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    BRD2 bromodomain containing 2 [ Homo sapiens ]

    Gene ID: 6046, updated on 11-May-2012
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    Summary

    Official Symbol
    BRD2provided by HGNC
    Official Full Name
    bromodomain containing 2provided by HGNC
    Primary source
    HGNC:1103
    Locus tag
    DADB-17J1.3
    See related
    Ensembl:ENSG00000204256; HPRD:03326; MIM:601540; Vega:OTTHUMG00000031241
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FSH; NAT; RNF3; FSRG1; RING3; D6S113E; FLJ31942; KIAA9001; DKFZp686N0336
    Summary
    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]
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    Genomic context

    Location :
    6p21.3
    Sequence :
    Chromosome: 6; NC_000006.11 (32936437..32949282)
    See BRD2 in Epigenomics, MapViewer

    Chromosome 6 - NC_000006.11Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DM beta Neighboring gene major histocompatibility complex, class II, DM alpha Neighboring gene major histocompatibility complex, class II, DO alpha Neighboring gene major histocompatibility complex, class II, DP alpha 1 Neighboring gene major histocompatibility complex, class II, DP beta 1 Neighboring gene ribosomal protein L32 pseudogene 1

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Expression of BET genes in testis of men with different spermatogenic impairments. Barda S, et al. Fertil Steril, 2012 Jan. PMID 22035730.
    2. The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels. Shang E, et al. J Cell Biochem, 2011 Oct. PMID 21608014.
    3. The Brd4 extraterminal domain confers transcription activation independent of pTEFb by recruiting multiple proteins, including NSD3. Rahman S, et al. Mol Cell Biol, 2011 Jul. PMID 21555454.
    4. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. Danielsen JM, et al. Mol Cell Proteomics, 2011 Mar. PMID 21139048.
    5. The protein network surrounding the human telomere repeat binding factors TRF1, TRF2, and POT1. Giannone RJ, et al. PLoS One, 2010 Aug 25. PMID 20811636.

    See all (52) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.
      Title: The bromodomain-containing gene BRD2 is regulated at transcription, splicing, and translation levels.
    2. The BRDT gene was not expressed in testicular tissue from patients with Sertoli cells only, whereas the other three genes of the BET family retained expression in all the sperm pathologies.
      Title: Expression of BET genes in testis of men with different spermatogenic impairments.
    3. the crystal structure of the second bromodomain of BRD2 (BRD2-BD2) in complex with the di-acetylated histone H4 tail (H4K5ac/K12ac) was shown.
      Title: Structural implications for K5/K12-di-acetylated histone H4 recognition by the second bromodomain of BRD2.
    4. Data report the crystal structures of the N-terminal bromodomain of human BRD2 (BRD2-BD1; residues 74-194) in complex with each of three different Lys-12-acetylated histone H4 peptides.
      Title: Structural basis for acetylated histone H4 recognition by the human BRD2 bromodomain.
    5. Studies indicate that KSHV LANA interacts with Brd2 and Brd4.
      Title: WHAT do viruses BET on?
    6. no difference was observed in the allele and genotype frequencies of BRD2 between juvenile myoclonic epilepsy (JME) and controls
      Title: BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.
    7. The BRD2 gene is located within the human class II major histocompatibility complex at Chromosome 6p21.3, but appears to have no role in antigen processing, and is likely involved in signal transduction and transcription.
      Title: Genetic control of MHC class II expression.
    8. Brd2 is a novel protein kinase that plays a role in cell cycle-responsive transcription, recruiting E2F1, TATA Box Binding Protein and histone acetylase activity to E2F-responsive promoters in response to mitogenic stimuli.
      Title: Brd2 is a TBP-associated protein and recruits TBP into E2F-1 transcriptional complex in response to serum stimulation.
    9. Brd2 associates with the transcription factor E2F, the Mediator components CDK8 and TRAP220, RNA polymerase II on chromatin; and associates with acetylated histone H4 through its bromodomains.
      Title: Crystal structure of the human BRD2 bromodomain: insights into dimerization and recognition of acetylated histone H4.
    10. The second bromodomain of Brd2 binds histone H4 acetyl-lysine K12.
      Title: Solution structure of the second bromodomain of Brd2 and its specific interaction with acetylated histone tails.
    Submit: New GeneRIF Correction See all (28)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    NC_000006.9 NP_005047.1 KDM5A    BIND  PubMed RBP2 interacts with BRD2 promoter. 
    NC_000006.9 NP_000312.1 RB1    BIND  PubMed pRB interacts with BRD2 promoter. 
    NC_000006.9 NP_005602.2 RBL2    BIND  PubMed p130 interacts with BRD2 promoter. 
    P25440 Q01094 E2F1    HPRD  PubMed  
    P25440 Q14209 E2F2    HPRD  PubMed  
    P25440 P62805 HIST2H4A    HPRD  PubMed  
    P25440 Q8N257 HIST3H2BB    HPRD  PubMed  
    BioGRID:111973 BioGRID:111973 BRD2    BioGRID  PubMed Affinity Capture-Western; Co-crystal Structure 
    BioGRID:111973 BioGRID:117036 BRD4    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111973 BioGRID:108201 E2F1    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:111973 BioGRID:108202 E2F2    BioGRID  PubMed Affinity Capture-Western; Co-purification 
    BioGRID:111973 BioGRID:113955 HIST1H4A    BioGRID  PubMed Affinity Capture-Western; FRET; Protein-peptide; Reconstituted Complex 
    BioGRID:111973 BioGRID:113945 HIST2H2BE    BioGRID  PubMed FRET; Protein-peptide 
    BioGRID:111973 BioGRID:112771 TBP    BioGRID  PubMed Affinity Capture-Western; Reconstituted Complex 
    BioGRID:111973 BioGRID:112873 TERF2    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111973 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    BioGRID:111973 BioGRID:1205541 tat    BioGRID  PubMed Reconstituted Complex 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Process Evidence Code Pubs
    spermatogenesis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    nucleus IEA
    Inferred from Electronic Annotation
    more info
    		  
