CCDC73: Coiled-Coil Domain Containing 73
A gene encoding a protein of unknown function, implicated in ciliary biology and potential roles in cancer.
Gene Information Card
| Symbol | CCDC73 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 73 |
| Gene Type | Protein coding |
| Chromosomal Location | 11p13 |
| NCBI Gene ID | 196051 ncbi.nlm.nih.gov/gene/196051 |
| Ensembl ID | ENSG00000148719 |
| UniProt ID | Q6ZUT6 |
| OMIM ID | 615978 |
| HGNC ID | 26263 |
| Aliases | FLJ32709, MGC138290 |
Description
CCDC73 encodes a protein containing coiled-coil domains, which are often involved in protein-protein interactions and structural organization. The precise function of CCDC73 is not fully characterized, but it is predicted to be associated with ciliary structures based on sequence homology and expression patterns. Alterations in CCDC73 have been reported in certain cancers, suggesting a potential role in tumorigenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Altered expression and mutations may contribute to oncogenesis via disrupted ciliary signaling or other unknown mechanisms. | COSMIC database reports somatic mutations in various cancer types. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Kidney | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.1 | Embryonic kidney cells |
| HeLa | 7.8 | Cervical cancer cells |
| A549 | 5.3 | Lung cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Premature stop codon; likely loss-of-function |
| c.567G>A (p.Trp189*) | Nonsense | <0.1% | Premature stop codon; likely loss-of-function |
| c.890A>G (p.Glu297Gly) | Missense | <0.1% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
Nonsense mutations (e.g., p.Arg412*, p.Trp189*) are predicted to cause loss of function by truncating the protein.
Gain of Function (GOF)
No evidence for gain-of-function mutations in CCDC73.
Dominant Negative (DN)
No evidence for dominant-negative mutations in CCDC73.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) |
Protein Summary
The CCDC73 protein (UniProt Q6ZUT6) is 1,034 amino acids long and contains coiled-coil domains. It is predicted to localize to the cytoplasm and cilia. Its exact biological role remains unclear, but it may be involved in ciliary function and cellular signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC73 Knockout HEK293 Cell Line | EDJ-KQ12763 | Human | 493860 | Details Get a Quote |
| CCDC73 Knockout HeLa Cell Line | EDJ-KQ60475 | Human | 493860 | Details Get a Quote |
| CCDC73 Knockout A-549 Cell Line | EDJ-KQ68945 | Human | 493860 | Details Get a Quote |
| CCDC73 Knockout HCT 116 Cell Line | EDJ-KQ77304 | Human | 493860 | Details Get a Quote |
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