CALML6: Calmodulin-Like 6 Gene
A calcium-binding protein gene with potential roles in cellular signaling and cancer
Gene Information Card
| Symbol | CALML6 |
|---|---|
| Full Name | calmodulin-like 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.33 |
| NCBI Gene ID | 163688 ncbi.nlm.nih.gov/gene/163688 |
| Ensembl ID | ENSG00000169885 |
| UniProt ID | Q8N3R9 |
| OMIM ID | 611445 |
| HGNC ID | 18412 |
| Aliases | CAGLP, calmodulin-like 6, calmodulin-related protein |
Description
CALML6 (calmodulin-like 6) is a protein-coding gene located on chromosome 1p36.33. It encodes a member of the calmodulin family of calcium-binding proteins. The protein contains EF-hand domains that bind calcium ions, suggesting a role in calcium-mediated signal transduction. CALML6 is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may influence calcium signaling pathways affecting cell proliferation | COSMIC, NCBI Gene |
| Colorectal cancer | Potential role in tumorigenesis via dysregulation of calcium homeostasis | COSMIC |
| Lung cancer | Mutations and expression changes observed in lung adenocarcinoma | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 10.2 | Medium |
| Brain | 5.8 | Low |
| Heart | 4.1 | Low |
| Liver | 2.3 | Not detected |
| Kidney | 3.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Embryonic kidney cells |
| HeLa | 6.4 | Cervical cancer cells |
| A549 | 5.1 | Lung carcinoma cells |
| MCF7 | 7.3 | Breast cancer cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T | missense | 0.02% | p.Thr34Ile, unknown significance |
| c.205G>A | missense | 0.01% | p.Glu69Lys, unknown significance |
| c.312_313insA | frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.312_313insA) likely result in truncated protein and loss of calcium-binding function.
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)
| • calcium ion binding (GO:0005509) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • plasma membrane (GO:0005886) |
| • intracellular signal transduction (GO:0035556) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Calmodulin-dependent signaling
Protein Summary
Calmodulin-like 6 (CALML6) is a 148-amino acid protein with four EF-hand calcium-binding domains. It is structurally similar to calmodulin and is predicted to participate in calcium-dependent cellular processes, including signal transduction and gene expression regulation. The protein is localized in the cytoplasm and plasma membrane. Its precise biological functions remain under investigation, but it may modulate calcium-sensitive pathways in tissues such as testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALML6 Knockout HEK293 Cell Line | EDJ-KQ1224 | Human | 163688 | Details Get a Quote |
| CALML6 Knockout HeLa Cell Line | EDJ-KQ58862 | Human | 163688 | Details Get a Quote |
| CALML6 Knockout A-549 Cell Line | EDJ-KQ67353 | Human | 163688 | Details Get a Quote |
| CALML6 Knockout HCT 116 Cell Line | EDJ-KQ75744 | Human | 163688 | Details Get a Quote |
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