C1QB complement C1q B chain
Gene ID: 713, updated on 5-Mar-2024Gene type: protein coding
Also known as: C1QD2
- See all available tests in GTR for this gene
- Go to complete Gene record for C1QB
- Go to Variation Viewer for C1QB variants
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, and 6 C-chains. Each chain contains an N-terminal collagen-like region and a C-terminal C1q globular domain. C1q deficiency is associated with lupus erythematosus and glomerulonephritis. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
C1Q deficiency 2 | See labs |
Genomic context
- Location:
- 1p36.12
- Sequence:
- Chromosome: 1; NC_000001.11 (22653236..22661637)
- Total number of exons:
- 4
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for C1QB variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- C1QB database
- C1QBbase: Mutation registry for C1qB deficiency
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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