CCDC90B
Coiled-Coil Domain Containing 90B
Gene Information Card
| Symbol | CCDC90B |
|---|---|
| Full Name | Coiled-Coil Domain Containing 90B |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.1 |
| NCBI Gene ID | 60492 ncbi.nlm.nih.gov/gene/60492 |
| Ensembl ID | ENSG00000149257 |
| UniProt ID | Q9Y6M1 |
| OMIM ID | 617827 |
| HGNC ID | 28160 |
| Aliases | FLJ20254, MGC138499 |
Description
CCDC90B is a protein-coding gene that encodes a coiled-coil domain-containing protein. The specific function of CCDC90B is not fully characterized, but it is predicted to be involved in cellular processes such as protein-protein interactions and may play a role in mitochondrial function or intracellular signaling. The gene is located on chromosome 11q13.1 and is expressed in various tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Unknown | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.5 | Low |
| Heart | 6.1 | Low |
| Liver | 4.3 | Low |
| Kidney | 5.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 12.0 | Moderate expression |
| HeLa | 9.8 | Low expression |
| K562 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
Pathways
• No known pathways
Protein Summary
The CCDC90B protein contains a coiled-coil domain, which is often involved in mediating protein-protein interactions. Its exact biological role remains unclear, but it may contribute to cellular architecture or signaling complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCDC90B Knockout HEK293 Cell Line | EDJ-KQ12770 | Human | 60492 | Details Get a Quote |
| CCDC90B Knockout A-549 Cell Line | EDJ-KQ41900 | Human | 60492 | Details Get a Quote |
| CCDC90B Knockout HCT 116 Cell Line | EDJ-KQ41901 | Human | 60492 | Details Get a Quote |
| CCDC90B Knockout HeLa Cell Line | EDJ-KQ41902 | Human | 60492 | Details Get a Quote |
