Human Gene BRD4 (ENST00000263377.6) Description and Page Index
  Description: Homo sapiens bromodomain containing 4 (BRD4), transcript variant long, mRNA. (from RefSeq NM_058243)
RefSeq Summary (NM_058243): The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000263377.6
Gencode Gene: ENSG00000141867.17
Transcript (Including UTRs)
   Position: hg38 chr19:15,235,519-15,280,451 Size: 44,933 Total Exon Count: 20 Strand: -
Coding Region
   Position: hg38 chr19:15,238,377-15,273,099 Size: 34,723 Coding Exon Count: 19 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionRNA StructureProtein StructureOther SpeciesGO AnnotationsmRNA Descriptions
Other NamesMethods
Data last updated: 2019-09-04

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:15,235,519-15,280,451)mRNA (may differ from genome)Protein (1362 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblEntrez GeneExonPrimerGeneCardsHGNC
HPRDLynxMGImyGene2neXtProtOMIM
PubMedStanford SOURCEUniProtKBWikipedia

-  Comments and Description Text from UniProtKB
  ID: BRD4_HUMAN
DESCRIPTION: RecName: Full=Bromodomain-containing protein 4; AltName: Full=Protein HUNK1;
FUNCTION: Plays a role in a process governing chromosomal dynamics during mitosis (By similarity).
SUBUNIT: Associated with chromosomes during mitosis (By similarity). Interacts with bovine papillomavirus type 1 regulatory protein E2.
INTERACTION: P62993:GRB2; NbExp=2; IntAct=EBI-723869, EBI-401755; P16333:NCK1; NbExp=2; IntAct=EBI-723869, EBI-389883;
SUBCELLULAR LOCATION: Nucleus (By similarity).
TISSUE SPECIFICITY: Ubiquitously expressed.
DISEASE: Note=A chromosomal aberration involving BRD4 is found in a rare, aggressive, and lethal carcinoma arising in midline organs of young people. Translocation t(15;19)(q14;p13) with NUT which produces a BRD4-NUT fusion protein.
SIMILARITY: Contains 2 bromo domains.
SIMILARITY: Contains 1 NET domain.
SEQUENCE CAUTION: Sequence=AAC27978.1; Type=Erroneous initiation;
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BRD4ID837ch19p13.html";

-  MalaCards Disease Associations
  MalaCards Gene Search: BRD4
Diseases sorted by gene-association score: nut midline carcinoma* (267), spinal canal intradural extramedullary neoplasm (16), diffuse lipomatosis (11), hyperglobulinemic purpura (9), functional colonic disease (6), colonic pseudo-obstruction (5), multiple cranial nerve palsy (5), blastic plasmacytoid dendritic cell (5), diabetes mellitus, ketosis-prone (5), extragonadal seminoma (5), primary hypomagnesemia (4), hypokalemic periodic paralysis, type 1 (4), glossopharyngeal nerve disease (4)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 16.14 RPKM in Testis
Total median expression: 550.73 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -73.60222-0.332 Picture PostScript Text
3' UTR -865.632858-0.303 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain
IPR018359 - Bromodomain_CS

Pfam Domains:
PF00439 - Bromodomain

Protein Data Bank (PDB) 3-D Structure
MuPIT help

2I8N
- NMR MuPIT

2LSP
- NMR MuPIT

2NNU
- X-ray MuPIT
To conserve bandwidth, only the images from the first 3 structures are shown.
2OSS - X-ray MuPIT 2OUO - X-ray MuPIT 2YEL - X-ray MuPIT
2YEM - X-ray MuPIT 3MXF - X-ray MuPIT 3P5O - X-ray MuPIT
3SVF - X-ray MuPIT 3SVG - X-ray MuPIT 3U5J - X-ray MuPIT
3U5K - X-ray MuPIT 3U5L - X-ray MuPIT 3UVW - X-ray MuPIT
3UVX - X-ray MuPIT 3UVY - X-ray MuPIT 3UW9 - X-ray MuPIT
3ZYU - X-ray MuPIT 4A9L - X-ray MuPIT 4E96 - X-ray MuPIT
4F3I - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O60885
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000993 RNA polymerase II core binding
GO:0002039 p53 binding
GO:0003682 chromatin binding
GO:0005515 protein binding
GO:0070577 lysine-acetylated histone binding

