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COL8A2 Gene

protein-coding   GIFtS: 56
GCID: GC01M036563

Collagen, Type VIII, Alpha 2


(Previous symbol: FECD)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen, Type VIII, Alpha 21 2     PPCD2
FECD1 2     Collagen Alpha-2(VIII) Chain2
Endothelial Collagen2 3     Collagen Type VIII Alpha 22
FECD12 5     Collagen VIII, Alpha-2 Polypeptide2
PPCD22 5     DJ665N4.1 (Collagen Type VIII Alpha 2)2

External Ids:    HGNC: 22161   Entrez Gene: 12962   Ensembl: ENSG000001718127   OMIM: 1202525   UniProtKB: P250673   

Export aliases for COL8A2 gene to outside databases

Previous GC identifers: GC01U990028 GC01M035616 GC01M035987 GC01M035988 GC01M036229 GC01M036333 GC01M034677


(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 COL8A2 Gene:
This gene encodes the alpha 2 chain of type VIII collagen. The protein is a major component of the basement
membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects
in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy
type 2. (provided by RefSeq, Dec 2009)

GeneCards Summary for COL8A2 Gene:
COL8A2 (collagen, type VIII, alpha 2) is a protein-coding gene. Diseases associated with COL8A2 include corneal dystrophy polymorphous posterior, 2, and fuchs' endothelial dystrophy. GO annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067
Function: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement
membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for
migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of
vessel wall integrity and structure, in particular in atherogenesis (By similarity)

Gene Wiki entry for COL8A2 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:
NC_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL8A2 gene promoter:
         HOXA9B   E47   C/EBPalpha   AREB6   Egr-2   ARP-1   Hand1   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL8A2 promoter sequence
   Search Chromatin IP Primers for COL8A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL8A2


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

Entrez Gene cytogenetic band: 1p34.2   Ensembl cytogenetic band:  1p34.3   HGNC cytogenetic band: 1p34.2-p32.3

COL8A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL8A2 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M036563:  view genomic region     (about GC identifiers)

Start:
36,560,837 bp from pter      End:
36,590,821 bp from pter
Size:
29,985 bases      Orientation:
minus strand

(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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067 (See protein sequence)
Recommended Name: Collagen alpha-2(VIII) chain precursor  
Size: 703 amino acids; 67244 Da
Subunit: Homotrimers, or heterotrimers in association with alpha 2(VIII) type collagens. Four homotrimers can form
a tetrhedron stabilized by central interacting C-terminal NC1 trimers
Sequence caution: Sequence=BAB84955.1; Type=Erroneous initiation;
Secondary accessions: Q5JV31 Q8TEJ5

Explore the universe of human proteins at neXtProt for COL8A2: NX_P25067

Explore proteomics data for COL8A2 at MOPED

Post-translational modifications: 

  • Proteolytically cleaved by neutrophil elastase, in vitro1
  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • Modification sites at neXtProt

  • See COL8A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_005193.1  
    ENSEMBL proteins: 
     ENSP00000305913   ENSP00000380901   ENSP00000436433  
    Reactome Protein details: P25067

    COL8A2 Human Recombinant Protein Products:

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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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    HGNC Gene Families:
    COLLAGEN: Collagens

    3 InterPro protein domains:
     IPR008983 Tumour_necrosis_fac-like_dom
     IPR008160 Collagen
     IPR001073 C1q

    Graphical View of Domain Structure for InterPro Entry P25067

    ProtoNet protein and cluster: P25067

    3 Blocks protein domains:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067
    Similarity: Contains 1 C1q domain


    COL8A2 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO8A2_HUMAN, P25067
    Function: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement
    membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for
    migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of
    vessel wall integrity and structure, in particular in atherogenesis (By similarity)
    Induction: Some up-regulation in diabetic nephropathy

         Genatlas biochemistry entry for COL8A2:
    collagen type VIII,alpha 2,short chain,component of Descemet membrane

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS2019595
    GO:0005515protein binding ----
    GO:0030674protein binding, bridging NAS2019595
         
