BRAF (B-Raf proto-oncogene, serine/threonine kinase)

基因基本信息

基因基本信息

symbol:
BRAF
locus group:
protein-coding gene
location:
7q34
gene_family:
alias symbol:
BRAF1|BRAF-1
alias name:
None
entrez id:
673
ensembl gene id:
ENSG00000157764
ucsc gene id:
uc003vwc.5
refseq accession:
NM_004333
hgnc_id:
HGNC:1097
approved reserved:
1991-07-16

基因染色体位置

基因染色体位置

7q34
基因染色体位置图

基因简述

基因简述

BRAF基因属于RAF基因家族，该家族包括ARAF、BRAF和CRAF（RAF1），它们编码丝氨酸/苏氨酸蛋白激酶，参与调控MAPK/ERK信号通路（细胞生长、分化和存活的關鍵通路）。BRAF基因位于人类7号染色体（7q34），编码的BRAF蛋白通过磷酸化MEK1/2激活下游ERK信号。BRAF最常见的突变是V600E（第600位缬氨酸被谷氨酸取代），导致激酶活性持续激活，引发MAPK通路异常信号传导。这种突变与多种癌症相关，如黑色素瘤（约50%病例）、甲状腺乳头状癌（45%）、结直肠癌（10%）和少数肺癌。BRAF突变还可能导致罕见发育障碍如努南综合征（Noonan syndrome）和心-面-皮肤综合征（Cardio-facio-cutaneous syndrome）。当BRAF过表达时，会过度激活MAPK通路，促进细胞增殖和肿瘤发生；而表达降低可能导致发育缺陷或细胞凋亡增加。针对BRAF V600E的靶向药物如维莫非尼（vemurafenib）和达拉非尼（dabrafenib）已用于临床，但长期使用可能引发耐药性（如通过MEK或NRAS突变）。野生型BRAF在神经发育和血管形成中起重要作用，而突变体可能通过"激酶活性依赖"或"非依赖"机制（如改变蛋白相互作用）影响细胞行为。BRAF抑制剂常与MEK抑制剂（如曲美替尼trametinib）联用以延缓耐药。需要注意的是，某些BRAF突变（如D594G）反而会降低激酶活性，但可能通过激活CRAF间接促进肿瘤。

This gene encodes a protein belonging to the raf/mil family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERKs signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene are associated with cardiofaciocutaneous syndrome, a disease characterized by heart defects, mental retardation and a distinctive facial appearance. Mutations in this gene have also been associated with various cancers, including non-Hodgkin lymphoma, colorectal cancer, malignant melanoma, thyroid carcinoma, non-small cell lung carcinoma, and adenocarcinoma of lung. A pseudogene, which is located on chromosome X, has been identified for this gene. [provided by RefSeq, Jul 2008]

该基??因编码属于RAF / MIL家庭丝氨酸/苏氨酸蛋白激酶的蛋白质。这种蛋白质在调节MAP激酶/ ERK的信号传导途径，从而影响细胞分裂，分化，和分泌的作用。在这个基因的突变与心脸皮肤综合征，这种疾病的特点是心脏畸形，智力低下及鲜明的面容有关。在这个基因的突变也已与各种癌症，包括非何杰金氏淋巴瘤，结肠直肠癌，恶性黑素瘤，甲状腺癌，非小细胞肺癌和肺腺癌相关联。假基因，位于X染色体上，已经确定了这个基因。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CCND1基因的介绍     Wikipedia数据库中对CCND1基因的介绍

基因序列

基因序列

CCND1基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

BRAF基因的碱基突变：           仅显示部分snp
rs722011       rs964942       rs986050       rs1009772       rs1045559       rs1267600       rs1267601       rs1267602       rs1267603       rs1267605       rs1267606       rs1267607       rs1267608       rs1267609       rs1267610       rs1267611       rs1267612      

基因表达

基因表达

BRAF基因在不同组织中的表达：    [UniProt]

