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    BRD2 bromodomain containing 2 [ Homo sapiens (human) ]

    Gene ID: 6046, updated on 21-May-2017
    Official Symbol
    BRD2provided by HGNC
    Official Full Name
    bromodomain containing 2provided by HGNC
    Primary source
    HGNC:HGNC:1103
    See related
    Ensembl:ENSG00000204256 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; O27.1.1; BRD2-IT1
    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]
    Orthologs
    Location:
    6p21.32
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 6 NC_000006.12 (32968660..32981505)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32936437..32949282)

    Chromosome 6 - NC_000006.12Genomic 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

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ31942, KIAA9001, DKFZp686N0336

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    chromatin binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    lysine-acetylated histone binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    nucleosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    regulation of transcription from RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    PubMed 
    spermatogenesis TAS
    Traceable Author Statement
    more info
    PubMed 
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm TAS
    Traceable Author Statement
    more info
     
    Preferred Names
    bromodomain-containing protein 2
    Names
    BRD2 intronic transcript 1
    female sterile homeotic-related gene 1
    really interesting new gene 3 protein

    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.

    Genomic

    1. NG_042801.1 RefSeqGene

      Range
      5001..17846
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

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

      See identical proteins and their annotated locations for NP_001106653.1

      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
      A0A024RCR5
      Related
      ENSP00000363964.4, OTTHUMP00000178757, ENST00000374831.8, OTTHUMT00000276544
      Conserved Domains (3) summary
      cd05497
      Location:74180
      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:349450
      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 ...
      pfam17035
      Location:641705
      BET; Bromodomain extra-terminal - transcription regulation
    2. NM_001199455.1NP_001186384.1  bromodomain-containing protein 2 isoform 2

      See identical proteins and their annotated locations for NP_001186384.1

      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/Swiss-Prot
      P25440
      Related
      ENSP00000378702.1, OTTHUMP00000178758, ENST00000395287.5, OTTHUMT00000276545
      Conserved Domains (4) summary
      cd05497
      Location:74180
      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:349450
      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:616651
      GVQW; Putative domain of unknown function
      pfam17035
      Location:676740
      BET; Bromodomain extra-terminal - transcription regulation
    3. NM_001199456.1NP_001186385.1  bromodomain-containing protein 2 isoform 3

      See identical proteins and their annotated locations for NP_001186385.1

      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
      X5CF57
      Related
      ENSP00000409145.2, ENST00000449085.3
      Conserved Domains (3) summary
      cd05497
      Location:27133
      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:302403
      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 ...
      pfam17035
      Location:594658
      BET; Bromodomain extra-terminal - transcription regulation
    4. NM_001291986.1NP_001278915.1  bromodomain-containing protein 2 isoform 4

      See identical proteins and their annotated locations for NP_001278915.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) has an alternate 5' exon and an additional internal exon compared to variant 1. The resulting isoform (4) is shorter at the N-terminus compared to isoform 1.
      Source sequence(s)
      AL645941, AL832722, D42040, HY065625
      UniProtKB/Swiss-Prot
      P25440
      Conserved Domains (3) summary
      cd05498
      Location:229330
      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 ...
      pfam17035
      Location:521585
      BET; Bromodomain extra-terminal - transcription regulation
      cl02556
      Location:160
      Bromodomain; Bromodomain. Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.
    5. NM_005104.3NP_005095.1  bromodomain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_005095.1

      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
      A0A024RCR5
      Related
      ENSP00000363958.4, OTTHUMP00000029350, ENST00000374825.8, OTTHUMT00000076503
      Conserved Domains (3) summary
      cd05497
      Location:74180
      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:349450
      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 ...
      pfam17035
      Location:641705
      BET; Bromodomain extra-terminal - transcription regulation

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p7 Primary Assembly

      Range
      32968660..32981505
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    RNA

    1. XR_001743557.1 RNA Sequence

    2. XR_241911.2 RNA Sequence

      Related
      ENST00000607833.5, OTTHUMT00000470711

    Reference GRCh38.p7 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p7 ALT_REF_LOCI_2

      Range
      4380869..4393720
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p7 ALT_REF_LOCI_3

      Range
      4190197..4225039
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_4

    Genomic

    1. NT_167246.2 Reference GRCh38.p7 ALT_REF_LOCI_4

      Range
      4388044..4400883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p7 ALT_REF_LOCI_5

      Range
      4267717..4278257
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_6

    Genomic

    1. NT_167248.2 Reference GRCh38.p7 ALT_REF_LOCI_6

      Range
      4162985..4175823
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p7 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p7 ALT_REF_LOCI_7

      Range
      4367907..4430762
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

      Range
      32937242..32950091
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NR_037625.1: Suppressed sequence

      Description
      NR_037625.1: This RefSeq was permanently suppressed because it is now thought that this transcript does encode a protein.
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