KIT (KIT proto-oncogene, receptor tyrosine kinase)

基因基本信息

基因基本信息

symbol:
KIT
locus group:
protein-coding gene
location:
4q12
gene_family:
Receptor Tyrosine Kinases|CD molecules|Immunoglobulin-like domain containing
alias symbol:
CD117|SCFR|C-Kit
alias name:
mast/stem cell growth factor rec...
entrez id:
3815
ensembl gene id:
ENSG00000157404
ucsc gene id:
uc010igr.4
refseq accession:
NM_000222
hgnc_id:
HGNC:6342
approved reserved:
1986-01-01

基因染色体位置

基因染色体位置

4q12

基因简述

基因简述

KIT基因（也称为CD117或干细胞因子受体）是一种原癌基因，属于III型受体酪氨酸激酶（RTK）家族，与PDGFRA、CSF1R等基因同属一个家族。该基因编码的KIT蛋白是一种跨膜受体酪氨酸激酶，主要通过与配体干细胞因子（SCF）结合后被激活，参与细胞信号传导。KIT在造血干细胞、肥大细胞、黑色素细胞和生殖细胞等多种细胞的增殖、分化、存活和迁移中发挥关键作用。KIT蛋白的激活会触发下游信号通路（如PI3K/AKT、RAS/MAPK和JAK/STAT），调控细胞功能。KIT基因突变可能导致其组成性激活（即不依赖配体的持续激活），从而引发异常细胞增殖，与多种疾病相关，包括胃肠道间质瘤（GIST）、肥大细胞增多症、急性髓系白血病（AML）和黑色素瘤等。常见的激活突变发生在KIT基因的外显子11、9、13和17，其中外显子11突变最常见于GIST。KIT过表达或功能获得性突变会促进肿瘤发生，而功能丧失性突变则可能导致贫血、色素沉着异常（如白化病）和生殖细胞发育缺陷。KIT基因的异常表达还会影响其他基因或通路，例如上调抗凋亡蛋白BCL-2或激活STAT3，进一步促进肿瘤生长。KIT抑制剂（如伊马替尼）已成功用于治疗GIST和肥大细胞疾病，但耐药性突变（如外显子17的D816V突变）仍是临床挑战。KIT基因家族（III型RTK）的共性包括具有胞外配体结合域、跨膜域和胞内酪氨酸激酶域，依赖配体诱导的二聚化激活下游信号。

中文English

无

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

基因序列

基因序列

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

编码蛋白质

编码蛋白质

蛋白质序列
1MRGARGAWDF LCVLLLLLRV QTGSSQPSVS PGEPSPPSIH
41PGKSDLIVRV GDEIRLLCTD PGFVKWTFEI LDETNENKQN
81 EWITEKAEA TNTGKYTCTN KHGLSNSIYV FVRDPAKLFL
121VDRSLYGKED NDTLVRCPLT DPEVTNYSLK GCQGKPLPKD
161L RFIPDPKA GIMIKSVKRA YHRLCLHCSV DQEGKSVLSE
201KFILKVRPAF KAVPVVSVSK ASYLLREGEE FTVTCTIKDV
241SS SVYSTWK RENSQTKLQE KYNSWHHGDF NYERQATLTI
281SSARVNDSGV FMCYANNTFG SANVTTTLEV VDKGFINIFP
321MIN TTVFVN DGENVDLIVE YEAFPKPEHQ QWIYMNRTFT
361DKWEDYPKSE NESNIRYVSE LHLTRLKGTE GGTYTFLVSN
401SDVN AAIAF NVYVNTKPEI LTYDRLVNGM LQCVAAGFPE
441PTIDWYFCPG TEQRCSASVL PVDVQTLNSS GPPFGKLVVQ
481SSIDS SAFK HNGTVECKAY NDVGKTSAYF NFAFKGNNKE
521QIHPHTLFTP LLIGFVIVAG MMCIIVMILT YKYLQKPMYE
561VQWKVV EEI NGNNYVYIDP TQLPYDHKWE FPRNRLSFGK
601TLGAGAFGKV VEATAYGLIK SDAAMTVAVK MLKPSAHLTE
641REALMSE LK VLSYLGNHMN IVNLLGACTI GGPTLVITEY
681CCYGDLLNFL RRKRDSFICS KQEDHAEAAL YKNLLHSKES
721SCSDSTNE Y MDMKPGVSYV VPTKADKRRS VRIGSYIERD
761VTPAIMEDDE LALDLEDLLS FSYQVAKGMA FLASKNCIHR
801DLAARNILL THGRITKICD FGLARDIKND SNYVVKGNAR
841LPVKWMAPES IFNCVYTFES DVWSYGIFLW ELFSLGSSPY
881PGMPVDSKFY KMIKEGFRM LSPEHAPAEM YDIMKTCWDA
921DPLKRPTFKQ IVQLIEKQIS ESTNHIYSNL ANCSPNRQKP
961VVDHSVRINS V GSTASSSQ PLLVHDDV
结构预测来自 AlphaFold DB（UniProt: P10721），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

