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; HUNK1; HUNKI
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
NEW: Try the new Gene table
Try the new Transcript table

Genomic context

Location:: 19p13.12

Exon count:: 26

Annotation release	Status	Assembly	Chr	Location
110	current	GRCh38.p14 (GCF_000001405.40)	19	NC_000019.10 (15235519..15332539, complement)
110	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

Go to the top of the page Help

Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

Go to the top of the page Help

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

Go to the top of the page Help

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

BRD4 is involved in viral exacerbation of chronic obstructive pulmonary disease.
Title: BRD4 is involved in viral exacerbation of chronic obstructive pulmonary disease.
Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.
Title: Structural mechanism of BRD4-NUT and p300 bipartite interaction in propagating aberrant gene transcription in chromatin in NUT carcinoma.
LncRNA HOTTIP promotes inflammatory response in acute gouty arthritis via miR-101-3p/BRD4 axis.
Title: LncRNA HOTTIP promotes inflammatory response in acute gouty arthritis via miR-101-3p/BRD4 axis.
Regulation of programmed cell death by Brd4.
Title: Regulation of programmed cell death by Brd4.
Arginine methylation of BRD4 by PRMT2/4 governs transcription and DNA repair.
Title: Arginine methylation of BRD4 by PRMT2/4 governs transcription and DNA repair.
EGFR-induced suppression of HPV E6/E7 is mediated by microRNA-9-5p silencing of BRD4 protein in HPV-positive head and neck squamous cell carcinoma.
Title: EGFR-induced suppression of HPV E6/E7 is mediated by microRNA-9-5p silencing of BRD4 protein in HPV-positive head and neck squamous cell carcinoma.
Retinoblastoma protein as an intrinsic BRD4 inhibitor modulates small molecule BET inhibitor sensitivity in cancer.
Title: Retinoblastoma protein as an intrinsic BRD4 inhibitor modulates small molecule BET inhibitor sensitivity in cancer.
Influence of Shear Stress, Inflammation and BRD4 Inhibition on Human Endothelial Cells: A Holistic Proteomic Approach.
Title: Influence of Shear Stress, Inflammation and BRD4 Inhibition on Human Endothelial Cells: A Holistic Proteomic Approach.
BET-ting on histone proteomics in schizophrenia.
Title: BET-ting on histone proteomics in schizophrenia.
LINC01061 triggers inflammation and inflammasome activation in autoimmune thyroiditis via microRNA-612/BRD4 axis.
Title: LINC01061 triggers inflammation and inflammasome activation in autoimmune thyroiditis via microRNA-612/BRD4 axis.

Submit: New GeneRIF Correction See all GeneRIFs (329)

Phenotypes

Go to the top of the page Help

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
De Lange syndrome MedGen: C0270972 GeneReviews: Cornelia de Lange Syndrome	Compare labs

Variation

Go to the top of the page Help

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

Go to the top of the page Help

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

Go to the top of the page Help

Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

Go to the top of the page Help

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

Homology

Orthologs from Annotation Pipeline: 290 organisms have orthologs with human gene BRD4
Orthologs

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-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in cellular response to DNA damage stimulus	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 I-kappaB kinase/NF-kappaB signaling	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 involved in G1/S transition of mitotic cell cycle	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

Go to the top of the page Help

Preferred Names: bromodomain-containing protein 4

Names: chromosome-associated protein; 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

NCBI Reference Sequences (RefSeq)

Go to the top of the page Help

NEW Try the new Transcript table

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

UniProtKB/Swiss-Prot

O60885

UniProtKB/TrEMBL

A0A024R7H8

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

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

O60885, 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: Homo sapiens Annotation Release 110 details...

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

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

UniProtKB/TrEMBL

A0A024R7H8