CPNE9 Gene - Copine 9
A calcium-dependent membrane-binding protein with potential roles in neuronal signaling and cancer.
Gene Information Card
| Symbol | CPNE9 |
|---|---|
| Full Name | Copine 9 |
| Gene Type | Protein coding |
| Chromosomal Location | 3p25.1 |
| NCBI Gene ID | 144402 ncbi.nlm.nih.gov/gene/144402 |
| Ensembl ID | ENSG00000171603 |
| UniProt ID | Q8IYJ0 |
| OMIM ID | 614088 |
| HGNC ID | 23224 |
| Aliases | FLJ32658, copine IX |
Description
CPNE9 (Copine 9) is a protein-coding gene located on chromosome 3p25.1. It belongs to the copine family, characterized by two C2 domains and an A-domain. Copines are calcium-dependent phospholipid-binding proteins involved in membrane trafficking and signal transduction. CPNE9 is predominantly expressed in the brain and may play a role in neuronal development and synaptic function. Mutations and altered expression have been implicated in certain cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered expression; potential tumor suppressor or oncogene depending on context | COSMIC, literature |
| Neurological disorders | Potential involvement in synaptic function; further research needed | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | Not available | High expression (based on RNA-seq data from Human Protein Atlas) |
| Testis | Not available | Moderate expression |
| Other tissues | Not available | Low or no expression |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | Not available | Neuronal cell line; CPNE9 expression may be relevant to neurobiology |
| HeLa (cervical carcinoma) | Not available | Low expression |
| A549 (lung carcinoma) | Not available | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | Rare | Unknown; predicted benign |
| c.567C>T (p.Pro189Leu) | Missense | Rare | Unknown; predicted possibly damaging |
| c.890_891del (p.Glu297GlyfsTer23) | Frameshift | Rare | Loss of function; potential disease association |
Mutation functional classification
Loss of Function (LOF)
Frameshift or nonsense mutations leading to truncated protein may result in loss of function, potentially contributing to disease.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • phospholipid binding |
| • membrane trafficking | • signal transduction |
Pathways
• Calcium signaling pathway
• Membrane trafficking
Protein Summary
The CPNE9 protein is a member of the copine family, containing two C2 domains that mediate calcium-dependent phospholipid binding. It is involved in membrane dynamics and intracellular signaling. The protein is predominantly expressed in the brain, suggesting a role in neuronal function. Structural studies indicate it may form homodimers and interact with other proteins to regulate cellular processes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CPNE9 Knockout HEK293 Cell Line | EDJ-KQ2791 | Human | 151835 | Details Get a Quote |
| CPNE9 Knockout HeLa Cell Line | EDJ-KQ58695 | Human | 151835 | Details Get a Quote |
| CPNE9 Knockout A-549 Cell Line | EDJ-KQ67179 | Human | 151835 | Details Get a Quote |
| CPNE9 Knockout HCT 116 Cell Line | EDJ-KQ75581 | Human | 151835 | Details Get a Quote |
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