基因在不同组织中的表达图

基因引物

基因引物

正向引物序列
正向Tm值
反向引物序列
反向Tm值
评分
AACATATAGAGGCCCTATTGGAC
59
TGTATTCTTCATAGGCCTCCAG
59
GCCATGAAGAGATTAATGGCAG
59
CAATAGAGGCGAGAATTTGGG
59
GCCATGAAGAGATTAATGGC
57
AATAGAGGCGAGAATTTGGG
57
ACATATAGAGGCCCTATTGGAC
59
GTGTATTCTTCATAGGCCTCCA
59
CCATGAAGAGATTAATGGCAGAG
59
CAATAGAGGCGAGAATTTGGG
59
GAACATATAGAGGCCCTATTGG
58
GTATTCTTCATAGGCCTCCAG
57

转录因子

转录因子

      尚未收录相关数据

基因本体信息

BRAF基因（以及对应的蛋白质）的细胞分布位置：

[UniProt]     [GenomeNet]

" d="M482.414,245.296c3.539,4.293,4.455,10.009,0.202,11 c-4.244,0.996-4.983-10.983-8.293-8.438c-5.271,4.08,9.834,12.271,5.144,17.287c-3.717,3.607-6.172-5.75-10.839-1.976 c-4.673,3.776,6.781,7.299,2.831,11.326c-4.354,4.045-6.979-1.449-9.837-5.517c-1.193-1.742-2.059-3.851-3.595-2.748 c-1.516,1.078-1.854,1.795-0.938,3.666c2.374,4.854,9.235,10.119,5.156,12.535c-5.636,3.346-5.044-8.871-9.426-7.574 c-4.388,1.291,2.557,10.66-1.245,11.141c-4.089,0.545-3.483-10.239-6.979-8.575c-2.522,1.206-0.929,3.071-0.938,4.899 c0.004,1.32-0.964,3.6-2.372,4.062c-3.593,1.171-8.544-1.065-10.251-3.59c-6.04-8.93,0.396-15.997,4.639-7.015 c3.023,4.642,5.182,0.834,2.839-2.219c-1.032-1.354-4.309-5.901-0.781-7.252c2.904-1.113,4.271,1.941,5.985,4.592 c2.61,4.016,5.485,0.117,3.031-3.414c-1.828-2.633-2.74-3.803,3.156-7.42c6.405-4.369,6.52,3.869,10.077,0.646 c2.309-1.832-4.783-5.149,0.06-8.995c2.896-2.293,5.18,6.207,7.961,3.516c3.523-2.737-7.717-7.369,0.117-11.736 C473.413,240.77,480.519,242.891,482.414,245.296z"/> Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
  • 质膜
  • 细胞质
  • 细胞外
  • 高尔基体
  • 囊泡
  • 细胞骨架
  • 内质网
  • 细胞核
  • 内体
  • 溶酶体
  • 线粒体

