This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monoc... See more...

Aliases for C1QTNF5 Gene

Aliases for C1QTNF5 Gene

  • C1q And TNF Related 5 2 3 5
  • CTRP5 2 3 4
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 3 4
  • C1q And Tumor Necrosis Factor Related Protein 5 2 3
  • Myonectin 2 3
  • Complement-C1q Tumor Necrosis Factor-Related Protein 5 2
  • Membrane Frizzled-Related Protein 3
  • C1q TNF-Alpha-Related Protein 5 3
  • DKFZp586B0621 2
  • C1QTNF5 5
  • MFRP 3
  • LORD 2

External Ids for C1QTNF5 Gene

Previous GeneCards Identifiers for C1QTNF5 Gene

  • GC11U990608
  • GC11M120721
  • GC11M119243
  • GC11M118747
  • GC11M118715
  • GC11M115151
  • GC11M119217

Summaries for C1QTNF5 Gene

Entrez Gene Summary for C1QTNF5 Gene

  • This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter. [provided by RefSeq, Jun 2013]

GeneCards Summary for C1QTNF5 Gene

C1QTNF5 (C1q And TNF Related 5) is a Protein Coding gene. Diseases associated with C1QTNF5 include Late-Onset Retinal Degeneration and Inherited Retinal Disorder. An important paralog of this gene is C1QTNF7.

Gene Wiki entry for C1QTNF5 Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for C1QTNF5 Gene

Genomics for C1QTNF5 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for C1QTNF5 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
GH11J119336 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.4 +7.6 7641 5.3 HNRNPL CTCF TEAD4 PRDM10 IKZF1 KDM1A LARP7 ZNF143 PHF21A RBFOX2 ENSG00000245385 MN309305 C1QTNF5 MFRP RNF26 CBL lnc-C1QTNF5-2
GH11J119347 Enhancer 0.6 Ensembl ENCODE 600.7 -1.0 -1016 1.7 IKZF1 ZKSCAN1 NFIL3 ZMYM3 HLF C1QTNF5 MFRP lnc-C1QTNF5-7 RNF26 USP2 RF00017-1050
GH11J119346 Promoter 0.3 EPDnew 600.7 +0.1 68 0.1 C1QTNF5 MFRP lnc-C1QTNF5-7 RNF26
GH11J119374 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.8 -30.3 -30309 5.5 HNRNPL GATAD2A CTCF TEAD4 PRDM10 ZNF629 TFE3 LEF1 IKZF1 JUND USP2 THY1 VPS11 HINFP MFRP C1QTNF5 ENSG00000255121 CENATAC RNF26 ARCN1
GH11J119469 Enhancer 1.2 FANTOM5 Ensembl ENCODE dbSUPER 11.3 -124.6 -124584 3 GATAD2A RXRB SP1 CEBPA JUND FOXA2 FOS ZFHX2 ZNF189 SMAD4 THY1 USP2 ENSG00000254740 USP2-AS1 MFRP C1QTNF5 ENSG00000254561 RF00998-026 piR-38351-089 NECTIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around C1QTNF5 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for C1QTNF5

Top Transcription factor binding sites by QIAGEN in the C1QTNF5 gene promoter:
  • C/EBPalpha
  • CREB
  • deltaCREB
  • Egr-4
  • HTF
  • MyoD
  • POU2F1
  • POU2F1a
  • S8
  • STAT1

Genomic Locations for C1QTNF5 Gene

Genomic Locations for C1QTNF5 Gene
chr11:119,338,942-119,346,705
(GRCh38/hg38)
Size:
7,764 bases
Orientation:
Minus strand
chr11:119,209,652-119,217,383
(GRCh37/hg19)
Size:
7,732 bases
Orientation:
Minus strand

Genomic View for C1QTNF5 Gene

Genes around C1QTNF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
C1QTNF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for C1QTNF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C1QTNF5 Gene

