Gene
CCT2
chaperonin containing TCP1 subunit 2
- HGNC 1615↗(opens in a new tab)
- Ensembl gene ENSG00000166226↗(opens in a new tab)
- NCBI Gene 10576↗(opens in a new tab)
Summary
- Cytogenetic location
- 12q15
- Coordinates
- Chromosome 12: 69,585,459–69,601,570 (GRCh38)
- Exons
- 16 exons across 16.1 kb
- Protein
- 535 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- Cctb
- MANE Select transcript
- ENST00000299300.11NM_006431.3
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Leber Congenital Amaurosis & RPE65-Related Retinopathy
- Leber Congenital AmaurosisAutosomal recessive
A group of inherited retinal dystrophies, caused by changes in genes such as CEP290, GUCY2D, CRB1, RPE65 and AIPL1, that cause severe vision loss, nystagmus and poor pupil responses in infancy.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Confirming the gene can determine eligibility for gene-specific treatments and clinical trials, and informs family counselling.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How CCT2 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.9 kb of the gene's 16.1 kb; 1,608 of those bases code for the protein.
Genes linked to the same conditions
- AIPL1AIP like 1 HSP90 co-chaperoneShares 1 condition
- CEP290centrosomal protein 290Shares 1 condition
- CRB1crumbs cell polarity complex component 1Shares 1 condition
- CRXcone-rod homeoboxShares 1 condition
- GUCY2Dguanylate cyclase 2D, retinalShares 1 condition
- IMPDH1inosine monophosphate dehydrogenase 1Shares 1 condition
- KCNJ13potassium inwardly rectifying channel subfamily J member 13Shares 1 condition
- LCA5lebercilin LCA5Shares 1 condition
- LRATlecithin retinol acyltransferaseShares 1 condition
- NMNAT1nicotinamide nucleotide adenylyltransferase 1Shares 1 condition
- PRPH2peripherin 2Shares 1 condition
- RD3RD3 regulator of GUCY2DShares 1 condition
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CCT2 gene: chaperonin containing TCP1 subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cct2
Dante Labs. CCT2 gene: chaperonin containing TCP1 subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cct2
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