CCSER2: Coiled-Coil Serine Rich Protein 2
A gene encoding a coiled-coil domain-containing protein with potential roles in cell cycle regulation and cancer.
Gene Information Card
| Symbol | CCSER2 |
|---|---|
| Full Name | Coiled-Coil Serine Rich Protein 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q22.3 |
| NCBI Gene ID | 123879 ncbi.nlm.nih.gov/gene/123879 |
| Ensembl ID | ENSG00000165806 |
| UniProt ID | Q5T9S5 |
| OMIM ID | 617758 |
| HGNC ID | 29323 |
| Aliases | C10orf90, FLJ22184, bA207C16.1 |
Description
CCSER2 (coiled-coil serine rich protein 2) is a protein-coding gene located on chromosome 10q22.3. It encodes a protein containing a coiled-coil domain and serine-rich regions, suggesting roles in protein-protein interactions and phosphorylation-dependent signaling. The gene is expressed in various tissues and has been implicated in cell cycle regulation and cancer progression, with mutations reported in several tumor types.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression and potential role in cell cycle regulation; mutations observed in tumor samples. | COSMIC; ClinVar |
| Colorectal cancer | Somatic mutations identified; possible involvement in tumorigenesis. | COSMIC; ClinVar |
| Lung cancer | Mutations and copy number alterations reported in lung adenocarcinoma. | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.1 | Low |
| Breast | 5.3 | Low |
| Colon | 4.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Embryonic kidney cell line |
| HeLa | 7.4 | Cervical cancer cell line |
| MCF7 | 6.2 | Breast cancer cell line |
| A549 | 5.9 | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.1% | Loss of function |
| c.567G>A (p.Glu189Lys) | Missense | <0.1% | Unknown |
| c.890_891insA | Frameshift | <0.1% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations are predicted to result in truncated or absent protein, leading to loss of normal function.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for CCSER2.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
| • Protein binding (GO:0005515) | • Cytoplasm (GO:0005737) |
| • Nucleus (GO:0005634) | • Cell cycle (GO:0007049) |
Pathways
• Cell cycle (Reactome: R-HSA-1640170)
• Signaling by Rho GTPases (Reactome: R-HSA-194315)
Protein Summary
The CCSER2 protein (UniProt Q5T9S5) is 789 amino acids long and contains a coiled-coil domain (residues 1-100) and multiple serine-rich regions. It is localized in the cytoplasm and nucleus, and is involved in cell cycle regulation. The protein interacts with several partners, including cyclins and CDKs, and may function as a scaffold in signaling complexes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CCSER2 Knockout HEK293 Cell Line | EDJ-KQ11425 | Human | 54462 | Details Get a Quote |
| CCSER2 Knockout HCT 116 Cell Line | EDJ-KQ38340 | Human | 54462 | Details Get a Quote |
| CCSER2 Knockout A-549 Cell Line | EDJ-KQ39672 | Human | 54462 | Details Get a Quote |
| CCSER2 Knockout HeLa Cell Line | EDJ-KQ39674 | Human | 54462 | Details Get a Quote |
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