Biological Process:
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycle
GO:0006325 chromatin organization
GO:0006338 chromatin remodeling
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006974 cellular response to DNA damage stimulus
GO:0010971 positive regulation of G2/M transition of mitotic cell cycle
GO:0016032 viral process
GO:0032968 positive regulation of transcription elongation from RNA polymerase II promoter
GO:0043123 positive regulation of I-kappaB kinase/NF-kappaB signaling
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0050727 regulation of inflammatory response
GO:1901407 regulation of phosphorylation of RNA polymerase II C-terminal domain
GO:2000002 negative regulation of DNA damage checkpoint

Cellular Component:
GO:0000794 condensed nuclear chromosome
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005694 chromosome
GO:0005829 cytosol


-  Descriptions from all associated GenBank mRNAs
  LF210778 - JP 2014500723-A/18281: Polycomb-Associated Non-Coding RNAs.
MA446355 - JP 2018138019-A/18281: Polycomb-Associated Non-Coding RNAs.
LF341050 - JP 2014500723-A/148553: Polycomb-Associated Non-Coding RNAs.
MA576627 - JP 2018138019-A/148553: Polycomb-Associated Non-Coding RNAs.
BC008354 - Homo sapiens, Similar to bromodomain-containing 4, clone IMAGE:3542455, mRNA, partial cds.
LF341051 - JP 2014500723-A/148554: Polycomb-Associated Non-Coding RNAs.
MA576628 - JP 2018138019-A/148554: Polycomb-Associated Non-Coding RNAs.
AF386649 - Homo sapiens bromodomain-containing 4 (BRD4) mRNA, complete cds.
JD296683 - Sequence 277707 from Patent EP1572962.
JD245396 - Sequence 226420 from Patent EP1572962.
JD179394 - Sequence 160418 from Patent EP1572962.
JD399981 - Sequence 381005 from Patent EP1572962.
JD549083 - Sequence 530107 from Patent EP1572962.
JD565323 - Sequence 546347 from Patent EP1572962.
JD125039 - Sequence 106063 from Patent EP1572962.
JD471895 - Sequence 452919 from Patent EP1572962.
JD395518 - Sequence 376542 from Patent EP1572962.
JD257608 - Sequence 238632 from Patent EP1572962.
JD095902 - Sequence 76926 from Patent EP1572962.
JD129206 - Sequence 110230 from Patent EP1572962.
JD538243 - Sequence 519267 from Patent EP1572962.
JD380724 - Sequence 361748 from Patent EP1572962.
JD395229 - Sequence 376253 from Patent EP1572962.
JD408802 - Sequence 389826 from Patent EP1572962.
JD354234 - Sequence 335258 from Patent EP1572962.
JD459932 - Sequence 440956 from Patent EP1572962.
JD211559 - Sequence 192583 from Patent EP1572962.
JD243753 - Sequence 224777 from Patent EP1572962.
LF341052 - JP 2014500723-A/148555: Polycomb-Associated Non-Coding RNAs.
MA576629 - JP 2018138019-A/148555: Polycomb-Associated Non-Coding RNAs.
JD461072 - Sequence 442096 from Patent EP1572962.
LF341053 - JP 2014500723-A/148556: Polycomb-Associated Non-Coding RNAs.
MA576630 - JP 2018138019-A/148556: Polycomb-Associated Non-Coding RNAs.
LF341054 - JP 2014500723-A/148557: Polycomb-Associated Non-Coding RNAs.
MA576631 - JP 2018138019-A/148557: Polycomb-Associated Non-Coding RNAs.
LF341056 - JP 2014500723-A/148559: Polycomb-Associated Non-Coding RNAs.
MA576633 - JP 2018138019-A/148559: Polycomb-Associated Non-Coding RNAs.
LF341057 - JP 2014500723-A/148560: Polycomb-Associated Non-Coding RNAs.
MA576634 - JP 2018138019-A/148560: Polycomb-Associated Non-Coding RNAs.
