CASP8AP2 (caspase 8 associated protein 2)

基因基本信息

基因基本信息

symbol:
CASP8AP2
locus group:
protein-coding gene
location:
6q15
gene_family:
alias symbol:
FLASH|CED-4|RIP25|FLJ11208|KIAA1315
alias name:
FLICE-associated huge protein
entrez id:
9994
ensembl gene id:
ENSG00000118412
ucsc gene id:
uc063qcj.1
refseq accession:
NM_001137667
hgnc_id:
HGNC:1510
approved reserved:
1999-12-10

基因染色体位置

基因染色体位置

6q15

基因简述

基因简述

CASP8AP2（CASP8-associated protein 2，也称为FLASH或CRADD）是一种参与细胞凋亡（程序性细胞死亡）和转录调控的多功能蛋白。它的主要生物学功能包括通过与CASP8（半胱天冬酶8，一种关键的凋亡启动酶）相互作用来调节细胞凋亡途径，同时在RNA加工和转录延伸中发挥作用。CASP8AP2的作用位点主要在细胞核内，参与RNA聚合酶II介导的转录过程，并在细胞质中与CASP8形成复合物以调控凋亡信号。该基因的突变可能导致凋亡通路异常，与某些癌症（如神经母细胞瘤）和神经退行性疾病相关。若CASP8AP2过表达，可能过度激活凋亡通路，导致细胞异常死亡；而表达降低则可能抑制凋亡，促进细胞存活或肿瘤发展。CASP8AP2属于含有死亡结构域（Death Domain，DD）的蛋白家族，这类蛋白通常通过同源结构域介导蛋白相互作用，参与凋亡或炎症信号传导。该基因家族成员（如FADD、TRADD）的共性是能够通过死亡结构域招募并激活下游效应分子（如CASP8），从而调控细胞命运。专业术语解释：细胞凋亡（Apoptosis）是受控的细胞自我清除过程；死亡结构域（Death Domain）是蛋白中用于结合其他信号分子的特定结构模块。若CASP8AP2功能异常，可能破坏RNA加工或凋亡平衡，进而影响基因组稳定性或组织稳态。目前尚无广泛认可的中文术语替代"CASP8AP2"，部分文献直译为"半胱天冬酶8相关蛋白2"。

中文English

这种蛋白质是高度相似的FLASH，通过其与caspase 8的FLASH蛋白的研究的死亡效应子结构域（DED）相互作用鉴定的鼠细胞凋亡蛋白质表明该蛋白可能是一个组件的死亡诱导信号复合，包括的Fas受体的Fas结合适配器FADD，和caspase 8，并播放在Fas介导的细胞凋亡的调节作用。在多个转录剪接变异体导致编码相同的蛋白质。[由RefSeq的，2008年11月提供]

