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CCT8L2 Gene

protein-coding   GIFtS: 42
GCID: GC22M017071

Chaperonin Containing TCP1, Subunit 8 (Theta)-Like 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Chaperonin Containing TCP1, Subunit 8 (Theta)-Like 21 2
CESK12 3
Putative T-Complex Protein 1 Subunit Theta-Like 22
T-Complex Protein 12

External Ids:    HGNC: 155531   Entrez Gene: 1501602   Ensembl: ENSG000001984457   UniProtKB: Q96SF23   

Export aliases for CCT8L2 gene to outside databases

Previous GC identifers: GC22M015451 GC22M000891


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CCT8L2 Gene:
CCT8L2 (chaperonin containing TCP1, subunit 8 (theta)-like 2) is a protein-coding gene. GO annotations related to this gene include unfolded protein binding and anion channel activity. An important paralog of this gene is CCT8.

UniProtKB/Swiss-Prot: TCPQM_HUMAN, Q96SF2
Function: Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis (By similarity)




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NC_018933.2  NT_187355.1  
Regulatory elements:
   Regulatory transcription factor binding sites in the CCT8L2 gene promoter:
         HOXA9B   HOXA9   HTF   Meis-1b   NF-AT   NF-AT4   NF-AT2   NF-AT3   Meis-1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCCT8L2 promoter sequence
   Search Chromatin IP Primers for CCT8L2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCT8L2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 22q11.1   Ensembl cytogenetic band:  22q11.1   HGNC cytogenetic band: 22q11.1

CCT8L2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CCT8L2 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M017071:  view genomic region     (about GC identifiers)

Start:
17,071,648 bp from pter      End:
17,073,700 bp from pter
Size:
2,053 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: TCPQM_HUMAN, Q96SF2 (See protein sequence)
Recommended Name: Putative T-complex protein 1 subunit theta-like 2  
Size: 557 amino acids; 59388 Da
Caution: Could be the product of a pseudogene
Sequence caution: Sequence=AAI39843.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of
unknown origin in the C-terminal part;
Secondary accessions: A4QPH3 Q9UJS3

Explore the universe of human proteins at neXtProt for CCT8L2: NX_Q96SF2

Explore proteomics data for CCT8L2 at MOPED


See CCT8L2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_055221.1  
ENSEMBL proteins: 
 ENSP00000353048  

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antibodies-online peptides for CCT8L2

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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Selected InterPro protein domains (see all 6):
 IPR017998 Chaperone_TCP-1
 IPR027410 TCP-1-like_intermed
 IPR027409 GroEL-like_apical_dom
 IPR012721 Chap_CCT_theta
 IPR002423 Cpn60/TCP-1

Graphical View of Domain Structure for InterPro Entry Q96SF2

ProtoNet protein and cluster: Q96SF2

UniProtKB/Swiss-Prot: TCPQM_HUMAN, Q96SF2
Similarity: Belongs to the TCP-1 chaperonin family


Find genes that share domains with CCT8L2           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: TCPQM_HUMAN, Q96SF2
Function: Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis (By similarity)

     Gene Ontology (GO): 4 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005253anion channel activity TAS10585773
GO:0005524ATP binding IEA--
GO:0015269calcium-activated potassium channel activity TAS10585773
GO:0051082unfolded protein binding ----
     
Find genes that share ontologies with CCT8L2           About GenesLikeMe


Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for CCT8L2

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
TCPQM_HUMAN, Q96SF2: Cytoplasm (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol2
nucleus2
mitochondrion1
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IEA--

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(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CCT8L2
Interactions:

