RET基因详情-基因数据库-基因云馆

RET (ret proto-oncogene)

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 1...
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

10q11.21

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。

中文English

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

RET基因的碱基序列：[NCBI]

Loading Gene Browser...

蛋白质序列

1MAKATSGAAG LRLLLLLLLP LLGKVALGLY FSRDAYWEKL
41YVDQAAGTPL LYVHALRDAP EEVPSFRLGQ HLYGTYRTRL
81
HENNWICIQ EDTGLLYLNR SLDHSSWEKL SVRNRGFPLL
121TVYLKVFLSP TSLREGECQW PGCARVYFSF FNTSFPACSS
161L
KPRELCFP ETRPSFRIRE NRPPGTFHQF RLLPVQFLCP
201NISVAYRLLE GEGLPFRCAP DSLEVSTRWA LDREQREKYE
241LV
AVCTVHA GAREEVVMVP FPVTVYDEDD SAPTFPAGVD
281TASAVVEFKR KEDTVVATLR VFDADVVPAS GELVRRYTST
321LLP
GDTWAQ QTFRVEHWPN ETSVQANGSF VRATVHDYRL
361VLNRNLSISE NRTMQLAVLV NDSDFQGPGA GVLLLHFNVS
401VLPV
SLHLP STYSLSVSRR ARRFAQIGKV CVENCQAFSG
441INVQYKLHSS GANCSTLGVV TSAEDTSGIL FVNDTKALRR
481PKCAE
LHYM VVATDQQTSR QAQAQLLVTV EGSYVAEEAG
521CPLSCAVSKR RLECEECGGL GSPTGRCEWR QGDGKGITRN
561FSTCSP
STK TCPDGHCDVV ETQDINICPQ DCLRGSIVGG
601HEPGEPRGIK AGYGTCNCFP EEEKCFCEPE DIQDPLCDEL
641CRTVIAA
AV LFSFIVSVLL SAFCIHCYHK FAHKPPISSA
681EMTFRRPAQA FPVSYSSSGA RRPSLDSMEN QVSVDAFKIL
721EDPKWEFP
R KNLVLGKTLG EGEFGKVVKA TAFHLKGRAG
761YTTVAVKMLK ENASPSELRD LLSEFNVLKQ VNHPHVIKLY
801GACSQDGPL
 LLIVEYAKYG SLRGFLRESR KVGPGYLGSG
841GSRNSSSLDH PDERALTMGD LISFAWQISQ GMQYLAEMKL
881VHRDLAARNI 
LVAEGRKMK ISDFGLSRDV YEEDSYVKRS
921QGRIPVKWMA IESLFDHIYT TQSDVWSFGV LLWEIVTLGG
961NPYPGIPPER L
FNLLKTGH RMERPDNCSE EMYRLMLQCW
1001KQEPDKRPVF ADISKDLEKM MVKRRDYLDL AASTPSDSLI
1041YDDGLSEEET PL
VDCNNAP LPRALPSTWI ENKLYGMSDP
1081NWPGESPVPL TRADGTNTGF PRYPNDSVYA NWMLSPSAAK
1121LMDTFDS

结构预测来自 AlphaFold DB（UniProt: P07949），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

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

RET基因在不同组织中的表达： [UniProt]

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

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

RET基因（以及对应的蛋白质）的细胞分布位置：

[UniProt] [GenomeNet]

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

可能调控 RET基因的相关microRNA：

hsa-miR-192 hsa-let-7a hsa-let-7b hsa-let-7b* hsa-let-7c hsa-let-7c* hsa-let-7d hsa-let-7d* hsa-let-7e hsa-let-7e*

String

BioGrid

IntAct

mentha

MINT

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关联基因	作用方式	资源库来源/分值

KEGG

名称
4144 Endocytosis [PATH:hsa04144]
5200 Pathways in cancer [PATH:hsa05200]
5230 Central carbon metabolism in cancer [PATH:hsa05230]
5216 Thyroid cancer [PATH:hsa05216]

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

Reversal of Paraneoplastic Non-Bacterial Thrombotic Endocarditis with Heparin and Targeted Cancer Therapy: A Case Report.

Goetze C, Frost N, Hilgendorf I, Morris DA, Schneider-Reigbert M Reports (MDPI) IF: 0.5 2026-02-28

Dose-Dependent and Non-Autonomous Signaling in CAKUT: A Lineage-Specific Framework from Conditional Knockout Studies.

Kelam N, Todorović P, Bajt P, Pavlović N, Rakić T, Vukojević K, Racetin A Biomolecules 2026-03-18

The Role of Reticulocyte-Derived Parameters in the Detection of Iron-Restricted Erythropoiesis in the Elderly.

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Deuterium Concentration as a Dual Regulator: Depletion and Enrichment Elicit Divergent Transcriptional Responses in A549 Lung Adenocarcinoma Cells.

Csonka GI, Somlyai I, Somlyai G Int J Mol Sci IF: 3.226 2026-03-12

Tyrosine Kinase Inhibitor Therapy in Metastatic Medullary Thyroid Carcinoma: Real-World Data from Turkish Oncology Group.

Yıldız S, Demir H, Özüdoğru T, Günenç D, Gökdere ZS, Arvas H, Urakçı Z, Jeral Evinç S, Alan Ö, Çolak R, Yılmaz M, Aşık E, Yıldırım A, Güren AK, Köstek O, Karabuğa B, Ateş Ö, Şencan C, Yavuzşen T, İpek ŞA, Kara İO, Şakalar T, Gökay AC, Yeşil Çınkır H, Dişli AK, İnanç M, Ünal OÜ, Yılmaz E, Hacıbekiroğlu İ, Kitaplı S, Tanrıverdi Ö, Şahin E, Sağıroğlu MF, Yumuştutan P, Saray S, Çelik S, Şahinli H, Gökmen A, Kahveci GB, Divriklioğlu D, Kılıçkap S J Clin Med 2026-03-19

Loss of WT1 Drives Adaptive Plasticity in CCDC6-RET Selpercatinib-Resistant Papillary Thyroid Cancer.

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Discovery of Pyrazolo[1,5-a]pyridine derivatives as potent RET inhibitors for the treatment of human thyroid and lung Cancer.

Pan L, Hu Y, Tan F, Fang Q, Chen J, Zhang Y, Wu W, Xie H Bioorg Med Chem Lett IF: 2.3 2026-08-00

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RET (ret proto-oncogene)

基因基本信息

基因基本信息

基因染色体位置

基因染色体位置

基因简述

基因简述

基因序列

基因序列

编码蛋白质

编码蛋白质

基因突变

基因突变

基因表达

基因表达

基因引物

基因引物

转录因子

转录因子

基因本体信息

基因相关microRNA

基因相关microRNA

基因相互作用关系

基因相互作用关系

基因通路

基因通路

基因相关疾病

基因相关疾病

基因相关文献

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基因相关服务

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