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

C1QTNF6 Gene

protein-coding   GIFtS: 52
GCID: GC22M037576

C1q And Tumor Necrosis Factor Related Protein 6

  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
C1q And Tumor Necrosis Factor Related Protein 61 2
CTRP62 3
CTFP62
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for C1QTNF6 Gene: 
C1QTNF6 (C1q and tumor necrosis factor related protein 6) is a protein-coding gene. Diseases associated with C1QTNF6 include vitiligo, and celiac disease. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for C1QTNF6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: C1QT6_HUMAN, Q9BXI9 (See protein sequence)
Recommended Name: Complement C1q tumor necrosis factor-related protein 6 precursor  
Size: 259 amino acids; 28669 Da
Subcellular location: Secreted (Probable)
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 

C1QTNF6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

C1QTNF6 Protein Expression

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

ENSEMBL proteins: 
 ENSP00000380299   ENSP00000338812   ENSP00000399243   ENSP00000255836  

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Cloud-Clone Corp. Proteins for C1QTNF6 

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

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

C1QTNF6 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
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


C1QTNF6 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

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

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
GO:0042802identical protein binding IEA--
     
C1QTNF6 for ontologies           About GeneDecksing


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

C1QTNF6 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out C1qtnf6tm1Lex for C1QTNF6

   inGenious Targeting Laboratory - Custom generated mouse model solutions for C1QTNF6 
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SwitchGear 3'UTR luciferase reporter plasmidC1QTNF6 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




Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1QTNF6

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

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

C1QTNF6 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 C1QTNF6 (C1QT6)

Search CenterWatch for drugs/clinical trials and news about 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,
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 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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SwitchGear 3'UTR luciferase reporter plasmidC1QTNF6 3' UTR sequence
Inhib. RNA
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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 

24/209 AceView cDNA sequences (see all 209):

AK128125 BU535692 AI968918 CR608415 AI989994 BC025691 NM_182486 BQ707555 
BX339049 BX378224 H55257 BM549427 H55722 CD633231 AY358374 H55712 
BQ712725 CR622807 BX336597 T28565 H55367 NM_000878 BQ053622 BF223041 

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™, 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

C1QTNF6 expression in normal human tissues (normalized intensities)      C1QTNF6 embryonic expression: see
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 
 5/7 selected tissues (see all 7) fully expand
 
 Placenta (Extraembryonic Tissues)
         placenta   
 
 Heart (Cardiovascular System)
         Human Cardiac Myocytes-adult (HCM-a)   
 
 Liver (Hepatobiliary System)
         Human Hepatic Stellate Cells (HHSteC)   
 
 Neural Tube (Nervous System)
         Rhombencephalon
 
 Eye (Sensory Organs)
         Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium

See C1QTNF6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for C1QTNF6

SOURCE GeneReport for Unigene cluster: Hs.22011
    SABiosciences Custom PCR Arrays for C1QTNF6
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In Situ
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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)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF6 gene from 4/10 species (see all 10)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia C1qtnf65 C1q and tumor necrosis factor related protein 6   --   15 (37.55 cM) 78523346 
chicken
(Gallus gallus)
Aves C1QTNF66
C1QTNF86
Uncharacterized protein
54(a)
46(a)
1 ↔ many
possible ortholog
1(51283694-51289313)
14(5576445-5584515)
lizard
(Anolis carolinensis)
Reptilia C1QTNF86
C1QTNF66
Uncharacterized protein
59(a)
53(a)
possible ortholog
1 ↔ many
GL343263.1(1797713-1803135)
5(22810719-22820350)
zebrafish
(Danio rerio)
Actinopterygii c1qtnf6a6
CABZ01084570.16
Uncharacterized protein
51(a)
49(a)
many ↔ many
many ↔ many
3(25322121-25323822)
6(164068-167270)


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)
About This Section
Paralogs for C1QTNF6 gene
C1QTNF42  COL8A22  C1QTNF92  C1QTNF52  OTOL12  C1QB2  COL10A12  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

C1QTNF6 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

10/295 SNPs in C1QTNF6 are shown (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

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(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: 614910    OMIM disorders: --

7 diseases for C1QTNF6:    About MalaCards
vitiligo    celiac disease    hypothyroidism    type 1 diabetes
hepatocellular carcinoma    prostate cancer    prostatitis


C1QTNF6 for disorders           About GeneDecksing

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)
About This Section

PubMed articles for C1QTNF6 gene, integrated from 9 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. (2003)
  2. Novel associations for hypothyroidism include known au toimmune risk loci. (PubMed id 22493691)1, 4 Eriksson N....Do C.B. (2012)
  3. Genetic susceptibility to type 2 diabetes is associat ed with reduced prostate cancer risk. (PubMed id 20203524)1, 4 Pierce B.L. and Ahsan H. (2010)
  4. Variant of TYR and autoimmunity susceptibility loci i n generalized vitiligo. (PubMed id 20410501)1, 4 Jin Y....Spritz R.A. (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. (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. (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. (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. (2004)
  9. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
  10. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (2002)

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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section
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, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
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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