CCT6B

protein-coding

chaperonin containing TCP1 subunit 6B, the group of Chaperonins

Gene summary

This gene encodes a molecular chaperone that is a member of the chaperonin-containing TCP1 complex (CCT), also known as the TCP1 ring complex (TRiC). This complex consists of two identical stacked rings, each containing eight different proteins. Unfolded polypeptides enter the central cavity of the complex and are folded in an ATP-dependent manner. The complex folds various proteins, including actin and tubulin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

MANE transcript

NM_006584.4

Inheritance

—

ClinVar variants

U:82B:4

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr17:34,927,859-34,981,078

External References & Databases

Ensembl (ENSG00000132141)

Transcript & Mutation Effects

hg38 • Region Span ~53.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CCT6B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 78

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_006584.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			78 clinvar	2 clinvar		80
nonsense			1 clinvar			1
start loss						0
frameshift			1 clinvar			1
splice donor/acceptor (+/-2bp)			2 clinvar		1 clinvar	3
Total	0	0	82	3	1	86

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 16 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_006584.4	RefSeq	NP_006575.2	14	MANE Select
ENST00000314144.10	Ensembl	ENSP00000327191.5	14	MANE Select
NM_001193529.3	RefSeq	NP_001180458.1	13	Standard
NM_001193530.2	RefSeq	NP_001180459.1	13	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding
Metabolism of proteins
Chaperonin-mediated protein folding
Formation of tubulin folding intermediates by CCT/TriC
Association of TriC/CCT with target proteins during biosynthesis

Biological Process

protein folding
spermatogenesis
protein transport
chaperone-mediated protein complex assembly
toxin transport

Molecular Function

ATP binding
protein transporter activity
unfolded protein binding

Cellular Component

cytosol
chaperonin-containing T-complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000314144
Coding exons: 14
Length: 53220
Individuals with no LoFs: 125529
Homozygous LoFs: 3
Heterozygous LoFs: 214
Defined: 125746
p: 0.000863

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.0435	275	273	1.01	0.0000130	3436
Missense (PolyPhen)		67	58.298	1.1493		824
Synonymous	-0.331	98	93.9	1.04	0.00000455	1038
Loss of Function	1.08	19	24.8	0.766	0.00000114	357

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00093	0.00092	rare
Latino/Admixed American	0.00063	0.00058	rare
Ashkenazi Jewish	0.00022	0.00020	rare
East Asian	0.00023	0.00022	rare
Finnish	0.000096	0.000092	rare
European (Non-Finnish)	0.00043	0.00042	rare
South Asian	0.0042	0.0041	notable
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Component of the chaperonin-containing T-complex (TRiC), a molecular chaperone complex that assists the folding of proteins upon ATP hydrolysis. {ECO:0000305|PubMed:8812458}.;

Recessive Scores

pRec: 0.119

Intolerance Scores

LoFtool: 0.980
RVIS EVS: 0.2
RVIS percentile EVS: 67.3

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.710

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High