C1QC (complement C1q C chain)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 714
Gene name Complement C1q C chain
Gene symbol C1QC
Synonyms (NCBI Gene)
C1Q-CC1QD3C1QG
Chromosome 1
Chromosome location 1p36.12
Summary This gene encodes the C-chain polypeptide of serum complement subcomponent C1q, which associates with C1r and C1s to yield the first component of the serum complement system. C1q is composed of 18 polypeptide chains which include 6 A-chains, 6 B-chains, a
SNPs SNP information provided by dbSNP.
4
Gene SNPs Other IDs Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs200206736 G>A Pathogenic Missense variant, intron variant, coding sequence variant
rs377549148 C>T Pathogenic Coding sequence variant, 5 prime UTR variant, stop gained
rs752596663 G>A Pathogenic Coding sequence variant, missense variant
rs761681612 CC>-,C Pathogenic Frameshift variant, 5 prime UTR variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
17
Gene SNPs Other IDs Associated diseases
Show/Hide all (17)
miRTarBase ID miRNA Experiments Reference
MIRT842164 hsa-miR-1273d CLIP-seq
MIRT842165 hsa-miR-1286 CLIP-seq
MIRT842166 hsa-miR-185 CLIP-seq
MIRT842167 hsa-miR-3125 CLIP-seq
MIRT842168 hsa-miR-3126-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
Gene SNPs Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001786 Function Phosphatidylserine binding IDA 18250442
GO:0001791 Function IgM binding IDA 12847249, 19006321
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 28018340, 32296183
GO:0005576 Component Extracellular region IDA 18250442
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
120575 1245 ENSG00000159189
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.
P02747
Protein name Complement C1q subcomponent subunit C
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 61 → 117 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 121 → 242 C1q domain Domain
Sequence
Sequence length 245
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
15
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1Q deficiency Pathogenic rs377549148, rs200206736 RCV000018599
RCV000018600
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1Q deficiency 3 Uncertain significance rs761681612, rs752596663 RCV003221348
RCV003221355
C1QC-related disorder Likely benign rs193175681, rs141293786, rs369658525 RCV003958468
RCV003923586
RCV003978512
Show/Hide Text Mining Associations (41)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26950848, 36471423
Amyloid Neuropathies Familial Associate 31019999
Amyotrophic Lateral Sclerosis Stimulate 40033250
Atherosclerosis Associate 36644582
Atrial Fibrillation Associate 35607269, 36644582
Bipolar Disorder Associate 39616737
Blood Coagulation Disorders Associate 36507906
Brain Neoplasms Associate 26849056
Carcinoma Hepatocellular Stimulate 36471393
Carcinoma Renal Cell Associate 27319973