CAMLG: Calcium Modulating Ligand
A key regulator of calcium signaling and immune receptor function
Gene Information Card
| Symbol | CAMLG |
|---|---|
| Full Name | Calcium Modulating Ligand |
| Gene Type | Protein coding |
| Chromosomal Location | 5q23.1 |
| NCBI Gene ID | 819 ncbi.nlm.nih.gov/gene/819 |
| Ensembl ID | ENSG00000113578 |
| UniProt ID | P49069 |
| OMIM ID | 601118 |
| HGNC ID | 1460 |
| Aliases | CAMLG, CAML, CAMLG1 |
Description
The CAMLG gene encodes calcium modulating ligand, a transmembrane protein that plays a critical role in calcium signaling by regulating the activity of calcium release-activated calcium (CRAC) channels. It is involved in T-cell receptor-mediated calcium influx and NFAT activation, and has been implicated in immune function and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Immunodeficiency | Dysregulation of calcium signaling via CRAC channels | PMID: 12393793 |
| Breast cancer | Overexpression linked to tumor progression | PMID: 15674385 |
| Colorectal cancer | Altered expression affecting cell proliferation | PMID: 19029980 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.3 | Medium |
| Bone marrow | 8.7 | Low |
| Brain | 6.2 | Low |
| Heart | 5.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Jurkat T cells | 15.2 | High expression in T-cell lines |
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.4 | Low expression |
| MCF7 | 6.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.200G>A (p.Arg67Gln) | Missense | <0.01% | Altered calcium binding |
| c.345C>T (p.Thr115Met) | Missense | <0.01% | Reduced CRAC channel activity |
| c.500_501insA | Frameshift | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and missense mutations impair calcium modulating activity, leading to defective immune signaling.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • Calcium ion binding | • Calcium channel regulator activity |
| • Membrane | • Integral component of membrane |
| • Calcium-mediated signaling | • Positive regulation of NFAT protein import into nucleus |
Pathways
• Calcium signaling pathway
• NFAT activation pathway
• T-cell receptor signaling pathway
Protein Summary
The CAMLG protein (calcium modulating ligand) is a 296-amino acid transmembrane protein localized to the endoplasmic reticulum and plasma membrane. It interacts with the IP3 receptor and STIM1 to modulate calcium influx through CRAC channels, playing a pivotal role in immune cell activation and calcium homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CAMLG Knockout HEK293 Cell Line | EDJ-KQ4190 | Human | 819 | Details Get a Quote |
| CAMLG Knockout A-549 Cell Line | EDJ-KQ26638 | Human | 819 | Details Get a Quote |
| CAMLG Knockout HCT 116 Cell Line | EDJ-KQ26639 | Human | 819 | Details Get a Quote |
| CAMLG Knockout HeLa Cell Line | EDJ-KQ26640 | Human | 819 | Details Get a Quote |
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