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

Gene ID: 387911, updated on 16-Jan-2024

Summary

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 energy homeostasis; negative regulation of cell size; 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, Apr 2022]
Expression
Biased expression in testis (RPKM 4.3), skin (RPKM 4.1) and 12 other tissues See more
Orthologs
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Genomic context

See C1QTNF9B in Genome Data Viewer
Location:
13q12.12
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 13 NC_000013.11 (23891099..23897502, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 13 NC_060937.1 (23097537..23108727, complement)
105.20220307 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

Expression

  • 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

Phenotypes

EBI GWAS Catalog

Description
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
EBI GWAS Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

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

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_001007537.3NP_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:131189
    Collagen; Collagen triple helix repeat (20 copies)
    PHA03169
    Location:41176
    PHA03169; hypothetical protein; Provisional
    pfam00386
    Location:203329
    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_2023_10

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_047430301.1XP_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_054374517.1XP_054230492.1  complement C1q and tumor necrosis factor-related protein 9B isoform X2

    UniProtKB/TrEMBL
    A0A3B0ISS0