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

Gene ID: 114900, updated on 5-Mar-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, Apr 2022]
Expression
Biased expression in brain (RPKM 5.9), bone marrow (RPKM 0.3) and 2 other tissues See more
Orthologs
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (47589667..47595304, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (47750063..47756732, complement)
105.20220307 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. 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
  2. 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
  3. 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
  4. 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
  5. Whole-Exome Sequencing Identifies Novel Variants that Co-segregates with Autosomal Recessive Retinal Degeneration in a Pakistani Pedigree. Biswas P, et al. Adv Exp Med Biol, 2018. PMID 29721947

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. 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)

Genotypes

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 molecular_function ND
No biological Data available
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_2023_10

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

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