    Search GeneGlobe Interaction Network for CCT8L2

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for CCT8L2 (ENSP000003530484) via UniProtKB, MINT, STRING, and/or I2D (see all 71)
InteractantInteraction Details
GeneCardExternal ID(s)
CCT3ENSP000003572444STRING: ENSP00000357244
CCT7ENSP000002580914STRING: ENSP00000258091
CCT2ENSP000002993004STRING: ENSP00000299300
CCT4ENSP000003779584STRING: ENSP00000377958
CCT5ENSP000002803264STRING: ENSP00000280326
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Gene Ontology (GO): 5 biological process terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006457protein folding ----
GO:0006810transport TAS10585773
GO:0006820anion transport TAS10585773
GO:0044267cellular protein metabolic process IEA--
GO:0071805potassium ion transmembrane transport TAS10585773

Find genes that share ontologies with CCT8L2           About GenesLikeMe



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for CCT8L2 (TCPQM)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for CCT8L2 gene: 
NM_014406.4  

Unigene Cluster for CCT8L2:

Chaperonin containing TCP1, subunit 8 (theta)-like 2
Hs.128342  [show with all ESTs]
Unigene Representative Sequence: NM_014406
1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000359963(uc002zlp.1)
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Additional mRNA sequence: 

BC022006.1 BC033797.1 BC100811.2 BC100812.2 BC100813.1 BC139842.1 CR456508.1 

1 DOTS entry:

DT.105092 

17 AceView cDNA sequences:

BC033797 AI221641 BX109995 AA974111 NM_014406 BG723375 BC022006 AA969090 
BM560079 BI831030 BI562144 BG772549 CR456508 BM559457 BI459091 BI829375 
AW014427 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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CCT8L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: AAGGAAAAAA
CCT8L2 Expression
About this image

CCT8L2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

CCT8L2 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.128342
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In Situ
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(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals and fungi.

Orthologs for CCT8L2 gene from Selected species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Cct8l11 , 5 chaperonin containing TCP1, subunit 8 (theta)-like more1, 5 72.81(n)1
65.79(a)1
  5 (12.35 cM)5
2428911  NM_198621.21  NP_941023.11 
 255160675 
lizard
(Anolis carolinensis)
Reptilia CCT8L26
chaperonin containing TCP1, subunit 8 (theta)-like...
37(a)
1 ↔ 1
GL343655.1(160673-162319)
fruit fly
(Drosophila melanogaster)
Insecta CG82586
--
30(a)
1 → many
2R(4792347-4794506)
worm
(Caenorhabditis elegans)
Secernentea cct-86
Protein CCT-8 (cct-8) mRNA, complete cds
26(a)
1 → many
IV(1087575-1093920) WBGene00021934
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CCT86
Subunit of the cytosolic chaperonin Cct ring compl...
26(a)
1 → many
X(419957-421663) YJL008C


ENSEMBL Gene Tree for CCT8L2 (if available)
TreeFam Gene Tree for CCT8L2 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for CCT8L2 gene
CCT82  
2 SIMAP similar genes for CCT8L2 using alignment to 1 protein entry:     TCPQM_HUMAN:
CCT8L1P    CCT8

Find genes that share paralogs with CCT8L2           About GenesLikeMe



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for CCT8L2 (see all 171)    About this table                                 

Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1846791691,2
--17071150(+) GCTCAA/GATAGT 1 -- ds50010--------
rs1423799781,2
C--17071177(+) CACTGC/TGTTTT 1 -- ds50010--------
rs1405738441,2
--17071276(+) TAGAAA/GCACAA 1 -- ds50010--------
rs1442814181,2
C--17071342(+) CTTTGG/TGAGGC 1 -- ds50010--------
rs59935271,2
C,A,H--17071452(+) GGCGCA/GCACCT 1 -- ds50014Minor allele frequency- G:0.00NA CSA 7
rs110892531,2
C--17071513(+) GAGGCG/AGAGGT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
rs2016291721,2
C--17071583(+) CTCTC-/AAAAAAA 1 -- ds50010--------
rs1891731001,2
--17071673(+) AAGAAA/GGTGAA 1 -- ut310--------
rs1815880991,2
--17071694(+) AACACA/GGAATA 1 -- ut310--------
rs1850708491,2
C--17071756(+) TTTATC/TGAGGG 1 -- ut310--------

