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    C1QTNF6 C1q and TNF related 6 [ Homo sapiens (human) ]

    Gene ID: 114904, updated on 28-Oct-2024

    Summary

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    Official Symbol
    C1QTNF6provided by HGNC
    Official Full Name
    C1q and TNF related 6provided by HGNC
    Primary source
    HGNC:HGNC:14343
    See related
    Ensembl:ENSG00000133466 MIM:614910; AllianceGenome:HGNC:14343
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CTFP6; CTRP6; ZACRP6
    Summary
    Enables identical protein binding activity. Predicted to be located in extracellular region and membrane. Predicted to be part of collagen trimer. Predicted to be active in extracellular space. [provided by Alliance of Genome Resources, Oct 2024]
    Expression
    Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1QTNF6 in Genome Data Viewer
    Location:
    22q12.3
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (37180166..37199423, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (37640085..37659343, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (37576206..37595463, complement)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124905113 Neighboring gene transmembrane serine protease 6 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37473809-37474310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37476421-37477401 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:37483940-37485139 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37494011-37494516 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37503983-37504484 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18943 Neighboring gene interleukin 2 receptor subunit beta Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18944 Neighboring gene IL2RB promoter Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18945 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18946 Neighboring gene IL2RB LTR promoter Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37575666-37576526 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37576527-37577386 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37583391-37584026 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584027-37584660 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37584661-37585296 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr22:37585297-37585930 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37593748-37594318 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:37594319-37594888 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13681 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18948 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18947 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18949 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37607356-37608335 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13682 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18952 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18951 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18950 Neighboring gene somatostatin receptor 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13683 Neighboring gene ribosomal protein L39 pseudogene 41 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18953 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18954 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37629791-37630292 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37630293-37630792 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37633073-37633751 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37633752-37634430 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18957 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18956 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37638663-37639226 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:37638099-37638662 Neighboring gene Rac family small GTPase 2

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. C1q/TNF-related protein-6 is associated with insulin resistance and the development of diabetes in Chinese population. Wang M, et al. Acta Diabetol, 2018 Dec. PMID 30083983
    2. Circulating levels of C1q/TNF-α-related protein 6 (CTRP6) in polycystic ovary syndrome. Sadeghi A, et al. IUBMB Life, 2020 Jul. PMID 32170998
    3. C1QTNF6 as a Novel Diagnostic and Prognostic Biomarker for Clear Cell Renal Cell Carcinoma. Lin W, et al. DNA Cell Biol, 2020 Jun. PMID 32282241
    4. Knockdown of CTRP6 inhibits high glucose-induced oxidative stress, inflammation and extracellular matrix accumulation in mesangial cells through regulating the Akt/NF-κB pathway. Xu E, et al. Clin Exp Pharmacol Physiol, 2020 Jul. PMID 32077518
    5. C1QTNF6 Overexpression Acts as a Predictor of Poor Prognosis in Bladder Cancer Patients. Zhu X, et al. Biomed Res Int, 2020. PMID 33123583, Free PMC Article

    See all (49) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. CTRP6 alleviates endometrial fibrosis by regulating Smad3 pathway in intrauterine adhesiondagger.
      Title: CTRP6 alleviates endometrial fibrosis by regulating Smad3 pathway in intrauterine adhesion†.
    2. Down regulation of C1q tumor necrosis factor-related protein 6 is associated with increased risk of breast cancer.
      Title: Down regulation of C1q tumor necrosis factor-related protein 6 is associated with increased risk of breast cancer.
    3. CTRP6 protects against ferroptosis to drive lung cancer progression and metastasis by destabilizing SOCS2 and augmenting the xCT/GPX4 pathway.
      Title: CTRP6 protects against ferroptosis to drive lung cancer progression and metastasis by destabilizing SOCS2 and augmenting the xCT/GPX4 pathway.
    4. MiR-29c-3p/C1QTNF6 Restrains the Angiogenesis and Cell Proliferation, Migration and Invasion in Head and Neck Squamous Cell Carcinoma.
      Title: MiR-29c-3p/C1QTNF6 Restrains the Angiogenesis and Cell Proliferation, Migration and Invasion in Head and Neck Squamous Cell Carcinoma.
    5. Potential participation of CTRP6, a complement regulator, in the pathology of age related macular degeneration.
      Title: Potential participation of CTRP6, a complement regulator, in the pathology of age related macular degeneration.
    6. C1q/tumor necrosis factor related protein 6 (CTRP6) regulates the phenotypes of high glucose-induced gestational trophoblast cells via peroxisome proliferator-activated receptor gamma (PPARgamma) signaling.
      Title: C1q/tumor necrosis factor related protein 6 (CTRP6) regulates the phenotypes of high glucose-induced gestational trophoblast cells via peroxisome proliferator-activated receptor gamma (PPARγ) signaling.
    7. Adipocyte factor CTRP6 inhibits homocysteine-induced proliferation, migration, and dedifferentiation of vascular smooth muscle cells through PPARgamma/NLRP3.
      Title: Adipocyte factor CTRP6 inhibits homocysteine-induced proliferation, migration, and dedifferentiation of vascular smooth muscle cells through PPARγ/NLRP3.
    8. C1QTNF6 regulates cell proliferation and apoptosis of NSCLC in vitro and in vivo.
      Title: C1QTNF6 regulates cell proliferation and apoptosis of NSCLC in vitro and in vivo.
    9. CTRP6 rapidly responds to acute nutritional changes, regulating adipose tissue expansion and inflammation in mice.
      Title: CTRP6 rapidly responds to acute nutritional changes, regulating adipose tissue expansion and inflammation in mice.
    10. Circulating levels of C1q/TNF-alpha-related protein 6 (CTRP6) in polycystic ovary syndrome.
      Title: Circulating levels of C1q/TNF-α-related protein 6 (CTRP6) in polycystic ovary syndrome.
    Submit: New GeneRIF Correction See all GeneRIFs (28)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide data reveal novel genes for methotrexate response in a large cohort of juvenile idiopathic arthritis cases.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
    EBI GWAS Catalog
    Novel associations for hypothyroidism include known autoimmune risk loci.
    EBI GWAS Catalog
    Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
    EBI GWAS Catalog
    Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of collagen trimer IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 6
    Names
    C1q and tumor necrosis factor related protein 6
    complement-c1q tumor necrosis factor-related protein 6

