CNN3 Gene - Calponin 3
Comprehensive gene information for CNN3, including expression, mutations, and associated diseases.
Gene Information Card
| Symbol | CNN3 |
|---|---|
| Full Name | Calponin 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p22.1 |
| NCBI Gene ID | 1266 ncbi.nlm.nih.gov/gene/1266 |
| Ensembl ID | ENSG00000117519 |
| UniProt ID | Q15417 |
| OMIM ID | 602373 |
| HGNC ID | 2159 |
| Aliases | calponin, acidic; calponin H3; SMCC; h1; calponin-3 |
Description
CNN3 encodes calponin 3, a member of the calponin family of actin-binding proteins. Calponin 3 is involved in the regulation of smooth muscle contraction, actin cytoskeleton organization, and cell migration. It is expressed in various tissues, including smooth muscle, brain, and placenta.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported | N/A | N/A |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | 30.2 | High |
| Brain | 15.8 | Medium |
| Placenta | 12.4 | Medium |
| Heart | 8.1 | Low |
| Lung | 6.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 | 20.5 | Lung carcinoma |
| HeLa | 18.3 | Cervical carcinoma |
| HepG2 | 14.7 | Hepatocellular carcinoma |
| MCF7 | 12.1 | Breast carcinoma |
| K562 | 9.8 | Leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | <0.01% | p.Pro41Leu, unknown significance |
| c.456G>A | Missense | <0.01% | p.Arg152His, unknown significance |
| c.789del | Frameshift | <0.01% | p.Glu264Lysfs*12, likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789del) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • muscle contraction (GO:0006936) | • actin cytoskeleton organization (GO:0030036) |
| • actin filament binding (GO:0051015) |
Pathways
• Smooth muscle contraction (Reactome: R-HSA-397014)
• Actin cytoskeleton regulation (KEGG: hsa04810)
Protein Summary
Calponin 3 is a 329-amino acid protein with a molecular weight of approximately 36 kDa. It contains three calponin homology (CH) domains and a C-terminal tail. It binds to actin, tropomyosin, and calmodulin, modulating smooth muscle contraction and cytoskeletal dynamics.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNN3 Knockout HEK293 Cell Line | EDJ-KQ4303 | Human | 1266 | Details Get a Quote |
| CNN3 Knockout A-549 Cell Line | EDJ-KQ25497 | Human | 1266 | Details Get a Quote |
| CNN3 Knockout HCT 116 Cell Line | EDJ-KQ26792 | Human | 1266 | Details Get a Quote |
| CNN3 Knockout HeLa Cell Line | EDJ-KQ26793 | Human | 1266 | Details Get a Quote |