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    General protein information

    Preferred Names
    bromodomain-containing protein 2
    Names
    bromodomain-containing protein 2
    O27.1.1
    bromodomain-containing 2
    really interesting new gene 3 protein
    female sterile homeotic-related gene 1
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001113182.2 → NP_001106653.1  bromodomain-containing protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform (1).
      Source sequence(s)
      AK056504, AL645941, AL832722, BX648109, D42040, DC379337
      Consensus CDS
      CCDS4762.1
      UniProtKB/Swiss-Prot
      P25440
      UniProtKB/TrEMBL
      Q658Y7
      Related
      ENSP00000363964, OTTHUMP00000178757, ENST00000374831, OTTHUMT00000276544
      Conserved Domains (2) summary
      cd05497
      Location:74 – 180
      Blast Score: 605
      Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...
      cd05498
      Location:349 – 450
      Blast Score: 541
      Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

    2. NM_001199455.1 → NP_001186384.1  bromodomain-containing protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) has an additional in-frame exon in the CDS compared to variant 1. The resulting isoform (2) is longer than isoform 1.
      Source sequence(s)
      AL645941, AL832722, BC063840, CN398334, DC379337
      Consensus CDS
      CCDS56420.1
      UniProtKB/TrEMBL
      A2AAU0
      UniProtKB/Swiss-Prot
      P25440
      UniProtKB/TrEMBL
      Q658Y7
      Related
      ENSP00000378702, OTTHUMP00000178758, ENST00000395287, OTTHUMT00000276545
      Conserved Domains (3) summary
      cd05497
      Location:74 – 180
      Blast Score: 606
      Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...
      cd05498
      Location:349 – 450
      Blast Score: 543
      Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...
      pfam13900
      Location:616 – 651
      Blast Score: 179
      GVQW; Putative binding domain

    3. NM_001199456.1 → NP_001186385.1  bromodomain-containing protein 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) has an alternate 5' exon, resulting in a downstream AUG start codon compared to variant 1. The resulting isoform (3) is shorter at the N-terminus, as compared to isoform 1.
      Source sequence(s)
      AL645941, BX647233, D42040
      Consensus CDS
      CCDS56421.1
      UniProtKB/Swiss-Prot
      P25440
      UniProtKB/TrEMBL
      Q63HQ9
      Related
      ENSP00000409145, ENST00000449085
      Conserved Domains (2) summary
      cd05497
      Location:27 – 133
      Blast Score: 607
      Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...
      cd05498
      Location:302 – 403
      Blast Score: 541
      Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

