CARD9 (caspase recruitment domain family member 9)

基因基本信息

基因基本信息

symbol:
CARD9
locus group:
protein-coding gene
location:
9q34.3
gene_family:
alias symbol:
None
alias name:
None
entrez id:
64170
ensembl gene id:
ENSG00000187796
ucsc gene id:
uc004chg.4
refseq accession:
NM_052813
hgnc_id:
HGNC:16391
approved reserved:
2001-08-13

基因染色体位置

基因染色体位置

9q34.3
基因染色体位置图

基因简述

基因简述

CARD9（Caspase recruitment domain-containing protein 9）是一种在免疫系统中起关键作用的基因，属于CARD（Caspase recruitment domain）基因家族。该家族成员通常含有CARD结构域，这是一种蛋白质相互作用模块，参与调控炎症反应和细胞凋亡（程序性细胞死亡）。CARD9主要在髓系细胞（如巨噬细胞和树突状细胞）中表达，其功能是通过识别病原体相关分子模式（PAMP）来激活下游信号通路，如NF-κB（核因子κB）和MAPK（丝裂原活化蛋白激酶）通路，从而促进炎症因子（如IL-6、TNF-α）的产生，增强机体对真菌和细菌的防御能力。CARD9的突变可能导致其功能丧失，与多种免疫缺陷性疾病相关，特别是慢性黏膜皮肤念珠菌病（CMC），患者表现为反复真菌感染。此外，CARD9突变还与炎症性肠病（IBD）和某些自身免疫性疾病有关。如果CARD9过表达，可能引发过度炎症反应，导致组织损伤或自身免疫疾病；而降低表达则可能削弱免疫防御，增加感染风险。CARD9基因家族的共性在于它们通过CARD结构域介导蛋白质-蛋白质相互作用，参与先天免疫和炎症反应的调控。例如，家族成员CARD11和CARD14也分别参与淋巴细胞和皮肤炎症的信号传导。CARD9的功能依赖于与下游适配蛋白（如BCL10和MALT1）的结合，形成信号复合物以激活免疫应答。研究还发现，CARD9在肠道菌群调控中发挥作用，其异常可能影响微生物稳态，进而关联代谢或神经性疾病。总之，CARD9是免疫调控的核心基因，其表达水平或突变状态直接影响宿主防御和炎症平衡，成为感染和免疫疾病治疗的潜在靶点。

The protein encoded by this gene is a member of the CARD protein family, which is defined by the presence of a characteristic caspase-associated recruitment domain (CARD). CARD is a protein interaction domain known to participate in activation or suppression of CARD containing members of the caspase family, and thus plays an important regulatory role in cell apoptosis. This protein was identified by its selective association with the CARD domain of BCL10, a postive regulator of apoptosis and NF-kappaB activation, and is thought to function as a molecular scaffold for the assembly of a BCL10 signaling complex that activates NF-kappaB. Several alternatively spliced transcript variants have been observed, but their full-length nature is not clearly defined. [provided by RefSeq, Jul 2008]

由该基因编码的蛋白质的卡片是蛋白质家族，其由特征胱天蛋白酶相关募集域（CARD）的存在下所定义的成员。 CARD是已知参与激活或含有胱天蛋白酶家族的成员卡的抑制蛋白相互作用结构域，并因此在细胞凋亡重要的调节作用。该蛋白质是由它与BCL10，细胞凋亡和NF-κB活化的阳性调节器的CARD结构域选择性关联识别，并且被认为是用作用于激活的NF-κB的一个BCL10信令复杂的组装分子支架。几个可变剪接转录变异体已经观察到，但它们的全长性质没有明确规定。 [由RefSeq的，2008年7月提供]

OMIM数据库中对CARD9基因的介绍     Wikipedia数据库中对CARD9基因的介绍

基因序列

基因序列

CARD9基因的碱基序列：[NCBI]
Loading Gene Browser...

