1. Gene
  2. BRD2 - bromodomain containing 2 Gene

BRD2 - bromodomain containing 2 Gene

Homo sapiens

Also known as FSH; NAT; RNF3; FSRG1; RING3; D6S113E; O27.1.1; BRD2-IT1

Gene ID: 6046 | Gene type: protein coding

About BRD2

Cytogenetic location: 6p21.32 Genomic coordinates (GRCh38): 6:32,968,594-32,981,505 (from NCBI)

This gene has 25 transcripts (splice variants), 1 gene allele, 298 orthologues and 11 paralogues. Ubiquitous expression in bone marrow (RPKM 74.5), thyroid (RPKM 55.5) and 25 other tissues.

Summary

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]

BRD2 Products(8)

mRNA Protein Name
NM_001199456.2 NP_001186385.1 bromodomain-containing protein 2 isoform 3
NM_001199455.1 NP_001186384.1 bromodomain-containing protein 2 isoform 2
XM_047419222.1 XP_047275178.1 bromodomain-containing protein 2 isoform X1
NM_001291986.2 NP_001278915.1 bromodomain-containing protein 2 isoform 4
NM_001113182.3 NP_001106653.1 bromodomain-containing protein 2 isoform 1
XM_047419223.1 XP_047275179.1 bromodomain-containing protein 2 isoform X2
NR_037625.1
NM_005104.4 NP_005095.1 bromodomain-containing protein 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables acetylation-dependent protein binding IDA
IDA: Inferred from direct assay
28262505 GOA
enables chromatin binding IDA
IDA: Inferred from direct assay
18406326 GOA
enables lysine-acetylated histone binding IDA
IDA: Inferred from direct assay
17848202 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
20709061 GOA
enables protein serine/threonine kinase activity IDA
IDA: Inferred from direct assay
8595877 GOA
Biological Process GO Annotation Evidence Reference Source
involved in chromatin looping IDA
IDA: Inferred from direct assay
35410381 GOA
involved in nucleosome assembly IMP
IMP: Inferred from mutant phenotype
18406326 GOA
involved in positive regulation of T-helper 17 cell lineage commitment IDA
IDA: Inferred from direct assay
28262505 GOA
involved in protein localization to chromatin IDA
IDA: Inferred from direct assay
28262505 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: Inferred from direct assay
18406326 GOA
Cellular Component GO Annotation Evidence Reference Source
is active in chromatin IDA
IDA: Inferred from direct assay
17848202 GOA
located in nucleus IDA
IDA: Inferred from direct assay
8595877 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

BRD2 Protein Structure

Bromodomain

Bromodomain: Bromodomain (86 - 167)

Bromodomain

Bromodomain: Bromodomain (353 - 441)

  • 0
  • 200
  • 400
  • 600
  • 801 a.a.
Protein Preferred Names Protein Names

bromodomain-containing protein 2

BRD2 intronic transcript 1

female sterile homeotic-related gene 1

really interesting new gene 3 protein

BRD2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
BRD2 P25440 H4C16 Homo sapiens P62805
SPR
20709061
Intra
BRD2 P25440 H4C16 Homo sapiens P62805
X-Ray Diffraction
20709061
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761
IF
24229708
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761
Anti Tag CoIP
24229708
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761
Anti Bait CoIP
24229708
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Epilepsy, Idiopathic Generalized

Idiopathic Generalized Epilepsy

Generalised Epilepsy

Epilepsy, Generalized

EIG

Ige

Epilepsy, Idiopathic Generalized, Susceptibility To, 1

Epilepsy, Idiopathic Generalized 1

Epilepsy, Idiopathic Generalized, Susceptibility To

Epilepsy, Idiopathic, Generalized

Epilepsy, Idiopathic, Generalized, Susceptibility To, Type 1

Photosensitive Epilepsy

Pse

Photogenic Epilepsy

Photoparoxysmal Response

Reflex Epilepsy, Photosensitive

Photoparoxysmal Response 1

Epilepsy, Myoclonic Juvenile

Juvenile Myoclonic Epilepsy

Janz Syndrome

Jme

Myoclonic Epilepsy, Juvenile, Susceptibility To, 1

EJM

Myoclonic Epilepsy, Juvenile

Petit Mal, Impulsive

Myoclonic Epilepsy, Juvenile 1

Myoclonic Epilepsy, Juvenile, 1

Adolescent Myoclonic Epilepsy

Juvenile Myoclonus Epilepsy

Juvenile Myoclonic Epilepsy 1

EJM1

Petit Mal Impulsive

Susceptibility To Juvenile Myoclonic Epilepsy 1

Myoclonic Epilepsy Juvenile

Epilepsy, Myoclonic, Juvenile

Myoclonic Epilepsy Of Janz

Jme - [Juvenile Myoclonic Epilepsy]

Leukemia, Acute Myeloid

Acute Myeloid Leukemia

Leukemia, Acute Myelogenous

Acute Myelogenous Leukemia

AML

Leukemia, Acute Myeloid, Susceptibility To

Acute Myeloblastic Leukemia

Leukemia, Acute Myeloid, Reduced Survival In, Somatic

Acute Myeloid Leukaemia

Leukemia, Myelocytic, Acute

Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

Secondary Aml

Acute Myelocytic Leukemia

Leukemia, Myeloid, Acute

Acute Myeloid Leukemia, Somatic

Leukemia, Acute Myeloid, Somatic

Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

Acute Myeloblastic Leukaemia

Acute Myelogenous Leukaemia

Aml - Acute Myeloid Leukemia

Acute Myeloid Leukemia With Cebpa Somatic Mutations

Aml With Cebpa Somatic Mutations

Inherited Acute Myeloid Leukemia

Familial Aml

Inherited Aml

Pure Familial Aml

Pure Familial Acute Myeloid Leukemia

Secondary Acute Myeloid Leukemia

Therapy-Related Aml And Myelodysplastic Syndrome

Acute Myeloid Leukemia, Secondary

Acute Non-Lymphoblastic Leukemia

Acute Non-Lymphocytic Leukemia

Acute Biphenotypic Leukemia

Acute Undifferentiated Leukemia

Acute Myeloblastic Leukaemia With Multilineage Dysplasia

Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Benign Epilepsy With Centrotemporal Spikes

Benign Rolandic Epilepsy

Rolandic Epilepsy

Epilepsy, Rolandic

Bcects

Benign Childhood Epilepsy With Centrotemporal Spike

Sylvan Seizures

Becrs

Bects

Bre

Benign Epilepsy Of Childhood With Centrotemporal Spikes

Benign Familial Epilepsy Of Childhood With Rolandic Spikes

Centrotemporal Epilepsy

Adolescence-Adult Electroclinical Syndrome
Nut Midline Carcinoma

Nuclear Protein In Testis Midline Carcinoma

Nmc

Epilepsy

Epilepsy Syndrome

Epileptic Syndrome

Epilepsies

Symptomatic Epilepsies

Post Traumatic Epilepsy

Traumatic Epilepsy

Traumatic Epileptic

Epilepsy Due To Hippocampal Sclerosis

Epilepsy With Ammon'S Horn Sclerosis

Epilepsy Due To Cortical Dysplasia

Epilepsy Due To Neuronal Migration Disorders

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Macaca mulatta BRD2 VGNC VGNC:83422
Canis familiaris BRD2 VGNC VGNC:38519
Rattus norvegicus BRD2 RGD RGD:1303324
Mus musculus BRD2 MGD MGI:99495
Bos taurus BRD2 VGNC VGNC:26557