Aliases for CCT8L2 Gene
Aliases for CCT8L2 Gene
External Ids for CCT8L2 Gene
- HGNC: 15553
- Entrez Gene: 150160
- Ensembl: ENSG00000198445
- UniProtKB: Q96SF2
Previous GeneCards Identifiers for CCT8L2 Gene
- GC22M015451
- GC22M017071
- GC22M000891
Summaries for CCT8L2 Gene
GeneCards Summary for CCT8L2 Gene
CCT8L2 (Chaperonin Containing TCP1 Subunit 8 Like 2) is a Protein Coding gene. GO annotations related to this gene include calcium-activated potassium channel activity and anion channel activity. An important paralog of this gene is CCT8.
UniProtKB/Swiss-Prot for CCT8L2 Gene
-
Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis.
No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CCT8L2 Gene
Genomics for CCT8L2 Gene
Regulatory Elements for CCT8L2 Gene
| GeneHancer Identifier | Enhancer Score | Enhancer Sources | Gene-Enhancer Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites within enhancer | Gene Targets for Enhancer |
|---|---|---|---|---|---|---|---|---|
| GH22G016586 | 0.8 | ENCODE | 0.4 | +6.4 | 6445 | 0.2 | HDAC1 LEF1 PKNOX1 JUN BACH1 E2F7 CEBPG ZNF316 ZNF366 FOXK2 | KCNMB3P1 CCT8L2 |
Regulatory Element Products
Genomic Location for CCT8L2 Gene
- Chromosome:
- 22
- Start:
- 16,590,751 bp from pter
- End:
- 16,592,810 bp from pter
- Size:
- 2,060 bases
- Orientation:
- Minus strand
Genomic View for CCT8L2 Gene
- Cytogenetic band:
-
- 22q11.1 by Ensembl
- 22q11.1 by Entrez Gene
- 22q11.1 by HGNC
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for CCT8L2 Gene
Proteins for CCT8L2 Gene
-
Protein details for CCT8L2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96SF2-TCPQM_HUMAN
- Recommended name:
- T-complex protein 1 subunit theta-like 2
- Protein Accession:
- Q96SF2
- A4QPH3
- Q9UJS3
Protein attributes for CCT8L2 Gene
- Size:
- 557 amino acids
- Molecular mass:
- 59388 Da
- Quaternary structure:
- No Data Available
- Miscellaneous:
-
- Expression of CCT8L2 is confirmed by many ESTs mostly identified from the testis.
- Presence of two highly similar CCT8L genes (CCT8L1P and CCT8L2) in the genomes of human and chimp and of a single copy in other mammal genomes, including rhesus monkey, suggests that the duplication of this gene occurred in the ape lineage (Hominoidea) after its divergence from the old-world monkeys (Cercopithecidae).
- SequenceCaution:
-
- Sequence=AAI39843.2; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Sequence of unknown origin in the C-terminal part.; Evidence={ECO:0000305};
Protein Expression for CCT8L2 Gene
Post-translational modifications for CCT8L2 Gene
Other Protein References for CCT8L2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
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No data available for DME Specific Peptides for CCT8L2 Gene
Domains & Families for CCT8L2 Gene
Protein Domains for CCT8L2 Gene
- InterPro:
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Suggested Antigen Peptide Sequences for CCT8L2 Gene
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Graphical View of Domain Structure for InterPro Entry
Q96SF2- Family:
-
- Belongs to the TCP-1 chaperonin family.
No data available for Gene Families for CCT8L2 Gene
Function for CCT8L2 Gene
Molecular function for CCT8L2 Gene
- UniProtKB/Swiss-Prot Function:
- Possible molecular chaperone; assists the folding of proteins upon ATP hydrolysis.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005253 | anion channel activity | TAS | 10585773 |
| GO:0005524 | ATP binding | IEA | -- |
| GO:0015269 | calcium-activated potassium channel activity | TAS | 10585773 |
| GO:0044183 | protein binding involved in protein folding | IBA | -- |
| GO:0051082 | unfolded protein binding | IBA | -- |
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- Yeast expression
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No data available for Enzyme Numbers (IUBMB) , Phenotypes , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for CCT8L2 Gene
Localization for CCT8L2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for CCT8L2 Gene
- Cytoplasm.