KIT基因的碱基突变：           仅显示部分snp
rs8022       rs380486       rs445058       rs759083       rs879415       rs968541       rs981959       rs999020       rs999021       rs1005438       rs1008658       rs1014537       rs1079712       rs1123629       rs1124007       rs1125450       rs1125451      

基因表达

基因表达

KIT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
GTCCAGACAGGCTCTTCTC
60
GCATAACAGCCTAATCTCGTC
59
ACATGGACATGAAACCTGG
57
TGTATGAGCCTATTCTCACAG
57
ACATGGACATGAAACCTGG
58
TGTATGAGCCTATTCTCACAG
57
AAGGAAACGCTCGACTACC
60
CAGACGTCACTTTCAAACGT
59
GTTGAATGTAAGGCTTACAACG
58
GGATTTGCTCTTTGTTGTTACC
59
AGACTTAGAAGACTTGCTGAG
57
CTGTGAATACAATTCTTGGAGG
57
ACAGTCAGACTAAACTACAGGA
58
ATAGTCAACGTTGCCTGAC
58
AGACTTAGAAGACTTGCTGAG
57
CTGTGAATACAATTCTTGGAGG
57
GTCCAGACAGGCTCTTCTC
60
CATAACAGCCTAATCTCGTCG
59
ACAACAAAGAGCAAATCCATCC
60
TAATGCACATCATGCCAGC
59

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）
MITF
KIT
Activation
19937254
RBMX
KIT
Repression
16707624
SP1
KIT
Unknown
9834219
TFAP2A
KIT
Unknown
20805990

