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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C1QL2
complement C1q like 2
Chromosome 2 · 2q14.2
NCBI Gene: 165257Ensembl: ENSG00000144119.5HGNC: HGNC:24181UniProt: A0A3B0IND4
6PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
maintenance of synapse structuretrans-synaptic signaling, modulating synaptic transmissionGO:0005615synaptic cleftendocrine system diseasemultiple sclerosisbone remodeling diseasehyperpituitarism
✦AI Summary

C1QL2 (complement C1q-like 2) is a synaptic organizer protein that regulates excitatory synapse formation and function in the hippocampus, particularly at mossy fiber-CA3 synapses 1. As a secreted extracellular molecule, C1QL2 recruits postsynaptic kainate receptors (KARs) to CA3 pyramidal neurons by binding their amino-terminal domains and interacting with presynaptic neurexin-3 (Nrxn3), thereby organizing the postsynaptic complex 1. This function is controlled by the transcription factor Bcl11b, which directly targets C1ql2 expression to regulate synaptic vesicle recruitment and long-term potentiation at mossy fiber-CA3 synapses 2. C1QL2 specifically modulates KAR-mediated slow channel kinetics and does not affect inhibitory synapses. In pathological contexts, C1ql2/C1ql3 double-null mice fail to recruit KARs postsynaptically even with mossy fiber sprouting, reducing recurrent circuit activity and suggesting antiepileptic potential 1. Beyond CNS function, elevated plasma C1QL2 serves as a diagnostic biomarker for primary biliary cholangitis 3, and C1QL2 (also termed CTRP10) regulates body weight in a sexually dimorphic manner 4. C1QL2 dysfunction links to cocaine addiction pathways 5 and predicts loss of HIV viral control 6, indicating broader involvement in synaptic plasticity and systemic homeostasis.

Sources cited
1
C1ql2 is a direct target of Bcl11b that regulates synaptic vesicle recruitment and long-term potentiation at mossy fiber-CA3 synapses through interaction with Nrxn3(25b+)
PMID: 38358390
2
C1ql2 and C1ql3 serve as extracellular organizers that recruit postsynaptic kainate receptors to CA3 neurons by binding KAR subunits and neurexin-3; loss of C1ql2/3 prevents KAR recruitment and reduces recurrent circuit activity
PMID: 27133466
3
C1ql2 and C1ql3 are synaptic organizers released from mossy fibers that determine postsynaptic kainate receptor localization in the hippocampus
PMID: 28219683
4
Elevated plasma C1QL2 demonstrates strong diagnostic potential for primary biliary cholangitis and correlates with increased PBC risk
PMID: 41272894
5
CTRP10/C1QL2 deficiency results in female-specific obesity with preserved metabolic health, indicating sexually dimorphic regulation of body weight
PMID: 40126547
6
C1qL2 is part of a gene coexpression network associated with cocaine use disorder involving neurotransmitter pathways
PMID: 32457073
7
C1QL2 predicts loss of HIV viral control years before occurrence in spontaneous HIV controllers
PMID: 41571634
Disease Associationsⓘ20
endocrine system diseaseOpen Targets
0.32Weak
multiple sclerosisOpen Targets
0.29Weak
bone remodeling diseaseOpen Targets
0.23Weak
hyperpituitarismOpen Targets
0.20Weak
portal hypertensionOpen Targets
0.20Weak
skin diseaseOpen Targets
0.18Weak
Abruptio PlacentaeOpen Targets
0.14Weak
uterine polypOpen Targets
0.14Weak
obesityOpen Targets
0.07Suggestive
placenta praeviaOpen Targets
0.06Suggestive
nutritional deficiency diseaseOpen Targets
0.06Suggestive
conduction system disorderOpen Targets
0.06Suggestive
Female infertility due to fertilization defectOpen Targets
0.05Suggestive
polycystic kidney disease 5Open Targets
0.04Suggestive
Genetic renal or urinary tract malformationOpen Targets
0.04Suggestive
female infertility due to oocyte meiotic arrestOpen Targets
0.04Suggestive
oocyte maturation defect 14Open Targets
0.04Suggestive
oocyte maturation defect 5Open Targets
0.04Suggestive
premature ovarian failure 19Open Targets
0.04Suggestive
oocyte maturation defect 9Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GRIK4Protein interaction71%C1QL3Shared pathway56%CBLN3Shared pathway40%C1QL4Shared pathway40%CBLN2Shared pathway33%CBLN4Shared pathway33%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
3%
Ovary
2%
Liver
2%
Heart
1%
Lung
0%
Gene Interaction Network
Click a node to explore
C1QL2GRIK4C1QL3CBLN3C1QL4CBLN2CBLN4
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q7Z5L3
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.42LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.90 [0.58–1.42]
RankingsWhere C1QL2 stands among ~20K protein-coding genes
  • #18,031of 20,598
    Most Researched6
  • #14,654of 17,882
    Most Constrained (LOEUF)1.42
Genes detectedC1QL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Regulation of hippocampal mossy fiber-CA3 synapse function by a Bcl11b/C1ql2/Nrxn3(25b+) pathway.
PMID: 38358390
Elife · 2024
1.00
2
Proteomics identifies complement protein signatures in patients with primary biliary cholangitis.
PMID: 41272894
Eur J Med Res · 2025
0.90
3
Transsynaptic Modulation of Kainate Receptor Functions by C1q-like Proteins.
PMID: 27133466
Neuron · 2016
0.80
4
The C1q complement family of synaptic organizers: not just complementary.
PMID: 28219683
Curr Opin Neurobiol · 2017
0.70
5
DNA methylation markers panel can improve prediction of response to neoadjuvant chemotherapy in luminal B breast cancer.
PMID: 32514046
Sci Rep · 2020
0.60