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005832 | chaperonin-containing T-complex | IBA | -- |
Pathways & Interactions for CCT8L2 Gene
Interacting Proteins for CCT8L2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006458 | de novo protein folding | IBA | -- |
| GO:0006810 | transport | TAS | 10585773 |
| GO:0061077 | chaperone-mediated protein folding | IBA | -- |
| GO:0071805 | potassium ion transmembrane transport | IEA | -- |
| GO:0098656 | anion transmembrane transport | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for CCT8L2 Gene
Transcripts for CCT8L2 Gene
mRNA/cDNA for CCT8L2 Gene
- (1) REFSEQ mRNAs :
- (7) Additional mRNA sequences :
- (17) Selected AceView cDNA sequences:
- (1) Ensembl transcripts including schematic representations, and UCSC links where relevant :
Unigene Clusters for CCT8L2 Gene
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-
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- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
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Expression for CCT8L2 Gene
mRNA differential expression in normal tissues according to GTEx for CCT8L2 Gene
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CCT8L2 Gene
NURSA nuclear receptor signaling pathways regulating expression of CCT8L2 Gene:
CCT8L2SOURCE GeneReport for Unigene cluster for CCT8L2 Gene:
Hs.128342Evidence on tissue expression from TISSUES for CCT8L2 Gene
- Nervous system(4.1)
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No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CCT8L2 Gene
Orthologs for CCT8L2 Gene
This gene was present in the common ancestor of animals and fungi.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | CCT8L2 34 35 |
|
||
| dog (Canis familiaris) |
Mammalia | CCT8L2 34 35 |
|
||
| cow (Bos Taurus) |
Mammalia | CCT8L2 34 35 |
|
||
| mouse (Mus musculus) |
Mammalia | Cct8l1 34 16 35 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Cct8l1 34 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | CCT8L2 35 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | CCT8L2 35 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG8258 35 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | cct-8 35 |
|
OneToMany | |
| baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | CCT8 35 |
|
OneToMany |
- Species where no ortholog for CCT8L2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- tropical clawed frog (Silurana tropicalis)
- wheat (Triticum aestivum)
- zebrafish (Danio rerio)
Paralogs for CCT8L2 Gene
Variants for CCT8L2 Gene
| SNP ID | Clin | Chr 22 pos | Sequence Context | AA Info | Type |
|---|---|---|---|---|---|
| rs1000946370 | -- | 16,593,021(+) | ATCAA(A/G)TGAAA | upstream-variant-2KB | |
| rs1002942513 | -- | 16,590,686(+) | ACTCC(A/G)TCTCT | downstream-variant-500B | |
| rs1003147181 | -- | 16,590,534(+) | AAAAA(C/T)ACAAA | downstream-variant-500B | |
| rs1003382916 | -- | 16,594,437(+) | TACAT(A/G)TATGC | upstream-variant-2KB | |
| rs1005009023 | -- | 16,593,110(+) | GTCCT(C/G)CTGCT | upstream-variant-2KB |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| dgv1276e212 | CNV | gain | 25503493 |
| dgv18e196 | CNV | duplication | 17116639 |
| dgv4458n100 | CNV | gain | 25217958 |
| dgv4459n100 | CNV | gain | 25217958 |
| dgv4460n100 | CNV | gain | 25217958 |
| dgv4461n100 | CNV | loss | 25217958 |
| dgv4462n100 | CNV | gain | 25217958 |
| dgv539n27 | CNV | gain | 19166990 |
| dgv540n27 | CNV | gain | 19166990 |
| dgv723n67 | CNV | gain | 20364138 |
| dgv7943n54 | CNV | gain | 21841781 |
| dgv7946n54 | CNV | gain | 21841781 |
| dgv818e214 | CNV | gain | 21293372 |
| dgv819e214 | CNV | gain | 21293372 |
| esv2763696 | CNV | gain | 21179565 |
| esv3575399 | CNV | gain | 25503493 |
| esv3575406 | CNV | gain | 25503493 |
| esv3575407 | CNV | gain | 25503493 |
| esv3584480 | CNV | gain | 24956385 |
| esv3584481 | CNV | gain | 24956385 |
| esv3893423 | CNV | gain | 25118596 |
| nsv1056300 | CNV | loss | 25217958 |
| nsv471178 | CNV | gain | 18288195 |
| nsv517059 | CNV | gain+loss | 19592680 |
| nsv527637 | CNV | gain | 19592680 |
| nsv588062 | CNV | gain | 21841781 |
| nsv588071 | CNV | gain | 21841781 |
| nsv962744 | CNV | duplication | 23825009 |
Relevant External Links for CCT8L2 Gene
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CCT8L2 Gene
Disorders for CCT8L2 Gene
Relevant External Links for CCT8L2
- Atlas of Genetics and Cytogenetics in Oncology and Haematology:
- CCT8L2
No disorders were found for CCT8L2 Gene.
