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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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Aliases
for COL18A1 gene

(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


Summaries
for COL18A1 gene

(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


Genomic Views
for COL18A1 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 plasmid: COL18A1 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


Proteins
for COL18A1 gene

(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)
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for COL18A1
    GenScript Superior Antibodies for COL18A1
    Novus Biologicals COL18A1 Antibodies
    Abcam antibodies for COL18A1
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for COL18A1
    LSBio Antibodies in human, mouse, rat for COL18A1 

    Assay Products for COL18A1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COL18A1
    R&D Systems ELISAs for COL18A1 (Endostatin)         (see all)
    GenScript Custom Assay Services for COL18A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.

    Protein Domains /
    Families
    for COL18A1 gene

    (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


    Function
    for COL18A1 gene

    (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
    Products:            		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 plasmid: COL18A1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL18A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL18A1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for COL18A1
    Sirion Biotech Customized adenovirus for overexpression of COL18A1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for COL18A1 (see all 12)
    OriGene ORF clones in mouse, rat for COL18A1
    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

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for COL18A1
    Search LifeMap BioReagents cell lines for COL18A1
    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL18A1


    Pathways & Interactions
    for COL18A1 gene

    (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



    Drugs & Compounds
    for COL18A1 gene

    (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

    Transcripts
    for COL18A1 gene

    (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
    Products:             		 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 plasmid: COL18A1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL18A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL18A1
    Clone
    Products:             		 OriGene clones in human, mouse for COL18A1 (see all 12)
    OriGene ORF clones in mouse, rat for COL18A1
    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)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL18A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL18A1
    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL18A1

    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


    Expression
    for COL18A1 gene

    (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
    Products:    		OriGene qSTAR qPCR primer pairs in human, mouse for COL18A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL18A1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL18A1
    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
    for COL18A1 gene

    (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
    for COL18A1 gene

    (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



    Genomic Variants
    for COL18A1 gene

    (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

    Disorders / Diseases
    for COL18A1 gene

    (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

    Publications
    for COL18A1 gene

    (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):
    (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)

    External Searches for COL18A1 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing COL18A1 gene

    (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

    Other Databases showing COL18A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL18A1 gene

    (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 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

    Intellectual Property
    for COL18A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for COL18A1 gene:
    Search GeneIP for patents involving COL18A1

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



    Products
    for COL18A1 gene

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    About This Section

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