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    C1QTNF4 C1q and TNF related 4 [ Homo sapiens (human) ]

    Gene ID: 114900, updated on 10-Dec-2024

    Summary

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    Official Symbol
    C1QTNF4provided by HGNC
    Official Full Name
    C1q and TNF related 4provided by HGNC
    Primary source
    HGNC:HGNC:14346
    See related
    Ensembl:ENSG00000172247 MIM:614911; AllianceGenome:HGNC:14346
    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
    CTRP4; ZACRP4
    Summary
    Predicted to enable cytokine activity. Involved in positive regulation of cytokine production and positive regulation of signal transduction. Located in extracellular space. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in brain (RPKM 5.9), bone marrow (RPKM 0.3) and 2 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See C1QTNF4 in Genome Data Viewer
    Location:
    11p11.2
    Exon count:
    3
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47589667..47595304, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47750063..47756732, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (47611219..47615963, complement)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600081-47600740 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:47600741-47601399 Neighboring gene ReSE screen-validated silencer GRCh37_chr11:47602141-47602358 Neighboring gene MPRA-validated peak1274 silencer Neighboring gene MPRA-validated peak1275 silencer Neighboring gene NADH:ubiquinone oxidoreductase core subunit S3 Neighboring gene family with sequence similarity 180 member B Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4701 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3336 Neighboring gene mitochondrial carrier 2 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3337 Neighboring gene AGBL carboxypeptidase 2 Neighboring gene Sharpr-MPRA regulatory region 12296 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4702

    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
    • 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. Association of serum CTRP4 levels with vascular endothelial function in patients with type 2 diabetes mellitus: CTRP4 ameliorating inflammation, proliferation and migration in human umbilical vein endothelial cells. Gao J, et al. Acta Diabetol, 2024 May. PMID 38286878, Free PMC Article
    2. Serum C1q/TNF-Related Protein 4 Levels are Associated with Nonalcoholic Fatty Liver Disease in Type 2 Diabetic Patients. Han J, et al. Metab Syndr Relat Disord, 2023 Apr. PMID 36787473
    3. C1q tumor necrosis factor-related protein 4 is associated with coronary artery disease in patients with type 2 diabetes. Gao J, et al. J Diabetes Investig, 2022 Oct. PMID 35598316, Free PMC Article
    4. Increased serum C1q/TNF-related protein 4 concentration in patients with acute coronary syndrome. Dai Y, et al. Clin Chim Acta, 2022 Jan 1. PMID 34801485
    5. C1QTNF4 gene p.His198Gln mutation is correlated with early-onset systemic lupus erythematosus in Iranian patients. Pakzad B, et al. Int J Rheum Dis, 2020 Nov. PMID 33009720

    See all (15) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Association of serum CTRP4 levels with vascular endothelial function in patients with type 2 diabetes mellitus: CTRP4 ameliorating inflammation, proliferation and migration in human umbilical vein endothelial cells.
      Title: Association of serum CTRP4 levels with vascular endothelial function in patients with type 2 diabetes mellitus: CTRP4 ameliorating inflammation, proliferation and migration in human umbilical vein endothelial cells.
    2. CTRP4 ameliorates inflammation, thereby attenuating the interaction between HUVECs and THP-1 monocytes through SIRT6/Nrf2 signaling.
      Title: CTRP4 ameliorates inflammation, thereby attenuating the interaction between HUVECs and THP-1 monocytes through SIRT6/Nrf2 signaling.
    3. Serum C1q/TNF-Related Protein 4 Levels are Associated with Nonalcoholic Fatty Liver Disease in Type 2 Diabetic Patients.
      Title: Serum C1q/TNF-Related Protein 4 Levels are Associated with Nonalcoholic Fatty Liver Disease in Type 2 Diabetic Patients.
    4. C1q tumor necrosis factor-related protein 4 is associated with coronary artery disease in patients with type 2 diabetes.
      Title: C1q tumor necrosis factor-related protein 4 is associated with coronary artery disease in patients with type 2 diabetes.
    5. Increased serum C1q/TNF-related protein 4 concentration in patients with acute coronary syndrome.
      Title: Increased serum C1q/TNF-related protein 4 concentration in patients with acute coronary syndrome.
    6. C1QTNF4 gene p.His198Gln mutation is correlated with early-onset systemic lupus erythematosus in Iranian patients.
      Title: C1QTNF4 gene p.His198Gln mutation is correlated with early-onset systemic lupus erythematosus in Iranian patients.
    7. In a Pakistani family with retinal degeneration, whole-exome sequencing identified 2 homozygous missense variants: c.1304G>A; p.Arg435Gln in ZNF408 (NM_024741) and c.902G>A; p.Gly301Asp in C1QTNF4 (NM_031909). Both segregated with the retinal phenotype in this family and were absent in ethnically matched control chromosomes.
      Title: Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree.
    8. These results establish CTRP4 as a novel nutrient-responsive central regulator of food intake and energy balance.
      Title: C1q/TNF-related protein 4 (CTRP4) is a unique secreted protein with two tandem C1q domains that functions in the hypothalamus to modulate food intake and body weight.
    9. CTRP4 is a novel tumor-promoting inflammatory regulator.
      Title: Identification of C1qTNF-related protein 4 as a potential cytokine that stimulates the STAT3 and NF-κB pathways and promotes cell survival in human cancer cells.
    Submit: New GeneRIF Correction

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables cytokine activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in positive regulation of interleukin-6 production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of interleukin-6-mediated signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of non-canonical NF-kappaB signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of tumor necrosis factor production IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    complement C1q tumor necrosis factor-related protein 4
    Names
    C1q and tumor necrosis factor related protein 4
    C1q/TNF-related protein 4
    complement-c1q tumor necrosis factor-related protein 4

    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_031909.3 → NP_114115.2  complement C1q tumor necrosis factor-related protein 4 precursor

      See identical proteins and their annotated locations for NP_114115.2

      Status: VALIDATED

      Source sequence(s)
      AC104942
      Consensus CDS
      CCDS7942.1
      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9
      Related
      ENSP00000302274.3, ENST00000302514.4
      Conserved Domains (1) summary
      pfam00386
      Location:178 → 311
      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_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      47589667..47595304 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017017166.2 → XP_016872655.1  complement C1q tumor necrosis factor-related protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9
      Conserved Domains (1) summary
      pfam00386
      Location:178 → 311
      C1q; C1q domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_019805496.1 Reference GRCh38.p14 PATCHES

      Range
      17493..24162 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332404.1 → XP_054188379.1  complement C1q tumor necrosis factor-related protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9

    2. XM_054332403.1 → XP_054188378.1  complement C1q tumor necrosis factor-related protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      47750063..47756732 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054367596.1 → XP_054223571.1  complement C1q tumor necrosis factor-related protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9

    2. XM_054367595.1 → XP_054223570.1  complement C1q tumor necrosis factor-related protein 4 isoform X1

      UniProtKB/Swiss-Prot
      Q8IV25, Q9BXJ3
      UniProtKB/TrEMBL
      A0A3B0J0L9
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BXJ3.2 GenPept UniProtKB/Swiss-Prot:Q9BXJ3

    Gene LinkOut

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

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