1. Gene
  2. BRD2 - bromodomain containing 2 Gene

BRD2 - bromodomain containing 2 Gene

中文名称:含溴结构域 2

种属: Homo sapiens

同用名: FSH; NAT; RNF3; FSRG1; RING3; D6S113E; O27.1.1; BRD2-IT1

基因 ID: 6046 | 基因类型: protein coding

关于 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.

功能概要

该基因编码属于 BET (溴结构域和额外末端结构域) 蛋白质家族的转录调节因子。这种蛋白质在有丝分裂过程中与转录复合物和乙酰化染色质结合,并通过其两个溴结构域选择性地结合组蛋白 H4 的乙酰化赖氨酸 12 残基。该基因映射到染色体 6p21.3 上的主要组织相容性复合体 (MHC) II 类区域,但序列比较表明该蛋白质不参与免疫反应。该基因与青少年肌阵挛性癫痫有关,这是一种常见的癫痫形式,在青春期变得明显。已经描述了该基因的多个可变剪接变体。[RefSeq 提供,2010 年 12 月]

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 基因产物(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
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables acetylation-dependent protein binding IDA
IDA: 通过直接分析推断
28262505 GOA
enables chromatin binding IDA
IDA: 通过直接分析推断
18406326 GOA
enables lysine-acetylated histone binding IDA
IDA: 通过直接分析推断
17848202 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
20709061 GOA
enables protein serine/threonine kinase activity IDA
IDA: 通过直接分析推断
8595877 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in chromatin looping IDA
IDA: 通过直接分析推断
35410381 GOA
involved in nucleosome assembly IMP
IMP: 通过突变表型推断
18406326 GOA
involved in positive regulation of T-helper 17 cell lineage commitment IDA
IDA: 通过直接分析推断
28262505 GOA
involved in protein localization to chromatin IDA
IDA: 通过直接分析推断
28262505 GOA
involved in regulation of transcription by RNA polymerase II IDA
IDA: 通过直接分析推断
18406326 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
is active in chromatin IDA
IDA: 通过直接分析推断
17848202 GOA
located in nucleus IDA
IDA: 通过直接分析推断
8595877 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

BRD2 蛋白结构

Bromodomain

Bromodomain: Bromodomain (86 - 167)

Bromodomain

Bromodomain: Bromodomain (353 - 441)

  • 0
  • 200
  • 400
  • 600
  • 801 a.a.
蛋白主名 其他名称

bromodomain-containing protein 2

BRD2 intronic transcript 1

female sterile homeotic-related gene 1

really interesting new gene 3 protein

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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