Human Gene BRD2 (uc011hft.2) Description and Page Index
Description: Homo sapiens bromodomain containing 2 (BRD2), transcript variant 2, mRNA. RefSeq Summary (NM_001113182): This gene encodes a transcriptional regulator that belongs to the BET (bromodomains and extra terminal domain) family of proteins. This protein associates with transcription complexes and with acetylated chromatin during mitosis, and it selectively binds to the acetylated lysine-12 residue of histone H4 via its two bromodomains. The gene maps to the major histocompatability complex (MHC) class II region on chromosome 6p21.3, but sequence comparison suggests that the protein is not involved in the immune response. This gene has been implicated in juvenile myoclonic epilepsy, a common form of epilepsy that becomes apparent in adolescence. Multiple alternatively spliced variants have been described for this gene. [provided by RefSeq, Dec 2010]. Transcript (Including UTRs) Position: chr6_mann_hap4:4,395,892-4,406,503 Size: 10,612 Total Exon Count: 13 Strand: + Coding Region Position: chr6_mann_hap4:4,397,903-4,405,716 Size: 7,814 Coding Exon Count: 12
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Comments and Description Text from UniProtKB
ID:BRD2_HUMAN DESCRIPTION: RecName: Full=Bromodomain-containing protein 2; AltName: Full=O27.1.1; AltName: Full=Really interesting new gene 3 protein; FUNCTION: May play a role in spermatogenesis or folliculogenesis (By similarity). Binds hyperacetylated chromatin and plays a role in the regulation of transcription, probably by chromatin remodeling. Regulates transcription of the CCND1 gene. Plays a role in nucleosome assembly. SUBUNIT: Homodimer. Interacts with E2F1 and with histone H4 acetylated at 'Lys-13'. INTERACTION: P62805:HIST2H4B; NbExp=5; IntAct=EBI-2874802, EBI-302023; SUBCELLULAR LOCATION: Nucleus (Probable). Note=Detected on chromatin and nucleosomes. DOMAIN: One bromodomain is sufficient for a partial interaction with histone H4 acetylated at 'Lys-13'. SIMILARITY: Contains 2 bromo domains. SIMILARITY: Contains 1 NET domain. SEQUENCE CAUTION: Sequence=AAA68890.1; Type=Erroneous initiation;
Genetic Association Studies of Complex Diseases and Disorders
Asthma Tomomitsu Hirota et al. Nature genetics 2011, Genome-wide association study identifies three new susceptibility loci for adult asthma in the Japanese population., Nature genetics.
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.
ModBase Predicted Comparative 3D Structure on P25440
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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.