BRD8 bromodomain containing 8 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000005.10 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: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Understanding the role of BRD8 in human carcinogenesis.
Title: Understanding the role of BRD8 in human carcinogenesis.
BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network.
Title: BRD8 maintains glioblastoma by epigenetic reprogramming of the p53 network.
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.
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.
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.
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.
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.
BRD8 expression is associated with tumor progression toward advanced stages
Title: BRD8 is a potential chemosensitizing target for spindle poisons in colorectal cancer therapy.
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.

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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 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)

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D11S2921 (e-PCR)
- UniSTS:152074

SHGC-132052 (e-PCR)
- UniSTS:170617

D5S2603 (e-PCR)
- UniSTS:23987

RH99254 (e-PCR)
- UniSTS:86981

G20870 (e-PCR)
- UniSTS:7116

A006J23 (e-PCR)
- UniSTS:7117

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)

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 ...
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 ...
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 ...
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 ...
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 ...
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

NC_000005.10 Reference GRCh38.p14 Primary Assembly

Range

138139770..138178630 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

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

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.