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

COL18A1 Gene

protein-coding   GIFtS: 68
GCID: GC21P046825

Collagen, Type XVIII, Alpha 1

(Previous names: Knobloch syndrome, type 1)
(Previous symbol: KNO)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
About This Section

Aliases
Collagen, Type XVIII, Alpha 11 2     Human Type XVIII Collagen11
KNO1 2     KS2
endostatin1 2     Antiangiogenic Agent2
KNO12 5     Collagen Alpha-1(XVIII) Chain2
Knobloch Syndrome, Type 11     Multi-Functional Protein MFP2

External Ids:    HGNC: 21951   Entrez Gene: 807812   Ensembl: ENSG000001828717   OMIM: 1203285   UniProtKB: P390603   

Export aliases for COL18A1 gene to outside databases

Previous GC identifers: GC21P043334 GC21P045681 GC21P045649 GC21P032201


(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 COL18A1 Gene:
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular
matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous
domains. The proteolytically produced C-terminal fragment of type XVIII collagen is endostatin, a potent
antiangiogenic protein. Mutations in this gene are associated with Knobloch syndrome. The main features of this
syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure
and in neural tube closure. Alternatively spliced transcript variants encoding different isoforms have been found
for this gene. (provided by RefSeq, Sep 2008)

GeneCards Summary for COL18A1 Gene: 
COL18A1 (collagen, type XVIII, alpha 1) is a protein-coding gene. Diseases associated with COL18A1 include knobloch syndrome, and encephalocele, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. GO annotations related to this gene include structural molecule activity and identical protein binding. An important paralog of this gene is COL15A1.

UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of
the neural tube
Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis
by binding to the heparan sulfate proteoglycans involved in growth factor signaling

Gene Wiki entry for COL18A1 (Collagen, type XVIII, alpha 1) 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, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
About This Section
RefSeq DNA sequence:
NC_000021.8  NT_011515.12  NC_018932.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL18A1 gene promoter:
         p53   STAT3   NF-kappaB   NF-kappaB1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL18A1 promoter sequence

   Search SABiosciences Chromatin IP Primers for COL18A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL18A1


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
COL18A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL18A1 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P046825:   GeneLoc Nature:405,311-319
Start:
46,825,052 bp from pter       32,384,934 bp from centromere
End:
46,933,634 bp from pter 32,443,158 bp from centromere
Size:
108,583 bases 58,225 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: AF018081
genomic clones: P310E12 BAC-53I10


(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: COIA1_HUMAN, P39060 (See protein sequence)
Recommended Name: Collagen alpha-1(XVIII) chain precursor  
Size: 1754 amino acids; 178188 Da
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
3 PDB 3D structures from and Proteopedia for COL18A1:
1BNL (3D)        3HON (3D)        3HSH (3D)    
Secondary accessions: A8MVI4 Q58EX6 Q6RZ39 Q6RZ40 Q6RZ41 Q8N4S4 Q8WXI5 Q96T70 Q9UK38 Q9Y6Q7
Q9Y6Q8
Alternative promoter usage, Alternative splicing: 3 isoforms:  P39060-3   P39060-1   P39060-2   (Produced by alternative promoter usage)

Explore the universe of human proteins at neXtProt for COL18A1: NX_P39060

Explore proteomics data for COL18A1 at MOPED 

Post-translational modifications:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P39060

  • COL18A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL18A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_085059.2  NP_569712.2  

    ENSEMBL proteins: 
     ENSP00000383191   ENSP00000347665   ENSP00000339118   ENSP00000415692   ENSP00000352798  
    Reactome Protein details: P39060
    Human Recombinant Protein Products for COL18A1: 
    EMD Millipore Purified and/or Recombinant COL18A1 Protein
    R&D Systems Recombinant & Natural Proteins for COL18A1 (Endostatin)
    Enzo Life Sciences proteins for COL18A1
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for COL18A1
    GenScript Purified and Recombinant Proteins for COL18A1
    Novus Biologicals COL18A1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for COL18A1
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IDA--
    GO:0005788endoplasmic reticulum lumen TAS--

    COL18A1 for ontologies           About GeneDecksing



    COL18A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL18A1
    R&D Systems Antibodies for COL18A1 (Endostatin)
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    LSBio Antibodies in human, mouse, rat for COL18A1 

    Assay Products for COL18A1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    COLLAGEN: Collagens

    5/9 InterPro protein domains (see all 9):
     IPR026917 COL18A1
     IPR001791 Laminin_G
     IPR020067 Frizzled_dom
     IPR016187 C-type_lectin_fold
     IPR010515 Collagenase_NC10/endostatin

    Graphical View of Domain Structure for InterPro Entry P39060

    ProtoNet protein and cluster: P39060

    5 Blocks protein domains:
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat
    IPB010515 Collagenase NC10 and endostatin


    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
    Similarity: Belongs to the multiplexin collagen family
    Similarity: Contains 1 FZ (frizzled) domain
    Similarity: Contains 1 laminin G-like domain


    COL18A1 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

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COIA1_HUMAN, P39060
    Function: COLA18A probably plays a major role in determining the retinal structure as well as in the closure of
    the neural tube
    Function: Endostatin potently inhibits endothelial cell proliferation and angiogenesis. May inhibit angiogenesis
    by binding to the heparan sulfate proteoglycans involved in growth factor signaling