HapMap Linkage Disequilibrium report for CCT8L2 (17071648 - 17073700 bp)

Structural Variations
     Database of Genomic Variants (DGV) 9 variations for CCT8L2:    About this table    
Variant IDTypeSubtypePubMed ID
dgv18e196CNV Duplication17116639
dgv540n27CNV Gain19166990
dgv539n27CNV Gain19166990
nsv527637CNV Gain19592680
dgv172e55CNV Gain17911159
nsv471178CNV Gain18288195
dgv723n67CNV Gain20364138
nsv517059CNV Gain+Loss19592680
dgv1376e1CNV Complex17122850

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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  --

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for CCT8L2 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CCT8L2)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A genome annotation-driven approach to cloning the human ORFeome. (PubMed id 15461802)1, 2 Collins J.E.... Dunham I. (Genome Biol. 2004)
  2. Identification of a putative regulatory subunit of a calcium- activated potassium channel in the dup(3q) syndrome region and a related sequence on 22q11.2. (PubMed id 10585773)1, 2 Riazi M.A.... McDermid H.E. (Genomics 1999)
  3. A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PubMed id 23936387)1 A9stensson M....Torinsson-Naluai A.8. (PLoS ONE 2013)
  4. Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes. (PubMed id 20193073)1 Mukherjee K....Brocchieri L. (BMC Evol. Biol. 2010)
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  6. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  7. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I.... Wright H. (Nature 1999)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 150160 HGNC: 15553 AceView: CESK1 Ensembl:ENSG00000198445 euGenes: HUgn150160
ECgene: CCT8L2 H-InvDB: CCT8L2

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for CCT8L2 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for CCT8L2 gene:
Search GeneIP for patents involving CCT8L2

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from genOway)
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 OriGene ORF clones in mouse, rat for CCT8L2   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for CCT8L2   OriGene Custom Protein Services for CCT8L2  

 
 
 Block miRNA regulation of human, mouse, rat CCT8L2 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing CCT8L2
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CCT8L2 Predesigned siRNA for gene silencing in human, mouse, rat CCT8L2
 QuantiFast Probe-based Assays in human, mouse, rat CCT8L2 QuantiTect SYBR Green Assays in human, mouse, rat CCT8L2
 Custom PCR Arrays for CCT8L2 Search Chromatin IP Primers for CCT8L2
 Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CCT8L2  Search GeneGlobe Interaction Network for CCT8L2
 Regulatory tfbs in CCT8L2 promoter
 GenScript Custom Purified and Recombinant Proteins Services for CCT8L2 GenScript cDNA clones with any tag delivered in your preferred vector for CCT8L2
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 Plasmid Preparation Custom Peptide Services
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 Search Tocris compounds for CCT8L2 (TCPQM)
 Browse Sino Biological Proteins
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 Search Sino Biological for antibodies, proteins & pathways
 Protein Production Services
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 CCT8L2 antibodies
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 See all of Abcam's Antibodies, Kits and Proteins for CCT8L2
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 Abcam protocols and scientific support
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 Proteins for CCT8L2
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 Browse ESI BIO Cell Lines and PureStem Progenitors for CCT8L2
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCT8L2
 Browse SwitchGear 3'UTR luciferase reporter plasmids for CCT8L2
 SwitchGear Promoter luciferase reporter plasmids for CCT8L2
 ThermoFisher Antibodies for CCT8L2
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CCT8L2
 Browse compounds at ApexBio
 Search Addgene for plasmids for CCT8L2
  Search eBioscience for proteins for CCT8L2
  Search eBioscience for elisas for CCT8L2
  eBioscience FlowRNA Probe Sets
 genOway: Develop your customized and physiologically relevant rodent model for CCT8L2
 antibodies-online antibodies for CCT8L2 (40 products)
 antibodies-online kits for CCT8L2 (2 products)
 antibodies-online peptides for CCT8L2
 antibodies-online proteins for CCT8L2 (3 products)
       
GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 7 Oct 2014

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