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

C1QC Gene

protein-coding   GIFtS: 61
GCID: GC01P022970

Complement Component 1, Q Subcomponent, C Chain

(Previous names: complement component 1, q subcomponent, gamma polypeptide)
(Previous symbol: C1QG)
  See related diseases
at  

(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, C Chain1 2
C1QG1 2 3 5
Complement Component 1, Q Subcomponent, Gamma Polypeptide1 2
C1Q-C2
Complement C1q Subcomponent Subunit C2

External Ids:    HGNC: 12451   Entrez Gene: 7142   Ensembl: ENSG000001591897   OMIM: 1205755   UniProtKB: P027473   

Export aliases for C1QC gene to outside databases

Previous GC identifers: GC01P022842 GC01P021214


(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 C1QC 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. A deficiency in 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
C-chain polypeptide of human complement subcomponent C1q. Alternatively spliced transcript variants that encode
the same protein have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for C1QC Gene: 
C1QC (complement component 1, q subcomponent, C chain) is a protein-coding gene. Diseases associated with C1QC include chronic wasting disease, and glomerulonephritis, and among its related super-pathways are Complement and Coagulation Cascades and Immune response Lectin induced complement pathway. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747
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 C1QC gene promoter:
         AhR   AML1a   NRSF form 1   NRSF form 2   Arnt   HEN1   POU2F1   POU2F1a   POU2F1b   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidC1QC promoter sequence
   Search SABiosciences Chromatin IP Primers for C1QC

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1QC


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

Entrez Gene cytogenetic band: 1p36.11   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.11

C1QC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QC gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P022970:  view genomic region     (about GC identifiers)

Start:
22,970,118 bp from pter      End:
22,974,603 bp from pter
Size:
4,486 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: C1QC_HUMAN, P02747 (See protein sequence)
Recommended Name: Complement C1q subcomponent subunit C precursor  
Size: 245 amino acids; 25774 Da
Subunit: C1 is a calcium-dependent trimolecular complex of C1q, R and S 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 C1QC:
1PK6 (3D)        2JG8 (3D)        2JG9 (3D)        2WNU (3D)        2WNV (3D)    
Secondary accessions: Q7Z502 Q96DL2 Q96H05

Explore the universe of human proteins at neXtProt for C1QC: NX_P02747

Explore proteomics data for C1QC at MOPED 

Post-translational modifications:

  • UniProtKB: O-linked glycans consist of Glc-Gal disaccharides bound to the oxygen atom of post-translationally added hydroxyl
    groups
  • View neXtProt modification sites for NX_P02747

  • C1QC Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1QC Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001107573.1  NP_758957.2  

    ENSEMBL proteins: 
     ENSP00000363771   ENSP00000363770   ENSP00000363768  
    Reactome Protein details: P02747
    Human Recombinant Protein Products for C1QC: 
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    Novus Biologicals C1QC Protein
    Novus Biologicals C1QC Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--

    C1QC 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 P02747

    ProtoNet protein and cluster: P02747

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


    UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain


    C1QC 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: C1QC_HUMAN, P02747
    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

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C1QC for ontologies           About GeneDecksing


    Animal Models:
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    SwitchGear 3'UTR luciferase reporter plasmidC1QC 3' UTR sequence
    Inhib. RNA
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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 C1QC About   (see all 10)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Complement and coagulation cascades
    Complement and Coagulation Cascades0.71
    Complement and coagulation cascades0.71
    2Immune response Lectin induced complement pathway
    Immune response Classic complement pathway0.53
    Immune response Classical complement pathway0.52
    3Classical 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
    4Immune System
    Immune System0.56
    Innate Immune System0.50
    5Classical Complement Pathway
    Complement Activation, Classical Pathway0.68

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for C1QC
        Immune response Classic complement pathway


    1 GeneGo (Thomson Reuters) Pathway for C1QC
        Immune response Classical complement pathway

    2 BioSystems Pathways for C1QC
        Complement Activation, Classical Pathway
    Complement and Coagulation Cascades

    5/6        Reactome Pathways for C1QC (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 C1QC) (see all 6):
        Complement and coagulation cascades
    Prion diseases
    Pertussis
    Chagas disease (American trypanosomiasis)
    Staphylococcus aureus infection