         Genatlas biochemistry entry for COL18A1:
    collagen,type XVIII,alpha 1,multiplexin family with interrupted helical domain

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity IEA--
    GO:0005515protein binding IPI17615292
    GO:0042802identical protein binding IPI16269408
    GO:0046872metal ion binding IEA--
         
    COL18A1 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Col18a1):
     cardiovascular system  craniofacial  homeostasis/metabolism  nervous system  other 
     renal/urinary system  skeleton  tumorigenesis  vision/eye 

    COL18A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for COL18A1: Col18a1tm1(KOMP)Vlcg Col18a1tm1Hms

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL18A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL18A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL18A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL18A1 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL18A1
    6 QIAGEN miScript miRNA Assays for microRNAs that regulate COL18A1:
    hsa-miR-9 hsa-miR-526b hsa-miR-516a-3p hsa-miR-516b* hsa-miR-578 hsa-miR-3159
    SwitchGear 3'UTR luciferase reporter plasmidCOL18A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL18A1
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of COL18A1

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
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    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): COL18A1 (NM_030582)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1

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    Search LifeMap BioReagents cell lines for COL18A1
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1


    (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

    SuperPaths for COL18A1 About   (see all 9)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.79
    Degradation of collagen0.79
    5PTEN Pathway
    PTEN Pathway0.56
    Phospholipase-C Pathway0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for COL18A1
        Selected targets of p53

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL18A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    2 BioSystems Pathways for COL18A1
        Direct p53 effectors
    FOXA1 transcription factor network

    5/6        Reactome Pathways for COL18A1 (see all 6)
        Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Degradation of the extracellular matrix
    Collagen formation


    1         Kegg Pathway  (Kegg details for COL18A1):
        Protein digestion and absorption


    COL18A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL18A1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/66 Interacting proteins for COL18A1 (P390601, 3 ENSP000003527984) via UniProtKB, MINT, STRING, and/or I2D (see all 66)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TECPR1Q7Z6L13, ENSP000004049234I2D: score=3 STRING: ENSP00000404923
    KDRP359683, ENSP000002639234I2D: score=1 STRING: ENSP00000263923
    TGM2P219801, ENSP000003553304EBI-2566375,EBI-727668 STRING: ENSP00000355330
    NCLP193381, ENSP000003181954EBI-2566375,EBI-346967 STRING: ENSP00000318195
    APPP050671EBI-2566375,EBI-821758
    About this table

    Gene Ontology (GO): 5/12 biological process terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0001886endothelial cell morphogenesis IEA--
    GO:0007155cell adhesion IEA--
    GO:0007601visual perception TAS10942434
    GO:0008284positive regulation of cell proliferation IEA--

    COL18A1 for ontologies           About GeneDecksing



    (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 COL18A1 (COIA1)

    Search CenterWatch for drugs/clinical trials and news about COL18A1 / COIA1

    (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 COL18A1 gene (3 alternative transcripts): 
    NM_030582.3  NM_130445.2  NM_130444.2  

    Unigene Cluster for COL18A1:

    Collagen, type XVIII, alpha 1
    Hs.517356  [show with all ESTs]
    Unigene Representative Sequence: AF018081
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400337(uc002zhg.3) ENST00000355480(uc002zhi.3) ENST00000342220(uc002zhj.3 uc002zhk.3)
    ENST00000459895 ENST00000423214 ENST00000473212 ENST00000359759

    miRNA
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    6 QIAGEN miScript miRNA Assays for microRNAs that regulate COL18A1:
    hsa-miR-9 hsa-miR-526b hsa-miR-516a-3p hsa-miR-516b* hsa-miR-578 hsa-miR-3159
    SwitchGear 3'UTR luciferase reporter plasmidCOL18A1 3' UTR sequence
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    Additional mRNA sequence: 

    AF018081.1 AF018082.1 AF184060.1 AF333246.1 AF333247.1 AF416592.1 AK098216.1 AK130835.1 
    AK311062.1 BC033715.1 BC063833.1 

    19 DOTS entries:

    DT.447571  DT.92001135  DT.91912586  DT.95302146  DT.121139495  DT.101985460  DT.100039632  DT.99986442 
    DT.95220877  DT.92436231  DT.100034049  DT.100039626  DT.40116647  DT.100039627  DT.95090195  DT.95349603 
    DT.100798481  DT.91744920  DT.99955859 

    24/195 AceView cDNA sequences (see all 195):

    AA350512 BG106854 AA069352 NM_194255 BQ003811 BE881571 AW137045 AI814596 
    AI076853 AI738703 F02853 AW298029 BU680493 CA426982 BU502539 AA743360 
    T28473 AI970756 AA731506 AI074505 AA350511 AA470378 AA913825 AI660746 

    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

    COL18A1 expression in normal human tissues (normalized intensities)      COL18A1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAATCCTCAA
    COL18A1 Expression
    About this image


    COL18A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/23 selected tissues (see all 23) fully expand
     
     Brain (Nervous System)    fully expand to see all 20 entries
             Thalamus
             Olfactory Bulb   
     
     Nose (Sensory Organs)    fully expand to see all 5 entries
             sensory organ/nose   
     
     Tooth
             visceral organ/oral region/upper jaw   
     
     Heart (Cardiovascular System)    fully expand to see all 4 entries
             Primitive Heart Tube Cells Primitive Heart Tube
             heart/atrium   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 3 entries
             Ureter
             visceral organ/bladder   

    See COL18A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL18A1

    SOURCE GeneReport for Unigene cluster: Hs.517356

    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
    Tissue specificity: Present in multiple organs with highest levels in liver, lung and kidney

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL18A1: 
              Endothelial Cell Biology in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL18A1
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1

    (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 animals.

