Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23476
Gene name Gene Name - the full gene name approved by the HGNC.
Bromodomain containing 4
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
BRD4
Synonyms (NCBI Gene) Gene synonyms aliases
CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
NPM1 Unknown 24220271
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
608749 13575 ENSG00000141867
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Cornelia De Lange Syndrome Cornelia de Lange syndrome 6, Cornelia de Lange syndrome N/A N/A GenCC
Mental retardation syndromic intellectual disability N/A N/A GenCC
Multiple Congenital Anomalies multiple congenital anomalies/dysmorphic syndrome N/A N/A GenCC
Associations from Text Mining Disease 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
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