No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CCT8L2 Gene
Publications for CCT8L2 Gene
- Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes. (PMID: 20193073) Mukherjee K. … Brocchieri L. (BMC Evol. Biol. 2010) 3 4 64
- A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins J.E. … Dunham I. (Genome Biol. 2004) 3 4 64
- 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. (PMID: 10585773) Riazi M.A. … McDermid H.E. (Genomics 1999) 3 4 64
- A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. (PMID: 23936387) A9stensson M. … Torinsson-Naluai A.8. (PLoS ONE 2013) 3 64
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 4 64
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- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
Sources for CCT8L2 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) RNAdb
- (29) ASD
- (30) ECgene
- (31) GeneAnnot
- (32) CGAP SAGE
- (33) SOURCE
- (34) HomoloGene
- (35) PanEnsembl
- (36) euGenes
- (37) SGD
- (38) FlyBase
- (39) WormBase
- (40) Pseudogene
- (41) DGV
- (42) dbSNP
- (43) GenAtlas
- (44) GeneTests
- (45) HGMD
- (46) GAD
- (47) LSDB
- (48) BGMUT
- (49) HuGE
- (50) eBioscience
- (51) Atlas
- (52) Cell Signaling Technology
- (53) GenBank
- (54) H-invDB
- (55) HORDE
- (56) HUGE
- (57) IMGT
- (58) Leiden
- (59) MILLIPORE
- (60) miRBase
- (61) DME
- (62) NCBI
- (63) OriGene
- (64) PubMed
- (65) R&D Systems
- (66) TGDB
- (67) Tocris
- (68) Abcam
- (69) Novus
- (70) ProSpec
- (71) Sino Biological
- (72) GenScript
- (73) Qiagen
- (74) Cloud-Clone Corp.
- (75) Enzo Life Sciences
- (76) OCA
- (77) Proteopedia
- (78) MOPED
- (79) SPIRE
- (80) neXtProt
- (81) Reactome
- (82) GeneGo (Thomson Reuters)
- (83) fRNAdb
- (84) DISEASES
- (85) SIMAP
- (86) GenomeRNAi
- (87) LifeMap
- (88) miRTarBase
- (89) MalaCards
- (90) Invitrogen
- (91) BitterDB
- (92) Vector BioLabs
- (93) ESI-BIO
- (94) RefSeq
- (95) BioSystems
- (96) MaxQB
- (97) IUPHAR
- (98) BioGPS
- (99) Illumina
- (100) COMPARTMENTS
- (101) HOMER
- (102) PaxDb
- (103) ApexBio
- (104) Addgene
- (105) antibodies-online
- (106) CYP
- (107) NONCODE
- (108) SwitchGear Genomics
- (109) TreeFam
- (110) PathCards
- (111) GeneReviews
- (112) GeneTex
- (113) Taconic Biosciences
- (114) GTEx
- (115) ProteomicsDB
- (116) SCBT
- (117) DGIdb
- (118) ClinicalTrials
- (119) FDA Approved Drugs
- (120) RVIS
- (121) SIGNOR
- (122) diseasecard
- (123) NIH Rare Diseases
- (124) Orphanet
- (125) UMLS
- (126) GTR
- (127) Disease Ontology
- (128) Genetics Home Reference
- (129) MeSH
- (130) MedlinePlus
- (131) CDC
- (132) NINDS
- (133) NCBI Bookshelf
- (134) ClinVar
- (135) Gene Damage Index
- (136) ViGene Biosciences
- (137) HPO
- (138) UDN
- (139) VISTA
- (140) FANTOM5
- (141) ENCODE
- (142) ProSci
- (143) Horizon
- (144) NURSA
- (145) IID
- (146) Cyagen
- (147) VectorBuilder
- (148) SNPedia
- (149) BRCA Exchange
- (150) St John's Lab
- (151) CIViC
- (152) ProteoGenix
- (153) dbSUPER
- (154) TISSUES
- (155) Gene ORGANizer




