C1QB (complement C1q B 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.
713
Gene name Gene Name - the full gene name approved by the HGNC.
Complement C1q B chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
C1QB
Synonyms (NCBI Gene) Gene synonyms aliases
C1QD2
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 B-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(3)
SNP ID Visualize variation Clinical significance Consequence
rs34813378 G>A Pathogenic Coding sequence variant, missense variant
rs1064797108 C>- Likely-pathogenic Coding sequence variant, frameshift variant
rs1361922961 G>C,T Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT030305 hsa-miR-26b-5p Microarray 19088304
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(27)
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 7240, 12960167, 21054788, 28018340, 28325905, 32296183
GO:0005576 Component Extracellular region IDA 18250442
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
120570 1242 ENSG00000173369
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P02746
Protein name Complement C1q subcomponent subunit B
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 30 → 86 Collagen triple helix repeat (20 copies) Repeat
PF01391 Collagen 60 → 120 Collagen triple helix repeat (20 copies) Repeat
PF00386 C1q 123 → 247 C1q domain Domain
Sequence
Sequence length 253
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
C1q Deficiency c1q deficiency rs34813378 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Severe insulin-resistant type 2 diabetes N/A N/A GWAS
Show/Hide Text Mining Associations (53)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 26950848
Atherosclerosis Associate 32821283, 34122426, 39188714
Blood Coagulation Disorders Associate 36507906
Brain Neoplasms Associate 26849056
Breast Neoplasms Associate 34055036
Carcinoma Hepatocellular Stimulate 36471393
Carcinoma Non Small Cell Lung Inhibit 36969247
Carcinoma Renal Cell Associate 27319973
Cardiomyopathy Hypertrophic Associate 35126952
Cardiovascular Diseases Associate 32174066