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BRD8 bromodomain containing 8 [ Homo sapiens (human) ]

Gene ID: 10902, updated on 2-Nov-2024

Summary

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Official Symbol
BRD8provided by HGNC
Official Full Name
bromodomain containing 8provided by HGNC
Primary source
HGNC:HGNC:19874
See related
Ensembl:ENSG00000112983 MIM:602848; AllianceGenome:HGNC:19874
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
SMAP; p120; SMAP2
Summary
The protein encoded by this gene interacts with thyroid hormone receptor in a ligand-dependent manner and enhances thyroid hormone-dependent activation from thyroid response elements. This protein contains a bromodomain and is thought to be a nuclear receptor coactivator. Multiple alternatively spliced transcript variants that encode distinct isoforms have been identified. [provided by RefSeq, Jul 2014]
Expression
Broad expression in testis (RPKM 45.3), brain (RPKM 10.9) and 23 other tissues See more
Orthologs
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Genomic context

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See BRD8 in Genome Data Viewer
Location:
5q31.2
Exon count:
29
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (138139770..138178630, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (138666102..138704922, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137475459..137514319, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 460, pseudogene Neighboring gene RNA, U6 small nuclear 888, pseudogene Neighboring gene MPRA-validated peak5489 silencer Neighboring gene NME/NM23 family member 5 Neighboring gene Sharpr-MPRA regulatory region 11877 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23195 Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23 Neighboring gene Sharpr-MPRA regulatory region 7870 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:137581186-137581778 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23196 Neighboring gene MPRA-validated peak5491 silencer Neighboring gene MPRA-validated peak5492 silencer Neighboring gene GDNF family receptor alpha 3 Neighboring gene RPS27A pseudogene 18

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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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Related articles in PubMed

  1. The Bromodomain Containing 8 (BRD8) transcriptional network in human lung epithelial cells. Browne JA, et al. Mol Cell Endocrinol, 2021 Mar 15. PMID 33476703, Free PMC Article
  2. Cellular Depletion of BRD8 Causes p53-Dependent Apoptosis and Induces a DNA Damage Response in Non-Stressed Cells. Lashgari A, et al. Sci Rep, 2018 Sep 20. PMID 30237520, Free PMC Article
  3. Understanding the role of BRD8 in human carcinogenesis. Yamaguchi K, et al. Cancer Sci, 2024 Sep. PMID 38965933, Free PMC Article
  4. Cloning and sequencing of a human cDNA encoding a putative transcription factor containing a bromodomain. Nielsen MS, et al. Biochim Biophys Acta, 1996 Apr 10. PMID 8611617
  5. BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network. Sun X, et al. Nature, 2023 Jan. PMID 36544023, Free PMC Article

See all (81) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Understanding the role of BRD8 in human carcinogenesis.
    Title: Understanding the role of BRD8 in human carcinogenesis.
  2. BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network.
    Title: BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network.
  3. The Bromodomain Containing 8 (BRD8) transcriptional network in human lung epithelial cells.
    Title: The Bromodomain Containing 8 (BRD8) transcriptional network in human lung epithelial cells.
  4. BRD8, which is negatively regulated by miR-876-3p, promotes the proliferation and apoptosis resistance of hepatocellular carcinoma cells via KAT5.
    Title: BRD8, which is negatively regulated by miR-876-3p, promotes the proliferation and apoptosis resistance of hepatocellular carcinoma cells via KAT5.
  5. Taken together, our results suggest that BRD8 is involved not only in p53-dependent gene suppression, but also in the maintenance of genome stability.
    Title: Cellular Depletion of BRD8 Causes p53-Dependent Apoptosis and Induces a DNA Damage Response in Non-Stressed Cells.
  6. miR-185 can attenuate androgen receptor function indirectly by suppressing BRD8 ISO2
    Title: MiR-185 attenuates androgen receptor function in prostate cancer indirectly by targeting bromodomain containing 8 isoform 2, an androgen receptor co-activator.
  7. incorporation of the histone variant H2A.Z at the promoter regions of PPARgamma target genes by p400/Brd8 is essential to allow fat cell differentiation
    Title: The p400/Brd8 chromatin remodeling complex promotes adipogenesis by incorporating histone variant H2A.Z at PPARγ target genes.
  8. BRD8 expression is associated with tumor progression toward advanced stages
    Title: BRD8 is a potential chemosensitizing target for spindle poisons in colorectal cancer therapy.
  9. SMAP gene family constitutes an important ArfGAP subfamily, with each SMAP member exerting both common and distinct functions in vesicle trafficking.
    Title: SMAP2, a novel ARF GTPase-activating protein, interacts with clathrin and clathrin assembly protein and functions on the AP-1-positive early endosome/trans-Golgi network.
Submit: New GeneRIF Correction

