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C1QTNF6 Gene

protein-coding   GIFtS: 53
GCID: GC22M037576

C1q And Tumor Necrosis Factor Related Protein 6

  Search for C1QTNF6
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
C1q And Tumor Necrosis Factor Related Protein 61 2
CTRP62 3
CTFP62 5
ZACRP62
Complement C1q Tumor Necrosis Factor-Related Protein 62
Complement-C1q Tumor Necrosis Factor-Related Protein 62

External Ids:    HGNC: 143431   Entrez Gene: 1149042   Ensembl: ENSG000001334667   OMIM: 6149105   UniProtKB: Q9BXI93   

Export aliases for C1QTNF6 gene to outside databases

Previous GC identifers: GC22M034190 GC22M035819 GC22M035900 GC22M020541


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for C1QTNF6 Gene:
C1QTNF6 (C1q and tumor necrosis factor related protein 6) is a protein-coding gene. GO annotations related to this gene include identical protein binding. An important paralog of this gene is C1QTNF4.


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000022.10  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the C1QTNF6 gene promoter:
         AhR   AML1a   Tal-1   COUP   HNF-4alpha1   E47   AREB6   PPAR-gamma1   COUP-TF   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): C1QTNF6 promoter sequence
   Search Chromatin IP Primers for C1QTNF6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat C1QTNF6


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

Entrez Gene cytogenetic band: 22q13.1   Ensembl cytogenetic band:  22q12.3   HGNC cytogenetic band: 22q13.1

C1QTNF6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QTNF6 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22M037576:  view genomic region     (about GC identifiers)

Start:
37,576,206 bp from pter      End:
37,595,425 bp from pter
Size:
19,220 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: C1QT6_HUMAN, Q9BXI9 (See protein sequence)
Recommended Name: Complement C1q tumor necrosis factor-related protein 6 precursor  
Size: 259 amino acids; 28669 Da
Secondary accessions: Q5H9G8 Q6ZRM7
Alternative splicing: 3 isoforms:  Q9BXI9-1   Q9BXI9-2   Q9BXI9-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for C1QTNF6: NX_Q9BXI9

Explore proteomics data for C1QTNF6 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn72

  • See C1QTNF6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_114116.3  NP_872292.1  

    ENSEMBL proteins: 
     ENSP00000380299   ENSP00000338812   ENSP00000399243   ENSP00000255836  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry Q9BXI9

    ProtoNet protein and cluster: Q9BXI9

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


    UniProtKB/Swiss-Prot: C1QT6_HUMAN, Q9BXI9
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain


    Find genes that share domains with C1QTNF6           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
    GO:0042802identical protein binding IEA--
         
    Find genes that share ontologies with C1QTNF6           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for C1qtnf6 (no phenotypes)

    Find genes that share phenotypes with C1QTNF6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out C1qtnf6tm1Lex for C1QTNF6

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for C1QTNF6
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for C1QTNF6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for C1QTNF6

    miRNA
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    miRTarBase miRNAs that target C1QTNF6:
    hsa-mir-29a-3p (MIRT006873)

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    4 qRT-PCR Assays for microRNAs that regulate C1QTNF6:
    hsa-miR-29c hsa-miR-29a hsa-miR-518f* hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidC1QTNF6 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QTNF6


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    C1QT6_HUMAN, Q9BXI9: Secreted (Probable)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    plasma membrane2
    cytosol1
    endoplasmic reticulum1
    lysosome1
    mitochondrion1
    nucleus1
    peroxisome1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--
    GO:0005615extracellular space IEA--

    Find genes that share ontologies with C1QTNF6           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C1QTNF6
    Interactions:

        Search GeneGlobe Interaction Network for C1QTNF6

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0051259protein oligomerization ----
    GO:0070208protein heterotrimerization IEA--

    Find genes that share ontologies with C1QTNF6           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for C1QTNF6 (C1QT6)



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for C1QTNF6 gene (2 alternative transcripts): 
    NM_031910.3  NM_182486.1  

    Unigene Cluster for C1QTNF6:

    C1q and tumor necrosis factor related protein 6
    Hs.22011  [show with all ESTs]
    Unigene Representative Sequence: AK128125
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000397110 ENST00000337843(uc003aqy.1) ENST00000470655(uc003aqx.1 uc003aqz.1)
    ENST00000493023(uc003aqw.1) ENST00000434784 ENST00000467564 ENST00000497071
    ENST00000255836
    miRNA
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    Block miRNA regulation of human, mouse, rat C1QTNF6 using miScript Target Protectors
    4 qRT-PCR Assays for microRNAs that regulate C1QTNF6:
    hsa-miR-29c hsa-miR-29a hsa-miR-518f* hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidC1QTNF6 3' UTR sequence
    Inhib. RNA
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    OriGene qPCR primer pairs and template standards for C1QTNF6
    OriGene qSTAR qPCR primer pairs in human, mouse for C1QTNF6
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat C1QTNF6
      QuantiTect SYBR Green Assays in human, mouse, rat C1QTNF6
      QuantiFast Probe-based Assays in human, mouse, rat C1QTNF6

    Additional mRNA sequence: 

    AF329842.1 AK128125.1 AK226149.1 AK314060.1 AY358374.1 BC020551.1 CR456451.1 

    14 DOTS entries:

    DT.100024856  DT.101983032  DT.95240284  DT.112891  DT.40271019  DT.120651758  DT.95266621  DT.100685640 
    DT.100697885  DT.100782159  DT.400774  DT.91695341  DT.100782157  DT.120651739 

    Selected AceView cDNA sequences (see all 209):