    COL8A2 for ontologies           About GeneDecksing


    Phenotypes:
         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Col8a2):
     cellular  vision/eye 

    COL8A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col8a2tm1Bjro for COL8A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL8A2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL8A2

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       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL8A2

    miRNA
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    miRTarBase miRNAs that target COL8A2:
    hsa-mir-124-3p (MIRT022679), hsa-mir-335-5p (MIRT017982)

    Block miRNA regulation of human, mouse, rat COL8A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL8A2 (see all 11):
    hsa-miR-3163 hsa-miR-607 hsa-miR-605 hsa-miR-765 hsa-miR-597 hsa-miR-1305 hsa-miR-4287 hsa-miR-221*
    SwitchGear 3'UTR luciferase reporter plasmidCOL8A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL8A2

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    GenScript: all cDNA clones in your preferred vector: COL8A2 (NM_005202)
    Browse Sino Biological Human cDNA Clones
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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
    CO8A2_HUMAN, P25067: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix NAS2019595
    GO:0005581collagen IEA--
    GO:0005604basement membrane NAS2019595
    GO:0005788endoplasmic reticulum lumen TAS--

    COL8A2 for ontologies           About GeneDecksing


    (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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    SuperPaths for COL8A2 About    
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    3ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    4Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56
    5Degradation of the extracellular matrix
    Extracellular matrix organization0.34

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL8A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    4 Reactome Pathways for COL8A2
        Integrin cell surface interactions
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation



    COL8A2 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL8A2
    Interactions:

        Search GeneGlobe Interaction Network for COL8A2

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

    Selected Interacting proteins for COL8A2 (P250673 ENSP000003059134) via UniProtKB, MINT, STRING, and/or I2D (see all 40)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL8A1P276583, ENSP000002610374I2D: score=3 STRING: ENSP00000261037
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    COL13A1ENSP000003486954STRING: ENSP00000348695
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0016337cell-cell adhesion NAS2019595
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    COL8A2 for ontologies           About GeneDecksing



    (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 COL8A2 (CO8A2)



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COL8A2 gene: 
    NM_005202.2  

    Unigene Cluster for COL8A2:

    Collagen, type VIII, alpha 2
    Hs.353001  [show with all ESTs]
    Unigene Representative Sequence: NM_005202
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000303143(uc001bzv.2 uc001bzw.2) ENST00000397799 ENST00000481785

    miRNA
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    Block miRNA regulation of human, mouse, rat COL8A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL8A2 (see all 11):
    hsa-miR-3163 hsa-miR-607 hsa-miR-605 hsa-miR-765 hsa-miR-597 hsa-miR-1305 hsa-miR-4287 hsa-miR-221*
    SwitchGear 3'UTR luciferase reporter plasmidCOL8A2 3' UTR sequence
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      QuantiTect SYBR Green Assays in human, mouse, rat COL8A2
      QuantiFast Probe-based Assays in human, mouse, rat COL8A2

    Additional mRNA sequence: 

    AK074129.1 AK090924.1 BC096295.1 BC096296.3 BC096297.1 BC099645.1 

    2 DOTS entries:

    DT.412695  DT.121419682 

    Selected AceView cDNA sequences (see all 108):

    AI972561 AI079870 BG251391 AI377572 CD677468 AW139967 AA668249 AI280956 
    AI084616 BM667087 CA447866 AI084614 BF062464 AW196059 BQ774255 AA618567 
    AL138071 NM_005202 CA394055 AI264326 CN482481 BM705105 AW627763 AK074129 

    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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    COL8A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAACTGTAT
    COL8A2 Expression
    About this image


    COL8A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 7) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 6 entries
             Mesenchymal Condensate Cells Zeugopod
             Mandibular Process
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 4 entries
             Mesenchymal Condensate Cells Zeugopod
             HyStem+TGFbeta3+GDF5-induced SK11 cells
     
     Endothelium (Cardiovascular System)
             Mature Endothelial Cells Corneal Endothelium
     
