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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
C1QA
complement C1q A chain
Chromosome 1 Β· 1p36.12
NCBI Gene: 712Ensembl: ENSG00000173372.19HGNC: HGNC:1241UniProt: P02745
204PubMed Papers
21Diseases
0Drugs
12Pathogenic Variants
RESEARCH IMPACT
Trending
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
IgM bindingprotein bindingcomplement component C1q complexIgG bindingC1Q deficiency 1C1Q deficiencyimmunodeficiency due to a classical component pathway complement deficiencycomplement deficiency
✦AI Summary

C1QA encodes the A chain of complement component C1q, a core structural component of the C1 complex that initiates the classical complement pathway 1. C1QA, together with C1QB and C1QC, recognizes and binds the Fc regions of IgG or IgM antibodies complexed with antigens, activating the complement cascade leading to pathogen phagocytosis and immune signaling 234. Immunoglobulin binding activates the C1R proenzyme, which cleaves C1S to initiate the downstream proteolytic cascade 4. C1Q requires a hexamer of IgG or pentameric IgM for full activation 34. Beyond classical pathogen immunity, C1QA participates in homeostatic functions including recognition of phosphatidylserine on apoptotic cells and complement-mediated synaptic pruning by microglia 56. C1QA is upregulated in alternatively activated macrophages and expanded monocyte populations during infection and inflammatory conditions 78. C1QA dysfunction is implicated in multiple diseases: neurodegeneration through aberrant synaptic pruning 6, atherosclerosis and stroke risk 9, and connective tissue disorders showing reduced serum C1QA levels 10. Dysregulation of C1QA expression is also associated with Alzheimer's disease pathology 11 and enhanced immune responses in fibrotic conditions like keloids 12.

Sources cited
1
C1QA encodes the A chain of complement component C1q, a core structural component of the C1 complex that initiates the classical complement pathway .
PMID: 12847249
2
C1QA, together with C1QB and C1QC, recognizes and binds the Fc regions of IgG or IgM antibodies complexed with antigens, activating the complement cascade leading to pathogen phagocytosis and immune signaling , , .
PMID: 29449492
3
Beyond classical pathogen immunity, C1QA participates in homeostatic functions including recognition of phosphatidylserine on apoptotic cells and complement-mediated synaptic pruning by microglia , .
PMID: 27114033
4
C1QA dysfunction is implicated in multiple diseases: neurodegeneration through aberrant synaptic pruning , atherosclerosis and stroke risk , and connective tissue disorders showing reduced serum C1QA levels .
PMID: 38179058
5
C1QA dysfunction is implicated in multiple diseases: neurodegeneration through aberrant synaptic pruning , atherosclerosis and stroke risk , and connective tissue disorders showing reduced serum C1QA levels .
PMID: 40972649
6
Dysregulation of C1QA expression is also associated with Alzheimer's disease pathology and enhanced immune responses in fibrotic conditions like keloids .
PMID: 39188714
7
Dysregulation of C1QA expression is also associated with Alzheimer's disease pathology and enhanced immune responses in fibrotic conditions like keloids .
