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... See more...

Aliases for C1QB Gene

Aliases for C1QB Gene

  • Complement C1q B Chain 2 3 5
  • Complement Component 1, Q Subcomponent, Beta Polypeptide 2 3
  • Complement Component 1, Q Subcomponent, B Chain 2 3
  • Complement C1q Subcomponent Subunit B 3 4
  • Complement C1q Chain B 2 3
  • Complement Subcomponent C1q Chain B 3
  • Complement Component C1q, B Chain 3

External Ids for C1QB Gene

Previous GeneCards Identifiers for C1QB Gene

  • GC01P022555
  • GC01P022014
  • GC01P022125
  • GC01P022449
  • GC01P022455
  • GC01P022725
  • GC01P022852
  • GC01P022979
  • GC01P021227

Summaries for C1QB Gene

Entrez Gene Summary for C1QB 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, 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]

GeneCards Summary for C1QB Gene

C1QB (Complement C1q B Chain) is a Protein Coding gene. Diseases associated with C1QB include C1q Deficiency and Immunodeficiency Due To A Classical Component Pathway Complement Deficiency. Among its related pathways are Complement Pathway and Pertussis. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is C1QC.

UniProtKB/Swiss-Prot Summary for C1QB Gene

  • C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.

Additional gene information for C1QB Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QB Gene

Genomics for C1QB Gene

GeneHancer (GH) Regulatory Elements for C1QB Gene

Promoters and enhancers for C1QB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J022653 Promoter 1.1 EPDnew Ensembl 500.7 +1.8 1832 2.8 HDAC2 RBM25 BCOR CTCF ADNP ZNF768 RAD21 KDM1A ZMYM3 ZFP36 C1QB ENSG00000225952 LINC00339 lnc-C1QB-1
GH01J022676 Enhancer 1.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas 12.1 +24.7 24738 2.2 ZNF300 BCLAF1 TSC22D4 ZNF148 SALL2 ZNF707 ZFHX2 ZNF621 CTCF EGR1 LINC01355 HNRNPR ZNF436-AS1 KDM1A USP48 C1QB ENSG00000225952 LACTBL1 lnc-C1QB-1
GH01J022672 Enhancer 0.8 Ensembl CraniofacialAtlas 12.1 +21.0 20953 1.6 CTCF REST RFX1 RAD21 TRIM22 SMC3 ZNF341 RBM25 GATA3 ZNF654 C1QB LACTBL1 lnc-C1QB-1
GH01J022643 Promoter 1 EPDnew Ensembl 5.3 -7.7 -7661 3.4 ZNF316 MAFF MAFK POLR2A MAFG GLIS1 SPI1 ZFP36 ETS2 EMSY C1QC LACTBL1 C1QB C1QA
GH01J022851 Enhancer 0.9 FANTOM5 Ensembl CraniofacialAtlas 2.2 +200.0 199992 6.1 ZIC2 POLR2A RBM25 NR3C1 BCOR POU2F2 EBF1 HIC1 ZNF768 ZMYM3 EPHB2 C1QA C1QB C1QC MIR4253 ENSG00000225952
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QB

Top Transcription factor binding sites by QIAGEN in the C1QB gene promoter:
  • AhR
  • AML1a
  • AREB6
  • Arnt
  • c-Ets-1
  • C/EBPalpha
  • E47
  • HEN1
  • IRF-7A
  • Pax-5

Genomic Locations for C1QB Gene

Genomic Locations for C1QB Gene
chr1:22,652,762-22,661,637
(GRCh38/hg38)
Size:
8,876 bases
Orientation:
Plus strand
chr1:22,979,255-22,988,031
(GRCh37/hg19)
Size:
8,777 bases
Orientation:
Plus strand

Genomic View for C1QB Gene

Genes around C1QB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QB Gene

Proteins for C1QB Gene

  • Protein details for C1QB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02746-C1QB_HUMAN
    Recommended name:
    Complement C1q subcomponent subunit B
    Protein Accession:
    P02746
    Secondary Accessions:
    • Q5T959
    • Q96H17

    Protein attributes for C1QB Gene

    Size:
    253 amino acids
    Molecular mass:
    26722 Da
    Quaternary structure:
    • C1 is a calcium-dependent trimolecular complex of C1q, c1r and C1s in the molar ration of 1:2:2. C1q subcomponent is composed of nine subunits, six of which are disulfide-linked dimers of the A and B chains, and three of which are disulfide-linked dimers of the C chain.

