DDIT3 (DNA damage inducible transcript 3)

基因基本信息

基因基本信息

symbol:
DDIT3
locus group:
protein-coding gene
location:
12q13.3
gene_family:
alias symbol:
CHOP10|GADD153|CHOP
alias name:
C/EBP zeta
entrez id:
1649
ensembl gene id:
ENSG00000175197
ucsc gene id:
uc001soi.4
refseq accession:
NM_004083
hgnc_id:
HGNC:2726
approved reserved:
1991-09-11

基因染色体位置

基因染色体位置

12q13.3
基因染色体位置图

基因简述

基因简述

DDIT3（DNA Damage Inducible Transcript 3），也称为CHOP（C/EBP Homologous Protein），是一种应激反应基因，属于C/EBP（CCAAT/增强子结合蛋白）转录因子家族。该基因在正常生理状态下表达水平较低，但在内质网应激、DNA损伤、缺氧或营养缺乏等细胞应激条件下会被显著激活。DDIT3的主要功能是调控细胞凋亡、细胞周期停滞以及参与应激反应。它通过与其他C/EBP家族成员形成异源二聚体来抑制或激活下游靶基因的表达，从而影响细胞的命运。DDIT3的突变或异常表达与多种疾病相关，包括癌症、神经退行性疾病和代谢紊乱。例如，在某些癌症中，DDIT3的过表达可能促进肿瘤细胞的凋亡，但在其他情况下，其持续激活可能导致细胞凋亡过度，进而引发组织损伤。在阿尔茨海默病和帕金森病等神经退行性疾病中，DDIT3的异常表达与神经元死亡有关。此外，DDIT3在糖尿病中的作用也备受关注，因为内质网应激在胰岛素抵抗和β细胞功能障碍中起关键作用。如果DDIT3表达降低，细胞可能无法有效应对应激，导致异常细胞存活或功能紊乱；而过表达则可能过度激活凋亡途径，引起组织损伤。C/EBP基因家族的共性在于它们都含有保守的碱性亮氨酸拉链（bZIP）结构域，能够结合DNA并调控基因表达，参与细胞分化、代谢和免疫反应等多种生物学过程。

This gene encodes a member of the CCAAT/enhancer-binding protein (C/EBP) family of transcription factors. The protein functions as a dominant-negative inhibitor by forming heterodimers with other C/EBP members, such as C/EBP and LAP (liver activator protein), and preventing their DNA binding activity. The protein is implicated in adipogenesis and erythropoiesis, is activated by endoplasmic reticulum stress, and promotes apoptosis. Fusion of this gene and FUS on chromosome 16 or EWSR1 on chromosome 22 induced by translocation generates chimeric proteins in myxoid liposarcomas or Ewing sarcoma. Multiple alternatively spliced transcript variants encoding two isoforms with different length have been identified. [provided by RefSeq, Aug 2010]

该基因编码的CCAAT /增强子结合蛋白（C / EBP）家族的转录因子的成员。该蛋白质的功能如通过形成与其他C / EBP部件，如C / EBP和LAP（肝激活蛋白）异二聚体，并防止它们的DNA结合活性的显性负抑制剂。该蛋白质在脂肪生成和红细胞生成牵连，是通过内质网应激活化，促进细胞凋亡。这种基因和FUS对由易位染色体诱导染色体22 16或EWSR1融合生成黏液样脂肪肉瘤或尤文肉瘤嵌合蛋白。多个可变剪接转录物变体编码两种同种型具有不同的长度已被确定。 [由RefSeq的，2010年8月提供]

OMIM数据库中对DDIT3基因的介绍     Wikipedia数据库中对DDIT3基因的介绍

基因序列

基因序列

DDIT3基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

DDIT3基因的碱基突变：           仅显示部分snp
rs697221       rs703835       rs703836       rs1054519       rs1148550       rs1148557       rs2291136       rs3847699       rs4760298       rs10717326       rs11547020       rs28382833       rs28382834       rs28382835       rs28382836       rs28382837       rs28382838      