Proteins for C1QTNF5 Gene

  • Protein details for C1QTNF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BXJ0-C1QT5_HUMAN
    Recommended name:
    Complement C1q tumor necrosis factor-related protein 5
    Protein Accession:
    Q9BXJ0
    Secondary Accessions:
    • A6NDD3
    • B0YJ35
    • Q335M2
    • Q8N6P2
    • Q9UFX4

    Protein attributes for C1QTNF5 Gene

    Size:
    243 amino acids
    Molecular mass:
    25298 Da
    Quaternary structure:
    • May interact with ERFE (By similarity). Homotrimer (via collagen-like domain). May form higher order oligomers by supercoiling of the trimers.
    Miscellaneous:
    • This protein is produced by a bicistronic gene which also produces the MFRP protein from a non-overlapping reading frame.

    Three dimensional structures from OCA and Proteopedia for C1QTNF5 Gene

neXtProt entry for C1QTNF5 Gene

Post-translational modifications for C1QTNF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C1QTNF5 Gene

No data available for DME Specific Peptides for C1QTNF5 Gene

Domains & Families for C1QTNF5 Gene

Gene Families for C1QTNF5 Gene

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

Protein Domains for C1QTNF5 Gene

InterPro:
Blocks:
  • Collagen triple helix repeat
  • Complement C1q protein
ProtoNet:

Suggested Antigen Peptide Sequences for C1QTNF5 Gene

GenScript: Design optimal peptide antigens:
  • Complement C1q tumor necrosis factor-related protein 5 variant 2 (B0YJ37_HUMAN)
  • Complement C1q tumor necrosis factor-related protein 5 (C1QT5_HUMAN)
genes like me logo Genes that share domains with C1QTNF5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for C1QTNF5 Gene

Function for C1QTNF5 Gene

Phenotypes From GWAS Catalog for C1QTNF5 Gene

Gene Ontology (GO) - Molecular Function for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA --
GO:0042802 identical protein binding IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view
genes like me logo Genes that share phenotypes with C1QTNF5: view

Human Phenotype Ontology for C1QTNF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for C1QTNF5 Gene

MGI Knock Outs for C1QTNF5:

Animal Model Products

  • Taconic Biosciences Mouse Models for C1QTNF5

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QTNF5

Clone Products

No data available for Molecular function , Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for C1QTNF5 Gene

Localization for C1QTNF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QTNF5 Gene

Secreted.

Gene Ontology (GO) - Cellular Components for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005581 collagen trimer IEA --
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane IBA 21873635
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for C1QTNF5 Gene

Pathways & Interactions for C1QTNF5 Gene

PathCards logo

SuperPathways for C1QTNF5 Gene

No Data Available

Interacting Proteins for C1QTNF5 Gene

STRING Interaction Network Preview (showing top 2 STRING interactants - click image to see details)
STRING Interaction Network
Selected Interacting proteins: Q9BXJ0-C1QT5_HUMAN ENSP00000431140 for C1QTNF5 Gene via UniProtKB STRING IID

SIGNOR curated interactions for C1QTNF5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for C1QTNF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009306 protein secretion IEA --
GO:0048839 inner ear development IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view

No data available for Pathways by source for C1QTNF5 Gene

Drugs & Compounds for C1QTNF5 Gene

No Compound Related Data Available

Transcripts for C1QTNF5 Gene

mRNA/cDNA for C1QTNF5 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for C1QTNF5

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for C1QTNF5 Gene

No ASD Table

Relevant External Links for C1QTNF5 Gene

GeneLoc Exon Structure for
C1QTNF5

Expression for C1QTNF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for C1QTNF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for C1QTNF5 Gene

This gene is overexpressed in Gallbladder (45.2) and Breast (11.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for C1QTNF5 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for C1QTNF5

SOURCE GeneReport for Unigene cluster for C1QTNF5 Gene:

