CCDC88B
Coiled-Coil Domain Containing 88B
Gene Information Card
| Symbol | CCDC88B |
|---|---|
| Full Name | Coiled-Coil Domain Containing 88B |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 283234 ncbi.nlm.nih.gov/gene/283234 |
| Ensembl ID | ENSG00000167772 |
| UniProt ID | Q6P5W5 |
| OMIM ID | 611206 |
| HGNC ID | 26756 |
| Aliases | FLJ11273, DKFZp686A01247 |
Description
CCDC88B encodes a protein containing a coiled-coil domain, involved in cytoskeletal organization and cell migration. It is expressed in various tissues and may play a role in immune cell function and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Altered expression may affect cell migration and invasion | PMID: 23455423 |
| Breast cancer | Potential role in tumor progression via cytoskeletal remodeling | PMID: 25691885 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 8.2 | Low |
| Brain | 6.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 15.3 | Moderate expression |
| HeLa | 10.7 | Low expression |
| K562 | 7.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T | Missense | <0.01% | Unknown functional impact |
| c.567delA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations may lead to truncated protein and loss of function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • cytoskeleton | • protein binding |
| • cell migration |
Pathways
• Regulation of actin cytoskeleton
• Cell adhesion
Protein Summary
The CCDC88B protein is a coiled-coil domain-containing protein that localizes to the cytoplasm and is involved in cytoskeletal dynamics, potentially influencing cell shape, motility, and signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC88B Knockout HEK293 Cell Line | EDJ-KQ12768 | Human | 283234 | Details Get a Quote |
| CCDC88B Knockout HCT 116 Cell Line | EDJ-KQ40632 | Human | 283234 | Details Get a Quote |
| CCDC88B Knockout A-549 Cell Line | EDJ-KQ41894 | Human | 283234 | Details Get a Quote |
| CCDC88B Knockout HeLa Cell Line | EDJ-KQ41896 | Human | 283234 | Details Get a Quote |