    Orthologs for COL18A1 gene from 6/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col18a11 , 5 collagen, type XVIII, alpha 11, 5 75.75(n)1
    75.91(a)1
      10 (39.72 cM)5
    128221  NM_001109991.11  NP_001103461.11 
     770521785 
    chicken
    (Gallus gallus)
    Aves COL18A11 collagen, type XVIII, alpha 1 65.23(n)
    63.75(a)
      373978  NM_204164.1  NP_989495.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL18A16
    --
    (see all 3)
    Uncharacterized protein
    (see all 3)
    58(a)
    17(a)
    (see all 3)
    1 ↔ 1
    possible ortholog
    (see all 3)
    1(90395003-90458517)
    GL344800.1(6970-8655)
    African clawed frog
    (Xenopus laevis)
    Amphibia AB047066.12   -- 74.53(n)    AB047066.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AJ494837.12   -- 75.34(n)   360140  AJ494837.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta mp1 multiplexin 49.87(n)
    45.29(a)
      38769  NM_001169887.2  NP_001163358.1 


    ENSEMBL Gene Tree for COL18A1 (if available)
    TreeFam Gene Tree for COL18A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL18A1 gene
    COL15A12  
    1 SIMAP similar gene for COL18A1 using alignment to 6 protein entries:     COIA1_HUMAN (see all proteins):
    COLQ

    COL18A1 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

    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
    Polymorphism: There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous
    Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous
    Asp-1675 individuals


    10/3734 SNPs in COL18A1 are shown (see all 3734)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs124833771,2,4
    C,F,Hpathogenic146931109(+) CCTTTG/AACGGC 4 /N /D mis1 ese331Minor allele frequency- A:0.04NA NS EA MN EU 3505
    rs1911348801,2
    --46823185(+) CCCTGC/TCCCAG 1 -- us2k10--------
    rs1467271841,2
    --46823307(+) ATGGGG/TTGGGT 1 -- us2k10--------
    rs1403673981,2
    C--46823339(+) GGCAGA/GTGAGA 1 -- us2k10--------
    rs124825791,2
    H--46823369(+) CTGCAC/GTGCAG 1 -- us2k14Minor allele frequency- G:0.00NS EA 416
    rs786019091,2
    C,F--46823375(+) TGCAGG/CGTTAA 1 -- us2k12Minor allele frequency- C:0.04CSA WA 120
    rs758842651,2
    C,F--46823382(+) TTAATG/TGACAG 1 -- us2k12Minor allele frequency- T:0.04CSA WA 120
    rs1833174191,2
    --46823512(+) ACAGAA/CACACA 1 -- us2k10--------
    rs1396933531,2
    C--46823544(+) GAGAG-/ACAT  
      GCACAC
    ACATG
    1 -- us2k10--------
    rs1868512501,2
    --46823702(+) TGTGCA/GATGAC 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL18A1 (46825052 - 46933634 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/74 variations for COL18A1 (see all 74):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2723773CNV Deletion23290073
    esv2723784CNV Deletion23290073
    esv2723770CNV Deletion23290073
    dgv764e201CNV Deletion23290073
    esv2660971CNV Deletion23128226
    esv2570683CNV Deletion19546169
    esv2723753CNV Deletion23290073
    esv2723765CNV Deletion23290073
    esv2723781CNV Deletion23290073
    esv2723771CNV Deletion23290073


    Human Gene Mutation Database (HGMD): COL18A1
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL18A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL18A1

    (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: 120328   
    OMIM disorders: 267750  
    UniProtKB/Swiss-Prot: COIA1_HUMAN, P39060
  • Knobloch syndrome 1 (KNO1) [MIM:267750]: A developmental disorder primarily characterized by typical eye
    abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal
    detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/59 diseases for COL18A1 (see all 59):    About MalaCards
    knobloch syndrome    encephalocele    encephaloceles    knobloch syndrome type i
    occipital encephalocele    funisitis    vitreoretinal degeneration    diabetes, type 2
    retinal detachment    rhabdoid tumor    bronchopulmonary dysplasia    hepatopulmonary syndrome
    cerebral malaria    retinitis    traumatic brain injury    brain injury
    myopia    clear cell renal cell carcinoma    breast cancer susceptibility    hypertriglyceridemia

    1 disease from the University of Copenhagen DISEASES database for COL18A1:
    Lung cancer

    COL18A1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for COL18A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    knobloch syndrome 98.5 6 19390655 (2), 14695535 (1), 17546652 (1), 18484314 (1) (see all 5)
    occipital encephalocele 81.6 1 15857886 (1)
    tumors 0 1 20212451 (1)

