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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1QB Gene

protein-coding   GIFtS: 65
GCID: GC01P022979

Complement Component 1, Q Subcomponent, B Chain

(Previous names: complement component 1, q subcomponent, beta polypeptide)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Complement Component 1, Q Subcomponent, B Chain1 2
Complement Component 1, Q Subcomponent, Beta Polypeptide1 2
Complement C1q Subcomponent Subunit B2
Complement Component C1q, B Chain2
Complement Subcomponent C1q Chain B2

External Ids:    HGNC: 12421   Entrez Gene: 7132   Ensembl: ENSG000001733697   OMIM: 1205705   UniProtKB: P027463   

Export aliases for C1QB gene to outside databases

Previous GC identifers: GC01P022555 GC01P022014 GC01P022125 GC01P022449 GC01P022455 GC01P022725 GC01P022852 GC01P021227


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for C1QB Gene:
This gene encodes a major constituent of the human complement subcomponent C1q. C1q associates with C1r and C1s in
order to yield the first component of the serum complement system. Deficiency of C1q has been associated with
lupus erythematosus and glomerulonephritis. C1q is composed of 18 polypeptide chains: six A-chains, six B-chains,
and six C-chains. Each chain contains a collagen-like region located near the N terminus and a C-terminal
globular region. The A-, B-, and C-chains are arranged in the order A-C-B on chromosome 1. This gene encodes the
B-chain polypeptide of human complement subcomponent C1q (provided by RefSeq, Jul 2008)

GeneCards Summary for C1QB Gene: 
C1QB (complement component 1, q subcomponent, B chain) is a protein-coding gene. Diseases associated with C1QB include cervical adenitis, and glomerulonephritis, and among its related super-pathways are Complement Pathway and Complement and Coagulation Cascades. GO annotations related to this gene include protein binding and protein homodimerization activity. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: C1QB_HUMAN, P02746
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NT_004610.19  NC_018912.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1QB gene promoter:
         AhR   Pax-5   AML1a   E47   c-Ets-1   C/EBPalpha   Arnt   HEN1   AREB6   IRF-7A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC1QB promoter sequence
   Search SABiosciences Chromatin IP Primers for C1QB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1QB


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36.12   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.3-p34.1

C1QB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QB gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P022979:  view genomic region     (about GC identifiers)

Start:
22,979,255 bp from pter      End:
22,988,031 bp from pter
Size:
8,777 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C1QB_HUMAN, P02746 (See protein sequence)
Recommended Name: Complement C1q subcomponent subunit B precursor  
Size: 253 amino acids; 26722 Da
Subunit: 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
Subcellular location: Secreted
5 PDB 3D structures from and Proteopedia for C1QB:
1PK6 (3D)        2JG8 (3D)        2JG9 (3D)        2WNU (3D)        2WNV (3D)    
Secondary accessions: Q5T959 Q96H17

Explore the universe of human proteins at neXtProt for C1QB: NX_P02746

Explore proteomics data for C1QB at MOPED 

Post-translational modifications:

  • UniProtKB: 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%
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02746

  • C1QB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1QB Protein Expression
    REFSEQ proteins: NP_000482.3  
    ENSEMBL proteins: 
     ENSP00000426317   ENSP00000423689   ENSP00000404606   ENSP00000313967  
    Reactome Protein details: P02746
    Human Recombinant Protein Products for C1QB: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005602complement component C1 complex TAS1706597

    C1QB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    complement: Complement system

    3 InterPro protein domains:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry P02746

    ProtoNet protein and cluster: P02746

    3 Blocks protein domains:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: C1QB_HUMAN, P02746
    Similarity: Contains 1 C1q domain
    Similarity: Contains 2 collagen-like domains


    C1QB for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: C1QB_HUMAN, P02746
    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 entry for C1QB:
    complement component 1,q subcomponent,beta polypeptide (2.5kb),classical pathway of C3 activation,see C1Q@

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI12960167
    GO:0042803protein homodimerization activity IEA--
         
    C1QB for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for C1qb (no phenotypes)

    C1QB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out C1qbtm1(KOMP)Vlcg for C1QB

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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for C1QB About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Classical Complement Pathway
    Classical Complement Pathway0.75
    Complement Activation, Classical Pathway0.68
    Complement Pathway0.75
    Complement Activation Pathways0.31
    2Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    3Immune response Lectin induced complement pathway
    Immune response Classic complement pathway0.53
    Immune response Classical complement pathway0.52
    4Classical antibody-mediated complement activation
    Classical antibody-mediated complement activation0.88
    Initial triggering of complement0.86
    Creation of C4 and C2 activators0.88
    Complement cascade0.76
    5Immune System
    Immune System0.56
    Innate Immune System0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for C1QB
        Immune response Classic complement pathway

    2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for C1QB
        Classical Complement Pathway
    Complement Pathway

