Gene
CCDC8
coiled-coil domain containing 8 subunit of 3M complex
- HGNC 25367↗(opens in a new tab)
- Ensembl gene ENSG00000169515↗(opens in a new tab)
- NCBI Gene 83987↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.32
- Coordinates
- Chromosome 19: 46,410,329–46,413,564 (GRCh38)
- Exons
- 1 exon across 3.2 kb
- Protein
- 538 amino acids
- Also known as
- DKFZp564K0322, 3M3, PPP1R20, p90
- MANE Select transcript
- ENST00000307522.5NM_032040.5
- 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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No Genome Test report reads CCDC8 yet. The test sequences your whole genome, so your data includes it all the same.
How CCDC8 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 3.2 kb of the gene's 3.2 kb; 1,617 of those bases code for the protein.
How a genome test reads CCDC8
13
positions in CCDC8 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 3.2 kb of CCDC8, introns included, not only the 3.2 kb of exons.
Traits linked to CCDC8
The Human Phenotype Ontology lists these as features of the rare conditions CCDC8 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Prominent heel bone
- Abnormality of the wide portion of a long bone
- Rocker bottom foot
- Winged shoulder blade
- Abnormality of the elbow
- Smaller or shorter than typical limbs
- Underdeveloped inner large forearm bone
- Curvature of little finger
Show 1 more trait
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.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CCDC8 gene: coiled-coil domain containing 8 subunit of 3M complex. Retrieved 16 October 2026, from https://dantelabs.com/genes/ccdc8
Dante Labs. CCDC8 gene: coiled-coil domain containing 8 subunit of 3M complex [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/ccdc8
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