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

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 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

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_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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?

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.
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 EBI GWAS CatalogPubMed

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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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)

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

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