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BRD8 bromodomain containing 8 [ Homo sapiens (human) ]

Gene ID: 10902, updated on 19-Sep-2024

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

EBI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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 
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

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)

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)

  1. NM_001164326.2NP_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: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_001300961.3NP_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: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_001300962.3NP_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: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_001300966.3NP_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: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_006696.5NP_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: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
    UniProtKB/Swiss-Prot
    O43178, Q15355, Q58AB0, Q59GN0, Q969M9, Q9H0E9
    Related
    ENSP00000254900.5, ENST00000254900.10
    Conserved Domains (2) summary
    cd05507
    Location:709812
    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:302681
    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.