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

Gene ID: 114904, updated on 2-Nov-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, Nov 2024]
Expression
Broad expression in endometrium (RPKM 12.1), placenta (RPKM 6.4) and 16 other tissues See more
Orthologs
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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

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