LF341059 - JP 2014500723-A/148562: Polycomb-Associated Non-Coding RNAs.
MA576636 - JP 2018138019-A/148562: Polycomb-Associated Non-Coding RNAs.
LF341060 - JP 2014500723-A/148563: Polycomb-Associated Non-Coding RNAs.
MA576637 - JP 2018138019-A/148563: Polycomb-Associated Non-Coding RNAs.
Y12059 - H.sapiens HUNKI mRNA.
BC035266 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone MGC:42948 IMAGE:4837491), complete cds.
KJ902344 - Synthetic construct Homo sapiens clone ccsbBroadEn_11738 BRD4 gene, encodes complete protein.
DQ580084 - Homo sapiens piRNA piR-48196, complete sequence.
LF341072 - JP 2014500723-A/148575: Polycomb-Associated Non-Coding RNAs.
MA576649 - JP 2018138019-A/148575: Polycomb-Associated Non-Coding RNAs.
LF341073 - JP 2014500723-A/148576: Polycomb-Associated Non-Coding RNAs.
MA576650 - JP 2018138019-A/148576: Polycomb-Associated Non-Coding RNAs.
LF341074 - JP 2014500723-A/148577: Polycomb-Associated Non-Coding RNAs.
MA576651 - JP 2018138019-A/148577: Polycomb-Associated Non-Coding RNAs.
AK307664 - Homo sapiens cDNA, FLJ97612.
LF341075 - JP 2014500723-A/148578: Polycomb-Associated Non-Coding RNAs.
MA576652 - JP 2018138019-A/148578: Polycomb-Associated Non-Coding RNAs.
BC000156 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:2900081), partial cds.
BC038988 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:5787152), partial cds.
BC091649 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:6650796), partial cds.
BC067129 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:6138785), partial cds.
BC047888 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:5496307), partial cds.
BC030158 - Homo sapiens bromodomain containing 4, mRNA (cDNA clone IMAGE:5086929), partial cds.
KF974357 - Homo sapiens bromodomain-containing protein 4 variant (BRD4) mRNA, partial cds, alternatively spliced.
DQ593249 - Homo sapiens piRNA piR-33361, complete sequence.
LF341077 - JP 2014500723-A/148580: Polycomb-Associated Non-Coding RNAs.
MA576654 - JP 2018138019-A/148580: Polycomb-Associated Non-Coding RNAs.
LF341078 - JP 2014500723-A/148581: Polycomb-Associated Non-Coding RNAs.
MA576655 - JP 2018138019-A/148581: Polycomb-Associated Non-Coding RNAs.
LF341079 - JP 2014500723-A/148582: Polycomb-Associated Non-Coding RNAs.
MA576656 - JP 2018138019-A/148582: Polycomb-Associated Non-Coding RNAs.
LF341083 - JP 2014500723-A/148586: Polycomb-Associated Non-Coding RNAs.
MA576660 - JP 2018138019-A/148586: Polycomb-Associated Non-Coding RNAs.
LF341087 - JP 2014500723-A/148590: Polycomb-Associated Non-Coding RNAs.
MA576664 - JP 2018138019-A/148590: Polycomb-Associated Non-Coding RNAs.
AF252390 - Homo sapiens uncharacterized HUTR gene, mRNA sequence.
LF341088 - JP 2014500723-A/148591: Polycomb-Associated Non-Coding RNAs.
MA576665 - JP 2018138019-A/148591: Polycomb-Associated Non-Coding RNAs.
JD341251 - Sequence 322275 from Patent EP1572962.
JD126235 - Sequence 107259 from Patent EP1572962.
JD465656 - Sequence 446680 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BRD4_HUMAN, HUNK1, NM_058243, O60433, O60885, Q86YS8, Q96PD3, uc002nar.1, uc002nar.2, uc002nar.3, uc002nar.4
UCSC ID: uc002nar.4
RefSeq Accession: NM_058243
Protein: O60885 (aka BRD4_HUMAN)
CCDS: CCDS12328.1

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.