    Genetic Association Database (GAD): COL18A1
    Human Genome Epidemiology (HuGE) Navigator: COL18A1 (19 documents)
    Tumor Gene Database (TGDB): COL18A1

    Export disorders for COL18A1 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 COL18A1 gene, integrated from 9 sources (see all 146) (see top 10):
    (articles sorted by number of sources associating them with COL18A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Collagen XVIII, containing an endogenous inhibitor of angiogenesis and tumor growth, plays a critical role in the maintenance of retinal structure and in neural tube closure. (PubMed id 10942434)1, 2, 3, 9 Sertie A.L....Passos-Bueno M.R. (2000)
    2. Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to mouse chromosome 10 and human chromosome 21. (PubMed id 8188291)1, 2, 3, 9 Oh S.P....Olsen B.R. (1994)
    3. Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin. (PubMed id 14695535)1, 2, 9 Menzel O.... Guipponi M. (2004)
    4. A pooling-based genome-wide analysis identifies new p otential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). (PubMed id 19961619)1, 4, 9 Castro-Giner F....de Cid R. (2009)
    5. A high risk of occurrence of sporadic breast cancer in individuals with the 104NN polymorphism of the COL18A1 gene. (PubMed id 16807676)1, 4, 9 Lourenco G.J....Lima C.S. (2006)
    6. CNS malformations in Knobloch syndrome with splice mutation in COL18A1 gene. (PubMed id 17546652)1, 3, 9 Keren B....Verloes A. (2007)
    7. Genetic Risk Factors for Hepatopulmonary Syndrome in Patients With Advanced Liver Disease. (PubMed id 20346360)1, 4 Roberts K.E....Fallon M.B. (2010)
    8. MicroRNA-related genetic variations as predictors for risk of second primary tumor and/or recurrence in patients with early-stage he ad and neck cancer. (PubMed id 20819778)1, 4 Zhang X....Wu X. (2010)
    9. Genetic susceptibility to distinct bladder cancer sub phenotypes. (PubMed id 19692168)1, 4 Guey L.T....Malats N. (2010)
    10. Genetic variations in angiogenesis pathway genes asso ciated with clinical outcome in localized gastric adenocarcinoma. (PubMed id 19622587)1, 4 Lurje G....Lenz H.J. (2010)
    11. PTEN identified as important risk factor of chronic o bstructive pulmonary disease. (PubMed id 19625176)1, 4 Hosgood H.D....Lan Q. (2009)
    12. Polymorphisms in innate immunity genes and lung cancer risk in Xuanwei, China. (PubMed id 19170196)1, 4 Shen M....Lan Q. (2009)
    13. Polymorphism in endostatin, an angiogenesis inhibitor, and prostate cancer risk and survival: A prospective study. (PubMed id 19431146)1, 4 Mucci L.A....Kantoff P.W. (2009)
    14. Association between endometriosis and polymorphisms in endostatin and vascular endothelial growth factor and their serum levels in Korean women. (PubMed id 17482599)1, 4 Kim J.G....Choi Y.M. (2008)
    15. Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway. (PubMed id 18676680)1, 4 Hosgood H.D....Lan Q. (2008)
    16. COL18A1 is highly expressed during human adipocyte differentiation and the SNP c.1136C > T in its 'frizzled' motif is associated with obesity in diabetes type 2 patients. (PubMed id 18345385)1, 4 Errera F.I....Passos-Bueno M.R. (2008)
    17. Candidate gene and locus analysis of myopia. (PubMed id 17653045)1, 4 Mutti D.O....Zadnik K. (2007)
    18. Endostatin gene variation and protein levels in breast cancer susceptibility and severity. (PubMed id 17587451)1, 4 Balasubramanian S.P....Reed M.W. (2007)
    19. Endostatin polymorphism 4349G/A(D104N) is not associated with aggressiveness of disease in prostate [corrected] cancer. (PubMed id 15735323)1, 4 Li H.C....Lu B. (2005)
    20. Genotyping and functional analysis of the D104N variant of human endostatin. (PubMed id 15662127)1, 4 Macpherson G.R....Figg W.D. (2004)
    21. 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)
    22. Assocation of endostatin D104N with leukemia. (PubMed id 12693719)1, 4 Liu T.C....Chang J.G. (2003)
    23. Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif. (PubMed id 14614989)1, 2 Elamaa H.... Pihlajaniemi T. (2003)
    24. A polymorphism in the angiogenesis inhibitor, endostatin, in multiple myeloma. (PubMed id 12479859)1, 4 Ortega M.M....Lima C.S. (2003)
    25. Inhibition effect in vitro of purified endostatin expressed in Pichia pastoris. (PubMed id 11517600)1, 2 Feng Y.... Ma Q.J. (2001)
    26. A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma. (PubMed id 11606364)1, 2 Iughetti P.... Passos-Bueno M.R. (2001)
    27. The DNA sequence of human chromosome 21. (PubMed id 10830953)1, 2 Hattori M....Yaspo M.L. (2000)
    28. Zinc-dependent dimers observed in crystals of human endostatin. (PubMed id 9724722)1, 2 Ding Y.-H.... Wiley D.C. (1998)