基因表达

基因表达

DDIT3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
CAAGCATGAACAATTGGGAG
58
CTGGGAAAGGTGGGTAGTG
60
CCTGAAAGCAGACTGATCCA
60
CCTCATACCAGGCTTCCAG
60
CTGAAAGCAGTACAACTTTACC
58
CTGCAGTTGGATCAGTCTG
58
ATGTTAAAGATGAGCGGGTG
58
ACACTTCCTTCTTGAACACTC
58
CATTGCCTTTCTCCTCGGA
60
TTCATCTGAAGACAGGACCTC
59
ACCTGAAAGCAGATGTGCT
60
GTCCTCATACCAGGCTTCC
60
CTCAATCCCACATACGCAG
58
ACAAGCTGAGACCTTTCCT
59
CTGAAAGCAGTACAACTTTACC
58
CACATCTGCAGGATAATGGG
59
ATTGCCTTTCTCCTCGGAC
60
TTTCATCTGAAGACAGGACCTC
60
CACCTGAAAGCAGATGTGC
60
CCTCATACCAGGCTTCCAG
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）
ATF3
DDIT3
Activation
22753726
ATF4
DDIT3
Activation
16246168; 17276738; 20020050; 21044953; 21966512
ATF4
DDIT3
Unknown
17455323; 22691366
ATF6
DDIT3
Unknown
17455323
BRCA1
DDIT3
Activation
21700680
CEBPB
DDIT3
Unknown
16757577
CEBPD
DDIT3
Activation
20971808
CEBPD
DDIT3
Repression
22347430
DDIT3
ANKRD1
Repression
19299913
DDIT3
ASNS
Repression
18940792

