C1QC (complement C1q C chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
714
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C1q C chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1QC
Synonyms (NCBI Gene) Gene synonyms aliases
C1Q-C, C1QD3, C1QG
Disease Acronyms (UniProt) Disease acronyms from UniProt database
C1QD3
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.12
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(17)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 28018340, 32296183
GO:0005576 Component Extracellular region NAS 9777412
GO:0005576 Component Extracellular region TAS
GO:0005581 Component Collagen trimer IEA
GO:0005615 Component Extracellular space HDA 22664934
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
120575 1245 ENSG00000159189
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Efferocytosis
Complement and coagulation cascades
Alcoholic liver disease
Prion disease
Pertussis
Chagas disease
Staphylococcus aureus infection
Coronavirus disease - COVID-19
Systemic lupus erythematosus 		  Initial triggering of complement
Classical antibody-mediated complement activation
Regulation of Complement cascade
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (3)
Causal
Disease term Disease name dbSNP ID References
C1q deficiency C1q DEFICIENCY rs377549148, rs200206736, rs121909581, rs34139950, rs34813378, rs1570073403 8630118
Complement component deficiency Complement deficiency disease rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592
View all (29 more)		 8630118
Immunodeficiency Immunodeficiency due to a classical component pathway complement deficiency rs1565678077, rs121908002, rs1421444086, rs1565688667, rs944235493, rs121918314, rs587776713, rs137852678, rs587776714, rs128620188, rs2147483647, rs1569556522, rs137853331, rs137853332, rs179363866
View all (256 more)
Show/Hide Text Mining Associations (41)
Associations from Text Mining
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