     Eye (Sensory Organs)
             Mature Endothelial Cells Corneal Endothelium
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    COL8A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL8A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.353001

    UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067
    Tissue specificity: Expressed primarily in the subendothelium of large blood vessels. Also expressed in arterioles
    and venules in muscle, heart, kidney, spleen, umbilical cord, liver and lung and is also found in connective
    tissue layers around hair follicles, around nerve bundles in muscle, in the dura of the optic nerve, in cornea
    and sclera, and in the perichondrium of cartilaginous tissues. In the kidney, expressed in mesangial cells,
    glomerular endothelial cells, and tubular epithelial cells. Also expressed in mast cells, and in astrocytes
    during the repair process. Expressed in Descemet's membrane

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    QuantiFast Probe-based Assays in human, mouse, rat COL8A2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A2

    (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 COL8A2 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col8a21 , 5 collagen, type VIII, alpha 21, 5 87.9(n)1
    95.31(a)1
      4 (60.29 cM)5
    3299411  NM_199473.21  NP_955767.11 
     1262867935 
    chicken
    (Gallus gallus)
    Aves COL8A21 collagen, type VIII, alpha 2 72.98(n)
    81.2(a)
      428221  XM_425780.4  XP_425780.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL8A26
    collagen, type VIII, alpha 2
    76(a)
    1 ↔ 1
    GL343488.1(622831-632022)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col8a21 collagen, type VIII, alpha 2 64.65(n)
    70.24(a)
      100486732  XM_002936225.2  XP_002936271.2 
    zebrafish
    (Danio rerio)
    Actinopterygii col8a21 collagen, type VIII, alpha 2 64.12(n)
    66.21(a)
      794479  NM_001082901.1  NP_001076370.1 


    ENSEMBL Gene Tree for COL8A2 (if available)
    TreeFam Gene Tree for COL8A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL8A2 gene
    C1QTNF62  C1QB2  COL10A12  C1QTNF12  C1QTNF9B2  C1QA2  C1QTNF42  C1QTNF92  
    C1QTNF52  COL8A12  OTOL12  C1QTNF82  C1QTNF72  C1QC2  C1QTNF22  ADIPOQ2  
    13 SIMAP similar genes for COL8A2 using alignment to 8 protein entries:     CO8A2_HUMAN (see all proteins):
    COL8A1    COL10A1    C1QTNF6    CBLN2    CBLN3    C1QTNF9
    COL4A5    C1QTNF9B    SFTPD    C1QL4    C1QB    COL7A1
    MARCO

    COL8A2 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), 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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    Selected SNPs for COL8A2 (see all 213)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2012356881,2,,4
    CCorneal dystrophy, Fuchs endothelial, 1 (FECD1)4 --36645224(+) CAGGGC/TGACCC 2 H R mis10--------
    rs758646561,2,,4
    C,FCorneal dystrophy, Fuchs endothelial, 1 (FECD1)4 --36646061(+) GTCCCC/TGGAGG 2 Q R mis11Minor allele frequency- T:0.07EA 120
    VAR_0178984
    Corneal dystrophy, posterior polymorphous, 2 (PPCD2)4--see VAR_0178982 Q K mis40--------
    VAR_0178954
    Corneal dystrophy, Fuchs endothelial, 1 (FECD1)4--see VAR_0178952 R Q mis40--------
    rs803581911,2
    Cpathogenic136645162(-) CTGGGA/CAGCCT 2 K Q mis10--------
    rs803581921,2
    Cpathogenic136645176(-) TGACTG/TGGGGC 2 W L mis10--------
    rs1406524701,2
    --36641610(+) TGAGCA/GTGGCA 1 -- ds50010--------
    rs726616671,2
    C,F--36641640(+) CCGCCC/AAGGAC 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1155429341,2
    C,F--36641688(+) TAGCCC/TAGCCC 1 -- ds50011Minor allele frequency- T:0.06WA 118
    rs1384941831,2
    C--36641732(+) TTGTA-/TCAGAT 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for COL8A2 (36560837 - 36590821 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COL8A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv871804CNV Loss21882294
    nsv834691CNV Loss17160897
    nsv871396CNV Gain21882294

