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BRD4 (bromodomain containing 4)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23476
Gene nameGene Name - the full gene name approved by the HGNC.
Bromodomain containing 4
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
BRD4
SynonymsGene synonyms aliases
CAP, CDLS6, FSHRG4, HUNK1, HUNKI, MCAP
ChromosomeChromosome number
19
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19p13.12
SummarySummary 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
SNPsSNP 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
miRNAmiRNA 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:0000083 Process Regulation of transcription involved in G1/S transition of mitotic cell cycle IMP 18039861
GO:0000794 Component Condensed nuclear chromosome IDA 10938129
GO:0002039 Function P53 binding IDA 23317504
GO:0003682 Function Chromatin binding IDA 20871596, 23086925, 23317504
GO:0003712 Function Transcription coregulator activity IMP 24360279
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
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
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
Causal
Disease name Disease term dbSNP ID References
Carcinoma NUT midline carcinoma rs121912654, rs555607708, rs786202962, rs1564055259 22017582
Colonic neoplasms Malignant tumor of colon, Colonic Neoplasms rs267607789, rs774277300, rs781222233, rs1060502734, rs1060503333, rs1339238483 26752646
Congenital heart defects Congenital Heart Defects rs267607101, rs121434422, rs387906498, rs397509416, rs587777371, rs587777372, rs587777374, rs367537998, rs797044882, rs886041730, rs768027510, rs1064793873, rs1555447012, rs1554263268, rs1554263321, rs1555223294, rs782051102, rs1555896779, rs1555896778, rs1555897088, rs374016704, rs1555446983, rs1479104927, rs1562443558, rs755445139, rs1581616817, rs1581655293, rs1899172049 30302754
Congenital muscular hypertrophy-cerebral syndrome Congenital muscular hypertrophy-cerebral syndrome rs1602407457, rs122454122, rs122454123, rs387906702, rs587784419, rs587784418, rs587784416, rs587784415, rs587784412, rs587784410, rs587784409, rs587784408, rs587784407, rs587784406, rs587784404, rs587784403, rs587784423, rs587784421, rs587784420, rs727503773, rs863225459, rs863225458, rs797044896, rs797045069, rs797045993, rs797045992, rs886044819, rs1057518670, rs1057519499, rs1057519398, rs1556889269, rs1556890135, rs1556886034, rs1556889236, rs1569356550, rs1569356555, rs1569358628, rs1569359048, rs1569359535, rs1569359540, rs1556890815, rs1556886127, rs1556886124, rs1556892359, rs1569351341, rs1569351534, rs1569351907, rs1569356968, rs1602404847, rs1602411858, rs1602409271, rs1602398950, rs1602405588, rs1602410098, rs868985177, rs1602413582, rs1556885810, rs1602410239, rs1556887759, rs2075587887, rs2075680329, rs2075685944, rs2075701790, rs2075725792, rs2075725850 29379197
Unknown
Disease name Disease term dbSNP ID References
Alopecia Alopecia 25242322
Alopecia, male pattern Alopecia, Male Pattern 25242322
Androgenetic alopecia Androgenetic Alopecia 25242322
Ewing sarcoma Ewings sarcoma

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