PMID: 35990663
Disease Associationsβ“˜21
C1Q deficiency 1Open Targets
0.63Moderate
C1Q deficiencyOpen Targets
0.62Moderate
immunodeficiency due to a classical component pathway complement deficiencyOpen Targets
0.56Moderate
complement deficiencyOpen Targets
0.46Moderate
dengue diseaseOpen Targets
0.37Weak
systemic lupus erythematosus related to C1QAOpen Targets
0.37Weak
smoking initiationOpen Targets
0.33Weak
benign urinary system neoplasmOpen Targets
0.29Weak
genetic disorderOpen Targets
0.19Weak
infectionOpen Targets
0.09Suggestive
schizophreniaOpen Targets
0.07Suggestive
type 2 diabetes mellitusOpen Targets
0.06Suggestive
complement component 3 deficiencyOpen Targets
0.05Suggestive
autosomal dominant epilepsy with auditory featuresOpen Targets
0.05Suggestive
nephrotic syndromeOpen Targets
0.05Suggestive
pulmonary tuberculosisOpen Targets
0.05Suggestive
Generalized epilepsy with febrile seizures-plusOpen Targets
0.05Suggestive
Autosomal recessive systemic lupus erythematosusOpen Targets
0.05Suggestive
autosomal systemic lupus erythematosus type 16Open Targets
0.05Suggestive
focal segmental glomerulosclerosisOpen Targets
0.05Suggestive
C1q deficiency 1UniProt
Pathogenic Variants12
NM_015991.4(C1QA):c.622C>T (p.Gln208Ter)Pathogenic
C1Q deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 208
NM_015991.4(C1QA):c.470G>A (p.Gly157Asp)Likely pathogenic
not provided|C1Q deficiency 1|C1Q deficiency
β˜…β˜…β˜†β˜†2024β†’ Residue 157
NM_015991.4(C1QA):c.79C>T (p.Arg27Ter)Pathogenic
C1Q deficiency|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 27
NM_015991.4(C1QA):c.151_152insCGGGTAAGCA (p.Gln51fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2026β†’ Residue 51
NM_015991.4(C1QA):c.334C>T (p.Gln112Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 112
NM_015991.4(C1QA):c.129del (p.Arg44fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 44
NM_015991.4(C1QA):c.306_307insG (p.Lys103fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2023β†’ Residue 103
NM_015991.4(C1QA):c.577dup (p.Thr193fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 193
NM_015991.4(C1QA):c.209del (p.Gln70fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2022β†’ Residue 70
NM_015991.4(C1QA):c.469G>T (p.Gly157Cys)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2020β†’ Residue 157
NM_015991.4(C1QA):c.210delinsAA (p.Gly71fs)Likely pathogenic
C1Q deficiency
β˜…β˜†β˜†β˜†β†’ Residue 71
NM_015991.4(C1QA):c.648G>A (p.Trp216Ter)Pathogenic
C1Q deficiency
β˜†β˜†β˜†β˜†2017β†’ Residue 216
View on ClinVar β†—
Related Genes
CFBProtein interaction97%C4B_2Protein interaction97%ITGB2Protein interaction97%CD163Protein interaction92%LOC102723407Protein interaction92%ITGAMProtein interaction90%
Tissue Expression6 tissues
Lung
100%
Heart
35%
Liver
25%
Bone Marrow
18%
Brain
17%
Ovary
16%
Gene Interaction Network
Click a node to explore
C1QACFBC4B_2ITGB2CD163LOC102723407ITGAM
PROTEIN STRUCTURE
Preparing viewer…
PDB2WNV Β· 1.25 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
1.00LoF Tolerant
pLIβ“˜
0.06Tolerant
Observed/Expected LoF0.53 [0.30–1.00]
RankingsWhere C1QA stands among ~20K protein-coding genes
  • #2,055of 20,598
    Most Researched204 Β· top 10%
  • #2,651of 5,498
    Most Pathogenic Variants12
  • #9,608of 17,882
    Most Constrained (LOEUF)1.00
Genes detectedC1QA
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Standardized protocols for differentiation of THP-1 cells to macrophages with distinct M(IFNΞ³+LPS), M(IL-4) and M(IL-10) phenotypes.
PMID: 32033786
J Immunol Methods Β· 2020
1.00
2
An integrative analysis of single-cell and bulk transcriptome and bidirectional mendelian randomization analysis identified C1Q as a novel stimulated risk gene for Atherosclerosis.
PMID: 38179058
Front Immunol Β· 2023
0.90
3
Single-cell multi-omics analysis of the immune response in COVID-19.
PMID: 33879890
Nat Med Β· 2021
0.80
4
Progranulin Deficiency Promotes Circuit-Specific Synaptic Pruning by Microglia via Complement Activation.
PMID: 27114033
Cell Β· 2016
0.70
5
NLRP12/C1qA positive feedback in tumor-associated macrophages regulates immunosuppression through LILRB4/NF-ΞΊB pathway in lung adenocarcinoma.
PMID: 39527158
Cancer Immunol Immunother Β· 2024
0.68