CAPN12: Calpain 12 - Structure, Function, and Clinical Relevance
A comprehensive overview of the CAPN12 gene, its protein product, expression patterns, and associated diseases.
Gene Information Card
| Symbol | CAPN12 |
|---|---|
| Full Name | calpain 12 |
| Gene Type | protein-coding |
| Chromosomal Location | 19q13.2 |
| NCBI Gene ID | 147968 ncbi.nlm.nih.gov/gene/147968 |
| Ensembl ID | ENSG00000182472 |
| UniProt ID | Q6ZSI9 |
| OMIM ID | 608220 |
| HGNC ID | 20299 |
| Aliases | CAPN12, calpain-12 |
Description
CAPN12 (calpain 12) is a protein-coding gene that belongs to the calpain family of calcium-dependent cysteine proteases. Calpains are involved in various cellular processes including cell motility, cell cycle progression, and signal transduction. CAPN12 is less characterized than other calpain family members but is thought to play a role in proteolytic regulation. The gene is located on chromosome 19q13.2 and encodes a protein of approximately 720 amino acids.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association confirmed | Not established | No direct evidence from ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 3.2 | Low |
| Brain | 1.8 | Low |
| Lung | 1.5 | Low |
| Kidney | 1.2 | Low |
| Liver | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 2.1 | Low expression |
| HeLa | 1.5 | Low expression |
| K562 | 0.8 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No documented loss-of-function mutations in CAPN12.
Gain of Function (GOF)
No documented gain-of-function mutations in CAPN12.
Dominant Negative (DN)
No documented dominant-negative mutations in CAPN12.
View complete mutation data：
Gene Ontology (GO)
| • calcium-dependent cysteine-type endopeptidase activity (GO:0004198) | • proteolysis (GO:0006508) |
| • cytoplasm (GO:0005737) | • intracellular (GO:0005622) |
Pathways
• No specific pathways curated for CAPN12 in Reactome or KEGG.
Protein Summary
Calpain 12 is a calcium-dependent cysteine protease. The protein contains a cysteine protease domain and a calpain-type domain. Its precise biological functions remain largely unknown, but it is predicted to participate in limited proteolysis of substrates involved in cellular signaling and cytoskeletal remodeling. Expression is low across most tissues, with highest levels in testis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAPN12 Knockout HEK293 Cell Line | EDJ-KQ10698 | Human | 147968 | Details Get a Quote |
| CAPN12 Knockout A-549 Cell Line | EDJ-KQ38248 | Human | 147968 | Details Get a Quote |
| CAPN12 Knockout HCT 116 Cell Line | EDJ-KQ38249 | Human | 147968 | Details Get a Quote |
| CAPN12 Knockout HeLa Cell Line | EDJ-KQ58594 | Human | 147968 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
