Gene Gene information from NCBI Gene database.
Entrez ID 23476
Gene name Bromodomain containing 4
Gene symbol BRD4
Synonyms (NCBI Gene)
CAPCDLS6FSHRG4HUNK1HUNKIMCAP
Chromosome 19
Chromosome location 19p13.12
Summary 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
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs1555737887 T>G Likely-pathogenic Coding sequence variant, missense variant
rs1568383758 C>A Likely-pathogenic Coding sequence variant, missense variant
rs1599473950 GTG>- Likely-pathogenic Coding sequence variant, inframe deletion
miRNA miRNA information provided by mirtarbase database.
360
miRTarBase ID miRNA Experiments Reference
MIRT029120 hsa-miR-26b-5p Microarray 19088304
MIRT044471 hsa-miR-320a CLASH 23622248
MIRT042219 hsa-miR-484 CLASH 23622248
MIRT037828 hsa-miR-455-3p CLASH 23622248
MIRT036894 hsa-miR-877-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
NPM1 Unknown 24220271
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000785 Component Chromatin IBA
GO:0000794 Component Condensed nuclear chromosome IDA 10938129
GO:0000976 Function Transcription cis-regulatory region binding IDA 23086925
GO:0002039 Function P53 binding IDA 23317504
GO:0003682 Function Chromatin binding IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608749 13575 ENSG00000141867
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60885
Protein name Bromodomain-containing protein 4 (Protein HUNK1)
Protein function Chromatin reader protein that recognizes and binds acetylated histones and plays a key role in transmission of epigenetic memory across cell divisions and transcription regulation (PubMed:20871596, PubMed:23086925, PubMed:23317504, PubMed:291767
PDB 2I8N , 2LSP , 2MJV , 2N3K , 2NCZ , 2ND0 , 2ND1 , 2NNU , 2OSS , 2OUO , 2YEL , 2YEM , 3MXF , 3P5O , 3SVF , 3SVG , 3U5J , 3U5K , 3U5L , 3UVW , 3UVX , 3UVY , 3UW9 , 3ZYU , 4A9L , 4BJX , 4BW1 , 4BW2 , 4BW3 , 4BW4 , 4C66 , 4C67 , 4CFK , 4CFL , 4CL9 , 4CLB , 4DON , 4E96 , 4F3I , 4GPJ , 4HBV , 4HBW , 4HBX , 4HBY , 4HXK , 4HXL , 4HXM , 4HXN , 4HXO , 4HXP , 4HXR
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00439 Bromodomain 67 152 Bromodomain Domain
PF00439 Bromodomain 357 445 Bromodomain Domain
PF17035 BET 609 673 Bromodomain extra-terminal - transcription regulation Domain
PF17105 BRD4_CDT 1319 1362 C-terminal domain of bromodomain protein 4 Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. {ECO:0000269|PubMed:12543779}.
Sequence
MSAESGPGTRLRNLPVMGDGLETSQMSTTQAQAQPQPANAASTNPPPPETSNPNKPKRQT
NQLQYLLRVVLKTLWKHQFAWPFQQPVDAVKLNLPDYYKIIKTPMDMGTIKKRLENNYYW
NAQECIQDFNTMFTNCYIYNKPGDDIVLMAEA
LEKLFLQKINELPTEETEIMIVQAKGRG
RGRKETGTAKPGVSTVPNTTQASTPPQTQTPQPNPPPVQATPHPFPAVTPDLIVQTPVMT
VVPPQPLQTPPPVPPQPQPPPAPAPQPVQSHPPIIAATPQPVKTKKGVKRKADTTTPTTI
DPIHEPPSLPPEPKTTKLGQRRESSRPVKPPKKDVPDSQQHPAPEKSSKVSEQLKCCSGI
LKEMFAKKHAAYAWPFYKPVDVEALGLHDYCDIIKHPMDMSTIKSKLEAREYRDAQEFGA
DVRLMFSNCYKYNPPDHEVVAMARK
LQDVFEMRFAKMPDEPEEPVVAVSSPAVPPPTKVV
APPSSSDSSSDSSSDSDSSTDDSEEERAQRLAELQEQLKAVHEQLAALSQPQQNKPKKKE