    4. NM_005104.3 → NP_005095.1  bromodomain-containing protein 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) and variant 2 encode the same predominant isoform (1).
      Source sequence(s)
      AI983495, AL832722, BP271262, D42040, DA127395, DC379337, H11588
      Consensus CDS
      CCDS4762.1
      UniProtKB/Swiss-Prot
      P25440
      UniProtKB/TrEMBL
      Q658Y7
      Related
      ENSP00000363958, OTTHUMP00000029350, ENST00000374825, OTTHUMT00000076503
      Conserved Domains (2) summary
      cd05497
      Location:74 – 180
      Blast Score: 605
      Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...
      cd05498
      Location:349 – 450
      Blast Score: 541
      Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

    RNA

    1. NR_037625.1 RNA Sequence

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon and an additional internal exon compared to variant 1. The transcript is a nonsense-mediated mRNA decay candidate, and may not encode a functional protein.
      Source sequence(s)
      AL645941, AL832722, BX648109, D42040, DC379337

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000006.11 Reference GRCh37.p5 Primary Assembly

      Range
      32936437..32949282
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.2 Reference GRCh37.p5 ALT_REF_LOCI_2

      Range
      4380975..4393826
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.1 Reference GRCh37.p5 ALT_REF_LOCI_3

      Range
      4195782..4230624
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.1 Reference GRCh37.p5 ALT_REF_LOCI_4

      Range
      4393664..4406503
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.1 Reference GRCh37.p5 ALT_REF_LOCI_5

      Range
      4273302..4283842
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.1 Reference GRCh37.p5 ALT_REF_LOCI_6

      Range
      4168581..4181419
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh37.p5 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.1 Reference GRCh37.p5 ALT_REF_LOCI_7

      Range
      4367205..4430060
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000138.1 Alternate HuRef

      Range
      32678978..32691818
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AF107699.1 AAD24963.1
    genomic AL645941.11 (46095..58941) None
    genomic AL662845.5 (46109..58960) None
    genomic AL805913.4 CAI18548.1
    genomic AL935042.6 CAI18689.1
    genomic BX005422.5 CAM26115.1
      CAM26116.1
    genomic BX664702.5 (16865..20224) None
    genomic BX908719.9 (27044..36229) None
    genomic CH471081.1 EAX03662.1
      EAX03663.1
      EAX03664.1
      EAX03665.1
      EAX03666.1
    genomic CR759798.3 (107356..117090) None
    genomic CR759829.6 CAP58468.1
      CAP58469.1
    genomic CR936909.2 (2000..5653) None
    genomic X96670.1 CAA65450.1
    genomic Z84497.1 None
    genomic Z96104.1 CAC69989.1
    mRNA AI983495.1 None
    mRNA AK056504.1 None
    mRNA AL832722.1 CAH56208.1
    mRNA BC000477.2 None
    mRNA BC001885.1 None
    mRNA BC007715.2 None
    mRNA BC063840.1 AAH63840.1
    mRNA BP271262.1 None
    mRNA BX647233.1 CAH56179.1
    mRNA BX648109.1 CAH56171.1
    mRNA CN398334.1 None
    mRNA D42040.1 BAA07641.1
    mRNA DA127395.1 None
    mRNA DA505721.1 None
    mRNA DC379337.1 None
    mRNA H11588.1 None
    mRNA M80613.1 AAA68890.1
    mRNA S78771.1 None
    mRNA X62083.1 CAA43996.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P25440.2 GenPept UniProtKB/Swiss-Prot:P25440
    Q63HQ9 GenPept UniProtKB/TrEMBL:Q63HQ9
    Q658Y7 GenPept UniProtKB/TrEMBL:Q658Y7
    Q9UNM9 GenPept UniProtKB/TrEMBL:Q9UNM9
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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