    BQ053622 AY358374 BU857654 BQ053441 BM549427 AI968918 H55712 CR607090 
    CR456506 CR608415 BF223041 BX378224 BQ712725 BQ707555 BX339049 H55257 
    AK128125 T28565 M26062 AI989994 CD633231 CR606760 BC025691 BQ008149 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for C1QTNF6    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b · 5c · 5d · 5e ^ 6
    SP1:                                -     -                             -         
    SP2:                                -                                             
    SP3:        -     -                 -     -                                       
    SP4:                                                                              
    SP5:                                -     -     -                                 


    ECgene alternative splicing isoforms for C1QTNF6

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    C1QTNF6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ATTAAAGAAT
    C1QTNF6 Expression
    About this image


    C1QTNF6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Placenta (Extraembryonic Tissues)
    C1QTNF6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    C1QTNF6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.22011
        Custom PCR Arrays for C1QTNF6
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for C1QTNF6 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qtnf61 , 5 C1q and tumor necrosis factor related protein 61, 5 75.8(n)1
    69.5(a)1
      15 (37.55 cM)5
    727091  NM_028331.51  NP_082607.31 
     785233465 
    chicken
    (Gallus gallus)
    Aves C1QTNF61 C1q and tumor necrosis factor related protein 6 63.99(n)
    58.63(a)
      427908  XM_004937750.1  XP_004937807.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    55(a)
    1 → many
    5(22810719-22820350)
    zebrafish
    (Danio rerio)
    Actinopterygii c1qtnf6a1 C1q and tumor necrosis factor related protein 6a 64.36(n)
    58.99(a)
      565113  XM_688410.6  XP_693502.3 


    ENSEMBL Gene Tree for C1QTNF6 (if available)
    TreeFam Gene Tree for C1QTNF6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for C1QTNF6 gene
    C1QTNF42  COL8A22  C1QTNF92  C1QTNF52  OTOL12  COL10A12  C1QB2  C1QTNF12  
    C1QTNF9B2  C1QA2  COL8A12  C1QTNF82  C1QTNF72  C1QTNF22  C1QC2  ADIPOQ2  
    5 SIMAP similar genes for C1QTNF6 using alignment to 2 protein entries:     C1QT6_HUMAN (see all proteins):
    dJ151B14.4    C1QTNF8    C1QTNF1    COL8A2    ADIPOQ

    Find genes that share paralogs with C1QTNF6           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for C1QTNF6 (see all 295)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1180987851,2
    C,F--37575803(+) TTAAAC/TGCAAA 2 -- ds50011Minor allele frequency- T:0.03NA 120
    rs1395177281,2
    C--37575804(+) TAAACA/GCAAAA 2 -- ds50010--------
    rs1925746131,2
    C--37575831(+) CGGGGC/TGGGAG 2 -- ds50010--------
    rs1497056621,2
    --37575845(+) GGGGGA/GCTTGC 2 -- ds50010--------
    rs734088701,2
    C,F--37575850(+) GCTTGC/TGTGTG 2 -- ds50013Minor allele frequency- T:0.08WA CSA 121
    rs1847879561,2
    --37575928(+) GAGCAG/TGAACG 2 -- ds50010--------
    rs96074211,2
    C,F,A,H--37575931(+) CATGAA/GCGCGG 2 -- ds500118Minor allele frequency- G:0.28NS EA NA WA 2342
    rs1455083351,2
    --37575935(+) AACGCA/GGCACT 2 -- ds50010--------
    rs1484125931,2
    --37575957(+) CTGGCA/GTCTGA 2 -- ds50010--------
    rs48215951,2
    C,F,A,H--37575977(+) CCACCG/ACATGA 2 -- ds500116Minor allele frequency- A:0.11NS EA NA WA 2136

    HapMap Linkage Disequilibrium report for C1QTNF6 (37576206 - 37595425 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for C1QTNF6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv915020CNV Loss21882294
    esv34015CNV Loss18971310
    nsv829203CNV Loss20364138
    nsv915019CNV Loss21882294
    nsv915018CNV Loss21882294

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QTNF6
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QTNF6

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614910    OMIM disorders: --


    Find genes that share disorders with C1QTNF6           About GenesLikeMe

    Genetic Association Database (GAD): C1QTNF6
    Human Genome Epidemiology (HuGE) Navigator: C1QTNF6 (5 documents)

    Export disorders for C1QTNF6 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)
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    PubMed articles for C1QTNF6 gene, integrated from 10 sources (see all 17):
    (articles sorted by number of sources associating them with C1QTNF6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2, 3 Clark H.F.... Gray A.M. (Genome Res. 2003)
    2. Novel associations for hypothyroidism include known autoimmune risk loci. (PubMed id 22493691)1, 4 Eriksson N....Do C.B. (PLoS ONE 2012)
    3. Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (Hum. Hered. 2010)
    4. Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. (PubMed id 20410501)1, 4 Jin Y....Spritz R.A. (N. Engl. J. Med. 2010)
    5. Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. (PubMed id 19430480)1, 4 Barrett J.C....Rich S.S. (Nat. Genet. 2009)
    6. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. (PubMed id 18978792)1, 4 Cooper J.D....Todd J.A. (Nat. Genet. 2008)
    7. Shared and distinct genetic variants in type 1 diabetes and celiac disease. (PubMed id 19073967)1, 4 Smyth D.J....Todd J.A. (N. Engl. J. Med. 2008)
    8. 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. (Genome Res. 2004)
    9. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 2004)
    10. Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. (PubMed id 23612905)1 Zhao S.X....Song H.D. (Hum. Mol. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114904 HGNC: 14343 AceView: IL2RBandC1QTNF6 Ensembl:ENSG00000133466 euGenes: HUgn114904
    ECgene: C1QTNF6 H-InvDB: C1QTNF6

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for C1QTNF6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C1QTNF6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1QTNF6 gene:
    Search GeneIP for patents involving C1QTNF6

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