OMIM数据库中对CASP8AP2基因的介绍     Wikipedia数据库中对CASP8AP2基因的介绍

基因序列

基因序列

CASP8AP2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
1MAADDDNGDG TSLFDVFSAS PLKNNDEGSL DIYAGLDSAV
41SDSASKSCVP SRNCLDLYEE ILTEEGTAKE ATYNDLQVEY
81 GKCQLQMKE LMKKFKEIQT QNFSLINENQ SLKKNISALI
121KTARVEINRK DEEISNLHQR LSEFPHFRNN HKTARTFDTV
161K TKDLKSRS PHLDDCSKTD HRAKSDVSKD VHHSTSLPNL
201EKEGKPHSDK RSTSHLPTSV EKHCTNGVWS RSHYQVGEGS
241SN EDSRRGR KDIRHSQFNR GTERVRKDLS TGCGDGEPRI
281LEASQRLQGH PEKYGKGEPK TESKSSKFKS NSDSDYKGER
321INS SWEKET PGERSHSRVD SQSDKKLERQ SERSQNINRK
361EVKSQDKEER KVDQKPKSVV KDQDHWRRSE RASLPHSKNE
401ITFS HNSSK YHLEERRGWE DCKRDKSVNS HSFQDGRCPS
441SLSNSRTHKN IDSKEVDAMH QWENTPLKAE RHRTEDKRKR
481EQESK EENR HIRNEKRVPT EHLQKTNKET KKTTTDLKKQ
521NEPKTDKGEV LDNGVSEGAD NKELAMKAES GPNETKNKDL
561KLSFMK KLN LTLSPAKKQP VSQDNQHKIT DIPKSSGVCD
601SESSMQVKTV AYVPSISEHI LGEAAVSEHT MGETKSTLLE
641PKVALLA VT EPRIGISETN KEDENSLLVR SVDNTMHCEE
681PICGTETSFP SPMEIQQTES LFPSTGMKQT INNGRAAAPV
721VMDVLQTD V SQNFGLELDT KRNDNSDYCG ISEGMEMKVA
761LSTTVSETTE SILQPSIEEA DILPIMLSED NNPKFEPSVI
801VTPLVESKS CHLEPCLPKE TLDSSLQQTE LMDHRMATGE
841TNSVYHDDDN SVLSIDLNHL RPIPEAISPL NSPVRPVAKV
881LRNESPPQVP VYNNSHKDV FLPNSAHSTS KSQSDLNKEN
921QKPIYKSDKC TEADTCKNSP LDELEEGEIR SDSETSKPQE
961SFEKNSKRRV S ADVRKSKT IPRRGKSTVC LDKDSRKTHV
1001RIHQTNNKWN KRPDKSSRSS KTEKKDKVMS TSSLEKIVPI
1041IAVPSSEQEI MH MLRMIRK HVRKNYMKFK AKFSLIQFHR
1081IIESAILSFT SLIKHLNLHK ISKSVTTLQK NLCDIIESKL
1121KQVKKNGIVD RLF EQQLPD MKKKLWKFVD DQLDYLFAKL
1161KKILVCDSKS FGRDSDEGKL EKTSKQNAQY SNSQKRSVDN
1201SNRELLKEKL SKSE DPVHY KSLVGCKKSE ENYQDQNNSS
1241INTVKHDIKK NFNICFDNIK NSQSEERSLE VHCPSTPKSE
1281KNEGSSIEDA QTSQH ATLK PERSFEILTE QQASSLTFNL
1321VSDAQMGEIF KSLLQGSDLL DSSVNCTEKS EWELKTPEKQ
1361LLETLKCESI PACTTE ELV SGVASPCPKM ISDDNWSLLS
1401SEKGPSLSSG LSLPVHPDVL DESCMFEVST NLPLSKDNVC
1441SVEKSKPCVS SILLEDL AV SLTVPSPLKS DGHLSFLKPD
1481MSSSSTPEEV ISAHFSEDAL LEEEDASEQD IHLALESDNS
1521SSKSSCSSSW TSRSVAPG F QYHPNLPMHA VIMEKSNDHF
1561IVKIRRATPS TSSGLKQSMM PDELLTSLPR HGKEADEGPE
1601KEYISCQNTV FKSVEELEN SNKNVDGSKS THEEQSSMIQ
1641TQVPDIYEFL KDASDKMGHS DEVADECFKL HQVWETKVPE
1681SIEELPSMEE ISHSVGEHLP NTYVDLTKD PVTETKNLGE
1721FIEVTVLHID QLGCSGGNLN QSAQILDNSL QADTVGAFID
1761LTQDASSEAK SEGNHPALAV E DLGCGVIQ VDEDNCKEEK
1801AQVANRPLKC IVEETYIDLT TESPSSCEVK KDELKSEPGS
1841NCDNSELPGT LHNSHKKRRN IS DLNHPHK KQRKETDLTN
1881KEKTKKPTQD SCENTEAHQK KASKKKAPPV TKDPSSLKAT
1921PGIKDSSAAL ATSTSLSAKN VIK KKGEII ILWTRNDDRE
1961ILLECQKRGP SFKTFAYLAA KLDKNPNQVS ERFQQLMKLF
2001EKSKCR
结构预测来自 AlphaFold DB（UniProt: Q9UKL3），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

基因突变

基因突变

CASP8AP2基因的碱基突变：           仅显示部分snp
rs172385       rs292230       rs292231       rs292232       rs292233       rs292259       rs292260       rs292261       rs292262       rs292263       rs294323       rs294324       rs369328       rs392915       rs395853       rs401857       rs409320      

