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    C1QTNF9B C1q and TNF related 9B [ Homo sapiens (human) ]

    Gene ID: 387911, updated on 2-Nov-2024

    Summary

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    Official Symbol
    C1QTNF9Bprovided by HGNC
    Official Full Name
    C1q and TNF related 9Bprovided by HGNC
    Primary source
    HGNC:HGNC:34072
    See related
    Ensembl:ENSG00000205863 MIM:614148; AllianceGenome:HGNC:34072
    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
    CTRP9B
    Summary
    Predicted to enable hormone activity and identical protein binding activity. Predicted to act upstream of or within several processes, including negative regulation of cell size; positive regulation of cellular response to insulin stimulus; and positive regulation of protein serine/threonine kinase activity. Predicted to be located in extracellular space. Predicted to be part of collagen trimer. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Biased expression in testis (RPKM 4.3), skin (RPKM 4.1) and 12 other tissues See more
    Orthologs
    all
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    Genomic context

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    See C1QTNF9B in Genome Data Viewer
    Location:
    13q12.12
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23891099..23897502, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23097537..23108727, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 13 NC_000013.10 (24465238..24471641, complement)

    Chromosome 13 - NC_000013.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370113 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7461 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7462 Neighboring gene mitochondrial intermediate peptidase Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7463 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7464 Neighboring gene MT-CO3 pseudogene 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7465 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7466 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7467 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr13:24386207-24386732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7468 Neighboring gene H3K27ac hESC enhancer GRCh37_chr13:24463319-24463819 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7469 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr13:24477599-24478098 Neighboring gene ankyrin repeat domain 20 family member A19, pseudogene Neighboring gene prostate and testis expressed opposite C1QTNF9B and MIPEP Neighboring gene uncharacterized LOC105370115

    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. C1q/TNF-related protein-9 suppresses inflammation in synovial cells from patients with osteoarthritis.
      Title: C1q/TNF-related protein-9 suppresses inflammation in synovial cells from patients with osteoarthritis.
    2. two novel human C1q/TNF family members, designated as CTRP8 and CTRP9B were described.
      Title: CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members.
    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
    Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
    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

    Clone Names

    • MGC117159

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    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 and tumor necrosis factor-related protein 9B
    Names
    C1q and tumor necrosis factor related protein 9B
    C1q/TNF-related protein 9B
    collagen triple helix repeat-containing

    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_001007537.3 → NP_001007538.1  complement C1q and tumor necrosis factor-related protein 9B precursor

      See identical proteins and their annotated locations for NP_001007538.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the protein.
      Source sequence(s)
      AL445985
      Consensus CDS
      CCDS31947.1
      UniProtKB/Swiss-Prot
      B2RNN3, B9EH31
      UniProtKB/TrEMBL
      A0A3B0ISS0
      Related
      ENSP00000518885.1, ENST00000713589.1
      Conserved Domains (3) summary
      pfam01391
      Location:131 → 189
      Collagen; Collagen triple helix repeat (20 copies)
      PHA03169
      Location:41 → 176
      PHA03169; hypothetical protein; Provisional
      pfam00386
      Location:203 → 329
      C1q; C1q domain

    RNA

    1. NR_104426.1 RNA Sequence

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in both the 5' and 3' exon structures, compared to variant 1. This variant is represented as non-coding because it lacks a large portion of the coding region found in variant 1.
      Source sequence(s)
      BC110413, BC137004
      Related
      ENST00000382145.5

    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_000013.11 Reference GRCh38.p14 Primary Assembly

      Range
      23891099..23897502 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047430301.1 → XP_047286257.1  complement C1q and tumor necrosis factor-related protein 9B isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060937.1 Alternate T2T-CHM13v2.0

      Range
      23097537..23108727 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054374517.1 → XP_054230492.1  complement C1q and tumor necrosis factor-related protein 9B isoform X2

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    B2RNN3.1 GenPept UniProtKB/Swiss-Prot:B2RNN3

    Gene LinkOut

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

    Chemical Information
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