C1QA (complement C1q A chain)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 712
Gene name Complement C1q A chain
Gene symbol C1QA
Synonyms (NCBI Gene)
C1QD1
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes the A-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. C1
SNPs SNP information provided by dbSNP.
3
Gene SNPs Other IDs Associated diseases
Show/Hide all (3)
SNP ID Visualize variation Clinical significance Consequence
rs34139950 G>A Pathogenic Stop gained, coding sequence variant
rs121909581 C>T Pathogenic Stop gained, coding sequence variant
rs1570073403 G>A Likely-pathogenic, uncertain-significance Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
22
Gene SNPs Other IDs Associated diseases
Show/Hide all (22)
miRTarBase ID miRNA Experiments Reference
MIRT017487 hsa-miR-335-5p Microarray 18185580
MIRT842126 hsa-miR-1275 CLIP-seq
MIRT842127 hsa-miR-1293 CLIP-seq
MIRT842128 hsa-miR-3667-3p CLIP-seq
MIRT842129 hsa-miR-4292 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
47
Gene SNPs Other IDs Associated diseases
Show/Hide all (47)
GO ID Ontology Definition Evidence Reference
GO:0001540 Function Amyloid-beta binding TAS 15269255
GO:0001774 Process Microglial cell activation IEA
GO:0001774 Process Microglial cell activation ISS
GO:0001786 Function Phosphatidylserine binding IDA 18250442
GO:0001791 Function IgM binding IDA 12847249, 19006321
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
120550 1241 ENSG00000173372
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02745
Protein name Complement C1q subcomponent subunit A
Protein function Core component of the complement C1 complex, a multiprotein complex that initiates the classical pathway of the complement system, a cascade of proteins that leads to phagocytosis and breakdown of pathogens and signaling that strengthens the ada
PDB 1PK6 , 2JG8 , 2JG9 , 2WNU , 2WNV , 5HKJ , 5HZF , 6FCZ , 6Z6V , 9C9L , 9C9U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01391 Collagen 59 → 112 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 116 → 241 C1q domain Domain
Sequence
Sequence length 245
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
13
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
C1Q deficiency Likely pathogenic; Pathogenic rs952339666, rs121909581, rs34139950, rs1570073403, rs1642221044 RCV001806361
RCV000018602
RCV000508985
RCV001028023
RCV001251118
★★★★★
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
C1Q deficiency 1 Likely pathogenic rs1570073403 RCV003984847
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (11)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS — Disgenet, Orphanet
Disgenet, Orphanet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
C1QA-related disorder Likely benign; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARCINOMA, BASAL CELL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CLASSICAL COMPLEMENT PATHWAY ABNORMALITY — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (136)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 14751769, 37480051, 39188714 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 34795060 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloid Neuropathies Familial Amyloid neuropathy Pubtator 31019999 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Amyloidosis Amyloidosis BEFREE 30283032
★★★★★
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 30569170 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Angioedemas Hereditary Angioedema Pubtator 33388640 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis HPO_DG
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 23607884, 32253242 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Atherosclerosis Atherosclerosis Pubtator 20833838, 31739194, 31824501, 35085285, 36705413, 39188714 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only