CCDC9B Gene - Coiled-Coil Domain Containing 9B
A comprehensive overview of CCDC9B, including genomic context, expression, and disease associations.
Gene Information Card
| Symbol | CCDC9B |
|---|---|
| Full Name | Coiled-Coil Domain Containing 9B |
| Gene Type | Protein coding |
| Chromosomal Location | 15q21.1 |
| NCBI Gene ID | 100130502 ncbi.nlm.nih.gov/gene/100130502 |
| Ensembl ID | ENSG00000204176 |
| UniProt ID | Q6ZP29 |
| OMIM ID | Not available |
| HGNC ID | HGNC:33584 |
| Aliases | MGC16384, FLJ45831 |
Description
CCDC9B (Coiled-Coil Domain Containing 9B) is a protein-coding gene located on chromosome 15q21.1. The encoded protein contains coiled-coil domains, which are often involved in protein-protein interactions and structural functions. The biological function of CCDC9B is not fully characterized, but it is predicted to play a role in cellular organization and signaling. Expression data indicate low to moderate levels in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Thyroid | 2.1 | Low |
| Prostate | 1.8 | Low |
| Lung | 1.5 | Low |
| Breast | 1.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.5 | Low expression |
| HeLa | 1.9 | Low expression |
| K562 | 1.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Cys) | Missense | <0.01% (gnomAD) | Unknown functional impact |
| c.456G>A (p.Trp152*) | Nonsense | <0.001% (gnomAD) | Predicted loss-of-function |
Mutation functional classification
Loss of Function (LOF)
Nonsense variant p.Trp152* likely leads to nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence.
Dominant Negative (DN)
No evidence.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • identical protein binding (GO:0042802) |
Pathways
• Not assigned to any curated pathway
Protein Summary
The CCDC9B protein (UniProt Q6ZP29) is 452 amino acids long and contains coiled-coil domains. Its exact function is unknown, but it may participate in protein complex formation. Expression is low across tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC9B Knockout HEK293 Cell Line | EDJ-KQ12749 | Human | 388115 | Details Get a Quote |
| CCDC9B Knockout HCT 116 Cell Line | EDJ-KQ40592 | Human | 388115 | Details Get a Quote |
| CCDC9B Knockout A-549 Cell Line | EDJ-KQ41853 | Human | 388115 | Details Get a Quote |
| CCDC9B Knockout HeLa Cell Line | EDJ-KQ41855 | Human | 388115 | Details Get a Quote |