    Three dimensional structures from OCA and Proteopedia for C1QB Gene

neXtProt entry for C1QB Gene

Post-translational modifications for C1QB Gene

  • Hydroxylated on lysine and proline residues. Hydroxylated lysine residues can be glycosylated. Human C1Q contains up to 68.3 hydroxylysine-galactosylglucose residues and up to 2.5 hydroxylysine-galactose per molecule. Total percentage hydroxylysine residues glycosylated is 86.4%.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1QB Gene

No data available for DME Specific Peptides for C1QB Gene

Domains & Families for C1QB Gene

Gene Families for C1QB Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for C1QB Gene

Blocks:
  • Complement C1q protein
  • Collagen triple helix repeat
  • Collagen helix repeat
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for C1QB Gene

GenScript: Design optimal peptide antigens:
  • Complement C1q subcomponent subunit B (C1QB_HUMAN)
  • Complement component 1, q subcomponent, B chain (Q5T960_HUMAN)
  • Complement subcomponent C1q chain B (Q6LDZ7_HUMAN)
genes like me logo Genes that share domains with C1QB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1QB Gene

Function for C1QB Gene

Molecular function for C1QB Gene

UniProtKB/Swiss-Prot Function:
C1q associates with the proenzymes C1r and C1s to yield C1, the first component of the serum complement system. The collagen-like regions of C1q interact with the Ca(2+)-dependent C1r(2)C1s(2) proenzyme complex, and efficient activation of C1 takes place on interaction of the globular heads of C1q with the Fc regions of IgG or IgM antibody present in immune complexes.
GENATLAS Biochemistry:
complement component 1,q subcomponent,beta polypeptide (2.5kb),classical pathway of C3 activation,see C1Q@

Phenotypes From GWAS Catalog for C1QB Gene

Gene Ontology (GO) - Molecular Function for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI,IEA 72407240
GO:0042803 protein homodimerization activity IEA --
genes like me logo Genes that share ontologies with C1QB: view
genes like me logo Genes that share phenotypes with C1QB: view

Human Phenotype Ontology for C1QB Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for C1QB Gene

miRTarBase miRNAs that target C1QB

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for C1QB Gene

Localization for C1QB Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QB Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1QB gene
Compartment Confidence
extracellular 5
plasma membrane 2
cytoskeleton 2
nucleus 2
cytosol 2
lysosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005581 collagen trimer IEA --
GO:0005602 complement component C1 complex TAS 1706597
GO:0005623 cell ISS --
GO:0045202 synapse ISS --
genes like me logo Genes that share ontologies with C1QB: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1QB Gene

Pathways & Interactions for C1QB Gene

genes like me logo Genes that share pathways with C1QB: view

Pathways by source for C1QB Gene

1 GeneGo (Thomson Reuters) pathway for C1QB Gene
  • Immune response Classical complement pathway
2 Qiagen pathways for C1QB Gene
  • Classical Complement Pathway
  • Complement Pathway

Gene Ontology (GO) - Biological Process for C1QB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006956 complement activation TAS --
GO:0006958 complement activation, classical pathway TAS --
GO:0030449 regulation of complement activation TAS --
GO:0045087 innate immune response IEA --
GO:0048839 inner ear development IEA --
genes like me logo Genes that share ontologies with C1QB: view

No data available for SIGNOR curated interactions for C1QB Gene

Drugs & Compounds for C1QB Gene

(20) Drugs for C1QB Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Abciximab Approved Pharma Target 66
Alefacept Approved, Investigational, Withdrawn Pharma Target 40
alemtuzumab Approved, Investigational Pharma Target Therapeutic Antibodies 344
Basiliximab Approved, Investigational Pharma Target 146
Bevacizumab Approved, Investigational Pharma Target VEGF antagonist, Therapeutic Antibodies, Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 2327
genes like me logo Genes that share compounds with C1QB: view

Transcripts for C1QB Gene

mRNA/cDNA for C1QB Gene

2 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1QB Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5
SP1:
SP2: -
SP3: -

Relevant External Links for C1QB Gene

GeneLoc Exon Structure for
C1QB

Expression for C1QB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1QB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for C1QB Gene

This gene is overexpressed in Spleen (x14.2).