    C1QC for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1QC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    5/18 Interacting proteins for C1QC (P027472, 3 ENSP000003637684) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C1QBP027462, 3, ENSP000003139674MINT-8040663 I2D: score=1 STRING: ENSP00000313967
    C1QAP027452, 3, ENSP000003637734MINT-8040663 I2D: score=1 STRING: ENSP00000363773
    FKBP2P268853, ENSP000003109354I2D: score=1 STRING: ENSP00000310935
    PTX3P260223, ENSP000002959274I2D: score=2 STRING: ENSP00000295927
    APOA1P026473, ENSP000002368504I2D: score=1 STRING: ENSP00000236850
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006955immune response NAS9777412
    GO:0006956complement activation TAS--
    GO:0006958complement activation, classical pathway TAS--
    GO:0030853negative regulation of granulocyte differentiation IDA10961870
    GO:0045087innate immune response TAS--

    C1QC 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 C1QC

    1 HMDB Compound for C1QC    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    10/18 DrugBank Compounds for C1QC (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 C1QC

    (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 C1QC gene (2 alternative transcripts): 
    NM_001114101.1  NM_172369.3  

    Unigene Cluster for C1QC:

    Complement component 1, q subcomponent, C chain
    Hs.467753  [show with all ESTs]
    Unigene Representative Sequence: BQ711804
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374640(uc001bgc.4) ENST00000374639(uc001bga.4) ENST00000374637

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    hsa-miR-4254 hsa-miR-765 hsa-miR-3175
    SwitchGear 3'UTR luciferase reporter plasmidC1QC 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF087892.1 AK057792.1 AK130613.1 BC009016.1 

    15 DOTS entries:

    DT.95272435  DT.100833269  DT.92431893  DT.100839328  DT.100038193  DT.101982245  DT.121388766  DT.100038191 
    DT.100828744  DT.100828749  DT.95272436  DT.100828743  DT.121388793  DT.100828747  DT.100697109 

    24/507 AceView cDNA sequences (see all 507):

    CA406370 R17629 BX337443 BX111339 BQ712171 BM717026 CR623532 CD367233 
    AA025953 CR604785 BM713106 BI764061 CD108412 BI835225 CD368327 BU730331 
    BU732984 BM694149 BI835236 BI824570 CD742606 BC071986 BI838362 CR613096 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C1QC    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2 ^ 3 ^ 4a · 4b
    SP1:                    -     -                           
    SP2:                    -     -     -     -               
    SP3:                                                      
    SP4:                          -                           
    SP5:                                                      


    ECgene alternative splicing isoforms for C1QC

    (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

    C1QC expression in normal human tissues (normalized intensities)      C1QC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAATCAATAC
    C1QC Expression
    About this image


    C1QC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/9 selected tissues (see all 9) fully expand
     
     Blood (Cardiovascular System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Aorta-Gonad-Mesonephros
             Bone Marrow CD133+ Cells   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Lung (Respiratory System)
             Human Pulmonary Alveolar Epithelial Cells (HPAEpiC)   
     
     Endothelium (Cardiovascular System)
             Peripheral blood-derived early endothelial progenitor cells
     
     Kidney (Urinary System)
             Metanephric Mesenchyme Cells Metanephric Mesenchyme

    See C1QC Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1QC

    SOURCE GeneReport for Unigene cluster: Hs.467753
        SABiosciences Custom PCR Arrays for C1QC
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QC

    (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 C1QC gene from 3/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qc1 , 5 complement component 1, q subcomponent, C chain1, 5 77.96(n)1
    74.29(a)1
      4 (69.05 cM)5
    122621  NM_007574.21  NP_031600.21 
     1368898045 
    chicken
    (Gallus gallus)
    Aves C1QC1 complement component 1, q subcomponent, C chain 62.99(n)
    59.32(a)
      419503  XM_417653.2  XP_417653.1 
    zebrafish
    (Danio rerio)
    Actinopterygii c1qc1 complement component 1, q subcomponent, C chain 53.53(n)
    50.48(a)
      449803  NM_001005976.1  NP_001005976.1 


    ENSEMBL Gene Tree for C1QC (if available)
    TreeFam Gene Tree for C1QC (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1QC gene
    C1QTNF62  COL10A12  C1QB2  C1QTNF12  C1QTNF9B2  C1QA2  C1QTNF42  COL8A22  
    C1QTNF92  C1QTNF52  COL8A12  OTOL12  C1QTNF82  C1QTNF72  C1QTNF22  ADIPOQ2  
    11 SIMAP similar genes for C1QC using alignment to 1 protein entry:     C1QC_HUMAN:
    C1QB    COL4A5    ADIPOQ    C1QA    C1QTNF5    C1QL4
    C1QTNF2    C1QTNF9    C1QTNF9B    OTOL1    C1QL2

