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C1QTNF5 Gene

protein-coding   GIFtS: 50
GCID: GC11M119217

C1q And Tumor Necrosis Factor Related Protein 5

  See C1QTNF5-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)
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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 GC11M119243 GC11M118747 GC11M118715 GC11M115151


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 retinal degeneration, late-onset, autosomal dominant, and taeniasis. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   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
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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 GC11M119217:  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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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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
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


See C1QTNF5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

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

ENSEMBL proteins: 
 ENSP00000431140   ENSP00000402389  

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antibodies-online proteins for C1QTNF5 (11 products) 

 
antibodies-online peptides for C1QTNF5

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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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


Find genes that share domains with C1QTNF5           About GenesLikeMe


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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     Gene Ontology (GO): 1 molecular function term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005515protein binding ----
     
Find genes that share ontologies with C1QTNF5           About GenesLikeMe


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 

Find genes that share phenotypes with C1QTNF5           About GenesLikeMe

Animal Models:
   genOway: Develop your customized and physiologically relevant rodent model for C1QTNF5

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
C1QT5_HUMAN, Q9BXJ0: Secreted (Probable)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
extracellular4
mitochondrion1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

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

Find genes that share ontologies with C1QTNF5           About GenesLikeMe


(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for C1QTNF5
Interactions:

    Search GeneGlobe Interaction Network 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
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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for 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,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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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
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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 

Selected AceView cDNA sequences (see all 96):

CA390714 AI783751 BU742804 BM966810 AL110261 BM684116 BM893587 BF724241 
BM021381 BM929480 BM052913 BM893691 AI619600 BM021127 BM544255 BM547549 
NM_031433 AB055505 CA397875 BM924569 CF994392 NM_015645 AI805087 AI924106 

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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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C1QTNF5 expression in normal human tissues (normalized intensities)
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
 
 Brain (Nervous System)
         Choroid Plexus
C1QTNF5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

C1QTNF5 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.632102
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(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)
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This gene was present in the common ancestor of chordates.

Orthologs for C1QTNF5 gene from Selected species (see all 11)    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_001190313.11  NP_001177242.11 
 441072455 
chicken
(Gallus gallus)
Aves C1QTNF51 C1q and tumor necrosis factor related protein 5 73.83(n)
75.44(a)
  769989  XM_001232466.3  XP_001232467.2 
lizard
(Anolis carolinensis)
Reptilia C1QTNF56
C1q and tumor necrosis factor related protein 5
70(a)
1 ↔ 1
GL343797.1(23219-34830)
tropical clawed frog
(Xenopus tropicalis)
Amphibia c1qtnf51 C1q and tumor necrosis factor related protein 5 56.85(n)
60.71(a)
  100490080  XM_002935019.2  XP_002935065.2 
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)
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Paralogs for C1QTNF5 gene
C1QTNF62  C1QB2  COL10A12  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

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(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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2 SNPs for C1QTNF5    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--------
rs115382451,2,4
----see VAR_0326282 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
Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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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

  • 4 diseases for C1QTNF5:    
    About MalaCards
    retinal degeneration, late-onset, autosomal dominant    taeniasis    late-onset retinal degeneration    retinal degeneration


    Find genes that share disorders with C1QTNF5           About GenesLikeMe

    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)
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    PubMed articles for C1QTNF5 gene, integrated from 10 sources (see all 33):
    (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. (Hum. Mol. Genet. 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. (J. Struct. Biol. 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. (Lancet 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. (J. Med. Genet. 2008)
    5. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)1, 2 Zhang Z. and Henzel W.J. (Protein Sci. 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. (Genome Res. 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. (Genome Res. 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. (amp 2005)
    9. Long anterior lens zonules in late-onset retinal degeneration (L-ORD). (PubMed id 16376663)1, 9 Subrayan V....Dhillon B. (Am. J. Ophthalmol. 2005)
    10. Phenotypic findings in C1QTNF5 retinopathy (late-onset retinal degeneration). (PubMed id 23289492)1 Soumplis V....Webster A.R. (Acta Ophthalmol 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 114902 HGNC: 14344 AceView: C1QTNF5andMFRP Ensembl:ENSG00000223953 euGenes: HUgn114902
    ECgene: C1QTNF5 H-InvDB: C1QTNF5

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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