BRD2 - bromodomain containing 2 Gene

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

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 6046

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
Molecular Function GO Annotation Evidence References 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 References 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 References 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 References
Intra
BRD2 P25440 H4C16 Homo sapiens P62805
SPR
20709061
Intra
BRD2 P25440 H4C16 Homo sapiens P62805 20709061
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761
IF
24229708
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761 24229708
Intra
BRD2 P25440 RUNX3 Homo sapiens Q13761 24229708
Cross: Cross-species interaction Intra: Intraspecies interaction

BRD2 Antibodies

Cat. No. Product Name Application Reactivity
HY-P80037 BRD2 Antibody (YA579) WB, IHC-P, IHC-F, ICC/IF, IF-Tissue, FC Human
HY-P84213 BRD2 Antibody (YA3910) WB, FC, ELISA Human, Rat
HY-P84213A BRD2 Antibody (YA3910)(PBS only) WB, FC, ELISA Human, Rat

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
Others BRD2 NCBI