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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CCT8L2 Gene

protein-coding   GIFtS: 39
GCID: GC22M017071

chaperonin containing TCP1, subunit 8 (theta)-like 2

 Explore 4 diseases affiliated with
CCT8L2 via our new
 Human Malady Compendium 
Biological research products
for CCT8L2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Chaperonin Containing TCP1, Subunit 8 (Theta)-Like 21 2
CESK11 2 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NC_018933.1  NT_011519.10  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for CCT8L2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Cytoplasm (By similarity)
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

CCT8L2 Protein expression data from MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_055221.1  
ENSEMBL proteins: 
 ENSP00000353048  

Human Recombinant Protein Products: 
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Uscn Proteins for CCT8L2

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

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


CCT8L2 for ontologies           About GeneDecksing



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Uscn ELISAs and CLIAs for CCT8L2


(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

CCT8L2 for domains           About GeneDecksing

2 InterPro domains/families:
 IPR017998 Chaperone_TCP-1
 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


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

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

miRNA
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Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005253anion channel activity TAS10585773
GO:0005524ATP binding IEA--
GO:0015269calcium-activated potassium channel activity TAS10585773


CCT8L2 for ontologies           About GeneDecksing



(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
About This Section



Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CCT8L2

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006810transport TAS10585773
GO:0044267cellular protein metabolic process IEA--


CCT8L2 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section
Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CCT8L2
Search CenterWatch for drugs/clinical trials and news about CCT8L2 / TCPQM 

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 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,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

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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Inhib. RNA
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Clone
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Additional cDNA 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 NM_014406 AA974111 AA969090 BG723375 BG772549 
BI831030 BM560079 BC022006 BM559457 BI562144 CR456508 BI459091 AW014427 
BI829375 

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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

CCT8L2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGGAAAAAA

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See CCT8L2 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CCT8L2

SOURCE GeneReport for Unigene cluster: Hs.128342
    SABiosciences Custom PCR Arrays for CCT8L2
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CCT8L2

(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)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for CCT8L2 gene from 7/25 species (see all 25)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves F1NEF2_CHICK6
chaperonin containing TCP1, subunit 8 (theta)
29(a)
possible ortholog
1(107461264-107472468)
lizard
(Anolis carolinensis)
Reptilia CCT8L26
CCT86
--
37(a)
29(a)
1 ↔ 1
possible ortholog
GL343655.1(160673-162319)
3(146563678-146577394)
zebrafish
(Danio rerio)
Actinopterygii cct86
chaperonin containing TCP1, subunit 8 (theta)
30(a)
possible ortholog
10(25963452-25979373)
fruit fly
(Drosophila melanogaster)
Insecta CG82586
--
29(a)
possible ortholog
2R(4792347-4794506)
worm
(Caenorhabditis elegans)
Secernentea cct-86
T-complex protein 1 subunit theta
25(a)
possible ortholog
IV(1087575-1093920)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G039606
TCP-1/cpn60 chaperonin family protein
25(a)
possible ortholog
3(1024258-1027891)
rice
(Oryza sativa)
Liliopsida --
T-complex protein, putative, expressed
25(a)
possible ortholog
3(33585622-33590944)


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)
About This Section
Paralogs for CCT8L2 gene
CCT82  
2 SIMAP similar genes for CCT8L2 using alignment to 1 protein entry:     TCPQM_HUMAN:
CCT8L1P    CCT8

CCT8L2 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

10/125 NCBI SNPs in CCT8L2 are shown (see all 125    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
--17071177(+) CACTGC/TGTTTT 1 -- ds50010--------
rs1405738441,2
--17071276(+) TAGAAA/GCACAA 1 -- ds50010--------
rs1442814181,2
--17071342(+) CTTTGG/TGAGGC 1 -- ds50010--------
rs59935271,2
C,A,H,--17071452(+) GGCGCA/GCACCT 1 -- ds50014Minor allele frequency- G:0.00NA CSA 7
rs110892531,2
--17071513(+) GAGGCG/AGAGGT 1 -- ds50011Minor allele frequency- A:0.50CSA 2
rs1891731001,2
--17071673(+) AAGAAA/GGTGAA 1 -- ut310--------
rs1815880991,2
--17071694(+) AACACA/GGAATA 1 -- ut310--------
rs1850708491,2
--17071756(+) TTTATC/TGAGGG 1 -- ut310--------
rs178532131,2
C--17071830(+) TTCTTA/GGAGTC 2 S syn1 ese32Minor allele frequency- G:0.00NA 4554

HapMap Linkage Disequilibrium report for CCT8L2 (17071648 - 17073700 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 11 variations for CCT8L2
     11 CNVs: 29713 29714 5350 34559 5351 50793 4115 53817 8898 53732 50794

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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.)
About This Section

CCT8L2 for disorders           About GeneDecksing

4 diseases for CCT8L2:    About MalaCards
pneumonia    tuberculosis    malaria    mycobacterium tuberculosis


Export disorders for CCT8L2 gene to outside databases

(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)
About This Section

PubMed articles for CCT8L2 gene integrated from 9 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. (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. (1999)
  3. Chaperonin genes on the rise: new divergent classes a nd intense duplication in human and other vertebrate genomes. (PubMed id 20193073)1 Mukherjee K....Brocchieri L. (2010)
  4. 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. (2004)
  5. 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. (2002)
  6. The DNA sequence of human chromosome 22. (PubMed id 10591208)2 Dunham I....O'Brien K.P. (1999)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 150160 HGNC: 15553 AceView: CESK1 Ensembl:ENSG00000198445 euGenes: HUgn150160
ECgene: CCT8L2 H-InvDB: CCT8L2

(According to HUGE)
About This Section
  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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.)
About This Section
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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section

 
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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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VWF
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von Willebrand factor
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