BRD4 bromodomain containing 4 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRD4provided by HGNC
Official Full Name: bromodomain containing 4provided by HGNC
Primary source: HGNC:HGNC:13575
See related: Ensembl:ENSG00000141867 MIM:608749; AllianceGenome:HGNC:13575
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CAP; MCAP; CDLS6; HUNK1; HUNKI; FSHRG4
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 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]
Expression: Ubiquitous expression in placenta (RPKM 10.8), testis (RPKM 9.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 19p13.12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15235519..15332539, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	19	NC_060943.1 (15360431..15457479, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	19	NC_000019.9 (15346330..15443350, complement)

Chromosome 19 - NC_000019.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

LncRNA GAS5 regulated by FTO-mediated m6A demethylation promotes autophagic cell death in NSCLC by targeting UPF1/BRD4 axis.
Title: LncRNA GAS5 regulated by FTO-mediated m6A demethylation promotes autophagic cell death in NSCLC by targeting UPF1/BRD4 axis.
Molecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion.
Title: Molecular and clinicopathologic characteristics of CNS embryonal tumors with BRD4::LEUTX fusion.
Apoptotic body-inspired nanotherapeutics efficiently attenuate osteoarthritis by targeting BRD4-regulated synovial macrophage polarization.
Title: Apoptotic body-inspired nanotherapeutics efficiently attenuate osteoarthritis by targeting BRD4-regulated synovial macrophage polarization.
Overexpression of BRD4 in Gastric Cancer and its Clinical Significance as a Novel Therapeutic Target.
Title: Overexpression of BRD4 in Gastric Cancer and its Clinical Significance as a Novel Therapeutic Target.
Transcriptional factor BRD4 promotes the stemness of esophageal cancer by activating the nuclear PD-L1/RelB axis.
Title: Transcriptional factor BRD4 promotes the stemness of esophageal cancer by activating the nuclear PD-L1/RelB axis.
Direct interaction with the BRD4 carboxyl-terminal motif (CTM) and TopBP1 is required for human papillomavirus 16 E2 association with mitotic chromatin and plasmid segregation function.
Title: Direct interaction with the BRD4 carboxyl-terminal motif (CTM) and TopBP1 is required for human papillomavirus 16 E2 association with mitotic chromatin and plasmid segregation function.
p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression.
Title: p53 Gain-of-Function Mutation Induces Metastasis via BRD4-Dependent CSF-1 Expression.
BRD4-binding enhancer promotes CRC progression by interacting with YY1 to activate the Wnt pathway through upregulation of TCF7L2.
Title: BRD4-binding enhancer promotes CRC progression by interacting with YY1 to activate the Wnt pathway through upregulation of TCF7L2.
Coinhibition of topoisomerase 1 and BRD4-mediated pause release selectively kills pancreatic cancer via readthrough transcription.
Title: Coinhibition of topoisomerase 1 and BRD4-mediated pause release selectively kills pancreatic cancer via readthrough transcription.
JMJD6-BRD4 complex stimulates lncRNA HOTAIR transcription by binding to the promoter region of HOTAIR and induces radioresistance in liver cancer stem cells.
Title: JMJD6-BRD4 complex stimulates lncRNA HOTAIR transcription by binding to the promoter region of HOTAIR and induces radioresistance in liver cancer stem cells.