    C1QC 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

    10/197 SNPs in C1QC are shown (see all 197)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0085424
    Complement component C1q deficiency (C1QD)4--see VAR_0085422 G R mis40--------
    rs1389729861,2
    C--21214232(+) TTTAT-/ACAC  
            
    ACACA
    2 -- us2k10--------
    rs1470105261,2
    C--21215156(+) GCTTG-/CCTTGC 2 -- int10--------
    rs716602541,2
    C--22969874(+) TTTAT-/ACACACA 2 -- us2k11Minor allele frequency- AC:0.50CSA 2
    rs106011441,2
    C--22974534(+) CATTC-/T/TT  
            
    TTTTT
    4 -- ut310--------
    rs710204411,2
    C--22974534(+) CATTC-/T/T   
       T
    /TTT
    TTTTT
    6 -- ut311NA 2
    rs2941801,2
    C,F,O,A,H--22974794(-) GGACCT/GCTGGC 2 -- ds500125Minor allele frequency- G:0.40MN NA NS EA WA CSA 1528
    rs740605491,2
    C,F--22974867(+) AAGCCC/TACAGG 2 -- ds50012Minor allele frequency- T:0.04WA 120
    rs2941791,2
    C,F,O,A,H--22974928(-) CCCATG/AGTAAA 2 -- ds500126Minor allele frequency- A:0.31MN NS EA NA WA CSA 2670
    rs1156911271,2
    F--22974946(+) TGGGCT/CTGGGT 2 -- ds50011Minor allele frequency- C:0.03WA 118

    HapMap Linkage Disequilibrium report for C1QC (22970118 - 22974603 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C1QC:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv871044CNV Loss21882294
    esv34161CNV Loss18971310


    Human Gene Mutation Database (HGMD): C1QC

    Locus Specific Mutation Databases (LSDB): C1QC
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QC
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QC

    (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: 120575    OMIM disorders: --

    UniProtKB/Swiss-Prot: C1QC_HUMAN, P02747
  • 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

  • 17 diseases for C1QC:    About MalaCards
    chronic wasting disease    glomerulonephritis    trypanosomiasis    duchenne muscular dystrophy
    prion disease    chagas disease    lupus erythematosus    pertussis
    polyneuropathy    systemic lupus erythematosus    non-hodgkin lymphoma    hodgkin's lymphoma
    muscular dystrophy    meningioma    hepatitis b    hepatitis
    leukemia


    C1QC for disorders           About GeneDecksing

    Genetic Association Database (GAD): C1QC
    Human Genome Epidemiology (HuGE) Navigator: C1QC (14 documents)

    Export disorders for C1QC 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 C1QC gene, integrated from 9 sources (see all 66):
    (articles sorted by number of sources associating them with C1QC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and organization of the genes encoding the A-, B- and C-chains of human complement subcomponent C1q. The complete derived amino acid sequence of human C1q. (PubMed id 1706597)1, 2, 3 Sellar G.C.... Reid K.B.M. (1991)
    2. Risk of meningioma and common variation in genes rela ted to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (2010)
    3. Polymorphisms in innate immunity genes and risk of ch ildhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (2010)
    4. Assessing association of common variation in the C1Q gene cluster with systemic lupus erythematosus. (PubMed id 20528885)1, 4 Rafiq S....Eggleton P. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. 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)
    7. Complement C1Q polymorphisms modulate onset in famili al amyloidotic polyneuropathy TTR Val30Met. (PubMed id 19493541)1, 4 Dardiotis E....Kyriakides T. (2009)
    8. Association of polymorphisms in complement component C3 gene with susceptibility to systemic lupus erythematosus. (PubMed id 18174230)1, 4 Miyagawa H....Horiuchi T. (2008)
    9. 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)
    10. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (2006)

    (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: 714 HGNC: 1245 AceView: C1QAandC1QG Ensembl:ENSG00000159189 euGenes: HUgn714
    ECgene: C1QC Kegg: 714 H-InvDB: C1QC

    (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 C1QC Pharmacogenomics, SNPs, Pathways
    C1QGbasehttp://bioinf.uta.fi/C1QGbase/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for C1QC gene:
    Search GeneIP for patents involving C1QC

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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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