基因突变

基因突变

CARD9基因的碱基突变：           仅显示部分snp
rs1135314       rs4073153       rs10125949       rs11145750       rs12002664       rs73670236       rs77469895       rs79796915       rs80232816       rs111473929       rs113327039       rs114929636       rs116038396       rs137910953       rs138344913       rs140362628       rs141310444      

基因表达

基因表达

CARD9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
GAGGAGAACTACGACCTGG
59
TTGAGCTGGTCAATCTCCA
59
TCTCCATGATCATCGACGC
60
TCATCTTTGGAGCTCAGCA
59
AGCTCTCAGACAAAGGCTG
60
TCCTTTCTGCATCTTCCTGAG
60
GAGGAGAACTACGACCTGG
59
TTGAGCTGGTCAATCTCCA
59
GAGGAGAACTACGACCTGG
59
TTGAGCTGGTCAATCTCCA
59
GAATGGGAAGAGAAATATCGAAGAG
60
CCTCCAGAACCAGTTCCAG
60
TCTATGACCACAGAGCTCC
58
TTTGTCTGAGAGCTGGGTG
60
TTTGAGAACTACCGCAGGA
59
CACCAGATTCCTCGTTCCA
59
GAGGAGAACTACGACCTGG
59
TGAGCTGGTCAATCTCCAG
59
CTATGACCACAGAGCTCCG
60
CTTTGTCTGAGAGCTGGGT
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CARD9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

CARD9基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0002223
Q9H257 (UniProtKB)
TAS
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005515
Q9H257 (UniProtKB)
IPI
GO:0005737
Q9H257 (UniProtKB)
IDA
GO:0005829
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0005886
Q9H257 (UniProtKB)
TAS
GO:0007249
Q9H257 (UniProtKB)
IEA
GO:0009620
Q9H257 (UniProtKB)
IEA
GO:0032494
Q9H257 (UniProtKB)
IEA
GO:0032495
Q9H257 (UniProtKB)
IEA
GO:0032755
Q9H257 (UniProtKB)
IEA
GO:0032760
Q9H257 (UniProtKB)
IEA
GO:0032874
Q9H257 (UniProtKB)
IDA
GO:0042493
Q9H257 (UniProtKB)
IEA
GO:0042534
Q9H257 (UniProtKB)
IEA
GO:0042803
Q9H257 (UniProtKB)
IPI
GO:0042981
Q9H257 (UniProtKB)
IEA
GO:0043123
Q9H257 (UniProtKB)
IEP
GO:0043330
Q9H257 (UniProtKB)
IEA
GO:0045076
Q9H257 (UniProtKB)
IEA
GO:0045087
Q9H257 (UniProtKB)
IEA
GO:0045408
Q9H257 (UniProtKB)
IEA
GO:0046330
Q9H257 (UniProtKB)
IDA
GO:0050700
Q9H257 (UniProtKB)
IPI
GO:0050830
Q9H257 (UniProtKB)
IEA
GO:0051607
Q9H257 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CARD9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
Candidiasis, Familial, 2 0.36 2 5 CLINVAR_CTD_human_UNIPROT
Ulcerative Colitis 0.250282454 6 3 BeFree_CTD_human_GAD_GWASCAT
Ankylosing spondylitis 0.243181358 3 1 BeFree_CTD_human_GAD_GWASCAT
Inflammatory Bowel Diseases 0.241085767 6 2 BeFree_CTD_human_GWASCAT
IGA Glomerulonephritis 0.24 1 1 CTD_human_GWASCAT
Crohn Disease 0.125005506 2 1 BeFree_GAD_GWASCAT
Candidiasis, Chronic Mucocutaneous 0.121085767 4 0 BeFree_ORPHANET
Mycoses 0.002714419 10 0 BeFree
Candidiasis 0.001085767 4 0 BeFree
Tinea 0.000814326 3 0 BeFree

基因相关服务

基因相关服务

联系方式

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