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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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C2CD2L
C2CD2 like
Chromosome 11 · 11q23.3
NCBI Gene: 9854Ensembl: ENSG00000172375.15HGNC: HGNC:29000UniProt: O14523
42PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transporter
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cytoplasmic side of apical plasma membraneprotein bindingphosphatidylinositol transfer activityphosphatidylinositol bindingneurodegenerative diseasemetabolic syndromebenign adult familial myoclonic epilepsydeafness
✦AI Summary

C2CD2L is a lipid-binding protein that transports phosphatidylinositol from the endoplasmic reticulum (ER) to the plasma membrane, maintaining phosphoinositide pools critical for cellular signaling 1. It localizes to ER-plasma membrane contact sites where it tethers the two bilayers and coordinates calcium and phosphoinositide signaling 1. Upon cytosolic calcium elevation, C2CD2L undergoes C-terminal phosphorylation and dissociates from the membrane, halting phosphatidylinositol transport 1. This mechanism is essential for insulin secretion: phosphatidylinositol replenishment allows PI(4,5)P2 pool restoration and calcium channel opening, priming insulin granule exocytosis 1. C2CD2L forms protein complexes with band 4.1 family members at cell-cell contact sites, where its calcium-dependent shedding from the plasma membrane is suppressed, potentially supporting contact-dependent signaling 2. Clinically, C2CD2L emerges as a candidate therapeutic target in multiple diseases. It was identified as a core protein with druggability in diabetic nephropathy through mitochondrial proteomics and Mendelian randomization 3, and as a novel candidate protein associated with chr11 kidney disease 4. Additionally, C2CD2L functions as a biomarker for insomnia 5, shows association with postoperative delirium after cardiac surgery 6, and is implicated in triple-negative breast cancer progression through a miR-491-5p-dependent mechanism 7.

Sources cited
1
C2CD2L transports phosphatidylinositol from ER to plasma membrane, coordinates calcium/phosphoinositide signaling, and regulates insulin secretion
PMID: 28209843
2
C2CD2L identified as core protein with druggability in diabetic nephropathy through Mendelian randomization analysis
PMID: 39158698
3
C2CD2L is a novel candidate therapeutic target for chronic kidney disease identified through integrated proteome-transcriptome analysis
PMID: 38898508
4
C2CD2L identified as key gene biomarker for sleep deprivation/insomnia with confirmed expression changes
PMID: 38090272
5
C2CD2L is among top three differentially expressed biomarkers associated with postoperative delirium after cardiac surgery
PMID: 39786937
6
C2CD2L is regulated by miR-491-5p in triple-negative breast cancer progression pathway
PMID: 39738500
7
C2CD2L forms protein complexes with band 4.1 family members at ER-plasma membrane junctions and cell-cell contacts
PMID: 39158698
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.24Weak
metabolic syndromeOpen Targets
0.07Suggestive
benign adult familial myoclonic epilepsyOpen Targets
0.06Suggestive
autosomal recessive nonsyndromic hearing loss 9Open Targets
0.04Suggestive
deafnessOpen Targets
0.04Suggestive
autosomal dominant nonsyndromic hearing lossOpen Targets
0.03Suggestive
neuroblastomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
type 2 diabetes mellitusOpen Targets
0.01Suggestive
triple-negative breast cancerOpen Targets
0.01Suggestive
insomniaOpen Targets
0.00Suggestive
melanomaOpen Targets
0.00Suggestive
Shwachman-Diamond syndromeOpen Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
Crohn's diseaseOpen Targets
0.00Suggestive
cervical cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
glioma susceptibility 1Open Targets
0.00Suggestive
hepatocellular carcinomaOpen Targets
0.00Suggestive
thyroid cancer, nonmedullary, 1Open Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PRELID2Shared pathway50%PRELID3BShared pathway50%PRELID3AShared pathway50%PITPNM3Shared pathway33%PITPNC1Shared pathway33%C2CD2Co-mentioned in literature29%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Liver
48%
Lung
48%
Heart
35%
Ovary
26%
Gene Interaction Network
Click a node to explore
C2CD2LPRELID2PRELID3BPRELID3APITPNM3PITPNC1C2CD2
PROTEIN STRUCTURE
Preparing viewer…
PDB5TOD · 2.96 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.49Moderately Constrained
pLIⓘ
0.98Intolerant
Observed/Expected LoF0.35 [0.25–0.49]
RankingsWhere C2CD2L stands among ~20K protein-coding genes
  • #9,841of 20,598
    Most Researched42
  • #2,934of 17,882
    Most Constrained (LOEUF)0.49 · top quartile
Genes detectedC2CD2L
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Identification of novel therapeutic targets for chronic kidney disease and kidney function by integrating multi-omics proteome with transcriptome.
PMID: 38898508
Genome Med · 2024
1.00
2
Combining mitochondrial proteomes and Mendelian randomization to identify novel therapeutic targets for diabetic nephropathy.
PMID: 40125968
Ren Fail · 2025
0.90
3
Orbitofrontal Neuroadaptations and Cross-Species Synaptic Biomarkers in Heavy-Drinking Macaques.
PMID: 28270566
J Neurosci · 2017
0.80
4
Experimental verification and identifying biomarkers related to insomnia.
PMID: 38090272
Front Neurol · 2023
0.70
5
A complex of the lipid transport ER proteins TMEM24 and C2CD2 with band 4.1 at cell-cell contacts.
PMID: 39158698
J Cell Biol · 2024
0.60