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BRD2 bromodomain containing 2 [ Homo sapiens (human) ]

Gene ID: 6046, updated on 27-Nov-2024

Summary

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Official Symbol
BRD2provided by HGNC
Official Full Name
bromodomain containing 2provided by HGNC
Primary source
HGNC:HGNC:1103
See related
Ensembl:ENSG00000204256 MIM:601540; AllianceGenome:HGNC:1103
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; FSHRG1; 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]
Expression
Ubiquitous expression in bone marrow (RPKM 74.5), thyroid (RPKM 55.5) and 25 other tissues See more
Orthologs
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Genomic context

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See BRD2 in Genome Data Viewer
Location:
6p21.32
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (32968594..32981505)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (32789953..32802871)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32936371..32949282)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene major histocompatibility complex, class II, DM alpha Neighboring gene uncharacterized LOC124901302 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:32935448-32935987 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:32937286-32938485 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:32939954-32940562 Neighboring gene meiotic recombination hotspot DNA3 Neighboring gene meiotic recombination hotspot DNA2 Neighboring gene meiotic recombination hotspot DNA1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:32977249-32977764 Neighboring gene major histocompatibility complex, class II, DO alpha Neighboring gene meiotic recombination hotspot DPA1 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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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 Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Activation-induced nuclear translocation of RING3. Guo N, et al. J Cell Sci, 2000 Sep. PMID 10934046, Free PMC Article
  2. Bromodomain-containing protein 2 gene in photosensitive epilepsy. Yavuz EN, et al. Seizure, 2012 Oct. PMID 22766109
  3. Bromodomain analysis of Brd2-dependent transcriptional activation of cyclin A. Sinha A, et al. Biochem J, 2005 Apr 1. PMID 15548137, Free PMC Article
  4. Identification of transcription complexes that contain the double bromodomain protein Brd2 and chromatin remodeling machines. Denis GV, et al. J Proteome Res, 2006 Mar. PMID 16512664, Free PMC Article
  5. BRD2 induces drug resistance through activation of the RasGRP1/Ras/ERK signaling pathway in adult T-cell lymphoblastic lymphoma. Tian XP, et al. Cancer Commun (Lond), 2020 Jun. PMID 32459053, Free PMC Article

See all (167) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Epigenetic Reader, Bromodomain Containing 2, Mediates Cholangiocyte Senescence via Interaction With ETS Proto-Oncogene 1.
    Title: The Epigenetic Reader, Bromodomain Containing 2, Mediates Cholangiocyte Senescence via Interaction With ETS Proto-Oncogene 1.
  2. PD-L1 is upregulated via BRD2 in head and neck squamous cell carcinoma models of acquired cetuximab resistance.
    Title: PD-L1 is upregulated via BRD2 in head and neck squamous cell carcinoma models of acquired cetuximab resistance.
  3. Mechanical strain-mediated reduction in RANKL expression is associated with RUNX2 and BRD2.
    Title: Mechanical strain-mediated reduction in RANKL expression is associated with RUNX2 and BRD2.
  4. BRD2 regulation of sigma-2 receptor upon cholesterol deprivation.
    Title: BRD2 regulation of sigma-2 receptor upon cholesterol deprivation.
  5. BRD2 induces drug resistance through activation of the RasGRP1/Ras/ERK signaling pathway in adult T-cell lymphoblastic lymphoma.
    Title: BRD2 induces drug resistance through activation of the RasGRP1/Ras/ERK signaling pathway in adult T-cell lymphoblastic lymphoma.
  6. Bromodomain and extra-terminal domain (BET) proteins regulate melanocyte differentiation.
    Title: Bromodomain and extra-terminal domain (BET) proteins regulate melanocyte differentiation.
  7. Comparative structure-function analysis of bromodomain and extraterminal motif (BET) proteins in a gene-complementation system.
    Title: Comparative structure-function analysis of bromodomain and extraterminal motif (BET) proteins in a gene-complementation system.
  8. There is a uniform low average percentage of BRD2 promoter CpG methylation (<4.5%) for 13 CpG76-CpGs in whole blood cells from 782 unrelated European Caucasian. (SNP) rs3918149 alleles were not associated with JME or CpG76 methylation. Our results do not support the previous observation that a high DNA methylation level of the BRD2 promoter CpG76 island is a prevalent epigenetic motif associated with JME in Caucasians.
    Title: No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.
  9. a number of genes important for keratinocyte homeostasis and cornification were dysregulated in BRD2-deficient keratinocytes. In IL17A/TNF/IL22 stimulated three-dimensional organotypic raft cultures, pan-BRD inhibition reduced inflammatory factor production but elicited aberrant cornification, consistent with RNA-Seq analysis
    Title: Small Molecule and Pooled CRISPR Screens Investigating IL17 Signaling Identify BRD2 as a Novel Contributor to Keratinocyte Inflammatory Responses.
  10. These data suggest that LYAR promotes the association of the BRD2-KAT7 and BRD4-KAT7 complexes with transcription-competent rDNA loci but not to transcriptionally silent rDNA loci, thereby increasing rRNA synthesis by altering the local acetylation status of histone H3 and H4.
    Title: LYAR potentiates rRNA synthesis by recruiting BRD2/4 and the MYST-type acetyltransferase KAT7 to rDNA.
Submit: New GeneRIF Correction See all GeneRIFs (58)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ31942, KIAA9001, DKFZp686N0336

