C1QB (complement C1q B chain)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 713
Gene name Complement C1q B chain
Gene symbol C1QB
Synonyms (NCBI Gene)
C1QD2
Chromosome 1
Chromosome location 1p36.12
Summary 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.
3
Gene SNPs Other IDs 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.
1
Gene SNPs Other IDs Associated diseases
Show/Hide all (1)
miRTarBase ID miRNA Experiments Reference
MIRT030305 hsa-miR-26b-5p Microarray 19088304
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
27
Gene SNPs Other IDs 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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
120570 1242 ENSG00000173369
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.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1Q deficiency Pathogenic rs34813378 RCV000508980
C1Q deficiency 2 Likely pathogenic; Pathogenic rs751172449, rs1361922961 RCV003221349
RCV003221354
Show/Hide Unknown Diseases (2)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
C1QB-related disorder Likely benign; Uncertain significance; Benign rs146518300, rs2522286150, rs77379868, rs111512332, rs142278562, rs149718049 RCV003923764
RCV003403011
RCV003915879
RCV003905894
RCV003922947
RCV003945903
Cholangiocarcinoma Likely benign rs145215179 RCV005925886
Show/Hide Text Mining Associations (53)
Associations from Text MiningDisease 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