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Aliases for C1QTNF5 Gene

Aliases for C1QTNF5 Gene

  • C1q And TNF Related 5 2 3 5
  • C1q And Tumor Necrosis Factor Related Protein 5 2 3
  • Myonectin 2 3
  • CTRP5 3 4
  • Complement C1q Tumor Necrosis Factor-Related Protein 5 3
  • Complement-C1q Tumor Necrosis Factor-Related Protein 5 2
  • C1q TNF-Alpha-Related Protein 5 3

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 Retinal Degeneration. An important paralog of this gene is COL10A1.

Gene Wiki entry for C1QTNF5 Gene

Additional gene information for C1QTNF5 Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for C1QTNF5 Gene

Genomics for C1QTNF5 Gene

GeneHancer (GH) Regulatory Elements for C1QTNF5 Gene

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 2.1 EPDnew Ensembl ENCODE dbSUPER 650.4 +7.6 7609 5.3 PKNOX1 ATF1 ARID4B SIN3A ZNF48 GLIS2 ZNF143 ATF7 RUNX3 SP3 ENSG00000245385 C1QTNF5 MFRP RNF26 CBL GC11M119337
GH11J119346 Promoter 0.5 EPDnew 650.7 +0.0 36 0.1 C1QTNF5 MFRP ENSG00000245385
GH11J119347 Enhancer 0.5 ENCODE 650.7 -0.8 -764 1.1 NFIL3 HLF IKZF1 ZFP36 ZMYM3 ZKSCAN1 C1QTNF5 MFRP RNF26 USP2 GC11M119369
GH11J119374 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE dbSUPER 11.8 -30.3 -30341 5.5 PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZNF143 SP5 NFYC USP2 THY1 MFRP C1QTNF5 ENSG00000254740
GH11J119366 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 13.5 -22.9 -22896 6.4 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A DMAP1 YY1 FOS SP5 THY1 C1QTNF5 ABCG4 MFRP USP2 NLRX1 H2AFX GC11M119369 ENSG00000254740
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around C1QTNF5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the C1QTNF5 gene promoter:

Genomic Locations for C1QTNF5 Gene

Genomic Locations for C1QTNF5 Gene
chr11:119,338,934-119,346,673
(GRCh38/hg38)
Size:
7,740 bases
Orientation:
Minus strand
chr11:119,209,652-119,217,383
(GRCh37/hg19)

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

Suggested Antigen Peptide Sequences for C1QTNF5 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with C1QTNF5: view

No data available for 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: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) , miRNA , Transcription Factor Targets and HOMER Transcription for C1QTNF5 Gene

Localization for C1QTNF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C1QTNF5 Gene

Secreted.

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 C1QTNF5 gene
Compartment Confidence
extracellular 5
plasma membrane 2

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 IEA --
GO:0005886 plasma membrane IEA --
GO:0005923 bicellular tight junction IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view

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

Pathways & Interactions for C1QTNF5 Gene

SuperPathways for C1QTNF5 Gene

No Data Available

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 --
GO:0070206 protein trimerization IEA --
genes like me logo Genes that share ontologies with C1QTNF5: view

No data available for Pathways by source and SIGNOR curated interactions for C1QTNF5 Gene

Drugs & Compounds for C1QTNF5 Gene

No Compound Related Data Available

Transcripts for C1QTNF5 Gene

mRNA/cDNA for C1QTNF5 Gene

Unigene Clusters for C1QTNF5 Gene

C1q and tumor necrosis factor related protein 5:
Representative Sequences:

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
ECgene alternative splicing isoforms for
C1QTNF5

Expression for C1QTNF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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



NURSA nuclear receptor signaling pathways regulating expression of C1QTNF5 Gene:

C1QTNF5

SOURCE GeneReport for Unigene cluster for C1QTNF5 Gene:

Hs.632102

Evidence on tissue expression from TISSUES for C1QTNF5 Gene

  • Nervous system(4)

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 and mRNA Expression by UniProt/SwissProt 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 34
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1QTNF5 34 33
  • 92.25 (n)
OneToOne
cow
(Bos Taurus)
Mammalia C1QTNF5 34 33
  • 91.63 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C1QTNF5 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia C1qtnf5 33
  • 86.83 (n)
mouse
(Mus musculus)
Mammalia C1qtnf5 16 34 33
  • 85.87 (n)
chicken
(Gallus gallus)
Aves C1QTNF5 34 33
  • 73.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia C1QTNF5 34
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c1qtnf5 33
  • 56.85 (n)
zebrafish
(Danio rerio)
Actinopterygii c1qtnf5 34 33
  • 64.33 (n)
OneToOne
wufb02f05 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 14 (a)
OneToMany
Species where no ortholog for C1QTNF5 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)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • 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 from dbSNP and Humsavar for C1QTNF5 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs1032711467 uncertain-significance, Retinal degeneration 119,341,370(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant
rs111033578 conflicting-interpretations-of-pathogenicity, Late-onset retinal degeneration, Late-onset retinal degeneration (LORD) [MIM:605670] 119,339,574(-) G/C coding_sequence_variant, missense_variant
rs11217241 benign, likely-benign, not specified, Retinal degeneration, Microphthalmia, isolated 6 119,342,593(-) C/A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs121908189 pathogenic, Nanophthalmos 2, Microphthalmia, isolated 5 119,345,538(-) G/A 5_prime_UTR_variant, genic_upstream_transcript_variant
rs121908190 pathogenic, Nanophthalmos 2 119,345,516(-) A/G 5_prime_UTR_variant, genic_upstream_transcript_variant

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

(6) MalaCards diseases for C1QTNF5 Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
late-onset retinal degeneration
  • retinitis pigmentosa
retinal degeneration
  • degeneration of retina
microphthalmia, isolated 5
  • mcop5
nanophthalmos 2
  • nno2
microphthalmia, isolated 6
  • mcop6
- 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
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 22 58
  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 58
  3. 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 44 58
  4. 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 44 58
  5. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PMID: 16376663) Subrayan V … Dhillon B (American journal of ophthalmology 2005) 3 22 58

Products for C1QTNF5 Gene

Sources for C1QTNF5 Gene

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