基因表达

基因表达

CASP8AP2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
AATAGGATCATGGCAGCAG
57
TGTTCTTAAGAGGAGAAGCAG
57
CCACTTCTACAAGTCTTTCTGC
59
CCGGTCATCATTTCTTGTCC
59
TCTTCACCAAAGATTGTCTGAG
58
AGATTTGGCAGTGAAGTGC
59
CTTACTACAGGTTTGACCTCCT
59
AGTCACCACCTGTAGTTCC
59
TCTTCACCAAAGATTGTCTGAG
58
AGATTTGGCAGTGAAGTGC
59
TCACCAAAGAAATGATGACCG
59
ACTTGGCGGCTAAATATGC
59
CCACTTCTACAAGTCTTTCTGC
59
CCGGTCATCATTTCTTGTCC
59
GTAGCTGGAACTACAGGTGG
60
AACTTGTTCCATCACCATTGTC
60
ACAGTGCTGTTTCTGACAG
58
CAGTCAGGATCTCTTCATATAAGTC
58
TCTTCACCAAAGATTGTCTGAG
58
GATTTGGCAGTGAAGTGCT
59

转录因子

转录因子

      尚未收录相关数据

基因本体信息

CASP8AP2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

CASP8AP2基因的本体（GO）信息：

GO库代码
对应的蛋白质
来源代码
GO:0002020
A0A087WTW5 (UniProtKB)
IEA
GO:0003677
A0A087WTW5 (UniProtKB)
IEA
GO:0006919
A0A087WTW5 (UniProtKB)
IEA
GO:0008625
A0A087WTW5 (UniProtKB)
IEA
GO:0008656
A0A087WTW5 (UniProtKB)
IEA
GO:0042802
A0A087WTW5 (UniProtKB)
IEA
GO:0003677
Q9UKL3 (UniProtKB)
IEA
GO:0003714
Q9UKL3 (UniProtKB)
IDA
GO:0005123
Q9UKL3 (UniProtKB)
TAS
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005515
Q9UKL3 (UniProtKB)
IPI
GO:0005634
Q9UKL3 (UniProtKB)
IDA
GO:0005737
Q9UKL3 (UniProtKB)
IDA
GO:0005737
Q9UKL3 (UniProtKB)
IDA
GO:0005739
Q9UKL3 (UniProtKB)
IDA
GO:0006351
Q9UKL3 (UniProtKB)
IEA
GO:0006355
Q9UKL3 (UniProtKB)
IEA
GO:0006919
Q9UKL3 (UniProtKB)
ISS
GO:0006919
Q9UKL3 (UniProtKB)
IMP
GO:0007049
Q9UKL3 (UniProtKB)
IEA
GO:0007165
Q9UKL3 (UniProtKB)
TAS
GO:0008625
Q9UKL3 (UniProtKB)
ISS
GO:0008625
Q9UKL3 (UniProtKB)
IMP
GO:0008656
Q9UKL3 (UniProtKB)
ISS
GO:0016505
Q9UKL3 (UniProtKB)
ISS
GO:0016605
Q9UKL3 (UniProtKB)
IDA
GO:0032184
Q9UKL3 (UniProtKB)
IDA
GO:0036337
Q9UKL3 (UniProtKB)
IMP
GO:0071260
Q9UKL3 (UniProtKB)
IEP
GO:0097190
Q9UKL3 (UniProtKB)
TAS
GO:1903507
Q9UKL3 (UniProtKB)
IEA

基因相关microRNA

基因相关microRNA

可能调控 CASP8AP2基因的相关microRNA：     

基因相互作用关系

基因相互作用关系

BioGrid
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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
Colorectal Neoplasms 0.005091382 1 0 GAD_LHGDN
Lymphoma, Non-Hodgkin 0.002367032 1 0 GAD
Leukemia, Lymphocytic, Acute, L1 0.001357209 5 0 BeFree
Colorectal Carcinoma 0.000814326 3 0 BeFree
Carcinogenesis 0.000542884 2 0 BeFree
Neoplasm, Residual 0.000542884 2 0 BeFree
Colorectal Cancer 0.000542884 2 0 BeFree
MULTICYSTIC RENAL DYSPLASIA, BILATERAL 0.000542884 2 0 BeFree
HIV Infections 0.000271442 1 0 BeFree
Precursor Cell Lymphoblastic Leukemia Lymphoma 0.000271442 1 0 BeFree

