CCDC8: Coiled-Coil Domain Containing 8
A key gene in 3M syndrome and growth regulation
Gene Information Card
| Symbol | CCDC8 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 8 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.32 |
| NCBI Gene ID | 83987 ncbi.nlm.nih.gov/gene/83987 |
| Ensembl ID | ENSG00000169504 |
| UniProt ID | Q9H0W5 |
| OMIM ID | 614145 |
| HGNC ID | 28367 |
| Aliases | HSPC043, FLJ12673 |
Description
CCDC8 (Coiled-Coil Domain Containing 8) is a protein-coding gene located on chromosome 19q13.32. It encodes a protein of unknown function that contains a coiled-coil domain. Mutations in CCDC8 are associated with 3M syndrome, a rare autosomal recessive disorder characterized by severe prenatal and postnatal growth retardation, distinctive facial features, and skeletal abnormalities. The gene is expressed in various tissues and is thought to play a role in cell growth and development.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| 3M syndrome | Loss-of-function mutations in CCDC8 disrupt normal growth signaling pathways, leading to growth retardation. | OMIM #614205; multiple reports in ClinVar and literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 8.2 | Medium |
| Thyroid | 6.5 | Medium |
| Adrenal gland | 5.1 | Low |
| Brain | 4.3 | Low |
| Heart | 3.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 7.1 | Embryonic kidney cells |
| HeLa | 5.6 | Cervical cancer cells |
| K562 | 4.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.84_85insA | Insertion | Rare | Frameshift, loss of function |
| c.316C>T | Missense | Rare | p.Arg106Trp, likely pathogenic |
| c.434G>A | Missense | Rare | p.Arg145Gln, uncertain significance |
Mutation functional classification
Loss of Function (LOF)
Most CCDC8 mutations in 3M syndrome are loss-of-function, leading to reduced or absent protein activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • nucleus (GO:0005634) |
| • cytoplasm (GO:0005737) |
Protein Summary
The CCDC8 protein (UniProt Q9H0W5) is 537 amino acids long and contains a coiled-coil domain. Its exact function is unknown, but it is predicted to be involved in protein-protein interactions and may play a role in growth regulation. The protein is localized to the nucleus and cytoplasm.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC88A Knockout HEK293 Cell Line | EDJ-KQ2314 | Human | 55704 | Details Get a Quote |
| CCDC8 Knockout HEK293 Cell Line | EDJ-KQ2702 | Human | 83987 | Details Get a Quote |
| CCDC85B Knockout HEK293 Cell Line | EDJ-KQ3643 | Human | 11007 | Details Get a Quote |
| CCDC85A Knockout HEK293 Cell Line | EDJ-KQ7464 | Human | 114800 | Details Get a Quote |
| CCDC83 Knockout HEK293 Cell Line | EDJ-KQ8514 | Human | 220047 | Details Get a Quote |
| CCDC89 Knockout HEK293 Cell Line | EDJ-KQ8613 | Human | 220388 | Details Get a Quote |
| CCDC85C Knockout HEK293 Cell Line | EDJ-KQ8910 | Human | 317762 | Details Get a Quote |
| CCDC80 Knockout HEK293 Cell Line | EDJ-KQ12022 | Human | 151887 | Details Get a Quote |
| CCDC81 Knockout HEK293 Cell Line | EDJ-KQ12765 | Human | 60494 | Details Get a Quote |
| CCDC82 Knockout HEK293 Cell Line | EDC90431 | Human | 79780 | Details Get a Quote |
| CCDC87 Knockout HEK293 Cell Line | EDJ-KQ12767 | Human | 55231 | Details Get a Quote |
| CCDC88B Knockout HEK293 Cell Line | EDJ-KQ12768 | Human | 283234 | Details Get a Quote |
| CCDC88C Knockout HEK293 Cell Line | EDJ-KQ12769 | Human | 440193 | Details Get a Quote |
| CCDC88A Knockout A-549 Cell Line | EDJ-KQ22697 | Human | 55704 | Details Get a Quote |
| CCDC88A Knockout HCT 116 Cell Line | EDJ-KQ22698 | Human | 55704 | Details Get a Quote |
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