BRD3 bromodomain containing 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: BRD3provided by HGNC
Official Full Name: bromodomain containing 3provided by HGNC
Primary source: HGNC:HGNC:1104
See related: Ensembl:ENSG00000169925 MIM:601541; AllianceGenome:HGNC:1104
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: ORFX; FSHRG2; RING3L
Summary: This gene was identified based on its homology to the gene encoding the RING3 protein, a serine/threonine kinase. The gene localizes to 9q34, a region which contains several major histocompatibility complex (MHC) genes. The function of the encoded protein is not known. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 8.0), brain (RPKM 7.5) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 9q34.2

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	9	NC_000009.12 (134030305..134068548, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	9	NC_060933.1 (146246241..146284500, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	9	NC_000009.11 (136895427..136933148, complement)

Chromosome 9 - NC_000009.12 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 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?

Tumor suppressive role of the epigenetic master regulator BRD3 in colorectal cancer.
Title: Tumor suppressive role of the epigenetic master regulator BRD3 in colorectal cancer.
Targeting BRD3 eradicates nuclear TYRO3-induced colorectal cancer metastasis.
Title: Targeting BRD3 eradicates nuclear TYRO3-induced colorectal cancer metastasis.
Kinome-wide screening uncovers a role for Bromodomain Protein 3 in DNA double-stranded break repair.
Title: Kinome-wide screening uncovers a role for Bromodomain Protein 3 in DNA double-stranded break repair.
Epigenetic readers and lung cancer: the rs2427964C>T variant of the bromodomain and extraterminal domain gene BRD3 is associated with poorer survival outcome in NSCLC.
Title: Epigenetic readers and lung cancer: the rs2427964C>T variant of the bromodomain and extraterminal domain gene BRD3 is associated with poorer survival outcome in NSCLC.
A common binding motif in the ET domain of BRD3 forms polymorphic structural interfaces with host and viral proteins.
Title: A common binding motif in the ET domain of BRD3 forms polymorphic structural interfaces with host and viral proteins.
BCL6 confers KRAS-mutant non-small-cell lung cancer resistance to BET inhibitors.
Title: BCL6 confers KRAS-mutant non-small-cell lung cancer resistance to BET inhibitors.
Comparative structure-function analysis of bromodomain and extraterminal motif (BET) proteins in a gene-complementation system.
Title: Comparative structure-function analysis of bromodomain and extraterminal motif (BET) proteins in a gene-complementation system.
BRD3 is recruited to and controls the activity of a subset ERa transcriptional enhancers, providing a therapeutic opportunity to target BRD3 with BET inhibitors in ERa-positive breast cancers.
Title: Distinct Roles for BET Family Members in Estrogen Receptor α Enhancer Function and Gene Regulation in Breast Cancer Cells.
This study presents the first co-crystal structure of SPOP and a bromodomain containing protein (BRD3).
Title: Structural Insights into BET Client Recognition of Endometrial and Prostate Cancer-Associated SPOP Mutants.
The BET proteins Brd3 and Brd4 were shown to bind to the NOX4 promoter and drive TGF-beta-induced NOX4 expression. Our data indicate a critical role of BET proteins in promoting redox imbalance and pulmonary myofibroblast activation and support BET bromodomain inhibitors as a potential therapy for fibrotic lung disease.
Title: Bromodomain and Extraterminal (BET) Protein Inhibition Restores Redox Balance and Inhibits Myofibroblast Activation.

Submit: New GeneRIF Correction See all GeneRIFs (24)

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

EBI GWAS Catalog

Description
New gene functions in megakaryopoiesis and platelet formation. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D9S1018E (e-PCR)
- UniSTS:21781

STS-W74619 (e-PCR)
- UniSTS:47933

D9S1348 (e-PCR)
- UniSTS:153152

G20827 (e-PCR)
- UniSTS:35412

A006H47 (e-PCR)
- UniSTS:35413

D11S4285 (e-PCR)
- UniSTS:51824

RH102366 (e-PCR)
- UniSTS:96700

D9S2059 (e-PCR)
- UniSTS:57800

STS-D26362 (e-PCR)
- UniSTS:22477

RH25279 (e-PCR)
- UniSTS:34785

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables histone binding	IBA Inferred from Biological aspect of Ancestor more info
enables lncRNA binding	IDA Inferred from Direct Assay more info	PubMed
enables lysine-acetylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular condensate scaffold activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein serine/threonine kinase activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in chromatin remodeling	IBA Inferred from Biological aspect of Ancestor more info
involved_in endodermal cell differentiation	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 protein localization to chromatin	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in chromatin	IBA Inferred from Biological aspect of Ancestor more info
is_active_in chromatin	IDA Inferred from Direct Assay more info	PubMed
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor 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 3

Names: RING3-like protein; female sterile homeotic related gene 2

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_007371.4 → NP_031397.1 bromodomain-containing protein 3

See identical proteins and their annotated locations for NP_031397.1

Status: REVIEWED

Source sequence(s)

AA766480, AK026880, AK123322, AL591386, BC010699, BI545861, D26362, DW413353

Consensus CDS

CCDS6980.1

UniProtKB/Swiss-Prot

B1APD9, Q15059, Q4G5Y3, Q5T1R7, Q8N5M3, Q92645

Related

ENSP00000305918.6, ENST00000303407.12

Conserved Domains (3) summary

cd05497
Location:34 → 140

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:311 → 412

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:571 → 635

BET; Bromodomain extra-terminal - transcription regulation

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000009.12 Reference GRCh38.p14 Primary Assembly

Range

134030305..134068548 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047423906.1 → XP_047279862.1 bromodomain-containing protein 3 isoform X2
XM_047423903.1 → XP_047279859.1 bromodomain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

B1APD9, Q15059, Q4G5Y3, Q5T1R7, Q8N5M3, Q92645
XM_047423905.1 → XP_047279861.1 bromodomain-containing protein 3 isoform X2
XM_006717291.4 → XP_006717354.1 bromodomain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_006717354.1

UniProtKB/Swiss-Prot

B1APD9, Q15059, Q4G5Y3, Q5T1R7, Q8N5M3, Q92645

Conserved Domains (3) summary

cd05497
Location:34 → 140

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:311 → 412

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:571 → 635

BET; Bromodomain extra-terminal - transcription regulation
XM_017015165.3 → XP_016870654.1 bromodomain-containing protein 3 isoform X2

Conserved Domains (3) summary

cd05497
Location:34 → 140

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:311 → 412

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:571 → 635

BET; Bromodomain extra-terminal - transcription regulation
XM_047423904.1 → XP_047279860.1 bromodomain-containing protein 3 isoform X1

UniProtKB/Swiss-Prot

B1APD9, Q15059, Q4G5Y3, Q5T1R7, Q8N5M3, Q92645
XM_011519052.3 → XP_011517354.1 bromodomain-containing protein 3 isoform X1

See identical proteins and their annotated locations for XP_011517354.1

UniProtKB/Swiss-Prot

B1APD9, Q15059, Q4G5Y3, Q5T1R7, Q8N5M3, Q92645

Conserved Domains (3) summary

cd05497
Location:34 → 140

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:311 → 412

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:571 → 635

BET; Bromodomain extra-terminal - transcription regulation