CCT8L2 chaperonin containing TCP1 subunit 8 like 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: CCT8L2provided by HGNC
Official Full Name: chaperonin containing TCP1 subunit 8 like 2provided by HGNC
Primary source: HGNC:HGNC:15553
See related: Ensembl:ENSG00000198445 AllianceGenome:HGNC:15553
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CESK1
Summary: Predicted to enable unfolded protein binding activity. Predicted to be involved in protein folding. Predicted to be part of chaperonin-containing T-complex. [provided by Alliance of Genome Resources, Apr 2022]
Orthologs: mouse all
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Genomic context

Location:: 22q11.1

Exon count:: 1

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	22	NC_000022.11 (16590751..16592810, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	22	NC_060946.1 (17267300..17269359, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	22	NC_000022.10 (17071641..17073700, complement)

Chromosome 22 - NC_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables ATP binding	IEA Inferred from Electronic Annotation more info
enables ATP-dependent protein folding chaperone	IEA Inferred from Electronic Annotation more info
enables calcium-activated potassium channel activity	TAS Traceable Author Statement more info
enables monoatomic anion channel activity	TAS Traceable Author Statement more info
enables unfolded protein binding	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in monoatomic anion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in potassium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein folding	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of chaperonin-containing T-complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: T-complex protein 1 subunit theta-like 2

Names: chaperonin containing TCP1, subunit 8 (theta)-like 2; putative T-complex protein 1 subunit theta-like 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_014406.5 → NP_055221.1 T-complex protein 1 subunit theta-like 2

See identical proteins and their annotated locations for NP_055221.1

Status: VALIDATED

Source sequence(s)

AP000547, BC022006, BC033797

Consensus CDS

CCDS13738.1

UniProtKB/Swiss-Prot

A4QPH3, A6NM43, Q96SF2, Q9UJS3

Related

ENSP00000353048.3, ENST00000359963.4

Conserved Domains (2) summary

pfam00118
Location:43 → 524

Cpn60_TCP1; TCP-1/cpn60 chaperonin family

cl02777
Location:32 → 524

chaperonin_like; chaperonin_like superfamily. Chaperonins are involved in productive folding of proteins. They share a common general morphology, a double toroid of 2 stacked rings, each composed of 7-9 subunits. There are 2 main chaperonin groups. The symmetry of type I ...