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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
29
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Cornelia de Lange syndrome 6 Likely pathogenic; Pathogenic rs2512579975, rs2512580369, rs2512711994, rs2512705724, rs868796773, rs2047523428 RCV003448989
RCV003449003
RCV003449004
RCV003764456
RCV003764467
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cornelia de Lange-like syndrome Likely pathogenic rs2512706092 RCV003225266
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
De Lange syndrome Pathogenic rs2145497734 RCV002249318
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability Pathogenic rs2512703983 RCV002287595
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BRD4-related disorder Likely benign; Benign; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLONIC NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORNELIA DE LANGE SYNDROME Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
Disgenet, GWAS catalog, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cornelia de Lange syndrome 1 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute leukemia Leukemia BEFREE 29456727
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 30552662, 31220668
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 35765893 Associate
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 36793283 Stimulate
★☆☆☆☆
Found in Text Mining only
Adult Acute Myeloblastic Leukemia Myeloblastic Leukemia BEFREE 23249862
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma CTD_human_DG 24231268
★☆☆☆☆
Found in Text Mining only
Adult Medulloblastoma Medulloblastoma BEFREE 24796395, 26814967, 30611741, 31594641
★☆☆☆☆
Found in Text Mining only
Allergic sensitization Allergic Sensitization BEFREE 28477791
★☆☆☆☆
Found in Text Mining only
Alopecia Alopecia CTD_human_DG 25242322
★☆☆☆☆
Found in Text Mining only
Alopecia, Male Pattern Alopecia, Male Pattern CTD_human_DG 25242322
★☆☆☆☆
Found in Text Mining only