Human Gene BRD2 (uc011hfq.2) Description and Page Index
  Description: Homo sapiens bromodomain containing 2 (BRD2), transcript variant 1, mRNA.
RefSeq Summary (NM_005104): 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].
Transcript (Including UTRs)
   Position: chr6_mann_hap4:4,393,664-4,406,503 Size: 12,840 Total Exon Count: 13 Strand: +
Coding Region
   Position: chr6_mann_hap4:4,397,903-4,405,716 Size: 7,814 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsGenetic AssociationsCTDMicroarray
RNA StructureProtein StructureOther SpeciesmRNA DescriptionsOther NamesModel Information
Methods
Data last updated: 2013-06-14

+  Sequence and Links to Tools and Databases
  Press "+" in the title bar above to open this section.

-  Comments and Description Text from UniProtKB
  ID: BRD2_HUMAN
DESCRIPTION: RecName: Full=Bromodomain-containing protein 2; AltName: Full=O27.1.1; AltName: Full=Really interesting new gene 3 protein;
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.
SUBUNIT: Homodimer. Interacts with E2F1 and with histone H4 acetylated at 'Lys-13'.
INTERACTION: P62805:HIST2H4B; NbExp=5; IntAct=EBI-2874802, EBI-302023;
SUBCELLULAR LOCATION: Nucleus (Probable). Note=Detected on chromatin and nucleosomes.
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.
SEQUENCE CAUTION: Sequence=AAA68890.1; Type=Erroneous initiation;

-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database: BRD2
CDC HuGE Published Literature: BRD2
Positive Disease Associations: Asthma , Heart Rate , photoparoxysmal response , Triglycerides
Related Studies:
  1. Asthma
    Tomomitsu Hirota et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population., Nature genetics. [PubMed 21804548]
  2. Heart Rate
    , , . [PubMed 0]
  3. photoparoxysmal response
    Lorenz, S. et al. 2006, Association of BRD2 polymorphisms with photoparoxysmal response, Neurosci Lett 2006. [PubMed 16516380]
           more ... click here to view the complete list

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  Microarray Expression Data
 
Expression ratio colors:

GNF Expression Atlas 2 Data from U133A and GNF1H Chips

      
      
      
     
    
     
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GNF Expression Atlas 1 Human Data on Affy U95 Chips

      
    
     
      
    
    
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-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -801.001701-0.471 Picture PostScript Text
3' UTR -279.18787-0.355 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS
IPR027353 - NET_dom

Pfam Domains:
PF00439 - Bromodomain

SCOP Domains:
47370 - Bromodomain

Protein Data Bank (PDB) 3-D Structure

1X0J
- X-ray Chimera LS-SNP

2DVQ
- X-ray Chimera LS-SNP

2DVR
- X-ray Chimera LS-SNP
To conserve bandwidth, only the images from the first 3 structures are shown.
2DVS - X-ray Chimera LS-SNP 2DVV - X-ray Chimera LS-SNP 2E3K - X-ray Chimera
2G4A - NMR Chimera 2YDW - X-ray Chimera 2YEK - X-ray Chimera
3AQA - X-ray Chimera 3ONI - X-ray Chimera 4A9E - X-ray Chimera
4A9F - X-ray Chimera 4A9H - X-ray Chimera 4A9I - X-ray Chimera
4A9J - X-ray Chimera 4A9M - X-ray Chimera 4A9N - X-ray Chimera
4A9O - X-ray Chimera 4AKN - X-ray Chimera 4ALG - X-ray Chimera
4ALH - X-ray Chimera
Chimera help

ModBase Predicted Comparative 3D Structure on P25440
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
Jackson LabRGD    
Protein Sequence     
Alignment     

-  Descriptions from all associated GenBank mRNAs
  AY152720 - Homo sapiens bromodomain containing 2 (BRD2) mRNA, 5' untranslated region.
D42040 - Homo sapiens KIAA9001 mRNA, complete cds.
AK309797 - Homo sapiens cDNA, FLJ99838.
BX648109 - Homo sapiens mRNA; cDNA DKFZp686E1432 (from clone DKFZp686E1432).
AK056504 - Homo sapiens cDNA FLJ31942 fis, clone NT2RP7006717, highly similar to Mus musculus Ring3 mRNA.
AL832722 - Homo sapiens mRNA; cDNA DKFZp313H139 (from clone DKFZp313H139).
M80613 - Human homolog of Drosophila female sterile homeotic mRNA, complete cds.
X62083 - H.sapiens mRNA for Drosophila female sterile homeotic (FSH) homologue.
BC007715 - Homo sapiens bromodomain containing 2, mRNA (cDNA clone IMAGE:4302993), partial cds.
BC001885 - Homo sapiens bromodomain containing 2, mRNA (cDNA clone IMAGE:3544244), with apparent retained intron.
BC000477 - Homo sapiens bromodomain containing 2, mRNA (cDNA clone IMAGE:2961647).
BC063840 - Homo sapiens bromodomain containing 2, mRNA (cDNA clone MGC:74927 IMAGE:6181728), complete cds.
AB384868 - Synthetic construct DNA, clone: pF1KB3863, Homo sapiens BRD2 gene for bromodomain-containing protein 2, complete cds, without stop codon, in Flexi system.
S78771 - NAT=CpG island-associated gene [human, mRNA, 1741 nt].
BX647233 - Homo sapiens mRNA; cDNA DKFZp686N0336 (from clone DKFZp686N0336).
AK024312 - Homo sapiens cDNA FLJ14250 fis, clone OVARC1001244, highly similar to H.sapiens mRNA for Drosophila female sterile homeotic (FSH) homologue.

-  Other Names for This Gene
  Alternate Gene Symbols: A2AAU0, B0S7P0, B1AZT1, BRD2_HUMAN, KIAA9001, NM_005104, NP_001186385, O00699, O00700, P25440, Q15310, Q5STC9, Q6P3U2, Q969U4, RING3
UCSC ID: uc011hfq.2
RefSeq Accession: NM_005104
Protein: P25440 (aka BRD2_HUMAN