RET (ret proto-oncogene)

基因基本信息

基因基本信息

symbol:
RET
locus group:
protein-coding gene
location:
10q11.21
gene_family:
Cadherin-related|Receptor Tyrosine Kinases
alias symbol:
PTC|CDHF12|RET51|CDHR16
alias name:
cadherin-related family member 16|…
entrez id:
5979
ensembl gene id:
ENSG00000165731
ucsc gene id:
uc001jal.4
refseq accession:
NM_020975
hgnc_id:
HGNC:9967
approved reserved:
1990-07-15

基因染色体位置

基因染色体位置

10q11.21
基因染色体位置图

基因简述

基因简述

RET基因编码一种受体酪氨酸激酶，属于受体酪氨酸激酶（RTK）家族的成员，该家族还包括EGFR、FGFR等基因，其共同特点是具有细胞外配体结合域、跨膜域和细胞内酪氨酸激酶活性域，主要参与细胞信号传导调控细胞生长、分化和存活。RET蛋白在神经嵴来源的细胞（如肠道神经节细胞、甲状腺C细胞等）中高表达，其正常功能依赖于与配体（如胶质细胞源性神经营养因子GDNF家族）结合后形成复合物并激活下游信号通路（如RAS/MAPK、PI3K/AKT等），对胚胎发育（尤其是肾脏和神经系统）至关重要。RET基因突变可导致功能异常，包括功能获得性突变（如M918T）会引发组成性激活，与多发性内分泌腺瘤2型（MEN2A/MEN2B）和家族性甲状腺髓样癌密切相关，而功能丧失性突变则导致先天性巨结肠（Hirschsprung病）。RET过表达或持续激活会异常刺激细胞增殖和存活，促进肿瘤发生，尤其在甲状腺癌和某些肺癌中常见；而表达降低则可能影响神经嵴细胞迁移分化，导致肠道神经节缺失。针对RET异常的靶向药物（如凡德他尼、卡博替尼）已用于临床，但耐药突变（如V804M）仍需关注。该基因的融合变异（如CCDC6-RET）在非小细胞肺癌中作为驱动突变，提示其可作为治疗靶点。RET家族成员在进化上保守，均通过调控细胞通讯参与发育和稳态维持，其异常与多种疾病关联使其成为研究热点。

This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA, multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]

本基因，钙粘蛋白超家族的成员，编码受体酪氨酸激酶，其是转导细胞生长和分化信号的细胞表面分子之一。此基因在神经嵴发展至关重要的作用，并且它可以在体内和由细胞遗传学重排体外经历致癌活化。在这个基因的突变与疾病多发性内分泌肿瘤症IIA型，多发性内分泌肿瘤症IIB型，先天性巨结肠病和甲状腺髓样癌相关联。已发现该基因编码不同亚型的两个转录变异体。其他转录变异体进行了说明，但其生物有效性尚未得到证实。 [由RefSeq的，2008年7月提供]

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

基因序列

基因序列

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

基因突变

基因突变

RET基因的碱基突变：           仅显示部分snp
rs17028       rs715106       rs741968       rs752975       rs752976       rs752977       rs752978       rs760466       rs1799939       rs1800858       rs1800859       rs1800860       rs1800861       rs1800862       rs1800863       rs1864399       rs1864400      

基因表达

基因表达

RET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
ACGCAAAGTGATGTATGGTC
59
GAGGAATCCCAGGATAGGG
58
CAAACTGCAAACTCGTGCT
60
CACCAGCTCGTACTTCTCC
60
AAACTGCAAACTCGTGCTC
59
CACCAGCTCGTACTTCTCC
60
ACGCAAAGTGATGTATGGT
58
GAGGAATCCCAGGATAGGG
58
CGAAGACATCCAGGATCCA
59
GAGACGATGAAGGAGAAGAGG
60
CAGTCATCGCTGCAAACTG
60
ACGAGTTTGCAGTTTGCAG
60

转录因子

转录因子

转录因子
影响基因
影响类型
参考文献链接（PubMed）
ESR1
RET
Unknown
21737465; 21947652
FOXA1
RET
Unknown
21947652
NKX2-1
RET
Repression
19853745
SOX10
RET
Activation
20977903
SOX10
RET
Unknown
14523991
TFAP2C
RET
Unknown
22878616

