Aliases for C1QTNF9B Gene

Aliases for C1QTNF9B Gene

  • C1q And TNF Related 9B 2 3 5
  • Complement C1q And Tumor Necrosis Factor-Related Protein 9B 3 4
  • C1q And Tumor Necrosis Factor Related Protein 9B 2 3
  • C1q/TNF-Related Protein 9B 3 4
  • CTRP9B 3 4
  • Complement C1q And Tumor Necrosis Factor-Related Protein 9-Like 4
  • Collagen Triple Helix Repeat-Containing 3

External Ids for C1QTNF9B Gene

Previous GeneCards Identifiers for C1QTNF9B Gene

  • GC13M024462
  • GC13M005276

Summaries for C1QTNF9B Gene

GeneCards Summary for C1QTNF9B Gene

C1QTNF9B (C1q And TNF Related 9B) is a Protein Coding gene. Diseases associated with C1QTNF9B include Myopia. An important paralog of this gene is C1QTNF9.

UniProtKB/Swiss-Prot Summary for C1QTNF9B Gene

  • Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.

Additional gene information for C1QTNF9B Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QTNF9B Gene

Genomics for C1QTNF9B Gene

GeneHancer (GH) Regulatory Elements for C1QTNF9B Gene

Promoters and enhancers for C1QTNF9B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J023954 Promoter/Enhancer 0.6 EPDnew FANTOM5 500.2 -51.7 -51700 0.4 ENSG00000287530 LOC105370115 piR-38454 piR-57922 C1QTNF9B PCOTH
GH13J023900 Enhancer 0.4 Ensembl 500.7 +1.2 1154 1.4 JUN GATA3 FOS CEBPB C1QTNF9B C1QTNF9 MIPEP lnc-MIPEP-1
GH13J023465 Promoter/Enhancer 1.7 Ensembl ENCODE CraniofacialAtlas 12 +435.7 435666 2 CTCF NRF1 ZFX ZBTB26 RELA MEF2C TGIF2 RAD21 CTBP1 TRIM22 LINC00327 C1QTNF9B MIPEP PCOTH TNFRSF19 RF00017-1368
GH13J023578 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.3 +322.5 322524 3.7 CTCF SIN3A NRF1 POLR2G ZIC2 ZBTB10 ZNF423 ZBTB26 KLF4 RFX1 TNFRSF19 lnc-SACS-8 C1QTNF9B MIPEP PCOTH piR-32214-131 RF00017-1368
GH13J023372 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 11.1 +526.5 526485 8.3 EP300 NRF1 POLR2G USF1 SP1 PHF8 JUND FOS CTCF POLR2A MIPEP PCOTH C1QTNF9B SACS RPLP1P13 lnc-SGCG-9 SACS-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QTNF9B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QTNF9B

Genomic Locations for C1QTNF9B Gene

Genomic Locations for C1QTNF9B Gene
chr13:23,890,525-23,902,655
(GRCh38/hg38)
Size:
12,131 bases
Orientation:
Minus strand
chr13:24,465,238-24,476,794
(GRCh37/hg19)
Size:
11,557 bases
Orientation:
Minus strand

Genomic View for C1QTNF9B Gene

Genes around C1QTNF9B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QTNF9B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QTNF9B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QTNF9B Gene

Proteins for C1QTNF9B Gene

  • Protein details for C1QTNF9B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    B2RNN3-C1T9B_HUMAN
    Recommended name:
    Complement C1q and tumor necrosis factor-related protein 9B
    Protein Accession:
    B2RNN3
    Secondary Accessions:
    • A2A3T6
    • B9EH31
    • Q0VGC5
    • Q5VX65
    • Q5VX66
    • Q8IUU4

    Protein attributes for C1QTNF9B Gene

    Size:
    333 amino acids
    Molecular mass:
    34713 Da
    Quaternary structure:
    • Interacts with CTRP9A and ADIPOQ. Forms heterotrimers and heterooligomeric complexes with CTRP9A.

    Alternative splice isoforms for C1QTNF9B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for C1QTNF9B Gene

Post-translational modifications for C1QTNF9B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1QTNF9B Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for C1QTNF9B Gene

Domains & Families for C1QTNF9B Gene

Gene Families for C1QTNF9B Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted secreted proteins

Protein Domains for C1QTNF9B Gene

Suggested Antigen Peptide Sequences for C1QTNF9B Gene

GenScript: Design optimal peptide antigens:
  • Complement C1q tumor necrosis factor-related protein 9-like (C1T9B_HUMAN)
genes like me logo Genes that share domains with C1QTNF9B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1QTNF9B Gene

Function for C1QTNF9B Gene

Molecular function for C1QTNF9B Gene

UniProtKB/Swiss-Prot Function:
Probable adipokine. Activates AMPK, AKT, and p44/42 MAPK signaling pathways.