Submit: New GeneRIF Correction See all GeneRIFs (355)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Cornelia de Lange syndrome 6 MedGen: CN375871 OMIM: 620568 GeneReviews: Cornelia de Lange Syndrome	not available
De Lange syndrome MedGen: C0270972 GeneReviews: Cornelia de Lange Syndrome	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
HIV-1 replication is inhibited by BRD4; siRNA-mediated knockdown allows for Tat-induced latency reversal	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	The RxL or KxL motif and the polybasic cluster of HIV-1 Tat and BRD4 exhibit similar importance for P-TEFb activation	PubMed
	tat	The C-terminal 34 residues (1329-1362) of BRD4 are crucial for interaction with P-TEFb. Overexpression of the BRD4 P-TEFb-interacting domain disrupts the interaction between HIV-1 Tat and P-TEFb	PubMed
	tat	CDK9-CycT1-AFF1 is stimulated by HIV-1 Tat and transferred as a single complex unit to BRD4 upon stress-induced disruption of AFF1-containing 7SK snRNP (HEXIM1, MEPCE, LARP7, 7SK RNA, CDK9, CycT1, and AFF1)	PubMed
	tat	Phosphorylation of CDK9 at position Ser175 regulates the competition between HIV-1 Tat and BRD4 for P-TEFb binding	PubMed
	tat	Brd4 inhibits HIV-1 Tat-human super elongation complex (components AFF4, ELL2, CycT1, and CDK9) by competing with HIV-1 Tat for binding to P-TEFb on HIV-1 promoter	PubMed
	tat	JQ1, a small molecule inhibitor of Brd4, directly dissociates Brd4 from HIV-1 promoter and promotes subsequently HIV-1 Tat binding to HIV-1 promoter, resulting in increased phosphorylation of RNA polymerase II and viral transcription	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH69303 (e-PCR)
- UniSTS:73824

MARC_6953-6954:992007586:1 (e-PCR)
- UniSTS:231291

MARC_6953-6954:996689872:1 (e-PCR)
- UniSTS:231291

G19768 (e-PCR)
- UniSTS:29337

A001Y01 (e-PCR)
- UniSTS:29338

RH91446 (e-PCR)
- UniSTS:90352

G20884 (e-PCR)
- UniSTS:81145

A006J46 (e-PCR)
- UniSTS:81146

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables P-TEFb complex binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II C-terminal domain binding	IDA Inferred from Direct Assay more info	PubMed
enables RNA polymerase II CTD heptapeptide repeat kinase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables enzyme binding	IPI Inferred from Physical Interaction more info	PubMed
enables histone reader activity	IDA Inferred from Direct Assay more info	PubMed
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables p53 binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transcription coregulator activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage response	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of G2/M transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of T-helper 17 cell lineage commitment	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription elongation by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of transcription elongation by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of inflammatory response	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in condensed nuclear chromosome	IDA Inferred from Direct Assay more info	PubMed
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: bromodomain-containing protein 4

Names: chromosome-associated protein; female sterile homeotic related gene 4; mitotic chromosome-associated protein

NP_001317313.1

EC 3.1.1.31

NP_001366220.1

EC 3.1.1.31

NP_001366221.1

EC 3.1.1.31

NP_055114.1

EC 3.1.1.31

NP_490597.1

EC 3.1.1.31

XP_047294496.1

EC 3.1.1.31

XP_047294497.1

EC 3.1.1.31

XP_047294498.1

EC 3.1.1.31

XP_047294499.1

EC 3.1.1.31

XP_047294500.1

EC 3.1.1.31

XP_054176374.1

EC 3.1.1.31

XP_054176375.1

EC 3.1.1.31

XP_054176376.1

EC 3.1.1.31

XP_054176377.1

EC 3.1.1.31

XP_054176378.1

EC 3.1.1.31

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001330384.2 → NP_001317313.1 bromodomain-containing protein 4 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (short) differs in the 3' UTR and coding region compared to variant long. The resulting isoform (short) is shorter and has a distinct C-terminus compared to isoform long.

Source sequence(s)

AC004798, AC005776, BC035266

Consensus CDS

CCDS82307.1

Related

ENSP00000353112.4, ENST00000360016.9

Conserved Domains (3) summary

cd05497
Location:58 → 164

Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

cd05498
Location:353 → 454

Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

pfam17035
Location:609 → 673

BET; Bromodomain extra-terminal - transcription regulation
NM_001379291.1 → NP_001366220.1 bromodomain-containing protein 4 isoform long

Status: REVIEWED

Source sequence(s)