    29. Complete primary structure of two variant forms of human type XVIII collagen and tissue-specific differences in the expression of the corresponding transcripts. (PubMed id 9503365)1, 2 Saarela J.... Pihlajaniemi T. (1998)
    30. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3. (PubMed id 8776601)1, 3 Sertie A.L....Passos-Bueno M.R. (1996)
    31. Novel pathogenic mutations and skin biopsy analysis in Knobloch syndrome. (PubMed id 19390655)1, 9 Suzuki O....Passos-Bueno M.R. (2009)
    32. Molecular analysis of collagen XVIII reveals novel mutations, presence of a third isoform, and possible genetic heterogeneity in Knobloch syndrome. (PubMed id 12415512)1, 9 Suzuki O.T....Passos-Bueno M.R. (2002)
    33. Pharmacogenetic angiogenesis profiling for first-line chemotherapy in patients with advanced gastric cancer. (PubMed id 23641912)1 Dan S....Zhi-Yuan M. (2013)
    34. Correlations between serum levels of vascular endothel ial growth factor and endostatin with clinical pathological characteristics of p atients with gastrointestinal cancers. (PubMed id 22819906)1 Li M....Zhao Y. (2012)
    35. A 3' UTR SNP in COL18A1 is associated with susceptibil ity to HBV related hepatocellular carcinoma in Chinese: three independent case-c ontrol studies. (PubMed id 22461898)1 Wu X....Liu Y. (2012)
    36. Inhibition of Wnt/b-catenin signaling by a soluble col lagen-derived frizzled domain interacting with Wnt3a and the receptors frizzled 1 and 8. (PubMed id 22303445)1 Hendaoui I....Musso O. (2012)
    37. Transcription expression and clinical significance of vascular endothelial growth factor mRNA and endostatin mRNA in pleural effusions of patients with lung cancer. (PubMed id 22431315)1 Chen Y....Wu G.P. (2012)
    38. A role for collagen XXIII in cancer cell adhesion, anc horage-independence and metastasis. (PubMed id 21963851)1 Spivey K.A....Zetter B.R. (2012)
    39. Multiple loci influencing hippocampal degeneration ide ntified by genome scan. (PubMed id 22745009)1 Melville S.A....Farrer L.A. (2012)
    40. Serum endostatin levels correlate with enhanced extrac ellular matrix degradation and poor patients' prognosis in bladder cancer. (PubMed id 21815140)1 Szarvas T....Ergun S. (2012)
    41. Endostatin lowers blood pressure via nitric oxide and prevents hypertension associated with VEGF inhibition. (PubMed id 22733742)1 Sunshine S.B....Rupnick M. (2012)
    42. Osteopontin and endostatin concentrations in periphera l blood of patients with adrenal tumors undergoing unilateral adrenalectomy. (PubMed id 21968021)1 Stepien T....Komorowski J. (2011)
    43. Microdeformation of three-dimensional cultured fibrob lasts induces gene expression and morphological changes. (PubMed id 21233699)1 Lu F....Orgill D.P. (2011)
    44. Cysteine cathepsins S and L modulate anti-angiogenic activities of human endostatin. (PubMed id 21896479)1 Veillard F....Lalmanach G. (2011)
    45. Lack of collagen XVIII long isoforms affects kidney p odocytes, whereas the short form is needed in the proximal tubular basement mem brane. (PubMed id 21193414)1 Kinnunen A.I....Pihlajaniemi T. (2011)
    46. A DNA pooling-based case-control study of myopia cand idate genes COL11A1, COL18A1, FBN1, and PLOD1 in a Chinese population. (PubMed id 21527992)1 Yip S.P....Yap M.K. (2011)
    47. Effect of peritoneal dialysis on expression of vascula r endothelial growth factor, basic fibroblast growth factor and endostatin of th e peritoneum in peritoneal dialysis patients. (PubMed id 21771176)1 Gao D....Liu Z.S. (2011)
    48. Systemic blood osteopontin, endostatin, and E-selecti n concentrations after vertical banding surgery in severely obese adults. (PubMed id 21486700)1 Komorowski J....Stepien H. (2011)
    49. Effects of recombinant human endostatin on peritoneal angiogenesis in peritoneal dialysis rats. (PubMed id 21457400)1 Zhao Z.Z....Liang X.H. (2011)
    50. Deletion of the basement membrane heparan sulfate pro teoglycan type XVIII collagen causes hypertriglyceridemia in mice and humans. (PubMed id 21085708)1 Bishop J.R....Moulton K.S. (2010)
    51. Expression of endostatin mediated by a novel non-vira l delivery system inhibits human umbilical vein endothelial cells in vitro. (PubMed id 19585274)1 Zhang C....Wu C. (2010)
    52. Transglutaminase-2: a new endostatin partner in the e xtracellular matrix of endothelial cells. (PubMed id 20156196)1 Faye C....Ricard-Blum S. (2010)
    53. The effect of P2Y-mediated platelet activation on the release of VEGF and endostatin from platelets. (PubMed id 20063989)1 Bambace N.M....Holmes C.E. (2010)
    54. Prognostic relevance of collagen XVIII expression in metastatic gastric carcinoma. (PubMed id 20361288)1 Lee K.S....Hong Y.S. (2010)