Protein differential expression in normal tissues from HIPED for C1QB Gene

This gene is overexpressed in Plasma (15.4), Serum (14.8), and Synovial fluid (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1QB Gene



Protein tissue co-expression partners for C1QB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QB

SOURCE GeneReport for Unigene cluster for C1QB Gene:

Hs.8986

Evidence on tissue expression from TISSUES for C1QB Gene

  • Nervous system(4.6)
  • Liver(4.5)
  • Spleen(3.1)
  • Lymph node(2.5)
  • Lung(2.3)
  • Heart(2.2)
  • Adrenal gland(2.1)
  • Gall bladder(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QB Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • ear
  • eye
  • face
  • head
  • lip
  • meninges
  • mouth
  • neck
  • scalp
  • thyroid
Thorax:
  • bronchus
  • esophagus
  • heart
  • lung
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • lymph node
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with C1QB: view

No data available for mRNA Expression by UniProt/SwissProt for C1QB Gene

Orthologs for C1QB Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1QB 31 30
  • 98.28 (n)
OneToOne
dog
(Canis familiaris)
Mammalia C1QB 31 30
  • 85.8 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C1QB 31 30
  • 81.14 (n)
OneToOne
mouse
(Mus musculus)
Mammalia C1qb 17 31 30
  • 78.88 (n)
rat
(Rattus norvegicus)
Mammalia C1qb 30
  • 78.62 (n)
oppossum
(Monodelphis domestica)
Mammalia C1QB 31
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves C1QB 31 30
  • 66.2 (n)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.24421 30
zebrafish
(Danio rerio)
Actinopterygii c1qb 31
  • 32 (a)
OneToOne
Species where no ortholog for C1QB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QB Gene

ENSEMBL:
Gene Tree for C1QB (if available)
TreeFam:
Gene Tree for C1QB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QB: view image

Paralogs for C1QB Gene

(13) SIMAP similar genes for C1QB Gene using alignment to 5 proteins:

  • C1QB_HUMAN
  • D6R934_HUMAN
  • D6RA08_HUMAN
  • D6RGJ1_HUMAN
  • Q6LDZ7_HUMAN
genes like me logo Genes that share paralogs with C1QB: view

Variants for C1QB Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QB Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
714638 Benign: not provided 22,660,957(+) T/C SYNONYMOUS_VARIANT
722530 Likely Benign: not provided 22,660,941(+) C/T MISSENSE_VARIANT
725822 Benign: not provided 22,659,564(+) C/G SYNONYMOUS_VARIANT
753564 Benign: not provided 22,661,119(+) C/T SYNONYMOUS_VARIANT
775523 Benign: not provided 22,659,522(+) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for C1QB Gene

Structural Variations from Database of Genomic Variants (DGV) for C1QB Gene

Variant ID Type Subtype PubMed ID
esv1510090 CNV deletion 17803354
esv2742989 CNV deletion 23290073
esv2745230 CNV deletion 23290073
esv2745241 CNV deletion 23290073
esv2745253 CNV deletion 23290073
esv2745264 CNV deletion 23290073
esv34161 CNV loss 18971310

Variation tolerance for C1QB Gene

Residual Variation Intolerance Score: 38.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.76; 16.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QB Gene

Human Gene Mutation Database (HGMD)
C1QB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QB

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QB Gene

Disorders for C1QB Gene

MalaCards: The human disease database

(5) MalaCards diseases for C1QB Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
c1q deficiency
  • c1qd
immunodeficiency due to a classical component pathway complement deficiency
  • immunodeficiency due to c1, c4, or c2 component complement deficiency
lupus erythematosus
  • systemic lupus erythematosus
glomerulonephritis
  • bright's disease
systemic lupus erythematosus
  • sle
- elite association - COSMIC cancer census association via MalaCards
Search C1QB in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

C1QB_HUMAN
  • Complement component C1q deficiency (C1QD) [MIM:613652]: A disorder caused by impaired activation of the complement classical pathway. It generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis. {ECO:0000269 PubMed:9476130}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for C1QB Gene

glomerulonephritis,lupus systemic syndrome

Additional Disease Information for C1QB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with C1QB: view

Publications for C1QB Gene

  1. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  2. Risk of meningioma and common variation in genes related to innate immunity. (PMID: 20406964) Rajaraman P … Inskip PD (Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2010) 3 41 54
  3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PMID: 20438785) Han S … Kang D (Human immunology 2010) 3 41 54
  4. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PMID: 20528885) Rafiq S … Eggleton P (Clinical and experimental immunology 2010) 3 41 54
  5. Complement C1Q polymorphisms modulate onset in familial amyloidotic polyneuropathy TTR Val30Met. (PMID: 19493541) Dardiotis E … Kyriakides T (Journal of the neurological sciences 2009) 3 41 54

Products for C1QB Gene

Sources for C1QB Gene