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Aliases for BRD2 Gene

Aliases for BRD2 Gene

  • Bromodomain Containing 2 2 3 5
  • Really Interesting New Gene 3 Protein 3 4
  • BRD2 Intronic Transcript 1 2 3
  • O27.1.1 3 4
  • RING3 3 4
  • Female Sterile Homeotic-Related Gene 1 3
  • Bromodomain-Containing Protein 2 3
  • Bromodomain-Containing 2 2
  • BRD2-IT1 3
  • KIAA9001 4
  • D6S113E 3
  • FSRG1 3
  • RNF3 3
  • FSH 3
  • NAT 3

External Ids for BRD2 Gene

Previous HGNC Symbols for BRD2 Gene

  • BRD2-IT1

Previous GeneCards Identifiers for BRD2 Gene

  • GC06P032938
  • GC06P032707
  • GC06P032983
  • GC06P033044
  • GC06P032678
  • GC06P032944
  • GC06P032945
  • GC06P032949

Summaries for BRD2 Gene

Entrez Gene Summary for BRD2 Gene

  • 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]

GeneCards Summary for BRD2 Gene

BRD2 (Bromodomain Containing 2) is a Protein Coding gene. Diseases associated with BRD2 include Enterocele and Prolapse Of Female Genital Organ. Among its related pathways are Regulation of retinoblastoma protein and DNA Damage. Gene Ontology (GO) annotations related to this gene include chromatin binding and lysine-acetylated histone binding. An important paralog of this gene is BRD3.

UniProtKB/Swiss-Prot for BRD2 Gene

  • 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.

Tocris Summary for BRD2 Gene

  • Bromodomains (BRDs) are epigenetic reader domains that selectively recognize acetylated lysine residues on the tails of histone proteins, and are the only known protein modules that can target acetylated lysine residues.

Gene Wiki entry for BRD2 Gene

Additional gene information for BRD2 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BRD2 Gene

Genomics for BRD2 Gene

GeneHancer (GH) Regulatory Elements for BRD2 Gene

Promoters and enhancers for BRD2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06I032965 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 765.3 +2.0 2009 10.4 ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 ZNF548 ZNF263 BRD2 HLA-DMA ENSG00000223837 LEMD2 VPS52 RXRB ATF6B DAXX HCG25 RING1
GH06I033270 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 88.1 +306.5 306469 8.4 CLOCK MLX ZFP64 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 RPS18 VPS52 B3GALT4 PIR43330 BRD2 LEMD2 DAXX RXRB RING1 WDR46
GH06I032175 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 66.1 -790.9 -790900 5.1 DMAP1 YBX1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC GLIS1 NR2C1 RNF5 AGPAT1 BRD2 LSM2 LY6G5B DDX39B ATF6B GPANK1 VARS BAG6
GH06I033203 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 66 +237.7 237743 5.8 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC SSRP1 ZNF610 GLIS1 RING1 HSD17B8 GC06P033209 MIR219A1 BRD2 LEMD2 VPS52 RXRB HCG25 DAXX
GH06I033390 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 51.6 +424.0 423985 4.4 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 KIFC1 DAXX BRD2 LEMD2 RXRB RGL2 WDR46 VPS52 RPS18 HLA-DOB
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around BRD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the BRD2 gene promoter:

Genomic Locations for BRD2 Gene

Genomic Locations for BRD2 Gene
chr6:32,968,660-32,981,505
(GRCh38/hg38)
Size:
12,846 bases
Orientation:
Plus strand
chr6:32,936,437-32,949,282
(GRCh37/hg19)

Genomic View for BRD2 Gene

Genes around BRD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BRD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BRD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for BRD2 Gene

  • Protein details for BRD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P25440-BRD2_HUMAN
    Recommended name:
    Bromodomain-containing protein 2
    Protein Accession:
    P25440
    Secondary Accessions:
    • A2AAU0
    • B0S7P0
    • B1AZT1
    • O00699
    • O00700
    • Q15310
    • Q5STC9
    • Q63HQ9
    • Q658Y7
    • Q6P3U2
    • Q969U4

    Protein attributes for BRD2 Gene

    Size:
    801 amino acids
    Molecular mass:
    88061 Da
    Quaternary structure:
    • Homodimer. Interacts with E2F1 and with histone H4 acetylated at Lys-13.
    SequenceCaution:
    • Sequence=AAA68890.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BRD2 Gene

    Alternative splice isoforms for BRD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for BRD2 Gene

Post-translational modifications for BRD2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BRD2 Gene

Domains & Families for BRD2 Gene

Gene Families for BRD2 Gene

Protein Domains for BRD2 Gene

Graphical View of Domain Structure for InterPro Entry

P25440

UniProtKB/Swiss-Prot:

BRD2_HUMAN :
  • One bromodomain is sufficient for a partial interaction with histone H4 acetylated at Lys-13.
Domain:
  • One bromodomain is sufficient for a partial interaction with histone H4 acetylated at Lys-13.
genes like me logo Genes that share domains with BRD2: view

Function for BRD2 Gene

Molecular function for BRD2 Gene

UniProtKB/Swiss-Prot 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.

