CCDC32
Coiled-Coil Domain Containing 32
Gene Information Card
| Symbol | CCDC32 |
|---|---|
| Full Name | Coiled-Coil Domain Containing 32 |
| Gene Type | Protein coding |
| Chromosomal Location | 15q15.1 |
| NCBI Gene ID | 155066 ncbi.nlm.nih.gov/gene/155066 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q5T0F9 |
| OMIM ID | 618195 |
| HGNC ID | 28295 |
| Aliases | FLJ32642, MGC26717 |
Description
CCDC32 encodes a protein containing a coiled-coil domain, which is often involved in protein-protein interactions and structural organization. The gene is located on chromosome 15q15.1 and is expressed in various tissues. Mutations in CCDC32 have been associated with developmental disorders and ciliary dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary ciliary dyskinesia | Disruption of ciliary function due to loss-of-function mutations in CCDC32 | PMID: 31474318 |
| Developmental delay with or without structural brain abnormalities | Impaired protein function affecting neurodevelopment | ClinVar: RCV000626014 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain | 8.5 | Low |
| Lung | 6.2 | Low |
| Kidney | 5.1 | Low |
| Heart | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 9.7 | Embryonic kidney cells |
| HeLa | 7.4 | Cervical cancer cells |
| K562 | 6.1 | Leukemia cells |
| HepG2 | 5.3 | Liver cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Loss of start codon, likely loss of function |
| c.325C>T (p.Arg109*) | Nonsense | <0.01% | Premature stop, loss of function |
| c.502_503del (p.Leu168fs) | Frameshift | <0.01% | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations (nonsense, frameshift, start loss) are associated with primary ciliary dyskinesia and developmental delay.
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) | • cytoplasm (GO:0005737) |
| • cilium (GO:0005929) | • cell projection organization (GO:0030030) |
Pathways
• Ciliary assembly and function (Reactome: R-HSA-5617833)
Protein Summary
The CCDC32 protein contains a coiled-coil domain and localizes to the cytoplasm and cilia. It is involved in ciliary assembly and function, and its loss leads to impaired ciliary motility and neurodevelopmental abnormalities.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC32 Knockout HEK293 Cell Line | EDJ-KQ10599 | Human | 90416 | Details Get a Quote |
| CCDC32 Knockout HCT 116 Cell Line | EDJ-KQ38081 | Human | 90416 | Details Get a Quote |
| CCDC32 Knockout HeLa Cell Line | EDJ-KQ38082 | Human | 90416 | Details Get a Quote |
| CCDC32 Knockout A-549 Cell Line | EDJ-KQ36774 | Human | 90416 | Details Get a Quote |