基因本体信息

DDIT3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

DDIT3基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0003700
A0A0C4DGW4 (UniProtKB)
IEA
GO:0005634
A0A0C4DGW4 (UniProtKB)
IEA
GO:0005737
A0A0C4DGW4 (UniProtKB)
IEA
GO:0006351
A0A0C4DGW4 (UniProtKB)
IEA
GO:0006355
A0A0C4DGW4 (UniProtKB)
IEA
GO:0006915
A0A0C4DGW4 (UniProtKB)
IEA
GO:0006986
A0A0C4DGW4 (UniProtKB)
IEA
GO:0007050
A0A0C4DGW4 (UniProtKB)
IEA
GO:0016055
A0A0C4DGW4 (UniProtKB)
IEA
GO:0043565
A0A0C4DGW4 (UniProtKB)
IEA
GO:0000122
P35638 (UniProtKB)
IGI
GO:0000122
P35638 (UniProtKB)
IDA
GO:0000976
P35638 (UniProtKB)
IDA
GO:0000978
P35638 (UniProtKB)
IDA
GO:0001077
P35638 (UniProtKB)
IDA
GO:0001955
P35638 (UniProtKB)
IEA
GO:0001975
P35638 (UniProtKB)
IEA
GO:0003677
P35638 (UniProtKB)
IDA
GO:0003677
P35638 (UniProtKB)
IDA
GO:0003700
P35638 (UniProtKB)
IC
GO:0003700
P35638 (UniProtKB)
IGI
GO:0003714
P35638 (UniProtKB)
TAS
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005515
P35638 (UniProtKB)
IPI
GO:0005634
P35638 (UniProtKB)
IDA
GO:0005634
P35638 (UniProtKB)
IDA
GO:0005634
P35638 (UniProtKB)
IDA
GO:0005634
P35638 (UniProtKB)
IDA
GO:0005654
P35638 (UniProtKB)
TAS
GO:0005770
P35638 (UniProtKB)
IEA
GO:0005829
P35638 (UniProtKB)
TAS
GO:0006355
P35638 (UniProtKB)
IMP
GO:0006355
P35638 (UniProtKB)
IMP
GO:0006974
P35638 (UniProtKB)
TAS
GO:0006983
P35638 (UniProtKB)
IEA
GO:0006983
P35638 (UniProtKB)
IEA
GO:0006986
P35638 (UniProtKB)
IDA
GO:0007050
P35638 (UniProtKB)
IDA
GO:0007568
P35638 (UniProtKB)
IEA
GO:0007584
P35638 (UniProtKB)
IEA
GO:0008134
P35638 (UniProtKB)
IPI
GO:0008134
P35638 (UniProtKB)
IPI
GO:0008140
P35638 (UniProtKB)
IPI
GO:0016055
P35638 (UniProtKB)
IEA
GO:0032757
P35638 (UniProtKB)
IMP
GO:0032792
P35638 (UniProtKB)
IGI
GO:0032792
P35638 (UniProtKB)
IDA
GO:0032993
P35638 (UniProtKB)
IDA
GO:0034976
P35638 (UniProtKB)
IDA
GO:0034976
P35638 (UniProtKB)
IDA
GO:0034976
P35638 (UniProtKB)
IDA
GO:0036488
P35638 (UniProtKB)
ISS
GO:0036488
P35638 (UniProtKB)
TAS
GO:0036499
P35638 (UniProtKB)
TAS
GO:0036499
P35638 (UniProtKB)
TAS
GO:0036499
P35638 (UniProtKB)
TAS
GO:0036500
P35638 (UniProtKB)
TAS
GO:0036500
P35638 (UniProtKB)
TAS
GO:0042493
P35638 (UniProtKB)
IEA
GO:0042542
P35638 (UniProtKB)
IEA
GO:0042594
P35638 (UniProtKB)
IEA
GO:0042789
P35638 (UniProtKB)
IDA
GO:0043161
P35638 (UniProtKB)
IDA
GO:0043433
P35638 (UniProtKB)
IDA
GO:0043522
P35638 (UniProtKB)
IDA
GO:0043522
P35638 (UniProtKB)
IDA
GO:0043525
P35638 (UniProtKB)
IC
GO:0043620
P35638 (UniProtKB)
TAS
GO:0044212
P35638 (UniProtKB)
ISS
GO:0044212
P35638 (UniProtKB)
IC
GO:0044324
P35638 (UniProtKB)
ISS
GO:0045454
P35638 (UniProtKB)
IDA
GO:0045599
P35638 (UniProtKB)
IEA
GO:0045662
P35638 (UniProtKB)
IEA
GO:0045892
P35638 (UniProtKB)
IDA
GO:0045893
P35638 (UniProtKB)
IDA
GO:0045893
P35638 (UniProtKB)
IDA
GO:0045944
P35638 (UniProtKB)
IDA
GO:0045944
P35638 (UniProtKB)
IMP
GO:0046982
P35638 (UniProtKB)
TAS
GO:0046982
P35638 (UniProtKB)
NAS
GO:0046982
P35638 (UniProtKB)
IPI
GO:0048568
P35638 (UniProtKB)
IEA
GO:0051209
P35638 (UniProtKB)
IEA
GO:0051898
P35638 (UniProtKB)
IMP
GO:0070059
P35638 (UniProtKB)
TAS
GO:0070059
P35638 (UniProtKB)
IMP
GO:0070059
P35638 (UniProtKB)
IDA
GO:0070059
P35638 (UniProtKB)
IDA
GO:0070059
P35638 (UniProtKB)
TAS
GO:0090090
P35638 (UniProtKB)
ISS
GO:1902237
P35638 (UniProtKB)
IC
GO:1903026
P35638 (UniProtKB)
IDA
GO:1990440
P35638 (UniProtKB)
ISS
GO:1990440
P35638 (UniProtKB)
IDA
GO:1990440
P35638 (UniProtKB)
IGI
GO:1990440
P35638 (UniProtKB)
IMP
GO:1990440
P35638 (UniProtKB)
IDA
GO:1990617
P35638 (UniProtKB)
IDA
GO:1990617
P35638 (UniProtKB)
IPI
GO:1990622
P35638 (UniProtKB)
IDA
GO:2000016
P35638 (UniProtKB)
IDA
GO:0042803
P35638 (UniProtKB)
ISS
GO:0035976
P35638 (UniProtKB)
ISS

基因相关microRNA

基因相关microRNA

可能调控 DDIT3基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

Reactome

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
Liposarcoma, Myxoid 0.253843535 51 0 BeFree_CTD_human_ORPHANET
Nephrosis 0.2 1 0 CTD_human_RGD
Mammary Neoplasms 0.120271442 2 0 BeFree_CTD_human
Ocular Hypertension 0.120271442 1 0 BeFree_CTD_human
Diabetes Mellitus, Insulin-Dependent 0.12 1 0 CTD_human
Contact Dermatitis 0.12 1 0 CTD_human
Intestinal Diseases 0.12 1 0 CTD_human
Myocardial Infarction 0.12 1 0 CTD_human
Ulcer 0.12 1 0 CTD_human
Juvenile arthritis 0.12 1 0 CTD_human

基因相关服务

基因相关服务

联系方式

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