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C1QTNF2 C1q and TNF related 2 [ Homo sapiens (human) ]

Gene ID: 114898, updated on 27-Nov-2024

Summary

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Official Symbol
C1QTNF2provided by HGNC
Official Full Name
C1q and TNF related 2provided by HGNC
Primary source
HGNC:HGNC:14325
See related
Ensembl:ENSG00000145861 MIM:618647; AllianceGenome:HGNC:14325
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
CTRP2; zacrp2
Summary
Predicted to enable identical protein binding activity and signaling receptor binding activity. Predicted to be involved in regulation of lipid metabolic process. Predicted to act upstream of or within positive regulation of D-glucose import; positive regulation of MAPK cascade; and positive regulation of small molecule metabolic process. Predicted to be located in extracellular space. Predicted to be part of protein-containing complex. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Broad expression in testis (RPKM 1.3), lung (RPKM 1.2) and 23 other tissues See more
Orthologs
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Genomic context

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See C1QTNF2 in Genome Data Viewer
Location:
5q33.3
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (160347754..160370626, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (160876282..160899121, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (159774761..159797633, complement)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene cyclin J like Neighboring gene uncharacterized LOC105377691 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159705762-159706289 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159712429-159713162 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159713163-159713896 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:159715411-159716388 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16582 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16583 Neighboring gene SNRPE pseudogene 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:159825203-159825702 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:159826022-159826707 Neighboring gene family with sequence similarity 200 member C Neighboring gene MPRA-validated peak5561 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23560 Neighboring gene SLU7 homolog, splicing factor

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-2 (CTRP2) Levels are Associated with Coronary Artery Disease. Ilbeigi D, et al. Arch Med Res, 2020 Feb. PMID 32147289
  2. C1q/TNF-related protein 2 (CTRP2) deletion promotes adipose tissue lipolysis and hepatic triglyceride secretion. Lei X, et al. J Biol Chem, 2019 Oct 25. PMID 31439668, Free PMC Article
  3. Regulation of circulating CTRP-2/CTRP-9 and GDF-8/GDF-15 by intralipids and insulin in healthy control and polycystic ovary syndrome women following chronic exercise training. Jerobin J, et al. Lipids Health Dis, 2021 Apr 19. PMID 33874963, Free PMC Article
  4. Weight loss after gastric bypass is associated with a variant at 15q26.1. Hatoum IJ, et al. Am J Hum Genet, 2013 May 2. PMID 23643386, Free PMC Article
  5. A novel p53 regulator, C16ORF72/TAPR1, buffers against telomerase inhibition. Benslimane Y, et al. Aging Cell, 2021 Apr. PMID 33660365, Free PMC Article

See all (13) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Regulation of circulating CTRP-2/CTRP-9 and GDF-8/GDF-15 by intralipids and insulin in healthy control and polycystic ovary syndrome women following chronic exercise training.
    Title: Regulation of circulating CTRP-2/CTRP-9 and GDF-8/GDF-15 by intralipids and insulin in healthy control and polycystic ovary syndrome women following chronic exercise training.
  2. Serum C1q/TNF-Related Protein-2 (CTRP2) Levels are Associated with Coronary Artery Disease.
    Title: Serum C1q/TNF-Related Protein-2 (CTRP2) Levels are Associated with Coronary Artery Disease.
  3. CTRP2 regulates lipid metabolism in adipose tissue and liver.
    Title: C1q/TNF-related protein 2 (CTRP2) deletion promotes adipose tissue lipolysis and hepatic triglyceride secretion.
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

EBI GWAS Catalog

Description
Weight loss after gastric bypass is associated with a variant at 15q26.1.
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)

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 protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in regulation of lipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
  
Component Evidence Code Pubs
part_of collagen trimer IEA
Inferred from Electronic Annotation
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  

General protein information

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Preferred Names
complement C1q tumor necrosis factor-related protein 2
Names
C1q and tumor necrosis factor related protein 2
complement-c1q tumor necrosis factor-related protein 2

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_001366504.1 → NP_001353433.1  complement C1q tumor necrosis factor-related protein 2 isoform 2 precursor

    Status: VALIDATED

    Source sequence(s)
    AC091842, AC112191
    Conserved Domains (2) summary
    pfam01391
    Location:61 → 85
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:85 → 207
    C1q; C1q domain

  2. NM_031908.6 → NP_114114.3  complement C1q tumor necrosis factor-related protein 2 isoform 1 precursor

    Status: VALIDATED

    Source sequence(s)
    AC112191, AY358839
    Consensus CDS
    CCDS4351.3
    UniProtKB/Swiss-Prot
    Q9BXJ5
    UniProtKB/TrEMBL
    A0A3B0INC0, A0A499FIM1
    Related
    ENSP00000498651.1, ENST00000652664.2
    Conserved Domains (2) summary
    pfam01391
    Location:58 → 108
    Collagen; Collagen triple helix repeat (20 copies)
    pfam00386
    Location:151 → 275
    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_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    160347754..160370626 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011534425.3 → XP_011532727.2  complement C1q tumor necrosis factor-related protein 2 isoform X1

  2. XM_047416691.1 → XP_047272647.1  complement C1q tumor necrosis factor-related protein 2 isoform X4

  3. XM_011534426.4 → XP_011532728.2  complement C1q tumor necrosis factor-related protein 2 isoform X2

  4. XM_011534427.3 → XP_011532729.2  complement C1q tumor necrosis factor-related protein 2 isoform X5

  5. XM_047416690.1 → XP_047272646.1  complement C1q tumor necrosis factor-related protein 2 isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    160876282..160899121 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054351549.1 → XP_054207524.1  complement C1q tumor necrosis factor-related protein 2 isoform X1

  2. XM_054351552.1 → XP_054207527.1  complement C1q tumor necrosis factor-related protein 2 isoform X4

  3. XM_054351550.1 → XP_054207525.1  complement C1q tumor necrosis factor-related protein 2 isoform X2

  4. XM_054351553.1 → XP_054207528.1  complement C1q tumor necrosis factor-related protein 2 isoform X5

  5. XM_054351551.1 → XP_054207526.1  complement C1q tumor necrosis factor-related protein 2 isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BXJ5.1 GenPept UniProtKB/Swiss-Prot:Q9BXJ5

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