CCT8L2 (chaperonin containing TCP1 subunit 8 like 2)

Gene Basic Information

Gene Basic Information

symbol:
CCT8L2
locus group:
protein-coding gene
location:
22q11.1
gene_family:
alias symbol:
CESK1
alias name:
None
entrez id:
150160
ensembl gene id:
ENSG00000198445
ucsc gene id:
uc002zlp.2
refseq accession:
NM_014406
hgnc_id:
HGNC:15553
approved reserved:
2007-07-31

Chromosome Location

Chromosome Location

22q11.1

Gene Summary

Gene Summary

CCT8L2（Chaperonin Containing TCP1 Subunit 8 Like 2）属于CCT基因家族，该家族编码分子伴侣蛋白复合体CCT（也称为TRiC）的亚基，负责协助蛋白质的正确折叠和组装。CCT复合体由8个不同的亚基组成，在真核细胞中高度保守，主要参与细胞骨架蛋白（如肌动蛋白和微管蛋白）的折叠过程。CCT8L2是CCT8的旁系同源基因（paralog），可能通过基因复制产生，但具体功能尚不明确。CCT8L2的生物学功能可能与CCT8类似，参与蛋白质折叠和维持细胞稳态，但其表达水平通常较低，且组织分布可能受限。目前关于CCT8L2突变的研究较少，但CCT家族其他成员的突变可能导致蛋白质错误折叠，进而引发神经退行性疾病或癌症。CCT8L2过表达可能干扰CCT复合体的正常功能，影响其他蛋白质的折叠效率，而降低表达可能影响特定组织或发育阶段的蛋白质稳态。CCT基因家族的共性在于它们编码的亚基共同形成桶状复合体，依赖ATP水解为错误折叠的蛋白质提供折叠微环境。由于CCT8L2研究较少，其与疾病的关系尚不明确，但CCT复合体功能异常与阿尔茨海默病、帕金森病等蛋白质构象疾病相关。需要注意的是，CCT8L2可能是一个假基因（pseudogene）或功能冗余基因，其生物学意义仍需进一步验证。

ChineseEnglish

None

OMIM entry for CCT8L2     Wikipedia entry for CCT8L2

Gene Sequence

Gene Sequence

Nucleotide sequence of CCT8L2:[NCBI]
Loading Gene Browser...

Encoded Protein

Encoded Protein

Protein Sequence
1MDSTVPSALE LPQRLALNPR ESPRSPEEEE PHLLSSLAAV
41QTLASVIRPC YGPHGRQKFL VTMKGETVCT GCATAILRAL
81 ELEHPAAWL LREAGQTQAE NSGDGTAFVV LLTEALLEQA
121EQLLKAGLPR PQLREAYATA TAEVLATLPS LAIQSLGPLE
161D PSWALHSV MNTHTLSPMD HLTKLVAHAC WAIKELDGSF
201KPERVGVCAL PGGTLEDSCL LPGLAISGKL CGQMATVLSG
241AR VALFACP FGPAHPNAPA TARLSSPADL AQFSKGSDQL
281LEKQVGQLAA AGINVAVVLG EVDEETLTLA DKYGIVVIQA
321RSW MEIIYL SEVLDTPLLP RLLPPQRPGK CQRVYRQELG
361DGLAVVFEWE CTGTPALTVV LRGATTQGLR SAEQAVYHGI
401DAYF QLCQD PRLIPGAGAT EMALAKMLSD KGSRLEGPSG
441PAFLAFAWAL KYLPKTLAEN AGLAVSDVMA EMSGVHQGGN
481LLMGV GTEG IINVAQEGVW DTLIVKAQGF RAVAEVVLQL
521VTVDEIVVAK KSPTHQEIWN PDSKKTKKHP PPVETKKILG
561LNN
结构预测来自 AlphaFold DB（UniProt: Q96SF2），颜色表示 pLDDT 置信度（深蓝高、黄橙低）。

Gene Variants

Gene Variants

SNP variants of CCT8L2:           Showing partial SNPs
rs2070503       rs2236639       rs5746662       rs5746663       rs5746664       rs5747988       rs5747994       rs5747999       rs5748002       rs5748004       rs5993527       rs5993539       rs5993540       rs9618485       rs11089253       rs17853213       rs41277596      

Gene Expression

Gene Expression

Tissue expression of CCT8L2:    [UniProt]

Gene expression across tissues

Gene Primers

Gene Primers

Forward Primer
Forward Tm
Reverse Primer
Reverse Tm
Score
GGGAACTGAAGGGATAATAAATGTG
60
TTTGACTATTAGGGTGTCCCA
59
CGTGGTGATTCAAGCTAGG
58
TGTGTCCAACACCTCACTC
60
GACGTGATGGCAGAAATGAG
59
TTCCCACACCCATTAGGAG
59

Transcription Factors

Transcription Factors

      No data available

Gene Ontology

Subcellular localization of CCT8L2 (and its protein):

[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
  • plasma membrane
  • cytoplasm
  • extracellular
  • golgi
  • vesicle
  • cytoskeleton
  • endoplasmic reticulum
  • nucleus
  • endosome
  • lysosome
  • mitochondrion

Gene Ontology (GO) terms for CCT8L2:

GO ID
Protein
Source DB
GO:0005253
Q96SF2 (UniProtKB)
TAS
GO:0005524
Q96SF2 (UniProtKB)
IEA
GO:0005737
Q96SF2 (UniProtKB)
IEA
GO:0006810
Q96SF2 (UniProtKB)
TAS
GO:0015269
Q96SF2 (UniProtKB)
TAS
GO:0071805
Q96SF2 (UniProtKB)
IEA
GO:0098656
Q96SF2 (UniProtKB)
IEA

Related microRNA

Related microRNA

microRNAs potentially regulating CCT8L2:     

Gene Interactions

Gene Interactions

String
Loading…
Interacting Gene Interaction Source/Score

Gene Pathways

Gene Pathways

Related Diseases

Related Diseases

Disease Score NofPmids NofSnps Source
Disease Score NofPmids NofSnps Source

Related Publications

Related Publications

Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes.
Mukherjee Krishanu, Conway de Macario Everly, Macario Alberto J L, Brocchieri Luciano BMC Evol Biol IF: 3.4 2010-04-12

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