    55. Expression of b-FGF and endostatin and their clinical significance in human osteosarcoma. (PubMed id 22009965)1 Xu C.J....Liu X.L. (2010)
    56. Network organization of the human autophagy system. (PubMed id 20562859)1 Behrends C....Harper J.W. (2010)
    57. Lack of collagen XVIII/endostatin exacerbates immune- mediated glomerulonephritis. (PubMed id 20616167)1 Hamano Y....Ueda S. (2010)
    58. Homozygosity mapping through whole genome analysis id entifies a COL18A1 mutation in an Indian family presenting with an autosomal re cessive neurological disorder. (PubMed id 19160445)1 PaisA!n-Ruiz C....Houlden H. (2009)
    59. Combined endostatin and TRAIL gene transfer suppresses human hepatocellular carcinoma growth and angiogenesis in nude mice. (PubMed id 19223770)1 Zhang Y....Sun W.S. (2009)
    60. Serum angiogenic factors in patients with neuroendocr ine tumors of abdominal organs. (PubMed id 20396759)1 Polikarpova S.B....Davidov M.I. (2009)
    61. The heparin binding motif of endostatin mediates its interaction with receptor nucleolin. (PubMed id 19877579)1 Fu Y....Luo Y. (2009)
    62. [Clinical significance of serum levels of endostatin in patients with clear cell renal cell carcinoma] (PubMed id 19615205)1 Guan K.P....Li C.L. (2009)
    63. The first draft of the endostatin interaction network . (PubMed id 19542224)1 Faye C....Ricard-Blum S. (2009)
    64. Sustained delivery of endostatin improves the efficacy of therapy in Lewis lung cancer model. (PubMed id 19084038)1 Wu J....Hu Y. (2009)
    65. Airway concentrations of angiopoietin-1 and endostatin in ventilated extremely premature infants are decreased after funisitis and unbalanced with bronchopulmonary dysplasia/death. (PubMed id 19127216)1 Thomas W....Speer C.P. (2009)
    66. Crystal structure of human collagen XVIII trimerizati on domain: A novel collagen trimerization Fold. (PubMed id 19631658)1 Boudko S.P....BAochinger H.P. (2009)
    67. Endostatin, placental growth factor, and fibroblast g rowth factors-1 and -2 in the sera of patients with primary osteosarcomas. (PubMed id 20027339)1 Babkina I.V....Kushlinsky N.E. (2009)
    68. Endostatin induces autophagy in endothelial cells by modulating Beclin 1 and beta-catenin levels. (PubMed id 19298526)1 Nguyen T.M....Ramakrishnan S. (2009)
    69. Endostatin and angiostatin are increased in diabetic patients with coronary artery disease and associated with impaired coronary collateral formation. (PubMed id 19074676)1 Sodha N.R....Sellke F.W. (2009)
    70. Expression and secretion of endostatin in thyroid cancer. (PubMed id 18818971)1 Hoffmann S....Zielke A. (2008)
    71. High level of endostatin in epididymal epithelium: protection against primary malignancies in this organ? (PubMed id 18478248)1 Tilki D....Ergun S. (2008)
    72. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)1 Barbe L....Andersson-Svahn H. (2008)
    73. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. (PubMed id 18987736)2 Ley T.J.... Wilson R.K. (2008)
    74. A polymorphism in the angiogenesis inhibitor, endostatin, in lung cancer susceptibility. (PubMed id 18054814)1 Zambon L....Lima C.S. (2008)
    75. A cryptic frizzled module in cell surface collagen 18 inhibits Wnt/beta-catenin signaling. (PubMed id 18382662)1 Quelard D....Musso O. (2008)
    76. Expression pattern and circulating levels of endostatin in patients with pancreas cancer. (PubMed id 18360823)1 Ohlund D....Sund M. (2008)
    77. Voltage-dependent anion channel 1 is involved in endostatin-induced endothelial cell apoptosis. (PubMed id 18381814)1 Yuan S....Luo Y. (2008)
    78. Contributions of Zn(II)-binding to the structural stability of endostatin. (PubMed id 17544408)1 Han Q....Luo Y. (2007)
    79. Nucleolin is a receptor that mediates antiangiogenic and antitumor activity of endostatin. (PubMed id 17615292)1 Shi H....Luo Y. (2007)
    80. Endogenous endostatin inhibits choroidal neovascularization. (PubMed id 17526870)1 Marneros A.G....Olsen B.R. (2007)
    81. D104N polymorphism in endostatin, an angiogenesis inhibitor, in acute and chronic myeloid leukaemia. (PubMed id 17067672)1 Nascimento H....Lima C.S. (2007)
    82. Endostatin variations in childhood acute lymphoblastic leukaemia--comparison with basic fibroblast growth factor and vascular endothelial growth factor. (PubMed id 17011029)1 Schneider P....Vannier J.P. (2007)
    83. Endostatin binding to ovarian cancer cells inhibits peritoneal attachment and dissemination. (PubMed id 18006826)1 Yokoyama Y....Ramakrishnan S. (2007)
    84. Pretreatment serum endostatin as a prognostic indicator in metastatic gastric carcinoma. (PubMed id 16998835)1 Woo I.S....Chung I.S. (2006)
