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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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CAMLG
calcium modulating ligand
Chromosome 5 · 5q31.1
NCBI Gene: 819Ensembl: ENSG00000164615.7HGNC: HGNC:1471UniProt: P49069
80PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingubiquitin protein ligase bindingcytoplasmendoplasmic reticulumneurodegenerative diseaseAlzheimer diseaseParkinson diseaselysosomal storage disease
✦AI Summary

CAMLG (calcium modulating ligand) is a multifunctional protein with primary roles in protein trafficking and calcium signaling. Its canonical function involves tail-anchored (TA) protein insertion into the endoplasmic reticulum membrane, where it acts as a membrane receptor alongside GET1/WRB for the soluble chaperone GET3/TRC40 1. CAMLG is essential for GET1 stability and is required for survival of peripheral follicular B cells [UniProt annotations]. Beyond ER protein trafficking, CAMLG stimulates calcium signaling in T cells by regulating intracellular calcium elevation 2, and serves as a host target for pathogenic interactions, including with viral and bacterial proteins 34. Clinically, CAMLG is associated with multiple neurological and systemic disorders. Loss-of-function mutations cause CAMLG-CDG (congenital disorder of glycosylation), presenting with psychomotor disability, hypotonia, epilepsy, and combined glycosylation defects 1. CAMLG variants confer risk for Parkinson's disease through effects on lysosomal protein levels, with higher neuronal expression in Lewy body disease cases 5. Additionally, increased brain CAMLG protein abundance is causally associated with amyotrophic lateral sclerosis risk 6, while elevated CAMLG levels correlate with reduced insomnia risk 7. These findings suggest CAMLG dysfunction contributes to neurodegenerative disease pathogenesis through both membrane trafficking and cellular signaling mechanisms.

Sources cited
1
CAMLG acts as a membrane receptor with GET1 for TA protein insertion into ER and its deficiency causes congenital disorder of glycosylation
PMID: 35262690
2
CAMLG variants confer Parkinson's disease risk and impact lysosomal protein levels in cerebrospinal fluid
PMID: 40053464
3
CAMLG is targeted by miR-34a-5p and involved in calcium signaling and T-cell activation
PMID: 30262862
4
CAMLG interacts with viral p7 protein and regulates ER calcium permeability
PMID: 30154321
5
CAMLG is a major binding partner for bacterial PilA protein and modulates intracellular calcium signaling
PMID: 23266901
6
Increased CAMLG protein abundance is causally associated with amyotrophic lateral sclerosis risk
PMID: 37148340
7
Higher CAMLG protein levels are causally associated with lower insomnia risk
PMID: 39827250
Disease Associationsⓘ21
neurodegenerative diseaseOpen Targets
0.57Moderate
Alzheimer diseaseOpen Targets
0.51Moderate
Parkinson diseaseOpen Targets
0.49Moderate
lysosomal storage diseaseOpen Targets
0.49Moderate
multiple sclerosisOpen Targets
0.49Moderate
congenital disorder of glycosylation, type IIzOpen Targets
0.22Weak
pulmonary embolismOpen Targets
0.09Suggestive
lymphomaOpen Targets
0.07Suggestive
cancerOpen Targets
0.05Suggestive
insomniaOpen Targets
0.05Suggestive
breast cancerOpen Targets
0.04Suggestive
glioblastoma multiformeOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.02Suggestive
endometrial cancerOpen Targets
0.02Suggestive
hepatocellular carcinomaOpen Targets
0.02Suggestive
B-cell non-Hodgkins lymphomaOpen Targets
0.02Suggestive
Lewy body dementiaOpen Targets
0.02Suggestive
amyotrophic lateral sclerosisOpen Targets
0.01Suggestive
Mobius syndromeOpen Targets
0.01Suggestive
infectionOpen Targets
0.01Suggestive
Congenital disorder of glycosylation 2ZUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
UBL4AProtein interaction100%TNFSF13BProtein interaction100%TNFRSF13BProtein interaction100%TNFRSF13CProtein interaction99%PPIBProtein interaction97%AGTRAPProtein interaction84%
Tissue Expression6 tissues
Brain
100%
Ovary
98%
Bone Marrow
52%
Lung
43%
Heart
42%
Liver
36%
Gene Interaction Network
Click a node to explore
CAMLGUBL4ATNFSF13BTNFRSF13BTNFRSF13CPPIBAGTRAP
PROTEIN STRUCTURE
Preparing viewer…
PDB8CR1 · 3.20 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.23LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.56–1.23]
RankingsWhere CAMLG stands among ~20K protein-coding genes
  • #5,929of 20,598
    Most Researched80
  • #12,924of 17,882
    Most Constrained (LOEUF)1.23
Genes detectedCAMLG
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes.
PMID: 40053464
Ann Clin Transl Neurol · 2025
1.00
2
The gene for calcium-modulating cyclophilin ligand (CAMLG) is located on human chromosome 5q23 and a syntenic region of mouse chromosome 13.
PMID: 8824814
Genomics · 1996
0.90
3
Characterizing Genetic-Predisposed Proteins Involving Insomnia by Integrating Genome-Wide Association Study Summary Statistics.
PMID: 39827250
Mol Neurobiol · 2025
0.80
4
CAMLG-CDG: a novel congenital disorder of glycosylation linked to defective membrane trafficking.
PMID: 35262690
Hum Mol Genet · 2022
0.70
5
Classical Swine Fever Virus p7 Protein Interacts with Host Protein CAMLG and Regulates Calcium Permeability at the Endoplasmic Reticulum.
PMID: 30154321
Viruses · 2018
0.60