基因本体信息

RET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

RET基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0016021
C9JYL6 (UniProtKB)
IEA
GO:0000165
P07949 (UniProtKB)
TAS
GO:0001657
P07949 (UniProtKB)
IEA
GO:0001755
P07949 (UniProtKB)
IEA
GO:0001838
P07949 (UniProtKB)
IEA
GO:0004713
P07949 (UniProtKB)
TAS
GO:0004714
P07949 (UniProtKB)
IEA
GO:0004872
P07949 (UniProtKB)
TAS
GO:0005088
P07949 (UniProtKB)
TAS
GO:0005509
P07949 (UniProtKB)
IDA
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005515
P07949 (UniProtKB)
IPI
GO:0005524
P07949 (UniProtKB)
IEA
GO:0005737
P07949 (UniProtKB)
IDA
GO:0005769
P07949 (UniProtKB)
IEA
GO:0005886
P07949 (UniProtKB)
IDA
GO:0005886
P07949 (UniProtKB)
TAS
GO:0005887
P07949 (UniProtKB)
IDA
GO:0006468
P07949 (UniProtKB)
TAS
GO:0006919
P07949 (UniProtKB)
IMP
GO:0007156
P07949 (UniProtKB)
IEA
GO:0007158
P07949 (UniProtKB)
IMP
GO:0007165
P07949 (UniProtKB)
TAS
GO:0007169
P07949 (UniProtKB)
IEA
GO:0007497
P07949 (UniProtKB)
TAS
GO:0010008
P07949 (UniProtKB)
IDA
GO:0010976
P07949 (UniProtKB)
IMP
GO:0014042
P07949 (UniProtKB)
IEA
GO:0018108
P07949 (UniProtKB)
IEA
GO:0018108
P07949 (UniProtKB)
IEA
GO:0030155
P07949 (UniProtKB)
IDA
GO:0030335
P07949 (UniProtKB)
IDA
GO:0030424
P07949 (UniProtKB)
IEA
GO:0030425
P07949 (UniProtKB)
IEA
GO:0033619
P07949 (UniProtKB)
IDA
GO:0033630
P07949 (UniProtKB)
IDA
GO:0035799
P07949 (UniProtKB)
IEA
GO:0042493
P07949 (UniProtKB)
IEA
GO:0042551
P07949 (UniProtKB)
IEA
GO:0043025
P07949 (UniProtKB)
IEA
GO:0043231
P07949 (UniProtKB)
IDA
GO:0043235
P07949 (UniProtKB)
IDA
GO:0043547
P07949 (UniProtKB)
IEA
GO:0045121
P07949 (UniProtKB)
IEA
GO:0045793
P07949 (UniProtKB)
IEA
GO:0045893
P07949 (UniProtKB)
ISS
GO:0048265
P07949 (UniProtKB)
ISS
GO:0048484
P07949 (UniProtKB)
IEA
GO:0050770
P07949 (UniProtKB)
IEA
GO:0060041
P07949 (UniProtKB)
IEA
GO:0060384
P07949 (UniProtKB)
IEA
GO:0061146
P07949 (UniProtKB)
ISS
GO:0061146
P07949 (UniProtKB)
ISS
GO:0071300
P07949 (UniProtKB)
IMP
GO:0072300
P07949 (UniProtKB)
ISS
GO:0097021
P07949 (UniProtKB)
ISS
GO:1903263
P07949 (UniProtKB)
IEA
GO:2001241
P07949 (UniProtKB)
IMP
GO:2001241
P07949 (UniProtKB)
TAS
GO:0005509
Q9BTX6 (UniProtKB)
IEA
GO:0007156
Q9BTX6 (UniProtKB)
IEA
GO:0016020
Q9BTX6 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 RET基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

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
Multiple Endocrine Neoplasia Type 2a 0.613995491 411 40 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET_UNIPROT
Pheochromocytoma 0.604771993 143 14 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_RGD_UNIPROT
Multiple Endocrine Neoplasia Type 2b 0.591974059 91 12 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Hirschsprung Disease 0.52854372 173 5 BeFree_CLINVAR_CTD_human_GAD_LHGDN_ORPHANET
Familial medullary thyroid carcinoma 0.521802048 162 27 BeFree_CLINVAR_CTD_human_ORPHANET_UNIPROT
Medullary carcinoma of thyroid 0.32 390 28 BeFree_CLINVAR_CTD_human
Multiple Endocrine Neoplasia 0.30480217 149 6 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Thyroid Neoplasm 0.258274259 119 3 BeFree_CTD_human_GAD_LHGDN
Congenital absence of kidneys syndrome 0.241357209 5 0 BeFree_CTD_human_ORPHANET
Congenital central hypoventilation 0.241085767 7 2 BeFree_CTD_human_UNIPROT

基因相关服务

基因相关服务

联系方式

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