    85. Deficiency of disulfide bonds facilitating fibrillogen esis of endostatin. (PubMed id 16269408)1 He Y....Luo Y. (2006)
    86. Endostatin/collagen XVIII accumulates in patients with traumatic brain injury. (PubMed id 16866623)1 Deininger M.H....Schluesener H.J. (2006)
    87. Moderate antiangiogenic activity by local, transgenic expression of endostatin in Rip1Tag2 transgenic mice. (PubMed id 16793908)1 Schaffhauser B....Christofori G. (2006)
    88. Protein kinase B inhibits endostatin-induced apoptosis in HUVECs. (PubMed id 16466644)1 Kang H.Y....Kim H.Y. (2006)
    89. [Inhibitory effect of endostatin mediated by lipofect in on transplanted ovarian cancer] (PubMed id 16008891)1 Wei Z.T....Sun W.S. (2005)
    90. Endostatin competes with bFGF for binding to heparin-like glycosaminoglycans. (PubMed id 15985216)1 Reis R.C....Coelho-Sampaio T. (2005)
    91. Endostatin's heparan sulfate-binding site is essential for inhibition of angiogenesis and enhances in situ binding to capillary-like structures in bone explants. (PubMed id 15694132)1 Gaetzner S....Felbor U. (2005)
    92. Increased endostatin/collagen XVIII expression correlates with elevated VEGF level and poor prognosis in hepatocellular carcinoma. (PubMed id 15605080)1 Hu T.H....Tai M.H. (2005)
    93. The influence of biomechanical parameters on the expression of VEGF and endostatin in the bone and joint system. (PubMed id 16320826)1 Pufe T....Tillmann B. (2005)
    94. Serum endostatin levels in patients with lung carcinoma. (PubMed id 16358965)1 Swidzinska E....Chyczewska E. (2005)
    95. Generation of biologically active endostatin fragments from human collagen XVIII by distinct matrix metalloproteases. (PubMed id 15950618)1 Heljasvaara R....Pihlajaniemi T. (2005)
    96. Increased serum levels of endostatin in patients with idiopathic pulmonary fibrosis. (PubMed id 16025479)1 Sumi M....Sekizawa K. (2005)
    97. Endostatin inhibits nitric oxide and diminishes VEGF and collagen XVIII in squamous carcinoma cells. (PubMed id 15540202)1 Hebert C....Sauk J.J. (2005)
    98. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1 Ota T.... Sugano S. (2004)
    99. E-selectin is required for the antiangiogenic activity of endostatin. (PubMed id 15148373)1 Yu Y....Milstone D.S. (2004)
    100. Overexpression of collagen XVIII is associated with poor outcome and elevated levels of circulating serum endostatin in non-small cell lung cancer. (PubMed id 15328173)1 Iizasa T....Fujisawa T. (2004)
    101. Inhibition of orthotopic human bladder tumor growth by lentiviral gene transfer of endostatin. (PubMed id 15014038)1 Kikuchi E....Bochner B.H. (2004)
    102. An endostatin-derived peptide interacts with integrins and regulates actin cytoskeleton and migration of endothelial cells. (PubMed id 14973128)1 Wickstrom S.A....Keski-Oja J. (2004)
    103. Endostatin/collagen XVIII--an inhibitor of angiogenesis--is expressed in cartilage and fibrocartilage. (PubMed id 15464359)1 Pufe T....Tillmann B.N. (2004)
    104. Raised plasma endostatin levels correlate inversely with breast cancer angiogenesis. (PubMed id 14732364)1 Teh S.H....O'Higgins N. (2004)
    105. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
    106. Hypoxia simultaneously inhibits endostatin production and stimulates vascular endothelial growth factor production by cultured human endometrial stromal cells. (PubMed id 15374730)1 Nasu K....Miyakawa I. (2004)
    107. Expression of collagen XVIII and MMP-20 in developing teeth and odontogenic tumors. (PubMed id 15296943)1 Vaananen A....Salo T. (2004)
    108. Human endostatin gene transfer, either naked or with liposome, has the same inhibitory effect on growth of mouse liver tumor cells in vivo. (PubMed id 15334690)1 Ma C.H....Sun W.S. (2004)
    109. Elevated serum concentrations of the angiogenesis inhibitor endostatin in preeclamptic women. (PubMed id 14519482)1 Hirtenlehner K....Knofler M. (2003)
    110. Human endostatin-derived synthetic peptides possess potent antiangiogenic properties in vitro and in vivo. (PubMed id 12581742)1 Cattaneo M.G....Vicentini L.M. (2003)
    111. Prolactin antagonist-endostatin fusion protein as a targeted dual-functional therapeutic agent for breast cancer. (PubMed id 12839947)1 Beck M.T....Chen W.Y. (2003)
    112. Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins. (PubMed id 12682293)1 Sudhakar A.... Kalluri R. (2003)
    113. High serum level of endostatin in multiple myeloma at diagnosis but not in the plateau phase after treatment. (PubMed id 14514474)1 Urbanska-Rys H. and Robak T. (2003)
    114. Pleural mesothelial cell (PMC) defense mechanisms against malignancy. (PubMed id 14760864)1 Nasreen N....Antony V.B. (2003)
