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

    Gene ID: 114898, updated on 2-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
    mouse all
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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 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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    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

    Gene LinkOut

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

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