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables acetylation-dependent protein binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables chromatin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chromatin binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables histone binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables lysine-acetylated histone binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein serine/threonine kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables protein serine/threonine kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
Process Evidence Code Pubs
involved_in chromatin looping IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chromatin remodeling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in neural tube closure IEA
Inferred from Electronic Annotation
more info
  
involved_in nucleosome assembly IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in positive regulation of T-helper 17 cell lineage commitment IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in protein localization to chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in spermatogenesis TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in chromatin IBA
Inferred from Biological aspect of Ancestor
more info
  
is_active_in chromatin IDA
Inferred from Direct Assay
more info
 PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
located_in nuclear speck IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
bromodomain-containing protein 2
Names
BRD2 intronic transcript 1
female sterile homeotic-related gene 1
really interesting new gene 3 protein

NCBI Reference Sequences (RefSeq)

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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
    4935..17842
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001113182.3 → NP_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
    A2AAU0, B0S7P0, B1AZT1, O00699, O00700, P25440, Q15310, Q5STC9, Q63HQ9, Q658Y7, Q6P3U2, Q969U4
    UniProtKB/TrEMBL
    H0Y6K2
    Related
    ENSP00000363964.4, ENST00000374831.8
    Conserved Domains (4) summary
    cd05497
    Location:74 → 180
    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
    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 ...
    PHA03247
    Location:216 → 333
    PHA03247; large tegument protein UL36; Provisional
    pfam17035
    Location:641 → 703
    BET; Bromodomain extra-terminal - transcription regulation

  2. NM_001199455.1 → NP_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/TrEMBL
    A0A0G2JK44
    Related
    ENSP00000378702.1, ENST00000395287.5
    Conserved Domains (4) summary
    cd05497
    Location:74 → 180
    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
    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
    GVQW; Putative domain of unknown function
    pfam17035
    Location:676 → 740
    BET; Bromodomain extra-terminal - transcription regulation

  3. NM_001199456.2 → NP_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
    UniProtKB/TrEMBL
    H0Y6K2, X5CF57
    Related
    ENSP00000409613.1, ENST00000449025.5
    Conserved Domains (3) summary
    cd05497
    Location:27 → 133
    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
    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:594 → 658
    BET; Bromodomain extra-terminal - transcription regulation

  4. NM_001291986.2 → NP_001278915.1  bromodomain-containing protein 2 isoform 4

    See identical proteins and their annotated locations for NP_001278915.1

    Status: REVIEWED

    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/TrEMBL
    A0A1U9X7A8, A0A1U9X7B3, A0A1U9X7B4, A0A1U9X7B8
    Conserved Domains (4) summary
    cd05498
    Location:229 → 330
    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 ...
    PHA03247
    Location:96 → 213
    PHA03247; large tegument protein UL36; Provisional
    pfam17035
    Location:521 → 583
    BET; Bromodomain extra-terminal - transcription regulation
    cl02556
    Location:1 → 60
    Bromodomain; Bromodomains are found in many chromatin-associated proteins and in nuclear histone acetyltransferases. They interact specifically with acetylated lysine.

  5. NM_005104.4 → NP_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, AL645941, AL832722, BP271262, D42040, DA127395, DC379337, H11588
    Consensus CDS
    CCDS4762.1
    UniProtKB/Swiss-Prot
    A2AAU0, B0S7P0, B1AZT1, O00699, O00700, P25440, Q15310, Q5STC9, Q63HQ9, Q658Y7, Q6P3U2, Q969U4
    UniProtKB/TrEMBL
    H0Y6K2
    Related
    ENSP00000363958.4, ENST00000374825.9
    Conserved Domains (4) summary
    cd05497
    Location:74 → 180
    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
    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 ...
    PHA03247
    Location:216 → 333
    PHA03247; large tegument protein UL36; Provisional
    pfam17035
    Location:641 → 703
    BET; Bromodomain extra-terminal - transcription regulation

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

    Range
    32968594..32981505
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047419222.1 → XP_047275178.1  bromodomain-containing protein 2 isoform X1

    Related
    ENSP00000475691.1, ENST00000607833.5

  2. XM_047419223.1 → XP_047275179.1  bromodomain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E9PIQ3
    Related
    ENSP00000436322.1, ENST00000495733.5

Reference GRCh38.p14 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p14 ALT_REF_LOCI_2

    Range
    4380803..4393720
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054329844.1 → XP_054185819.1  bromodomain-containing protein 2 isoform X1

  2. XM_054329845.1 → XP_054185820.1  bromodomain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E9PIQ3

Reference GRCh38.p14 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p14 ALT_REF_LOCI_3

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

Reference GRCh38.p14 ALT_REF_LOCI_4

Genomic

  1. NT_167246.2 Reference GRCh38.p14 ALT_REF_LOCI_4

    Range
    4387978..4400883
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054330618.1 → XP_054186593.1  bromodomain-containing protein 2 isoform X1

  2. XM_054330619.1 → XP_054186594.1  bromodomain-containing protein 2 isoform X2

Reference GRCh38.p14 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p14 ALT_REF_LOCI_5

    Range
    4267651..4278257
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p14 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p14 ALT_REF_LOCI_6

    Range
    4162919..4175823
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331105.1 → XP_054187080.1  bromodomain-containing protein 2 isoform X1

  2. XM_054331106.1 → XP_054187081.1  bromodomain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E9PIQ3

Reference GRCh38.p14 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p14 ALT_REF_LOCI_7

    Range
    4367841..4430762
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054331369.1 → XP_054187344.1  bromodomain-containing protein 2 isoform X1

  2. XM_054331370.1 → XP_054187345.1  bromodomain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E9PIQ3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060930.1 Alternate T2T-CHM13v2.0

    Range
    32789953..32802871
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054356162.1 → XP_054212137.1  bromodomain-containing protein 2 isoform X1

  2. XM_054356163.1 → XP_054212138.1  bromodomain-containing protein 2 isoform X2

    UniProtKB/TrEMBL
    E9PIQ3

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.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P25440.2 GenPept UniProtKB/Swiss-Prot:P25440

Gene LinkOut

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