    1 GeneGo (Thomson Reuters) Pathway for C1QB
        Immune response Classical complement pathway

    3 BioSystems Pathways for C1QB
        Complement Activation, Classical Pathway
    Spinal Cord Injury
    Complement and Coagulation Cascades

    1 Sino Biological Pathway for C1QB 
        Complement Activation Pathways

    5/6        Reactome Pathways for C1QB (see all 6)
        Classical antibody-mediated complement activation
    Creation of C4 and C2 activators
    Complement cascade
    Immune System
    Initial triggering of complement


    5/6         Kegg Pathways  (Kegg details for C1QB) (see all 6):
        Complement and coagulation cascades
    Prion diseases
    Pertussis
    Chagas disease (American trypanosomiasis)
    Staphylococcus aureus infection


    C1QB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C1QB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/23 Interacting proteins for C1QB (P027461, 2, 3 ENSP000003139674) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1QAP027451, 2, 3, ENSP000003637734EBI-2813376,EBI-1220209 MINT-8040663 I2D: score=1 STRING: ENSP00000363773
    DEFA1P596653, ENSP000003721264I2D: score=1 STRING: ENSP00000372126
    C1QCP027472, 3, ENSP000003637684MINT-8040663 I2D: score=1 STRING: ENSP00000363768
    HRGP041963, ENSP000002320034I2D: score=2 STRING: ENSP00000232003
    DEFA1BP596653I2D: score=1 
    About this table

    Gene Ontology (GO): 4 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway TAS--
    GO:0045087innate immune response TAS--
    GO:0048839inner ear development IEA--

    C1QB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C1QB

    1 HMDB Compound for C1QB    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/18 DrugBank Compounds for C1QB (see all 18)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Abciximab7E3 (see all 4)143653-53-6target--17016423 17139284
    Adalimumab-- 331731-18-1target--17016423 17139284
    Alefacept-- 222535-22-0target--17139284 17016423
    Alemtuzumab-- 216503-57-0target--17016423 17139284
    Basiliximabchimeric mouse-human antiCD25 (see all 2)152923-56-3target--17016423 17139284
    BevacizumabantiVEGF (see all 3)216974-75-3target--17139284 17016423
    CetuximabAnti EGFR (see all 2)205923-56-4target--17139284 17016423
    DaclizumabAnti-IL-2 (see all 3)152923-56-3target--17139284 17016423
    Efalizumabanti alphaL integrin (see all 4)214745-43-4target--17139284 17016423
    EtanerceptCD120b (see all 7)185243-69-0target--17139284 17016423

    Search CenterWatch for drugs/clinical trials and news about C1QB

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C1QB gene: 
    NM_000491.3  

    Unigene Cluster for C1QB:

    Complement component 1, q subcomponent, B chain
    Hs.8986  [show with all ESTs]
    Unigene Representative Sequence: BQ881988
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000510260 ENST00000509305 ENST00000432749 ENST00000314933(uc001bgd.3)


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    Additional mRNA sequence: 

    BC008983.1 X03084.1 

    6 DOTS entries:

    DT.100810190  DT.95150289  DT.100802966  DT.92424223  DT.95150295  DT.100646233 

    24/258 AceView cDNA sequences (see all 258):

    BQ709128 BM826724 BI834172 BI835876 AA369611 BI824711 BQ709514 BQ711700 
    BQ709805 BM685466 BF437726 BQ109536 BM069799 BM773507 BM705339 BI836616 
    BQ710732 BM769734 CR603615 BX344158 BQ186733 BQ706375 BM820258 CA393597 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for C1QB    About this scheme

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


    ECgene alternative splicing isoforms for C1QB

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C1QB expression in normal human tissues (normalized intensities)      C1QB embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGGGTGCCA
    C1QB Expression
    About this image


    C1QB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 3 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
             Peripheral Blood Immature Myeloid Dendritic Cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Myoblasts Mandibular Arch Muscles
     
     Lung (Respiratory System)
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme
     
     Eye (Sensory Organs)
             Adult Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

    See C1QB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1QB

    SOURCE GeneReport for Unigene cluster: Hs.8986
        SABiosciences Custom PCR Arrays for C1QB
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QB

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C1QB gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qb1 , 5 complement component 1, q subcomponent, beta polypeptide1, 5 78.88(n)1
    80.08(a)1
      4 (69.05 cM)5
    122601  NM_009777.21  NP_033907.11 
     1368801295 
    chicken
    (Gallus gallus)
    Aves C1QB1 complement component 1, q subcomponent, B chain 63.88(n)
    56.9(a)
      428197  XM_425756.3  XP_425756.2 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.244212 Xenopus laevis transcribed sequence with weak similarity more 71.06(n)    CB197048.2 
    zebrafish
    (Danio rerio)
    Actinopterygii c1qb6
    complement component 1, q subcomponent, B chain
    33(a)
    1 ↔ 1
    21(21827289-21830279)


