Human Gene BRD8 (ENST00000254900.10_6) from GENCODE V47lift37
  Description: bromodomain containing 8, transcript variant 2 (from RefSeq NM_139199.2)
Gencode Transcript: ENST00000254900.10_6
Gencode Gene: ENSG00000112983.18_14
Transcript (Including UTRs)
   Position: hg19 chr5:137,475,459-137,514,319 Size: 38,861 Total Exon Count: 27 Strand: -
Coding Region
   Position: hg19 chr5:137,475,763-137,514,303 Size: 38,541 Coding Exon Count: 27 

Page IndexSequence and LinksUniProtKB CommentsPrimersCTDGene Alleles
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr5:137,475,459-137,514,319)mRNA (may differ from genome)Protein (1235 aa)
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-  Comments and Description Text from UniProtKB
  ID: BRD8_HUMAN
DESCRIPTION: RecName: Full=Bromodomain-containing protein 8; AltName: Full=Skeletal muscle abundant protein; AltName: Full=Skeletal muscle abundant protein 2; AltName: Full=Thyroid hormone receptor coactivating protein of 120 kDa; Short=TrCP120; AltName: Full=p120;
FUNCTION: May act as a coactivator during transcriptional activation by hormone-activated nuclear receptors (NR). Isoform 2 stimulates transcriptional activation by AR/DHTR, ESR1/NR3A1, RXRA/NR2B1 and THRB/ERBA2. At least isoform 1 and isoform 2 are components of the NuA4 histone acetyltransferase (HAT) complex which is involved in transcriptional activation of select genes principally by acetylation of nucleosomal histones H4 and H2A. This modification may both alter nucleosome - DNA interactions and promote interaction of the modified histones with other proteins which positively regulate transcription. This complex may be required for the activation of transcriptional programs associated with oncogene and proto-oncogene mediated growth induction, tumor suppressor mediated growth arrest and replicative senescence, apoptosis, and DNA repair. NuA4 may also play a direct role in DNA repair when recruited to sites of DNA damage.
SUBUNIT: Component of the NuA4 histone acetyltransferase complex which contains the catalytic subunit KAT5/TIP60 and the subunits EP400, TRRAP/PAF400, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, ING3, actin, ACTL6A/BAF53A, MORF4L1/MRG15, MORF4L2/MRGX, MRGBP, YEATS4/GAS41, VPS72/YL1 and MEAF6. The NuA4 complex interacts with MYC and the adenovirus E1A protein. Component of a NuA4-related complex which contains EP400, TRRAP/PAF400, SRCAP, BRD8/SMAP, EPC1, DMAP1/DNMAP1, RUVBL1/TIP49, RUVBL2, actin, ACTL6A/BAF53A, VPS72 and YEATS4/GAS41. BRD8 isoform 2 interacts with RXRA/NR2B1 and THRB/ERBA2 (By similarity).
SUBCELLULAR LOCATION: Nucleus.
TISSUE SPECIFICITY: Expressed in adipose tissue, brain, heart, kidney, liver, lung, pancreas, placenta and skeletal muscle.
SIMILARITY: Contains 2 bromo domains.
CAUTION: It is uncertain whether Met-1 or Met-32 is the initiator.
SEQUENCE CAUTION: Sequence=AAB87858.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08039.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAH08076.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=CAA63925.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 63.25 RPKM in Testis
Total median expression: 733.58 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR 0.00160.000 Picture PostScript Text
3' UTR -56.60304-0.186 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001487 - Bromodomain

Pfam Domains:
PF00439 - Bromodomain

SCOP Domains:
47370 - Bromodomain
55031 - Bacterial exopeptidase dimerisation domain

ModBase Predicted Comparative 3D Structure on Q9H0E9
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0004887 thyroid hormone receptor activity
GO:0005515 protein binding