KDKKEKKKEKHKRKEEVEENKKSKAKEPPPKKTKKNNSSNSNVSKKEPAPMKSKPPPTYE
SEEEDKCKPMSYEEKRQLSLDINKLPGEKLGRVVHIIQSREPSLKNSNPDEIEIDFETLK
PSTLRELERYVTS
CLRKKRKPQAEKVDVIAGSSKMKGFSSSESESSSESSSSDSEDSETE
MAPKSKKKGHPGREQKKHHHHHHQQMQQAPAPVPQQPPPPPQQPPPPPPPQQQQQPPPPP
PPPSMPQQAAPAMKSSPPPFIATQVPVLEPQLPGSVFDPIGHFTQPILHLPQPELPPHLP
QPPEHSTPPHLNQHAVVSPPALHNALPQQPSRPSNRAAALPPKPARPPAVSPALTQTPLL
PQPPMAQPPQVLLEDEEPPAPPLTSMQMQLYLQQLQKVQPPTPLLPSVKVQSQPPPPLPP
PPHPSVQQQLQQQPPPPPPPQPQPPPQQQHQPPPRPVHLQPMQFSTHIQQPPPPQGQQPP
HPPPGQQPPPPQPAKPQQVIQHHHSPRHHKSDPYSTGHLREAPSPLMIHSPQMSQFQSLT
HQSPPQQNVQPKKQELRAASVVQPQPLVVVKEEKIHSPIIRSEPFSPSLRPEPPKHPESI
KAPVHLPQRPEMKPVDVGRPVIRPPEQNAPPPGAPDKDKQKQEPKTPVAPKKDLKIKNMG
SWASLVQKHPTTPSSTAKSSSDSFEQFRRAAREKEEREKALKAQAEHAEKEKERLRQERM
RSREDEDALEQARRAHEEARRRQEQQQQQRQEQQQQQQQQAAAVAAAATPQAQSSQPQSM
LDQQRELARKREQERRRREAMAATIDMNFQSDLLSIFEENLF
Sequence length 1362
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
74
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cornelia de Lange syndrome 6 Likely pathogenic; Pathogenic rs2512579975, rs2512580369, rs2512711994, rs2512705724, rs868796773, rs2047523428 RCV003448989
RCV003449003
RCV003449004
RCV003764456
RCV003764467
RCV004799341
Cornelia de Lange-like syndrome Likely pathogenic rs2512706092 RCV003225266
De Lange syndrome Pathogenic rs2145497734 RCV002249318
Intellectual disability Pathogenic rs2512703983 RCV002287595
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BRD4-related disorder Likely benign; Benign; Uncertain significance rs746395414, rs577673376, rs199540579, rs147887666, rs570787628, rs55970906, rs201932061, rs145190938, rs747153554, rs202178619, rs777234614, rs200706361, rs149289085, rs187907043, rs200422251
View all (23 more)
RCV003950987
RCV003936571
RCV004754927
RCV003898518
RCV003961161
RCV003936420
RCV003943593
RCV003926545
RCV003943627
RCV003906394
RCV003936465
RCV003906380
RCV003961275
RCV003963486
RCV003963526
RCV003953825
RCV003391549
RCV003397734
RCV003896389
RCV003894310
RCV003904625
RCV003959529
RCV003959555
RCV003939717
RCV003922122
RCV003926945
RCV003944290
RCV003969004
RCV003915866
RCV003933305
RCV004754611
RCV003940450
RCV003940451
RCV003910406
RCV003923157
RCV003942834
RCV003905792
RCV003943255
Cornelia de Lange syndrome 1 Uncertain significance rs2512579961 RCV003388887
Developmental disorder Likely benign rs2145599609 RCV001843778
Gastric cancer Benign; Likely benign rs145190938 RCV005926483
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma of Lung Associate 23129625
Adenoma Islet Cell Stimulate 31492561
Adrenocortical Carcinoma Associate 35765893
Adrenocortical Carcinoma Stimulate 36793283
Alzheimer Disease Associate 35248531
Aortic Aneurysm Abdominal Associate 35096137
Arthritis Rheumatoid Associate 33717143, 35494514
Atherosclerosis Associate 31300040
Autoimmune Diseases Associate 30463877
Breast Neoplasms Associate 19706770, 25001387, 25788266, 26771497, 27651315, 28359301, 28846832, 28981843, 30029633, 31886177, 32321829, 32799413, 33006750, 33099470, 33617509
View all (3 more)