    ENSEMBL Gene Tree for C1QB (if available)
    TreeFam Gene Tree for C1QB (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1QB gene
    C1QTNF62  COL10A12  C1QTNF12  C1QTNF9B2  C1QA2  C1QTNF42  COL8A22  C1QTNF92  
    C1QTNF52  COL8A12  OTOL12  C1QTNF82  C1QTNF72  C1QC2  C1QTNF22  ADIPOQ2  
    13 SIMAP similar genes for C1QB using alignment to 5 protein entries:     C1QB_HUMAN (see all proteins):
    C1QC    C1QA    ADIPOQ    COL1A1    COL4A6    C1QTNF2
    COL13A1    COL10A1    C1QL2    C1QTNF7    COL8A2    C1QTNF9
    OTOL1

    C1QB for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/278 SNPs in C1QB are shown (see all 278)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0085414
    Complement component C1q deficiency (C1QD)4--see VAR_0085412 G D mis40--------
    VAR_0355514
    A breast cancer sample4--see VAR_0355512 A T mis40--------
    rs597935941,2
    C--22985428(+) ATGGA-/TGGA  
            
    GAGGA
    1 -- int10--------
    rs569178551,2
    C--22985785(+) GGATG-/GATG/ 
    GATGGATG
    CAGAT
    1 -- int11CSA 2
    rs717744781,2
    C--22985786(+) AGAGA-/GATG  
            
    GATGG
    1 -- int10--------
    rs1885417651,2
    C--23190203(+) AAGAGA/CTGGGA 1 -- us2k10--------
    rs349646101,2
    C,F--23190227(+) AGTCCG/ATGCTC 1 -- us2k12Minor allele frequency- A:0.04NA 122
    rs115830211,2
    C,F,H--23190239(+) TAACCC/GACCTC 1 -- us2k18Minor allele frequency- G:0.02NS EA NA WA 662
    rs127348771,2
    C,F,H--23190283(+) CCCCAA/CATTGA 1 -- us2k131Minor allele frequency- C:0.46NA NS EA WA CSA 2906
    rs2919911,2
    C,A,H--23190424(-) GGCCGC/GTCTCA 1 -- us2k11Minor allele frequency- G:0.00WA 2

    HapMap Linkage Disequilibrium report for C1QB (22979255 - 22988031 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for C1QB:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2745241CNV Deletion23290073
    esv1510090CNV Deletion17803354
    esv2745253CNV Deletion23290073
    esv2745264CNV Deletion23290073
    esv2745230CNV Deletion23290073
    esv2742989CNV Deletion23290073
    nsv871044CNV Loss21882294
    esv34161CNV Loss18971310


    Human Gene Mutation Database (HGMD): C1QB

    Locus Specific Mutation Databases (LSDB): C1QB
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QB
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QB

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120570    OMIM disorders: --

    UniProtKB/Swiss-Prot: C1QB_HUMAN, P02746
  • 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. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 20/23 diseases for C1QB (see all 23):    About MalaCards
    cervical adenitis    glomerulonephritis    duchenne muscular dystrophy    trypanosomiasis
    prion disease    chagas disease    lupus erythematosus    pertussis
    polyneuropathy    systemic lupus erythematosus    muscular dystrophy    hodgkin's lymphoma
    non-hodgkin lymphoma    amyotrophic lateral sclerosis    lateral sclerosis    meningioma
    hepatitis b    cervicitis    hepatitis    melanoma


    C1QB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genatlas disease: C1QB
    glomerulonephritis,lupus systemic syndrome

    Genetic Association Database (GAD): C1QB
    Human Genome Epidemiology (HuGE) Navigator: C1QB (13 documents)

    Export disorders for C1QB gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C1QB gene, integrated from 9 sources (see all 72):
    (articles sorted by number of sources associating them with C1QB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    2. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    3. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PubMed id 20528885)1, 4 Rafiq S....Eggleton P. (2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    5. Risk of non-Hodgkin lymphoma in association with germline variation in complement genes. (PubMed id 19344414)1, 4 Cerhan J.R....Slager S.L. (2009)
    6. Complement C1Q polymorphisms modulate onset in famili al amyloidotic polyneuropathy TTR Val30Met. (PubMed id 19493541)1, 4 Dardiotis E....Kyriakides T. (2009)
    7. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PubMed id 18174230)1, 4 Miyagawa H....Horiuchi T. (2008)
    8. PCR-RFLP genotyping of C1q mutations and single nucleotide polymorphisms in Malaysian patients with systemic lupus erythematosus. (PubMed id 18505047)1, 4 Chew C.H....Tan S.Y. (2008)
    9. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 713 HGNC: 1242 AceView: C1QB Ensembl:ENSG00000173369 euGenes: HUgn713
    ECgene: C1QB Kegg: 713 H-InvDB: C1QB

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C1QB Pharmacogenomics, SNPs, Pathways
    C1QBbasehttp://bioinf.uta.fi/C1QBbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C1QB gene:
    Search GeneIP for patents involving C1QB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

     
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