基因本体信息

KIT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

KIT基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0000165
P10721 (UniProtKB)
TAS
GO:0000187
P10721 (UniProtKB)
IDA
GO:0001541
P10721 (UniProtKB)
ISS
GO:0001669
P10721 (UniProtKB)
IEA
GO:0002020
P10721 (UniProtKB)
IEA
GO:0002318
P10721 (UniProtKB)
IEA
GO:0002320
P10721 (UniProtKB)
IEA
GO:0002327
P10721 (UniProtKB)
ISS
GO:0002371
P10721 (UniProtKB)
ISS
GO:0002551
P10721 (UniProtKB)
IDA
GO:0004713
P10721 (UniProtKB)
TAS
GO:0004714
P10721 (UniProtKB)
IDA
GO:0004716
P10721 (UniProtKB)
IEA
GO:0005020
P10721 (UniProtKB)
IEA
GO:0005088
P10721 (UniProtKB)
TAS
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005515
P10721 (UniProtKB)
IPI
GO:0005524
P10721 (UniProtKB)
IEA
GO:0005615
P10721 (UniProtKB)
IDA
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005886
P10721 (UniProtKB)
TAS
GO:0005911
P10721 (UniProtKB)
IEA
GO:0006687
P10721 (UniProtKB)
IEA
GO:0006954
P10721 (UniProtKB)
ISS
GO:0007165
P10721 (UniProtKB)
TAS
GO:0007283
P10721 (UniProtKB)
ISS
GO:0007283
P10721 (UniProtKB)
TAS
GO:0007286
P10721 (UniProtKB)
IEA
GO:0008284
P10721 (UniProtKB)
IEA
GO:0008284
P10721 (UniProtKB)
IEA
GO:0008354
P10721 (UniProtKB)
IEA
GO:0008360
P10721 (UniProtKB)
ISS
GO:0008542
P10721 (UniProtKB)
IEA
GO:0008584
P10721 (UniProtKB)
IEP
GO:0009897
P10721 (UniProtKB)
IEA
GO:0009897
P10721 (UniProtKB)
IEA
GO:0009898
P10721 (UniProtKB)
IEA
GO:0010863
P10721 (UniProtKB)
TAS
GO:0014066
P10721 (UniProtKB)
TAS
GO:0014068
P10721 (UniProtKB)
TAS
GO:0016021
P10721 (UniProtKB)
IEA
GO:0018108
P10721 (UniProtKB)
IDA
GO:0019221
P10721 (UniProtKB)
IDA
GO:0019827
P10721 (UniProtKB)
TAS
GO:0019955
P10721 (UniProtKB)
IDA
GO:0030032
P10721 (UniProtKB)
ISS
GO:0030097
P10721 (UniProtKB)
TAS
GO:0030217
P10721 (UniProtKB)
ISS
GO:0030218
P10721 (UniProtKB)
ISS
GO:0030318
P10721 (UniProtKB)
ISS
GO:0030318
P10721 (UniProtKB)
TAS
GO:0030335
P10721 (UniProtKB)
IEA
GO:0031274
P10721 (UniProtKB)
IEA
GO:0031532
P10721 (UniProtKB)
IDA
GO:0032762
P10721 (UniProtKB)
IDA
GO:0035019
P10721 (UniProtKB)
IEA
GO:0035162
P10721 (UniProtKB)
ISS
GO:0035234
P10721 (UniProtKB)
IEA
GO:0035701
P10721 (UniProtKB)
IEA
GO:0035855
P10721 (UniProtKB)
ISS
GO:0038093
P10721 (UniProtKB)
IDA
GO:0038109
P10721 (UniProtKB)
IDA
GO:0038162
P10721 (UniProtKB)
ISS
GO:0042127
P10721 (UniProtKB)
TAS
GO:0042127
P10721 (UniProtKB)
TAS
GO:0042511
P10721 (UniProtKB)
IMP
GO:0042517
P10721 (UniProtKB)
IMP
GO:0042523
P10721 (UniProtKB)
IMP
GO:0042629
P10721 (UniProtKB)
IEA
GO:0042803
P10721 (UniProtKB)
IPI
GO:0043069
P10721 (UniProtKB)
IEA
GO:0043303
P10721 (UniProtKB)
IMP
GO:0043410
P10721 (UniProtKB)
IMP
GO:0043473
P10721 (UniProtKB)
ISS
GO:0043547
P10721 (UniProtKB)
IEA
GO:0043552
P10721 (UniProtKB)
TAS
GO:0045747
P10721 (UniProtKB)
IEA
GO:0046427
P10721 (UniProtKB)
IMP
GO:0046777
P10721 (UniProtKB)
IDA
GO:0046854
P10721 (UniProtKB)
IEA
GO:0046872
P10721 (UniProtKB)
IEA
GO:0046934
P10721 (UniProtKB)
TAS
GO:0048015
P10721 (UniProtKB)
TAS
GO:0048070
P10721 (UniProtKB)
IEA
GO:0048103
P10721 (UniProtKB)
IEA
GO:0048170
P10721 (UniProtKB)
IEA
GO:0048565
P10721 (UniProtKB)
ISS
GO:0048863
P10721 (UniProtKB)
ISS
GO:0050673
P10721 (UniProtKB)
IEA
GO:0050910
P10721 (UniProtKB)
ISS
GO:0051091
P10721 (UniProtKB)
IMP
GO:0060326
P10721 (UniProtKB)
IDA
GO:0060374
P10721 (UniProtKB)
ISS
GO:0060374
P10721 (UniProtKB)
TAS
GO:0070662
P10721 (UniProtKB)
TAS
GO:0097067
P10721 (UniProtKB)
IEA
GO:0097324
P10721 (UniProtKB)
ISS
GO:0097326
P10721 (UniProtKB)
ISS
GO:1905065
P10721 (UniProtKB)
IDA

基因相关microRNA

基因相关microRNA

可能调控 KIT基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

String
BioGrid
IntAct
mentha
MINT
Reactome
加载中…
关联基因 作用方式 资源库来源/分值

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
Gastrointestinal Stromal Tumors 0.760239544 656 19 BeFree_CLINVAR_CTD_human_GAD_LHGDN_MGD_ORPHANET_UNIPROT
Piebaldism 0.566514605 27 10 BeFree_CLINVAR_CTD_human_MGD_ORPHANET_UNIPROT
Leukemia, Myelocytic, Acute 0.301492667 121 4 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Mastocytosis, Systemic 0.281242809 86 5 BeFree_CLINVAR_CTD_human_GAD_LHGDN
Small cell carcinoma of lung 0.129238955 24 0 BeFree_CTD_human_LHGDN
Neoplasm Recurrence, Local 0.127101096 4 0 CTD_human_GAD
Leukemia, Mast-Cell 0.126253095 14 5 BeFree_CLINVAR_LHGDN
Mammary Neoplasms 0.12272435 2 0 CTD_human_LHGDN
Non-Small Cell Lung Carcinoma 0.121628651 7 0 BeFree_CTD_human
Testicular Germ Cell Tumor 0.120542884 2 0 BeFree_CTD_human

基因相关文献

基因相关文献

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Zhuang X, Mo T, Ji W, Wang B, Yao R, Zhao W, Yang L, Xu Y, Tan Y, Yao J, Sun C, Cheng G J Ethnopharmacol IF: 6.8 2027-01-10
Colonic Perineurioma Presenting as a Small Subepithelial Lesion With Distinctive Endoscopic Findings.
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