AC004257, AC004798, AC005776

Consensus CDS

CCDS12328.1

UniProtKB/Swiss-Prot

O60433, O60885, Q4G0X8, Q86YS8, Q96PD3

Related

ENSP00000506350.1, ENST00000679869.1

Conserved Domains (5) summary

cd05497
Location:58 → 164

Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

cd05498
Location:353 → 454

Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

PRK03427
Location:809 → 922

PRK03427; cell division protein ZipA; Provisional

pfam17035
Location:609 → 673

BET; Bromodomain extra-terminal - transcription regulation

pfam17105
Location:1319 → 1362

BRD4_CDT; C-terminal domain of bromodomain protein 4
NM_001379292.1 → NP_001366221.1 bromodomain-containing protein 4 isoform short

Status: REVIEWED

Source sequence(s)

AC004798, AC005776

Consensus CDS

CCDS46004.1

Conserved Domains (3) summary

cd05497
Location:58 → 164

Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

cd05498
Location:353 → 454

Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

pfam17035
Location:609 → 673

BET; Bromodomain extra-terminal - transcription regulation
NM_014299.3 → NP_055114.1 bromodomain-containing protein 4 isoform short

See identical proteins and their annotated locations for NP_055114.1

Status: REVIEWED

Description

Transcript Variant: This variant (short) differs in the 3' UTR and coding region compared to variant long. The resulting isoform (short) is shorter and has a distinct C-terminus compared to isoform long.

Source sequence(s)

AC004798, BC035266, Y12059

Consensus CDS

CCDS46004.1

UniProtKB/Swiss-Prot

O60885

Related

ENSP00000360901.3, ENST00000371835.8

Conserved Domains (3) summary

cd05497
Location:58 → 164

Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

cd05498
Location:353 → 454

Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

pfam17035
Location:609 → 673

BET; Bromodomain extra-terminal - transcription regulation
NM_058243.3 → NP_490597.1 bromodomain-containing protein 4 isoform long

See identical proteins and their annotated locations for NP_490597.1

Status: REVIEWED

Description

Transcript Variant: This variant (long) encodes the full length isoform.

Source sequence(s)

AC004257, AC004798, AF386649, BC035266

Consensus CDS

CCDS12328.1

UniProtKB/Swiss-Prot

O60433, O60885, Q4G0X8, Q86YS8, Q96PD3

Related

ENSP00000263377.1, ENST00000263377.6

Conserved Domains (5) summary

cd05497
Location:58 → 164

Bromo_Brdt_I_like; Bromodomain, Brdt_like subfamily, repeat I. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

cd05498
Location:353 → 454

Bromo_Brdt_II_like; Bromodomain, Brdt_like subfamily, repeat II. Human Brdt is a testis-specific member of the BET subfamily of bromodomain proteins; the first bromodomain in Brdt has been shown to be essential for male germ cell differentiation. Bromodomains are 110 amino ...

PRK03427
Location:809 → 922

PRK03427; cell division protein ZipA; Provisional

pfam17035
Location:609 → 673

BET; Bromodomain extra-terminal - transcription regulation

pfam17105
Location:1319 → 1362

BRD4_CDT; C-terminal domain of bromodomain protein 4

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000019.10 Reference GRCh38.p14 Primary Assembly

Range

15235519..15332539 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047438540.1 → XP_047294496.1 bromodomain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

O60433, O60885, Q4G0X8, Q86YS8, Q96PD3
XM_047438541.1 → XP_047294497.1 bromodomain-containing protein 4 isoform X2
XM_047438543.1 → XP_047294499.1 bromodomain-containing protein 4 isoform X4
XM_047438544.1 → XP_047294500.1 bromodomain-containing protein 4 isoform X4
XM_047438542.1 → XP_047294498.1 bromodomain-containing protein 4 isoform X3

RNA

XR_007066712.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

NC_060943.1 Alternate T2T-CHM13v2.0

Range

15360431..15457479 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054320399.1 → XP_054176374.1 bromodomain-containing protein 4 isoform X1

UniProtKB/Swiss-Prot

O60433, O60885, Q4G0X8, Q86YS8, Q96PD3
XM_054320400.1 → XP_054176375.1 bromodomain-containing protein 4 isoform X2
XM_054320403.1 → XP_054176378.1 bromodomain-containing protein 4 isoform X4
XM_054320402.1 → XP_054176377.1 bromodomain-containing protein 4 isoform X4
XM_054320401.1 → XP_054176376.1 bromodomain-containing protein 4 isoform X3