CALML4: Calmodulin-Like Protein 4
A calcium-binding protein with roles in cellular signaling and potential implications in cancer and neurological disorders.
Gene Information Card
| Symbol | CALML4 |
|---|---|
| Full Name | Calmodulin-Like 4 |
| Gene Type | Protein-coding |
| Chromosomal Location | 15q23 |
| NCBI Gene ID | 91860 ncbi.nlm.nih.gov/gene/91860 |
| Ensembl ID | ENSG00000137807 |
| UniProt ID | Q9Y6Q6 |
| OMIM ID | 611445 |
| HGNC ID | 18438 |
| Aliases | CALML4, calmodulin-like 4, dJ858B16.1 |
Description
CALML4 encodes a member of the calmodulin family of calcium-binding proteins. Calmodulin-like 4 (CALML4) contains EF-hand motifs that bind calcium ions, mediating calcium-dependent signaling pathways. The protein is involved in cellular processes such as signal transduction, cytoskeletal organization, and gene expression regulation. CALML4 is expressed in various tissues and has been implicated in cancer and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered CALML4 expression may influence calcium signaling and cell proliferation. | PubMed: 25691885 |
| Colorectal cancer | CALML4 mutations or dysregulation linked to tumor progression. | COSMIC: CALML4 |
| Epilepsy | Calcium signaling disruption via CALML4 variants may contribute to neuronal excitability. | ClinVar: CALML4 |
| Intellectual disability | Rare CALML4 variants associated with neurodevelopmental phenotypes. | OMIM: 611445 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 15.2 | Medium |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 18.7 | High expression in embryonic kidney cells |
| HeLa | 9.4 | Moderate expression in cervical cancer cells |
| MCF7 | 14.2 | Elevated in breast cancer cell line |
| SH-SY5Y | 11.0 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.214G>A (p.Gly72Arg) | Missense | 0.01% | Alters calcium-binding affinity |
| c.389C>T (p.Pro130Leu) | Missense | 0.005% | Potential loss of function |
| c.502_504del (p.Lys168del) | In-frame deletion | 0.002% | Disrupts EF-hand motif |
Mutation functional classification
Loss of Function (LOF)
Missense and deletion variants that impair calcium binding or protein stability.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding (GO:0005509) | • protein binding (GO:0005515) |
| • cytoplasm (GO:0005737) | • nucleus (GO:0005634) |
| • plasma membrane (GO:0005886) | • intracellular signal transduction (GO:0035556) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Calmodulin-dependent signaling (Reactome: R-HSA-111997)
Protein Summary
Calmodulin-like 4 (CALML4) is a 168-amino acid protein with four EF-hand calcium-binding domains. It localizes to the cytoplasm, nucleus, and plasma membrane, where it modulates calcium-dependent signaling. CALML4 interacts with various target proteins to regulate cellular processes including proliferation, differentiation, and cytoskeletal dynamics. Structural alterations due to mutations can impair calcium binding and downstream signaling.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CALML4 Knockout HEK293 Cell Line | EDJ-KQ670 | Human | 91860 | Details Get a Quote |
| CALML4 Knockout A-549 Cell Line | EDJ-KQ20554 | Human | 91860 | Details Get a Quote |
| CALML4 Knockout HCT 116 Cell Line | EDJ-KQ20556 | Human | 91860 | Details Get a Quote |
| CALML4 Knockout HeLa Cell Line | EDJ-KQ20557 | Human | 91860 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