    Human Gene Mutation Database (HGMD): COL8A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL8A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL8A2

    (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: 120252   
    OMIM disorders: 136800  609140  
    UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067
  • Corneal dystrophy, Fuchs endothelial, 1 (FECD1) [MIM:136800]: A corneal disease caused by loss of
    endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet
    membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is
    thickened by abnormal collagenous deposition. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Corneal dystrophy, posterior polymorphous, 2 (PPCD2) [MIM:609140]: A rare mild subtype of posterior
    corneal dystrophy characterized by alterations of Descemet membrane presenting as vesicles, opacities or
    band-like lesions on slit-lamp examination and specular microscopy. Affected patient typically are asymptomatic.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for COL8A2:    
    About MalaCards
    corneal dystrophy polymorphous posterior, 2    fuchs' endothelial dystrophy    corneal dystrophy fuchs endothelial 1    band keratopathy
    posterior polymorphous corneal dystrophy    corneal dystrophy, hereditary polymorphous posterior    type vi ehlers-danlos syndrome    corneal edema
    corneal dystrophy    keratopathy    endotheliitis    ehlers-danlos syndrome
    open-angle glaucoma    primary open angle glaucoma    keratoconus    glaucoma
    diabetic nephropathy    multiple myeloma    myeloma

    2 diseases from the University of Copenhagen DISEASES database for COL8A2:
    Corneal dystrophy     Keratoconus

    COL8A2 for disorders           About GeneDecksing

    5 Novoseek inferred disease relationships for COL8A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    posterior polymorphous corneal dystrophy 97.2 2 15851557 (2)
    corneal dystrophy, fuchs endothelial 96.8 7 15175909 (1), 20144242 (1), 18502986 (1), 18024822 (1) (see all 5)
    endothelial corneal dystrophy 91.1 1 11689488 (1)
    corneal dystrophy 90.4 12 16936088 (2), 18464802 (2), 15175909 (1), 17471329 (1) (see all 7)
    fuchs dystrophy 80.3 1 15175909 (1)

    Genetic Association Database (GAD): COL8A2
    Human Genome Epidemiology (HuGE) Navigator: COL8A2 (3 documents)

    Export disorders for COL8A2 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 COL8A2 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with COL8A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Missense mutations in COL8A2, the gene encoding the alpha-2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy. (PubMed id 11689488)1, 2, 3, 9 Biswas S.... Black G.C.M. (Hum. Mol. Genet. 2001)
    2. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PubMed id 17721297)1, 4, 9 Aldave A.J....Sonmez B. (Cornea 2007)
    3. Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy. (PubMed id 15175909)1, 2, 9 Kobayashi A.... Kanai A. (Jpn. J. Ophthalmol. 2004)
    4. Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India. (PubMed id 20144242)1, 4, 9 Hemadevi B....Sundaresan P. (BMC Ophthalmol 2010)
    5. Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness. (PubMed id 21139683)1, 4 Desronvil T....Wiggs J.L. (Mol. Vis. 2010)
    6. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers. (PubMed id 14990571)1, 2 Stephan S.... Kielty C.M. (J. Biol. Chem. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo. (PubMed id 10686422)1, 2 Greenhill N.S.... Davis P.F. (Matrix Biol. 2000)
    9. The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1. (PubMed id 2019595)1, 2 Muragaki Y....Olsen B.R. (J. Biol. Chem. 1991)
    10. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. (PubMed id 18464802)1, 9 Mok J.W....Joo C.K. (Eye (Lond) 2009)

    (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)
    About This Section

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    Entrez Gene: 1296 HGNC: 2216 AceView: COL8A2 Ensembl:ENSG00000171812 euGenes: HUgn1296
    ECgene: COL8A2 H-InvDB: COL8A2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for COL8A2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for COL8A2 gene:
    Search GeneIP for patents involving COL8A2

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



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