Phenotypes From GWAS Catalog for BRD2 Gene

Gene Ontology (GO) - Molecular Function for BRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding IDA 18406326
GO:0005515 protein binding IPI 20709061
GO:0070577 lysine-acetylated histone binding IDA 18406326
genes like me logo Genes that share ontologies with BRD2: view
genes like me logo Genes that share phenotypes with BRD2: view

Clone Products

  • Addgene plasmids for BRD2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for BRD2 Gene

Localization for BRD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BRD2 Gene

Nucleus. Note=Detected on chromatin and nucleosomes.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BRD2 gene
Compartment Confidence
nucleus 5

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nuclear speckles (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for BRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA --
GO:0016607 nuclear speck IDA --
genes like me logo Genes that share ontologies with BRD2: view

Pathways & Interactions for BRD2 Gene

genes like me logo Genes that share pathways with BRD2: view

Pathways by source for BRD2 Gene

1 BioSystems pathway for BRD2 Gene
3 Cell Signaling Technology pathways for BRD2 Gene

Gene Ontology (GO) - Biological Process for BRD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006334 nucleosome assembly IMP 18406326
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IDA 18406326
GO:0007283 spermatogenesis TAS 9693039
genes like me logo Genes that share ontologies with BRD2: view

No data available for SIGNOR curated interactions for BRD2 Gene

Drugs & Compounds for BRD2 Gene

(33) Drugs for BRD2 Gene - From: ApexBio, DGIdb, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
GW841819X Pharma BET bromodomain inhibitor 0
I-BET-762 Pharma BET inhibitor,highly potent 0
(-)-JQ1 Pharma BET bromodomain inhibitor 0
BAZ2-ICR Pharma 0
BET-BAY 002 Pharma 0

(4) Additional Compounds for BRD2 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
I-BET 151 dihydrochloride
1883545-47-8

(5) Tocris Compounds for BRD2 Gene

Compound Action Cas Number
(+)-JQ1 Potent, selective BET bromodomain inhibitor; cell permeable 1268524-70-4
Bromosporine Broad spectrum bromodomain inhibitor
I-BET 151 dihydrochloride BET bromodomain inhibitor; also promotes differentiation of hiPSCs into megakaryocytes 1883545-47-8
Ischemin sodium salt CBP inhibitor; cell permeable
PFI 1 BET bromodomain inhibitor 1403764-72-6

(22) ApexBio Compounds for BRD2 Gene

Compound Action Cas Number
(-)-JQ1 BET bromodomain inhibitor 1268524-71-5
BAZ2-ICR
BET-BAY 002 1588521-78-1
Bromodomain Inhibitor, (+)-JQ1 BET bromodomain inhibitor 1268524-70-4
Bromosporine Bromodomain inhibitor,non-selective 1619994-69-2
CPI-203 BET bromodomain inhibitor 1446144-04-2
GSK 525768A inactive stereoisomer of I-BET-762 1260530-25-3
GSK 5959 901245-65-6
GSK1324726A BET proteins inhibitor 1300031-52-0
GW841819X BET bromodomain inhibitor
I-BET 151 hydrochloride
I-BET151 (GSK1210151A) Selective BET inhibitor 1300031-49-5
I-BET-762 BET inhibitor,highly potent 1260907-17-2
Ischemin sodium salt
MS436 BRD4 inhibitor 1395084-25-9
OF-1 BRPF1B and BRPF2 bromodomain inhibitor 919973-83-4
OTX-015 BRD inhibitor 202590-98-5
OXF BD 02 1429129-68-9
PFI-1 (PF-6405761) BET inhibitor 1403764-72-6
RVX-208 Potent BET bromodomain inhibitor 1044870-39-4
UNC1215 Chemical probe for the methyllysine (Kme) 1415800-43-9
UNC669 L3MBTL antagonist,potent and selective 1314241-44-5
genes like me logo Genes that share compounds with BRD2: view

Drug Products

Transcripts for BRD2 Gene

Unigene Clusters for BRD2 Gene

Bromodomain containing 2:
Representative Sequences:

Clone Products

  • Addgene plasmids for BRD2

Alternative Splicing Database (ASD) splice patterns (SP) for BRD2 Gene

No ASD Table

Relevant External Links for BRD2 Gene

GeneLoc Exon Structure for
BRD2
ECgene alternative splicing isoforms for
BRD2

Expression for BRD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BRD2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BRD2 Gene