BRAF基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0004672
H7C4S5 (UniProtKB)
IEA
GO:0005524
H7C4S5 (UniProtKB)
IEA
GO:0006468
H7C4S5 (UniProtKB)
IEA
GO:0004674
H7C560 (UniProtKB)
IEA
GO:0005524
H7C560 (UniProtKB)
IEA
GO:0006468
H7C560 (UniProtKB)
IEA
GO:0005057
H7C5K3 (UniProtKB)
IEA
GO:0007165
H7C5K3 (UniProtKB)
IEA
GO:0000165
P15056 (UniProtKB)
TAS
GO:0000186
P15056 (UniProtKB)
IEA
GO:0002318
P15056 (UniProtKB)
IEA
GO:0004672
P15056 (UniProtKB)
IDA
GO:0004674
P15056 (UniProtKB)
IDA
GO:0004709
P15056 (UniProtKB)
IEA
GO:0005509
P15056 (UniProtKB)
IDA
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005515
P15056 (UniProtKB)
IPI
GO:0005524
P15056 (UniProtKB)
IEA
GO:0005634
P15056 (UniProtKB)
IEA
GO:0005737
P15056 (UniProtKB)
IDA
GO:0005739
P15056 (UniProtKB)
IEA
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005829
P15056 (UniProtKB)
TAS
GO:0005886
P15056 (UniProtKB)
TAS
GO:0005886
P15056 (UniProtKB)
TAS
GO:0006468
P15056 (UniProtKB)
IDA
GO:0008542
P15056 (UniProtKB)
IEA
GO:0009887
P15056 (UniProtKB)
TAS
GO:0010628
P15056 (UniProtKB)
IMP
GO:0010764
P15056 (UniProtKB)
IEA
GO:0015758
P15056 (UniProtKB)
IDA
GO:0030878
P15056 (UniProtKB)
IEA
GO:0031434
P15056 (UniProtKB)
IEA
GO:0033138
P15056 (UniProtKB)
IDA
GO:0035019
P15056 (UniProtKB)
IEA
GO:0035690
P15056 (UniProtKB)
IEA
GO:0042127
P15056 (UniProtKB)
IEA
GO:0042802
P15056 (UniProtKB)
IPI
GO:0042802
P15056 (UniProtKB)
IPI
GO:0042802
P15056 (UniProtKB)
IPI
GO:0042802
P15056 (UniProtKB)
IPI
GO:0043005
P15056 (UniProtKB)
IEA
GO:0043005
P15056 (UniProtKB)
IEA
GO:0043066
P15056 (UniProtKB)
IDA
GO:0043231
P15056 (UniProtKB)
IDA
GO:0043367
P15056 (UniProtKB)
IEA
GO:0043368
P15056 (UniProtKB)
IEA
GO:0043434
P15056 (UniProtKB)
IEA
GO:0043524
P15056 (UniProtKB)
IEA
GO:0043524
P15056 (UniProtKB)
IEA
GO:0044297
P15056 (UniProtKB)
IEA
GO:0046982
P15056 (UniProtKB)
IEA
GO:0048538
P15056 (UniProtKB)
IEA
GO:0048680
P15056 (UniProtKB)
IEA
GO:0050772
P15056 (UniProtKB)
IEA
GO:0051291
P15056 (UniProtKB)
IEA
GO:0051496
P15056 (UniProtKB)
IEA
GO:0051591
P15056 (UniProtKB)
IEA
GO:0060291
P15056 (UniProtKB)
IEA
GO:0060323
P15056 (UniProtKB)
IEA
GO:0060324
P15056 (UniProtKB)
IEA
GO:0070374
P15056 (UniProtKB)
IDA
GO:0071277
P15056 (UniProtKB)
IDA
GO:0090150
P15056 (UniProtKB)
IDA
GO:1900026
P15056 (UniProtKB)
IEA
GO:2000301
P15056 (UniProtKB)
IEA
GO:2000352
P15056 (UniProtKB)
IEA
GO:0031267
P15056 (UniProtKB)
IPI

基因相关microRNA

基因相关microRNA

可能调控 BRAF基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

MINT

BioGrid

IntAct

mentha

String

基因与其他基因之间的相互作用关系图
序号 作用方式 资源库来源/分值 基因名称 基因名称

基因通路

基因通路

基因相关疾病

基因相关疾病

疾病名称 关系值 NofPmids NofSnps 来源
疾病名称 关系值 NofPmids NofSnps 来源
Cardio-facio-cutaneous syndrome 0.567057489 30 29 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
melanoma 0.430771416 851 6 BeFree_CLINVAR_CTD_human_GAD_LHGDN
NOONAN SYNDROME 7 0.36 2 14 CLINVAR_CTD_human_UNIPROT
LEOPARD SYNDROME 3 0.36 1 1 CLINVAR_CTD_human_UNIPROT
Papillary thyroid carcinoma 0.324734064 348 3 BeFree_CLINVAR_GAD_ORPHANET
Thyroid Neoplasm 0.288143256 101 1 BeFree_CTD_human_GAD_LHGDN
Colorectal Cancer 0.274375073 298 2 BeFree_GAD_UNIPROT
Noonan Syndrome 0.248458305 9 0 BeFree_CTD_human_GAD_ORPHANET
Adenocarcinoma of lung (disorder) 0.243528744 13 3 BeFree_CLINVAR_CTD_human
Lymphoma, Non-Hodgkin 0.242367032 3 3 CLINVAR_GAD_UNIPROT

基因相关服务

基因相关服务

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