    115. Circulating proangiogenic cytokines and angiogenesis inhibitor endostatin in untreated patients with chronic lymphocytic leukemia. (PubMed id 12857600)1 Gora-Tybor J....Robak T. (2003)
    116. Endostatin binds to the catalytic domain of matrix metalloproteinase-2. (PubMed id 12023034)1 Lee S.J....Lee S.T. (2002)
    117. The production of the endostatin precursor collagen XVIII in head and neck carcinomas is modulated by CBP2/Hsp47. (PubMed id 12174873)1 Ollins G.J....Sauk J.J. (2002)
    118. Increased levels of tissue endostatin in human malignant gliomas. (PubMed id 12231538)1 Morimoto T....Yamaguchi N. (2002)
    119. Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are expressed in specialized basement membranes. (PubMed id 11937714)1 Tomono Y....Ninomiya Y. (2002)
    120. Aberrant neuronal and paracellular deposition of endostatin in brains of patients with Alzheimer's disease. (PubMed id 12486154)1 Deininger M.H....Meyermann R. (2002)
    121. Collagen XVIII: a novel heparan sulfate proteoglycan associated with vascular amyloid depositions and senile plaques in Alzheimer's disease brains. (PubMed id 12408231)1 van Horssen J....Verbeek M.M. (2002)
    122. Accumulation of endostatin/collagenXVIII in brains of patients who died with cerebral malaria. (PubMed id 12458056)1 Deininger M.H....Schluesener H.J. (2002)
    123. Laminin modulates morphogenic properties of the collagen XVIII endostatin domain. (PubMed id 12237301)1 Javaherian K....Lo K.M. (2002)
    124. Serum levels of angiogenin, basic fibroblast growth factor and endostatin in patients receiving intensive chemotherapy for acute myelogenous leukemia. (PubMed id 12209593)1 Glenjen N....Bruserud O. (2002)
    125. Endostatin causes G1 arrest of endothelial cells through inhibition of cyclin D1. (PubMed id 11815623)1 Hanai J....Sukhatme V.P. (2002)
    126. Endostatin blocks vascular endothelial growth factor-mediated signaling via direct interaction with KDR/Flk-1. (PubMed id 12029087)1 Kim Y.M....Kwon Y.G. (2002)
    127. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
    128. Interaction of endostatin with integrins implicated in angiogenesis. (PubMed id 11158588)1 Rehn M....Vuori K. (2001)
    129. Endostatin inhibits angiogenesis by stabilization of newly formed endothelial tubes. (PubMed id 11911017)1 Ergun S....Folkman J. (2001)
    130. Cell surface glypicans are low-affinity endostatin receptors. (PubMed id 11336704)1 Karumanchi S.A....Sukhatme V.P. (2001)
    131. Hypoxia down-regulates endostatin production by human microvascular endothelial cells and pericytes. (PubMed id 11700031)1 Wu P....Yamamoto H. (2001)
    132. High serum endostatin levels in Down syndrome: implications for improved treatment and prevention of solid tumours. (PubMed id 11781696)1 Zorick T.S....Passos-Bueno M.R. (2001)
    133. Secreted cathepsin L generates endostatin from collagen XVIII. (PubMed id 10716919)1 Felbor U....Mothes W. (2000)
    134. Tropoelastin binding to fibulins, nidogen-2 and other extracellular matrix proteins. (PubMed id 10544250)1 Sasaki T....Timpl R. (1999)
    135. Endostatin: an endogenous inhibitor of angiogenesis and tumor growth. (PubMed id 9008168)1 O'Reilly M.S....Folkman J. (1997)
    136. Isolation and sequencing of cDNAs for proteins with multiple domains of Gly-Xaa-Yaa repeats identify a distinct family of collagenous proteins. (PubMed id 8183893)1 Oh S.P....Olsen B.R. (1994)
    137. Characterization of human collagen XVIII promoter 2: interaction of Sp1, Sp3 and YY1 with the regulatory region and a SNP that increases transcription in hepatocytes. (PubMed id 16229994)9 Armelin-Correa L.M....Passos-Bueno M.R. (2005)
    138. The promoter of the long variant of collagen XVIII, the precursor of endostatin, contains liver-specific regulatory elements. (PubMed id 11093745)9 Lietard J....Clement B. (2000)
    139. Persistence of fetal vasculature in a patient with Knobloch syndrome: potential role for endostatin in fetal vascular remodeling of the eye. (PubMed id 15465551)9 Duh E.J....Goldberg M.F. (2004)
    140. A phenotypic variant of Knobloch syndrome. (PubMed id 18484314)9 Williams T.A....Ainsworth J.R. (2008)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 80781 HGNC: 2195 AceView: SLC19A1 Ensembl:ENSG00000182871 euGenes: HUgn80781
    ECgene: COL18A1 Kegg: 80781 H-InvDB: COL18A1

    (According to HUGE)
    About This Section
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
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    About This Section
    NameDescription
    PharmGKB entry for COL18A1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL18A1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL18A1

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