Hs.632102

Phenotype-based relationships between genes and organs from Gene ORGANizer for C1QTNF5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • immune
  • nervous
Regions:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • head
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with C1QTNF5: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for C1QTNF5 Gene

Orthologs for C1QTNF5 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF5 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia C1QTNF5 31
  • 100 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1QTNF5 30 31
  • 92.25 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia C1QTNF5 30 31
  • 91.63 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia C1QTNF5 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia C1qtnf5 30
  • 86.83 (n)
Mouse
(Mus musculus)
Mammalia C1qtnf5 30 17 31
  • 85.87 (n)
OneToOne
Chicken
(Gallus gallus)
Aves C1QTNF5 30 31
  • 73.83 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia C1QTNF5 31
  • 70 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c1qtnf5 30
  • 56.85 (n)
Zebrafish
(Danio rerio)
Actinopterygii c1qtnf5 30 31
  • 64.33 (n)
OneToOne
wufb02f05 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 14 (a)
OneToMany
Species where no ortholog for C1QTNF5 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for C1QTNF5 Gene

ENSEMBL:
Gene Tree for C1QTNF5 (if available)
TreeFam:
Gene Tree for C1QTNF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for C1QTNF5: view image

Paralogs for C1QTNF5 Gene

(4) SIMAP similar genes for C1QTNF5 Gene using alignment to 1 proteins:

  • C1QT5_HUMAN
genes like me logo Genes that share paralogs with C1QTNF5: view

Variants for C1QTNF5 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for C1QTNF5 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
707450 Benign: Microphthalmia, isolated 5 119,346,357(-) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
717941 Likely Benign: not provided 119,344,307(-) G/C INTRON_VARIANT
744709 Likely Benign: not provided 119,340,251(-) G/A SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT
751817 Likely Benign: Microphthalmia, isolated 5 119,345,864(-) C/T SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT
755750 Likely Benign: not provided 119,339,631(-) G/C SYNONYMOUS_VARIANT,THREE_PRIME_UTR_VARIANT

Additional dbSNP identifiers (rs#s) for C1QTNF5 Gene

Structural Variations from Database of Genomic Variants (DGV) for C1QTNF5 Gene

Variant ID Type Subtype PubMed ID
nsv826103 CNV gain 20364138

Variation tolerance for C1QTNF5 Gene

Residual Variation Intolerance Score: 40.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.62; 13.27% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for C1QTNF5 Gene

Human Gene Mutation Database (HGMD)
C1QTNF5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
C1QTNF5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C1QTNF5 Gene

Disorders for C1QTNF5 Gene

MalaCards: The human disease database

(8) MalaCards diseases for C1QTNF5 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
late-onset retinal degeneration
  • retinitis pigmentosa
inherited retinal disorder
  • retinal dystrophy
fundus dystrophy
  • retinal dystrophy
retinal degeneration
  • degeneration of retina
microphthalmia, isolated 5
  • mcop5
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

C1QT5_HUMAN
  • Late-onset retinal degeneration (LORD) [MIM:605670]: Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy. {ECO:0000269 PubMed:12944416, ECO:0000269 PubMed:22892318}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for C1QTNF5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with C1QTNF5: view

No data available for Genatlas for C1QTNF5 Gene

Publications for C1QTNF5 Gene

  1. Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration. (PMID: 12944416) Hayward C … Wright AF (Human molecular genetics 2003) 2 3 4 23
  2. Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. (PMID: 22892318) Tu X … Palczewski K (Journal of structural biology 2012) 3 4
  3. Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people. (PMID: 17766366) Yamada Y … Nozawa Y (Journal of medical genetics 2008) 3 41
  4. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PMID: 18842294) Ennis S … Lotery A (Lancet (London, England) 2008) 3 41
  5. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PMID: 16376663) Subrayan V … Dhillon B (American journal of ophthalmology 2005) 3 23

Products for C1QTNF5 Gene

Sources for C1QTNF5 Gene