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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C1QTNF5 Gene

protein-coding   GIFtS: 51
GCID: GC11M119243

C1q And Tumor Necrosis Factor Related Protein 5

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
C1q And Tumor Necrosis Factor Related Protein 51 2     C1q TNF-Alpha-Related Protein 52
CTRP52 3 5     Complement C1q Tumor Necrosis Factor-Related Protein 52
Complement C1q Tumor Necrosis Factor-Related Protein 5 Precursor Variant 31     myonectin2
Complement-C1q Tumor Necrosis Factor-Related Protein 51     LORD5

External Ids:    HGNC: 143441   Entrez Gene: 1149022   Ensembl: ENSG000002239537   OMIM: 6087525   UniProtKB: Q9BXJ03   

Export aliases for C1QTNF5 gene to outside databases

Previous GC identifers: GC11U990608 GC11M120721 GC11M118747 GC11M118715 GC11M115151


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 tumor necrosis factor related protein 5) is a protein-coding gene. Diseases associated with C1QTNF5 include late-onset retinal degeneration, and retinal degeneration, late-onset, autosomal dominant. An important paralog of this gene is C1QTNF6.

Gene Wiki entry for C1QTNF5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C1QTNF5 gene promoter:
         STAT1   HTF   MyoD   C/EBPalpha   Egr-4   CREB   S8   POU2F1   deltaCREB   POU2F1a   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C1QTNF5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C1QTNF5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q23.3   Ensembl cytogenetic band:  11q23.3   HGNC cytogenetic band: 11q23.3

C1QTNF5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C1QTNF5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M119243:  view genomic region     (about GC identifiers)

Start:
119,209,652 bp from pter      End:
119,217,383 bp from pter
Size:
7,732 bases      Orientation:
minus strand

1 alternative location:
Chr11- 119,209,652-119,217,368     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: C1QT5_HUMAN, Q9BXJ0 (See protein sequence)
Recommended Name: Complement C1q tumor necrosis factor-related protein 5 precursor  
Size: 243 amino acids; 25298 Da
Subunit: May interact with FAM132B (By similarity). Homotrimer (via collagen-like domain). May form higher order
oligomers by supercoiling of the trimers
Subcellular location: Secreted (Probable)
Miscellaneous: This protein is produced by a bicistronic gene which also produces the MFRP protein from a
non-overlapping reading frame
1 PDB 3D structure from and Proteopedia for C1QTNF5:
4F3J (3D)    
Secondary accessions: A6NDD3 B0YJ35 Q335M2 Q8N6P2 Q9UFX4

Explore the universe of human proteins at neXtProt for C1QTNF5: NX_Q9BXJ0

Explore proteomics data for C1QTNF5 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXJ0

  • C1QTNF5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C1QTNF5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001265360.1  NP_056460.1  

    ENSEMBL proteins: 
     ENSP00000431140   ENSP00000402389  

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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for C1QTNF5 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005581collagen IEA--

    C1QTNF5 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    3 InterPro protein domains:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry Q9BXJ0

    ProtoNet protein and cluster: Q9BXJ0

    2 Blocks protein domains:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat


    UniProtKB/Swiss-Prot: C1QT5_HUMAN, Q9BXJ0
    Similarity: Contains 1 C1q domain
    Similarity: Contains 1 collagen-like domain


    C1QTNF5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    C1QTNF5 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C1QTNF5:
     Increased gamma-H2AX phosphory 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for C1qtnf5):
     cardiovascular system  nervous system  normal  pigmentation  vision/eye 

    C1QTNF5 for phenotypes           About GeneDecksing

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for C1QTNF5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for C1QTNF5 (Q9BXJ03 ENSP000004023894) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SLC2A4P146723I2D: score=2 
    MFRPENSP000003916644STRING: ENSP00000391664
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C1QTNF5 (C1QT5)

    Search CenterWatch for drugs/clinical trials and news about C1QTNF5 / C1QT5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C1QTNF5 gene (2 alternative transcripts): 
    NM_001278431.1  NM_015645.4  

    Unigene Cluster for C1QTNF5:

    C1q and tumor necrosis factor related protein 5
    Hs.632102  [show with all ESTs]
    Unigene Representative Sequence: BC036675
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000525657 ENST00000528368 ENST00000445041
    miRNA
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    Inhib. RNA
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat C1QTNF5
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat C1QTNF5

    Additional mRNA sequence: 

    AB055505.1 AF086482.1 AF329841.1 AJ862823.1 AK055132.1 AK295203.1 AL110261.1 AY358383.1 
    BC029485.1 BC036675.1 

    6 DOTS entries:

    DT.411344  DT.95170481  DT.92418575  DT.100744595  DT.95170478  DT.100020201 

    24/96 AceView cDNA sequences (see all 96):