Phenotypes From GWAS Catalog for C1QTNF9B Gene

Gene Ontology (GO) - Molecular Function for C1QTNF9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 19666007
genes like me logo Genes that share ontologies with C1QTNF9B: view
genes like me logo Genes that share phenotypes with C1QTNF9B: view

Animal Models for C1QTNF9B Gene

MGI Knock Outs for C1QTNF9B:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for C1QTNF9B Gene

Localization for C1QTNF9B Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QTNF9B Gene

Secreted. Note=Heteromeric complex formation with CTRP9A or ADIPOQ is required for secretion, otherwise, it is retained in the endoplasmic reticulum.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for C1QTNF9B gene
Compartment Confidence
extracellular 4

Gene Ontology (GO) - Cellular Components for C1QTNF9B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
genes like me logo Genes that share ontologies with C1QTNF9B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for C1QTNF9B Gene

Pathways & Interactions for C1QTNF9B Gene

PathCards logo

SuperPathways for C1QTNF9B Gene

No Data Available

Interacting Proteins for C1QTNF9B Gene

;

Gene Ontology (GO) - Biological Process for C1QTNF9B Gene

None

No data available for Pathways by source and SIGNOR curated interactions for C1QTNF9B Gene

Drugs & Compounds for C1QTNF9B Gene

No Compound Related Data Available

Transcripts for C1QTNF9B Gene

mRNA/cDNA for C1QTNF9B Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1QTNF9B Gene

No ASD Table

Relevant External Links for C1QTNF9B Gene

GeneLoc Exon Structure for
C1QTNF9B

Expression for C1QTNF9B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1QTNF9B Gene

mRNA differential expression in normal tissues according to GTEx for C1QTNF9B Gene

This gene is overexpressed in Testis (x9.8) and Prostate (x6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for C1QTNF9B Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QTNF9B

SOURCE GeneReport for Unigene cluster for C1QTNF9B Gene:

Hs.740810

mRNA Expression by UniProt/SwissProt for C1QTNF9B Gene:

B2RNN3-C1T9B_HUMAN
Tissue specificity: Expressed at low levels. Not expressed in adipose tissues.

Evidence on tissue expression from TISSUES for C1QTNF9B Gene

  • Nervous system(4.3)
genes like me logo Genes that share expression patterns with C1QTNF9B: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QTNF9B Gene

Orthologs for C1QTNF9B Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF9B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C1QTNF9B 30
  • 98.29 (n)
-- 31
  • 97 (a)
ManyToMany
-- 31
  • 96 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 31
  • 89 (a)
OneToMany
C1QTNF9 30
  • 86.59 (n)
rat
(Rattus norvegicus)
Mammalia C1qtnf9 30
  • 82.48 (n)
mouse
(Mus musculus)
Mammalia C1qtnf9 17 31 30
  • 81.68 (n)
cow
(Bos Taurus)
Mammalia C1QTNF9 31 30
  • 80.98 (n)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 73 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 62 (a)
OneToMany
chicken
(Gallus gallus)
Aves C1QTNF9 30
  • 66.77 (n)
-- 31
  • 63 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 31
  • 61 (a)
OneToMany
zebrafish
(Danio rerio)
Actinopterygii c1qtnf9 31
  • 54 (a)
OneToMany
Species where no ortholog for C1QTNF9B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for C1QTNF9B Gene

ENSEMBL:
Gene Tree for C1QTNF9B (if available)
TreeFam:
Gene Tree for C1QTNF9B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QTNF9B: view image

Paralogs for C1QTNF9B Gene

Variants for C1QTNF9B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QTNF9B Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
710181 Benign: not provided 23,891,334(-) G/A NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
775324 Benign: not provided 23,891,564(-) A/T MISSENSE_VARIANT,INTRON_VARIANT
789633 Benign: not provided 23,891,461(-) C/T MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for C1QTNF9B Gene

Structural Variations from Database of Genomic Variants (DGV) for C1QTNF9B Gene

Variant ID Type Subtype PubMed ID
dgv1615n100 CNV gain 25217958
dgv3084n54 CNV gain 21841781
esv2422502 CNV duplication 17116639
esv2751136 CNV loss 17911159
esv3580576 CNV loss 25503493
esv3631536 CNV gain 21293372
esv3892311 CNV gain 25118596
esv5325 OTHER complex 18987735
nsv1041095 CNV loss 25217958
nsv1078303 OTHER inversion 25765185
nsv1140246 OTHER inversion 24896259
nsv1151909 OTHER inversion 26484159
nsv455837 CNV gain 19166990
nsv525965 CNV gain 19592680
nsv561292 CNV loss 21841781
nsv832566 CNV gain 17160897
nsv983560 CNV duplication 23825009

Variation tolerance for C1QTNF9B Gene

Residual Variation Intolerance Score: 94.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 11.72; 93.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QTNF9B Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QTNF9B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QTNF9B Gene

Disorders for C1QTNF9B Gene

MalaCards: The human disease database

(1) MalaCards diseases for C1QTNF9B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
myopia
  • near vision
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for C1QTNF9B

genes like me logo Genes that share disorders with C1QTNF9B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for C1QTNF9B Gene

Publications for C1QTNF9B Gene

  1. CTRP8 and CTRP9B are novel proteins that hetero-oligomerize with C1q/TNF family members. (PMID: 19666007) Peterson JM … Wong GW (Biochemical and biophysical research communications 2009) 3 4 54
  2. C1q and its growing family. (PMID: 17544811) Ghai R … Kishore U (Immunobiology 2007) 2 3 54
  3. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 54
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin EL … Gygi SP (Cell 2015) 3 54
  5. Proteomic analysis of podocyte exosome-enriched fraction from normal human urine. (PMID: 23376485) Prunotto M … Moll S (Journal of proteomics 2013) 3 54

Products for C1QTNF9B Gene

  • Biorbyt antibodies for C1QTNF9B

Sources for C1QTNF9B Gene