thorpe K.L....Beck S. (1996)
    3. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. (PubMed id 12830434)1, 4, 9 Pal D.K....Greenberg D.A. (2003)
    4. Association of BRD2 polymorphisms with photoparoxysmal response. (PubMed id 16516380)1, 4, 9 Lorenz S....Stephani U. (2006)
    5. BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. (PubMed id 19953286)1, 4, 9 Layouni S....Dogui M. (2010)
    6. Susceptibility locus for non-obstructive azoospermia is localized within the HLA-DR/DQ subregion: primary role of DQB1*0604. (PubMed id 12366783)1, 4, 9 Matsuzaka Y....Inoko H. (2002)
    7. Examination of genetic polymorphisms in newborns for signatures of sex-specific prenatal selection. (PubMed id 20587610)1, 4 Ucisik-Akkaya E....Tevfik Dorak M. (2010)
    8. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (2009)
    9. High-density SNP screening of the major histocompatib ility complex in systemic lupus erythematosus demonstrates strong evidence for independent susceptibility regions. (PubMed id 19851445)1, 4 Barcellos L.F....Criswell L.A. (2009)
    10. The double bromodomain proteins Brd2 and Brd3 couple histone acetylation to transcription. (PubMed id 18406326)1, 2 LeRoy G....Flint S.J. (2008)

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

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (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: 6046 HGNC: 1103 AceView: BRD2 Ensembl:ENSG00000204256 euGenes: HUgn6046
    ECgene: BRD2 H-InvDB: BRD2

    (According to HUGE)
    About This Section
    HUGE: KIAA9001

    (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 BRD2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for BRD2 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 BRD2 gene:
    Search GeneIP for patents involving BRD2

    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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