CNN2 Gene - Calponin 2
Comprehensive gene information for CNN2, encoding calponin 2, a regulator of actin cytoskeleton dynamics.
Gene Information Card
| Symbol | CNN2 |
|---|---|
| Full Name | Calponin 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 1265 ncbi.nlm.nih.gov/gene/1265 |
| Ensembl ID | ENSG00000164619 |
| UniProt ID | Q99439 |
| OMIM ID | 602373 |
| HGNC ID | 2157 |
| Aliases | calponin H2, smooth muscle calponin, SMCC |
Description
CNN2 encodes calponin 2, a member of the calponin family of actin-binding proteins. Calponin 2 regulates actin cytoskeleton dynamics by inhibiting actomyosin ATPase activity and stabilizing actin filaments. It is expressed in smooth muscle and non-muscle cells, playing roles in cell contraction, migration, and adhesion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression affects cell motility and invasion | COSMIC, literature |
| Cardiovascular disease | Potential role in vascular smooth muscle remodeling | Literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Smooth muscle | 30.2 | High |
| Heart | 15.8 | Medium |
| Lung | 12.4 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| A549 (lung) | 18.5 | Moderate expression |
| HeLa (cervical) | 22.3 | Moderate expression |
| HUVEC (endothelial) | 25.7 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T | Missense | 0.01% | Unknown |
| c.456G>A | Synonymous | 0.02% | No effect |
Mutation functional classification
Loss of Function (LOF)
Not well characterized; rare missense variants may reduce actin binding.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • protein binding (GO:0005515) |
| • cytoskeleton (GO:0005856) | • actin filament stabilization (GO:0030048) |
Pathways
• Actin cytoskeleton regulation
• Smooth muscle contraction
Protein Summary
Calponin 2 is a 33 kDa protein containing a calponin homology (CH) domain and an actin-binding domain. It binds F-actin and inhibits actomyosin ATPase activity, modulating cell contractility and cytoskeletal organization. Phosphorylation by protein kinase C or CaMKII reduces its actin-binding affinity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CNN2 Knockout HEK293 Cell Line | EDJ-KQ4304 | Human | 1265 | Details Get a Quote |
| CNN2 Knockout A-549 Cell Line | EDJ-KQ26794 | Human | 1265 | Details Get a Quote |
| CNN2 Knockout HCT 116 Cell Line | EDJ-KQ26795 | Human | 1265 | Details Get a Quote |
| CNN2 Knockout HeLa Cell Line | EDJ-KQ26796 | Human | 1265 | Details Get a Quote |