基因相关文献

基因相关文献

OAZ1/ CASP8AP2 double knockout enhances recombinant protein production in HEK293 cells through metabolic reprogramming and antiapoptotic effects.
Zhang J, Zhang L, Hou L, Li W, Geng S, Wang X, Wang T Acta Biochim Biophys Sin (Shanghai) IF: 4.5 2026-01-27
Manganese exposure: a study on apoptosis and Ferroptosis in mouse Leydig and Sertoli cells.
He J, Li T, Su Y, Liang Y, Tian Y, Cai R, Zhang J, Lu X, Tan J Toxicol Res (Camb) IF: 2.9 2025-08-00
FLASH protects ZEB1 from degradation and supports cancer cells' epithelial-to-mesenchymal transition.
Abshire C F, Carroll J L, Dragoi A-M Oncogenesis IF: 6.0 2016-08-16
Significance of CASP8AP2 and H2AFZ expression in survival and risk of relapse in children with acute lymphoblastic leukemia.
Juárez-Velázquez Rocío, Reyes-León Adriana, Salas-Labadía Consuelo, Rivera-Luna Roberto, Velasco-Hidalgo Liliana, López-Hernández Gerardo, López-Santiago Norma, Paredes-Aguilera Rogelio, Domínguez-López Aarón, Bernáldez Roberto, Pérez-Vera Patricia Leuk Lymphoma 2015-06-16
[Research Progress on Expression Regulation, Function and Clinical Significance of CASP8AP2 Gene].
Li Zhi-Gang, Wu Min-Yuan, Jia Hong-Ti Zhongguo Shi Yan Xue Ye Xue Za Zhi 2015-11-24
[Clinical significance of CASP8AP2 gene methylation in childhood acute lymphoblastic leukemia].
Liu Fei-Fei, Liu Xiao, Wang Kai-Ling, Li Wei-Jing, Deng Guo-Ren, Gao Chao, Zhao Xiao-Xi, Wu Min-Yuan, Cui Lei, Li Zhi-Gang Zhongguo Shi Yan Xue Ye Xue Za Zhi 2015-10-16
Low expressions of ARS2 and CASP8AP2 predict relapse and poor prognosis in pediatric acute lymphoblastic leukemia patients treated on China CCLG-ALL 2008 protocol.
Cui Lei, Gao Chao, Zhang Rui-Dong, Jiao Ying, Li Wei-Jing, Zhao Xiao-Xi, Liu Shu-Guang, Yue Zhi-Xia, Zheng Hu-Yong, Deng Guo-Ren, Wu Min-Yuan, Li Zhi-Gang, Jia Hong-Ti Leuk Res IF: 2.4 2015-03-24
Changes in DNA methylation are associated with the development of drug resistance in cervical cancer cells.
Chen Chih-Cheng, Lee Kuan-Der, Pai Mei-Yu, Chu Pei-Yi, Hsu Chia-Chen, Chiu Chia-Chen, Chen Li-Tzong, Chang Jang-Yang, Hsiao Shu-Huei, Leu Yu-Wei Cancer Cell Int IF: 2.740 2015-10-14
Characterization of genomic imbalances in diffuse large B-cell lymphoma by detailed SNP-chip analysis.
Scholtysik René, Kreuz Markus, Hummel Michael, Rosolowski Maciej, Szczepanowski Monika, Klapper Wolfram, Loeffler Markus, Trümper Lorenz, Siebert Reiner, Küppers Ralf, Int J Cancer IF: 4.9 2015-02-26
Solution NMR structures of homeodomains from human proteins ALX4, ZHX1, and CASP8AP2 contribute to the structural coverage of the Human Cancer Protein Interaction Network.
Xu Xianzhong, Pulavarti Surya V S R K, Eletsky Alexander, Huang Yuanpeng Janet, Acton Thomas B, Xiao Rong, Everett John K, Montelione Gaetano T, Szyperski Thomas J Struct Funct Genomics 2015-07-08

基因相关服务

基因相关服务

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基因相关评论

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