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

    Gene ID: 114898, updated on 10-Dec-2024

    Summary

    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, Dec 2024]
    Expression
    Broad expression in testis (RPKM 1.3), lung (RPKM 1.2) and 23 other tissues See more
    Orthologs
    NEW
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    Genomic context

    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

    Expression

    • Project title: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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

    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)

    NEW Try the new Transcript table

    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_001366504.1NP_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:6185
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:85207
      C1q; C1q domain
    2. NM_031908.6NP_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:58108
      Collagen; Collagen triple helix repeat (20 copies)
      pfam00386
      Location:151275
      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_011534425.3XP_011532727.2  complement C1q tumor necrosis factor-related protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A499FIM1
    2. XM_047416691.1XP_047272647.1  complement C1q tumor necrosis factor-related protein 2 isoform X4

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

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

    5. XM_047416690.1XP_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_054351549.1XP_054207524.1  complement C1q tumor necrosis factor-related protein 2 isoform X1

      UniProtKB/TrEMBL
      A0A499FIM1
    2. XM_054351552.1XP_054207527.1  complement C1q tumor necrosis factor-related protein 2 isoform X4

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

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

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