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BRD8 bromodomain containing 8 [ Homo sapiens (human) ]

Gene ID: 10902, updated on 10-Oct-2019

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
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

Genomic context

See BRD8 in Genome Data Viewer
Location:
5q31.2
Exon count:
29
Annotation release Status Assembly Chr Location
109.20190905 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (138139770..138178669, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (137475455..137514358, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 460, pseudogene Neighboring gene NME/NM23 family member 5 Neighboring gene RNA, U6 small nuclear 888, pseudogene Neighboring gene Sharpr-MPRA regulatory region 11877 Neighboring gene kinesin family member 20A Neighboring gene cell division cycle 23 Neighboring gene Sharpr-MPRA regulatory region 7870

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

HIV-1 interactions

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 BioSystems

  • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
    Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
  • Chromatin organization, organism-specific biosystem (from REACTOME)
    Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
  • HATs acetylate histones, organism-specific biosystem (from REACTOME)
    HATs acetylate histones, organism-specific biosystemHistone acetyltransferases (HATs) involved in histone modifications are referred to as A-type or nuclear HATs. They can be grouped into at least four families based on sequence conservation within th...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA-binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
nuclear receptor activity TAS
Traceable Author Statement
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell surface receptor signaling pathway TAS
Traceable Author Statement
more info
PubMed 
histone H2A acetylation IDA
Inferred from Direct Assay
more info
PubMed 
histone H4 acetylation IDA
Inferred from Direct Assay
more info
PubMed 
intracellular receptor signaling pathway IEA
Inferred from Electronic Annotation
more info
 
positive regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of growth IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription by RNA polymerase II TAS
Traceable Author Statement
more info
PubMed 
regulation of transcription, DNA-templated NAS
Non-traceable Author Statement
more info
PubMed 
signal transduction TAS
Traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
NuA4 histone acetyltransferase complex IDA
Inferred from Direct Assay
more info
PubMed 
Swr1 complex IDA
Inferred from Direct Assay
more info
PubMed 
mitochondrion IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus NAS
Non-traceable Author Statement
more info
PubMed 

General protein information

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)

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_001164326.1NP_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/Swiss-Prot
    Q9H0E9
    Related
    ENSP00000394330.2, ENST00000411594.6
    Conserved Domains (1) summary
    cd05507
    Location:712815
    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_001300961.2NP_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, BC008039
    UniProtKB/Swiss-Prot
    Q9H0E9
    UniProtKB/TrEMBL
    B4DN43
    Related
    ENSP00000384845.1, ENST00000402931.5
    Conserved Domains (1) summary
    cd05507
    Location:693796
    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_001300962.2NP_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/Swiss-Prot
    Q9H0E9
    UniProtKB/TrEMBL
    B4DEG9, B4DMS9
    Conserved Domains (1) summary
    cd05507
    Location:668771
    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_001300966.2NP_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/Swiss-Prot
    Q9H0E9
    Conserved Domains (1) summary
    cd05507
    Location:603706
    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_006696.4NP_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/Swiss-Prot
    Q9H0E9
    Related
    ENSP00000230901.5, ENST00000230901.9
    Conserved Domains (1) summary
    cd05507
    Location:782885
    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_139199.2NP_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
    Related
    ENSP00000254900.5, ENST00000254900.9

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    138139770..138178669 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.
Support Center