    NM_015645 BM966810 NM_031433 BM544255 BM924569 BM021127 CK904254 BM893691 
    CA397875 AL110261 CA390714 AF086482 AI924106 AI564511 BM547549 BM052913 
    CF994392 AB055505 BM966954 BM673416 AW190639 BM719761 BM722889 BU742804 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C1QTNF5 expression in normal human tissues (normalized intensities)      C1QTNF5 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GGGCAGTGGC
    C1QTNF5 Expression
    About this image


    C1QTNF5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/1 selected tissues (see all 1) fully expand
     
     Brain (Nervous System)
             Choroid Plexus

    See C1QTNF5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C1QTNF5

    SOURCE GeneReport for Unigene cluster: Hs.632102
        SABiosciences Custom PCR Arrays for C1QTNF5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for C1QTNF5

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C1QTNF5 gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C1qtnf51 , 5 C1q and tumor necrosis factor related protein 51, 5 85.87(n)1
    93.83(a)1
      9 (24.62 cM)5
    2353121  NM_145613.41  NP_663588.21 
     441072455 
    chicken
    (Gallus gallus)
    Aves C1QTNF51 C1q and tumor necrosis factor related protein 5 73.11(n)
    73.66(a)
      769989  XM_001232466.2  XP_001232467.2 
    lizard
    (Anolis carolinensis)
    Reptilia C1QTNF56
    Uncharacterized protein
    70(a)
    1 ↔ 1
    GL343797.1(23219-34830)
    zebrafish
    (Danio rerio)
    Actinopterygii wufb02f052 Transcribed sequence with weak similarity to protein more 73.67(n)    BI705095.1 


    ENSEMBL Gene Tree for C1QTNF5 (if available)
    TreeFam Gene Tree for C1QTNF5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C1QTNF5 gene
    C1QTNF62  COL10A12  C1QB2  C1QTNF12  C1QTNF9B2  C1QA2  C1QTNF42  COL8A22  
    C1QTNF92  COL8A12  OTOL12  C1QTNF82  C1QTNF72  C1QC2  C1QTNF22  ADIPOQ2  
    4 SIMAP similar genes for C1QTNF5 using alignment to 1 protein entry:     C1QT5_HUMAN:
    OTOL1    C1QC    ADIPOQ    C1QL3

    C1QTNF5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    2 SNPs in C1QTNF5 are shown    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0326294
    Late-onset retinal degeneration (LORD)4--see VAR_0326292 S R mis40--------
    VAR_0326284
    ----see VAR_0326282 Q R mis40--------

    HapMap Linkage Disequilibrium report for C1QTNF5 (119209652 - 119217383 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for C1QTNF5:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv898417CNV Loss21882294
    nsv898418CNV Loss21882294
    nsv826103CNV Gain20364138


    Human Gene Mutation Database (HGMD): C1QTNF5
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing C1QTNF5
    DNA2.0 Custom Variant and Variant Library Synthesis for C1QTNF5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 608752   
    OMIM disorders: 605670  
    UniProtKB/Swiss-Prot: C1QT5_HUMAN, Q9BXJ0
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 14 diseases for C1QTNF5:    About MalaCards
    late-onset retinal degeneration    retinal degeneration, late-onset, autosomal dominant    isolated microphthalmia 5    spastic hemiplegia
    hemiplegia    retinal degeneration    chorioretinitis    age related macular degeneration
    macular degeneration    night blindness    blindness    retinitis
    choroiditis    spasticity


    C1QTNF5 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for C1QTNF5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinal degeneration 76.2 1 12944416 (1)

    Genetic Association Database (GAD): C1QTNF5
    Human Genome Epidemiology (HuGE) Navigator: C1QTNF5 (2 documents)

    Export disorders for C1QTNF5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C1QTNF5 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with C1QTNF5)
        Utopia: connect your pdf to the dynamic
    world of online information

    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. (PubMed id 12944416)1, 2, 3, 9 Hayward C.... Wright A.F. (2003)
    2. Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration. (PubMed id 22892318)1, 2 Tu X. and Palczewski K. (2012)
    3. Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study. (PubMed id 18842294)1, 4 Ennis S....Lotery A. (2008)
    4. Genetic risk for metabolic syndrome: examination of candidate gene polymorphisms related to lipid metabolism in Japanese people. (PubMed id 17766366)1, 4 Yamada Y....Nozawa Y. (2008)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (2004)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)
    8. Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation. (PubMed id 16123441)1, 9 Ayyagari R....Sieving P.A. (2005)
    9. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PubMed id 16376663)1, 9 Subrayan V....Dhillon B. (2005)
    10. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). (PubMed id 23289492)1 Soumplis V....Webster A.R. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 114902 HGNC: 14344 AceView: C1QTNF5andMFRP Ensembl:ENSG00000223953 euGenes: HUgn114902
    ECgene: C1QTNF5 H-InvDB: C1QTNF5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for C1QTNF5 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for C1QTNF5 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for C1QTNF5 gene:
    Search GeneIP for patents involving C1QTNF5

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