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BRD2 bromodomain containing 2 [ Homo sapiens (human) ]

Gene ID: 6046, updated on 8-Feb-2015
Official Symbol
BRD2provided by HGNC
Official Full Name
bromodomain containing 2provided by HGNC
Primary source
HGNC:HGNC:1103
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
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
See BRD2 in MapViewer
Location:
6p21.3
Exon count:
17
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 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

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
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
 
nucleus IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
bromodomain-containing protein 2
Names
bromodomain-containing protein 2
O27.1.1
bromodomain-containing 2
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.

mRNA and Protein(s)

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

    See proteins identical to 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/TrEMBL
    A0A024RCR5
    UniProtKB/Swiss-Prot
    P25440
    Related
    ENSP00000363964, OTTHUMP00000178757, ENST00000374831, OTTHUMT00000276544
    Conserved Domains (2) 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 ...
  2. NM_001199455.1NP_001186384.1  bromodomain-containing protein 2 isoform 2

    See proteins identical to 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
    ENSP00000378704, ENST00000395289
    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 ...
    pfam13900
    Location:616651
    GVQW; Putative binding domain
  3. NM_001199456.1NP_001186385.1  bromodomain-containing protein 2 isoform 3

    See proteins identical to 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, ENST00000449085
    Conserved Domains (2) 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 ...
  4. NM_001291986.1NP_001278915.1  bromodomain-containing protein 2 isoform 4

    See proteins identical to 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 (2) 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 ...
    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 proteins identical to 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/TrEMBL
    A0A024RCR5
    UniProtKB/Swiss-Prot
    P25440
    Related
    ENSP00000363958, OTTHUMP00000029350, ENST00000374825, OTTHUMT00000076503
    Conserved Domains (2) 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 ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38 Primary Assembly

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

RNA

  1. XR_241911.1 RNA Sequence

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38 ALT_REF_LOCI_2

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

RNA

  1. XR_246967.2 RNA Sequence

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38 ALT_REF_LOCI_3

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

Reference GRCh38 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38 ALT_REF_LOCI_4

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

RNA

  1. XR_247375.1 RNA Sequence

Reference GRCh38 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38 ALT_REF_LOCI_5

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

Reference GRCh38 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38 ALT_REF_LOCI_6

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

RNA

  1. XR_247406.1 RNA Sequence

Reference GRCh38 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38 ALT_REF_LOCI_7

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

RNA

  1. XR_247427.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 Alternate CHM1_1.1

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

Alternate HuRef

Genomic

  1. AC_000138.1 Alternate HuRef

    Range
    32678978..32691818
    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.