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
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
matrix gag HIV-1 MA downregulates BRD8 gene expression in HepG2 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables nuclear receptor coactivator activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables nuclear thyroid hormone receptor binding IPI
Inferred from Physical Interaction
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
 PubMed 
involved_in cellular response to thyroid hormone stimulus IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in chromatin organization IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of DNA-templated transcription NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in positive regulation of double-strand break repair via homologous recombination 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 regulation of apoptotic process NAS
Non-traceable Author Statement
more info
 PubMed 
involved_in regulation of cell cycle IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in regulation of double-strand break repair NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
part_of NuA4 histone acetyltransferase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of Swr1 complex IDA
Inferred from Direct Assay
more info
 PubMed 
located_in mitochondrion IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
part_of nucleosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
bromodomain-containing protein 8
Names
skeletal muscle abundant protein 2
thyroid hormone receptor coactivating protein of 120 kDa
trCP120

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)

  1. NM_001164326.2 → NP_001157798.1  bromodomain-containing protein 8 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AL704983, BC008039, X94234
    Consensus CDS
    CCDS54907.1
    UniProtKB/TrEMBL
    H7C179
    Related
    ENSP00000394330.2, ENST00000411594.6
    Conserved Domains (1) summary
    cd05507
    Location:712 → 815
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...

  2. NM_001300961.3 → NP_001287890.1  bromodomain-containing protein 8 isoform 5

    See identical proteins and their annotated locations for NP_001287890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 5' coding region and maintains the translation reading frame, compared to variant 1. The resulting isoform (5) has a distinct N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK297756, AL704983
    UniProtKB/TrEMBL
    B4DEG9, B4DN43
    Related
    ENSP00000384845.1, ENST00000402931.5
    Conserved Domains (1) summary
    cd05507
    Location:693 → 796
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...

  3. NM_001300962.3 → NP_001287891.1  bromodomain-containing protein 8 isoform 6

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) lacks two internal exons in the 5' coding region, compared to variant 1. The resulting isoform (6) has a distinct N-terminus and lacks an internal segment, compared to isoform 1.
    Source sequence(s)
    AK293621, AK297608, AL704983, BC008039
    UniProtKB/TrEMBL
    B4DEG9
    Conserved Domains (1) summary
    cd05507
    Location:668 → 771
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...

  4. NM_001300966.3 → NP_001287895.1  bromodomain-containing protein 8 isoform 7

    See identical proteins and their annotated locations for NP_001287895.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) has an alternate splice site in the 5' region, which results in an alternate translation start codon, and has an alternate splice site in the central region and also lacks an in-frame exon in the 3' region, compared to variant 1. The resulting isoform (7) has a shorter and distinct N-terminus and lacks two internal segments, compared to isoform 1.
    Source sequence(s)
    AL704983, BC008039, X87613
    UniProtKB/TrEMBL
    H7C127
    Conserved Domains (1) summary
    cd05507
    Location:603 → 706
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...

  5. NM_006696.5 → NP_006687.3  bromodomain-containing protein 8 isoform 1

    See identical proteins and their annotated locations for NP_006687.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the predominant transcript and it encodes isoform 1.
    Source sequence(s)
    BC008039, BU187982
    Consensus CDS
    CCDS34241.1
    UniProtKB/TrEMBL
    A8K1N6
    Related
    ENSP00000230901.5, ENST00000230901.9
    Conserved Domains (1) summary
    cd05507
    Location:782 → 885
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...

  6. NM_139199.2 → NP_631938.2  bromodomain-containing protein 8 isoform 2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple coding region differences, compared to variant 1. The resulting isoform (2) has a longer, and a different C-terminus, compared to isoform 1.
    Source sequence(s)
    AC109442, AC113382
    Consensus CDS
    CCDS4198.1
    UniProtKB/Swiss-Prot
    O43178, Q15355, Q58AB0, Q59GN0, Q969M9, Q9H0E9
    Related
    ENSP00000254900.5, ENST00000254900.10
    Conserved Domains (2) summary
    cd05507
    Location:709 → 812
    Bromo_brd8_like; Bromodomain, brd8_like subgroup. In mammals, brd8 (bromodomain containing 8) interacts with the thyroid hormone receptor in a ligand-dependent fashion and enhances thyroid hormone-dependent activation from thyroid response elements. Brd8 is thought to be ...
    TIGR03835
    Location:302 → 681
    termin_org_DnaJ; terminal organelle assembly protein TopJ

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

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    138139770..138178630 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    138666102..138704922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_183359.1: Suppressed sequence

    Description
    NM_183359.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9H0E9.2 GenPept UniProtKB/Swiss-Prot:Q9H0E9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
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