This gene is overexpressed in CD8 Tcells (18.8) and Liver, secretome (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BRD2 Gene



Protein tissue co-expression partners for BRD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of BRD2 Gene:

BRD2

SOURCE GeneReport for Unigene cluster for BRD2 Gene:

Hs.75243

Evidence on tissue expression from TISSUES for BRD2 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Blood(4.5)
  • Lung(4.3)
  • Bone marrow(4.1)
  • Intestine(4)
  • Kidney(3.2)
  • Eye(2.9)
  • Muscle(2.8)
  • Stomach(2.8)
  • Heart(2.5)
  • Skin(2.4)
  • Spleen(2.4)
  • Pancreas(2.1)
genes like me logo Genes that share expression patterns with BRD2: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for BRD2 Gene

Orthologs for BRD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for BRD2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BRD2 33 34
  • 98.02 (n)
oppossum
(Monodelphis domestica)
Mammalia BRD2 34
  • 93 (a)
OneToOne
dog
(Canis familiaris)
Mammalia BRD2 33 34
  • 89.66 (n)
cow
(Bos Taurus)
Mammalia BRD2 33 34
  • 89.32 (n)
mouse
(Mus musculus)
Mammalia Brd2 33 16 34
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia LOC100909544 33
  • 87.51 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 35 (a)
ManyToMany
chicken
(Gallus gallus)
Aves BRD2 33 34
  • 71.54 (n)
lizard
(Anolis carolinensis)
Reptilia BRD2 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia brd2 33
  • 67.65 (n)
Str.10243 33
African clawed frog
(Xenopus laevis)
Amphibia brd2-A-prov 33
zebrafish
(Danio rerio)
Actinopterygii brd2a 33 34
  • 61.53 (n)
brd2b 34
  • 54 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.506 33
fruit fly
(Drosophila melanogaster)
Insecta fs(1)h 35 34
  • 56 (a)
rice
(Oryza sativa)
Liliopsida Os.37125 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
Species where no ortholog for BRD2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BRD2 Gene

ENSEMBL:
Gene Tree for BRD2 (if available)
TreeFam:
Gene Tree for BRD2 (if available)

Paralogs for BRD2 Gene

Paralogs for BRD2 Gene

genes like me logo Genes that share paralogs with BRD2: view

Variants for BRD2 Gene

Sequence variations from dbSNP and Humsavar for BRD2 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
VAR_041904 A glioblastoma multiforme sample p.Gly30Glu
VAR_041909 A gastric adenocarcinoma sample p.Arg558Gly
VAR_041912 A glioblastoma multiforme sample p.Pro714Leu
rs864309591 uncertain-significance, not specified 32,974,467(+) C/T 5_prime_UTR_variant, coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1000069582 -- 32,980,805(+) G/A 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for BRD2 Gene

Variant ID Type Subtype PubMed ID
esv2759417 CNV gain 17122850
nsv1073969 CNV deletion 25765185
nsv1112900 CNV deletion 24896259
nsv1119076 CNV deletion 24896259
nsv483081 CNV loss 15286789
nsv527280 CNV loss 19592680
nsv602817 CNV loss 21841781
nsv819221 CNV gain 19587683
nsv830633 CNV loss 17160897

Variation tolerance for BRD2 Gene

Residual Variation Intolerance Score: 2.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.26; 76.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for BRD2 Gene

Human Gene Mutation Database (HGMD)
BRD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
BRD2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BRD2 Gene

Disorders for BRD2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for BRD2 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
enterocele
  • vaginal enterocele
prolapse of female genital organ
photosensitive epilepsy
  • photogenic epilepsy
epilepsy, idiopathic generalized 10
  • epilepsy, idiopathic generalized, susceptibility to, 10
adolescence-adult electroclinical syndrome
- elite association - COSMIC cancer census association via MalaCards
Search BRD2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for BRD2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with BRD2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BRD2 Gene

Publications for BRD2 Gene

  1. Phylogeny and structure of the RING3 gene. (PMID: 8781126) Thorpe KL … Beck S (Immunogenetics 1996) 2 3 4 22 58
  2. A homologue of the Drosophila female sterile homeotic (fsh) gene in the class II region of the human MHC. (PMID: 1352711) Beck S … Trowsdale J (DNA sequence : the journal of DNA sequencing and mapping 1992) 2 3 4 22 58
  3. BRD2 and TAP-1 genes and juvenile myoclonic epilepsy. (PMID: 19953286) Layouni S … Dogui M (Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2010) 3 22 44 58
  4. Association of BRD2 polymorphisms with photoparoxysmal response. (PMID: 16516380) Lorenz S … Stephani U (Neuroscience letters 2006) 3 22 44 58
  5. BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy. (PMID: 12830434) Pal DK … Greenberg DA (American journal of human genetics 2003) 3 22 44 58

Products for BRD2 Gene