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7 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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C1QL4
complement C1q like 4
Chromosome 12 · 12q13.12
NCBI Gene: 338761Ensembl: ENSG00000186897.6HGNC: HGNC:31416UniProt: A0A3B0INP7
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingtrans-synaptic signaling, modulating synaptic transmissionmaintenance of synapse structureGO:0005615breast cancermetabolic syndromeobesityhemoglobin D disease
✦AI Summary

C1QL4 is a secreted C1q-like protein with diverse roles in neural and non-neural tissues. Neurologically, C1QL4 binds with high affinity to the cell-adhesion G protein-coupled receptor BAI3 1, where it regulates synapse formation and density in the brain 1. The protein shows distinct spatial and temporal expression patterns in the developing and adult mouse brain, forming both homomeric and heteromeric complexes 2. Beyond the nervous system, C1QL4 promotes testosterone production in testicular Leydig cells through BAI3-dependent and BAI3-independent mechanisms involving ERK1/2 and cAMP/PKA signaling cascades 3. C1QL4 also stimulates endothelial cell angiogenesis via ERK1/2 phosphorylation 4. Clinically, elevated C1QL4 expression correlates with increased breast cancer malignancy and poor prognosis across molecular subtypes 5. C1QL4 was identified as a differentially expressed gene in recurrent glioblastoma multiforme 6. Additionally, C1QL4 gene hypermethylation was detected in coronary artery disease patients 7, suggesting potential epigenetic involvement in cardiovascular pathology. These findings indicate C1QL4 functions as a pleiotropic signaling molecule with implications in oncology and cardiovascular disease.

Sources cited
1
C1QL4 binds BAI3 receptor and regulates synapse density in cultured neurons
PMID: 21262840
2
C1QL4 is secreted, forms complexes, and has distinct expression in brain
PMID: 20525073
3
C1QL4 increases testosterone production in Leydig cells via BAI3-dependent and independent pathways
PMID: 30608882
4
C1QL4 promotes endothelial cell angiogenesis through ERK1/2 activation
PMID: 27734226
5
High C1QL4 expression associates with increased breast cancer malignancy and poor prognosis
PMID: 40702255
6
C1QL4 is differentially expressed in recurrent glioblastoma multiforme
PMID: 34238116
7
C1QL4 gene shows hypermethylation in coronary artery disease patients
PMID: 24582973
Disease Associationsⓘ20
breast cancerOpen Targets
0.09Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
obesityOpen Targets
0.06Suggestive
hemoglobin D diseaseOpen Targets
0.03Suggestive
non-small cell lung carcinomaOpen Targets
0.02Suggestive
Glucose intoleranceOpen Targets
0.01Suggestive
neoplasmOpen Targets
0.01Suggestive
Insulin resistanceOpen Targets
0.01Suggestive
ataxia telangiectasiaOpen Targets
0.01Suggestive
glioblastoma multiformeOpen Targets
0.01Suggestive
cancerOpen Targets
0.00Suggestive
Myocardial IschemiaOpen Targets
0.00Suggestive
central nervous system cancerOpen Targets
0.00Suggestive
uterine leiomyosarcomaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
lymph node metastatic carcinomaOpen Targets
0.00Suggestive
coronary artery diseaseOpen Targets
0.00Suggestive
cardiovascular diseaseOpen Targets
0.00Suggestive
steatosisOpen Targets
0.00Suggestive
triple-negative breast cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CBLN3Shared pathway100%CBLN2Shared pathway67%CBLN4Shared pathway67%C1QL1Shared pathway50%C1QL3Shared pathway50%C1QL2Shared pathway40%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
100%
Lung
0%
Ovary
0%
Heart
0%
Liver
0%
Gene Interaction Network
Click a node to explore
C1QL4CBLN3CBLN2CBLN4C1QL1C1QL3C1QL2
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q86Z23
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.27Tolerant
Observed/Expected LoF0.42 [0.22–0.89]
RankingsWhere C1QL4 stands among ~20K protein-coding genes
  • #17,283of 20,598
    Most Researched9
  • #8,028of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedC1QL4
Sources retrieved7 papers
Response time—
📄 Sources
7▼
1
Prognostic implications of complement C1q-like 4 expression in breast cancer.
PMID: 40702255
Sci Rep · 2025
1.00
2
The cell-adhesion G protein-coupled receptor BAI3 is a high-affinity receptor for C1q-like proteins.
PMID: 21262840
Proc Natl Acad Sci U S A · 2011
0.86
3
Genome wide DNA methylation profiling for epigenetic alteration in coronary artery disease patients.
PMID: 24582973
Gene · 2014
0.71
4
Expression patterns of C1ql4 and its cell-adhesion GPCR Bai3 in the murine testis and functional roles in steroidogenesis.
PMID: 30608882
FASEB J · 2019
0.57
5
Distinct expression of C1q-like family mRNAs in mouse brain and biochemical characterization of their encoded proteins.
PMID: 20525073
Eur J Neurosci · 2010
0.43