Biological Process:
GO:0006325 chromatin organization
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007165 signal transduction
GO:0007166 cell surface receptor signaling pathway
GO:0030522 intracellular receptor signaling pathway
GO:0040008 regulation of growth
GO:0043967 histone H4 acetylation
GO:0043968 histone H2A acetylation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter

Cellular Component:
GO:0000812 Swr1 complex
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005739 mitochondrion
GO:0035267 NuA4 histone acetyltransferase complex


-  Descriptions from all associated GenBank mRNAs
  X94234 - H.sapiens mRNA for skeletal muscle abundant protein 2.
AL136823 - Homo sapiens mRNA; cDNA DKFZp434P2326 (from clone DKFZp434P2326).
BC008039 - Homo sapiens bromodomain containing 8, mRNA (cDNA clone MGC:1283 IMAGE:3009915), complete cds.
BC008076 - Homo sapiens bromodomain containing 8, mRNA (cDNA clone MGC:3524 IMAGE:3009915), complete cds.
AK124191 - Homo sapiens cDNA FLJ42197 fis, clone THYMU2034314.
AK289951 - Homo sapiens cDNA FLJ78370 complete cds, highly similar to Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA.
AK225928 - Homo sapiens mRNA for Skeletal muscle abundant protein 2 variant, clone: FCC117G12.
AK297608 - Homo sapiens cDNA FLJ59577 complete cds, highly similar to Bromodomain-containing protein 8.
AF016270 - Homo sapiens thyroid hormone receptor coactivating protein mRNA, complete cds.
X87613 - H.sapiens mRNA for skeletal muscle abundant protein.
AK297756 - Homo sapiens cDNA FLJ58202 complete cds, highly similar to Bromodomain-containing protein 8.
AK293621 - Homo sapiens cDNA FLJ58448 complete cds, highly similar to Bromodomain-containing protein 8.
AB209079 - Homo sapiens mRNA for bromodomain containing 8 isoform 1 variant protein.
AK299694 - Homo sapiens cDNA FLJ58241 complete cds, highly similar to Homo sapiens bromodomain containing 8 (BRD8), transcript variant 1, mRNA.
AK312333 - Homo sapiens cDNA, FLJ92650, highly similar to Homo sapiens bromodomain containing 8 (BRD8), mRNA.
KJ902173 - Synthetic construct Homo sapiens clone ccsbBroadEn_11567 BRD8 gene, encodes complete protein.
AB384833 - Synthetic construct DNA, clone: pF1KB3680, Homo sapiens BRD8 gene for bromodomain-containing protein 8, complete cds, without stop codon, in Flexi system.
CU675905 - Synthetic construct Homo sapiens gateway clone IMAGE:100017844 5' read BRD8 mRNA.
AK310380 - Homo sapiens cDNA, FLJ17422.
JD563461 - Sequence 544485 from Patent EP1572962.
JD440531 - Sequence 421555 from Patent EP1572962.
JD538553 - Sequence 519577 from Patent EP1572962.
JD147739 - Sequence 128763 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9H0E9 (Reactome details) participates in the following event(s):

R-HSA-3321975 NuA4 complex acetylates histone H2A, HIST1H4
R-NUL-4551334 NuA4 complex actetylates H2A and H4
R-HSA-3214847 HATs acetylate histones
R-HSA-3247509 Chromatin modifying enzymes
R-HSA-4839726 Chromatin organization

-  Other Names for This Gene
  Alternate Gene Symbols: BRD8_HUMAN, ENST00000254900.1, ENST00000254900.2, ENST00000254900.3, ENST00000254900.4, ENST00000254900.5, ENST00000254900.6, ENST00000254900.7, ENST00000254900.8, ENST00000254900.9, NM_139199, O43178, Q15355, Q58AB0, Q59GN0, Q969M9, Q9H0E9, SMAP, SMAP2, uc317fqc.1, uc317fqc.2
UCSC ID: ENST00000254900.10_6
RefSeq Accession: NM_139199.2
Protein: Q9H0E9 (aka BRD8_HUMAN)

-  Gene Model Information
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-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.