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001365878.1 → NP_001352807.1  complement C1q tumor necrosis factor-related protein 6 isoform 2 precursor

      Status: VALIDATED

      Source sequence(s)
      Z82188
      UniProtKB/TrEMBL
      A0A3B0ISU4
      Conserved Domains (2) summary
      pfam01391
      Location:78 → 119
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:126 → 254
      C1q; C1q domain

    2. NM_031910.4 → NP_114116.3  complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_114116.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript.
      Source sequence(s)
      BC020551, BM678522, BM722009, BQ674594, BU147265, BU535692, BU542015, BU859813, CB961508
      Consensus CDS
      CCDS13943.1
      UniProtKB/Swiss-Prot
      Q5H9G8, Q6ZRM7, Q9BXI9
      UniProtKB/TrEMBL
      A0A3B0ISU4
      Related
      ENSP00000338812.2, ENST00000337843.7
      Conserved Domains (2) summary
      pfam01391
      Location:97 → 138
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:145 → 273
      C1q; C1q domain

    3. NM_182486.2 → NP_872292.1  complement C1q tumor necrosis factor-related protein 6 isoform 1 precursor

      See identical proteins and their annotated locations for NP_872292.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR compared to variant 1. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AF329842, BC020551, BM678522
      Consensus CDS
      CCDS13943.1
      UniProtKB/Swiss-Prot
      Q5H9G8, Q6ZRM7, Q9BXI9
      UniProtKB/TrEMBL
      A0A3B0ISU4
      Related
      ENSP00000380299.2, ENST00000397110.6
      Conserved Domains (2) summary
      pfam01391
      Location:97 → 138
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:145 → 273
      C1q; C1q domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      37180166..37199423 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047441114.1 → XP_047297070.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    2. XM_024452153.2 → XP_024307921.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A3B0ISU4
      Conserved Domains (2) summary
      pfam01391
      Location:97 → 138
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:145 → 273
      C1q; C1q domain

    3. XM_047441112.1 → XP_047297068.1  complement C1q tumor necrosis factor-related protein 6 isoform X2

      UniProtKB/Swiss-Prot
      Q5H9G8, Q6ZRM7, Q9BXI9

    4. XM_047441113.1 → XP_047297069.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    5. XM_024452150.2 → XP_024307918.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A3B0ISU4
      Conserved Domains (2) summary
      pfam01391
      Location:97 → 138
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:145 → 273
      C1q; C1q domain

    6. XM_011529857.3 → XP_011528159.1  complement C1q tumor necrosis factor-related protein 6 isoform X3

      See identical proteins and their annotated locations for XP_011528159.1

      UniProtKB/TrEMBL
      A0A3B0ISU4
      Conserved Domains (2) summary
      pfam01391
      Location:78 → 119
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:126 → 254
      C1q; C1q domain

    7. XM_047441111.1 → XP_047297067.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    8. XM_017028569.2 → XP_016884058.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

      UniProtKB/TrEMBL
      A0A3B0ISU4
      Conserved Domains (2) summary
      pfam01391
      Location:97 → 138
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:145 → 273
      C1q; C1q domain

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      37640085..37659343 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325060.1 → XP_054181035.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    2. XM_054325057.1 → XP_054181032.1  complement C1q tumor necrosis factor-related protein 6 isoform X2

    3. XM_054325061.1 → XP_054181036.1  complement C1q tumor necrosis factor-related protein 6 isoform X3

    4. XM_054325059.1 → XP_054181034.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    5. XM_054325058.1 → XP_054181033.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    6. XM_054325056.1 → XP_054181031.1  complement C1q tumor necrosis factor-related protein 6 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXI9.4 GenPept UniProtKB/Swiss-Prot:Q9BXI9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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