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

COL8A2 Gene

protein-coding   GIFtS: 54
GCID: GC01M036563

collagen, type VIII, alpha 2


(Previous symbol: FECD)
 Explore 16 diseases affiliated with
COL8A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL8A2    

Aliases
for COL8A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type VIII, Alpha 21 2     FECD12 5
PPCD21 2 5     Collagen Alpha-2(VIII) Chain2
FECD1 2     Collagen VIII, Alpha-2 Polypeptide2
PPCD1 2     DJ665N4.1 (Collagen Type VIII Alpha 2)2
Endothelial Collagen2 3     

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


Summaries
for COL8A2 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 COL8A2:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000001.10  NC_018912.1  NT_032977.9  
Regulatory elements:
   SABiosciences 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 plasmid: COL8A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL8A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for COL8A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
Sequence caution: Sequence=BAB84955.1; Type=Erroneous initiation;
Secondary accessions: Q5JV31 Q8TEJ5

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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P25067

    • COL8A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005193.1  
    ENSEMBL proteins: 
     ENSP00000305913   ENSP00000380901   ENSP00000436433  
    Reactome Protein details: P25067
    Human Recombinant Protein Products: 
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    Novus Biologicals COL8A2 Proteins
    Novus Biologicals COL8A2 Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    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:0005578proteinaceous extracellular matrix NAS2019595
    GO:0005581collagen IEA--
    GO:0005604basement membrane NAS2019595
    GO:0005788endoplasmic reticulum lumen TAS--


    COL8A2 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for COL8A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL8A2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    IPB001073 Complement C1q protein
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


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


    Function
    for COL8A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)
    Induction: Some up-regulation in diabetic nephropathy

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL8A2
    8/11 QIAGEN miScript miRNA 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 plasmid: COL8A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    Cell Line
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    LifeMap BioReagents: cell line associated with COL8A2: PureStem Progenitor E68

    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS2019595
    GO:0030674protein binding, bridging NAS2019595


    COL8A2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Col8a2tm1Bjro for COL8A2
         2 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Col8a2):
     cellular  vision/eye 

    COL8A2 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COL8A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79
    5Gelatin degradation by MMP19
    		Gelatin degradation by MMP191.00
    		Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 130.64

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL8A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/9        Reactome Pathways for COL8A2 (see all 9)
        Secretion of collagens
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Degradation of collagen
    Gelatin degradation by MMP19



    COL8A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL8A2

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

    5/40 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): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0016337cell-cell adhesion NAS2019595
    GO:0030198extracellular matrix organization TAS--
    GO:0048593camera-type eye morphogenesis IEA--
    GO:0050673epithelial cell proliferation IEA--


    COL8A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL8A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 COL8A2
    Search CenterWatch for drugs/clinical trials and news about COL8A2 / CO8A2 

    Transcripts
    for COL8A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    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 plasmid: COL8A2 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL8A2 (see all 4)
    OriGene shRNA RFP: COL8A2
    OriGene siRNA: COL8A2
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL8A2
    Clone
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    GenScript: all cDNA clones in your preferred vector: COL8A2 (NM_005202)
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    Primer
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    Additional cDNA sequence: 

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

    2 DOTS entries:

    DT.412695  DT.121419682 

    24/108 AceView cDNA sequences (see all 108):

    CA394055 BF062435 AL138071 AW139967 NM_005202 BM667087 AI377572 AW627763 
    AA618567 AI972561 CN482481 AK074129 CD677468 AW196059 AI084614 CA447866 
    AI079870 AA668249 CA412659 BQ774255 AI084616 BM708117 AI280956 BG251391 

    GeneLoc Exon Structure


    Expression
    for COL8A2 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

    COL8A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TTAACTGTAT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COL8A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    4 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    BoneMandibular ProcessBone
    KidneyInterstitial StromaKidney
    Reproductive SystemMesonephrosReproductive System
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 5 LifeMap Cells 
    NameCategory
    PureStem™ progenitor E68 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN13 (Embryonic Progenitor Cell)
    Embryoid bodies (Two-step protocol fo...)
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)Bone, Cartilage

    See COL8A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL8A2

    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

        SABiosciences Custom PCR Arrays for COL8A2
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    In Situ
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    Orthologs
    for COL8A2 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 COL8A2 gene from 4/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves COL8A21 collagen, type VIII, alpha 2 72.74(n)
    80.49(a)    		   428221  XM_425780.3  XP_425780.3 
    lizard
    (Anolis carolinensis)    		 Reptilia COL8A26
    		 --
    		 77(a)
    		 1 ↔ 1
    		 GL343488.1(622831-624756)
    zebrafish
    (Danio rerio)    		 Actinopterygii col8a21 collagen, type VIII, alpha 2 64.14(n)
    66.12(a)    		   794479  NM_001082901.1  NP_001076370.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea dpy-56
    col-1096
    (see all 11)    		 COLlagen family member (col-109)
    (see all 11)    		 31(a)
    30(a)
    (see all 11)    		 possible ortholog
    possible ortholog
    (see all 11)    		 I(5432161-5433059)
    IV(1817044-1820252)


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

    Paralogs
    for COL8A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL8A2 gene
    C1QL32  C1QL22  C1QTNF92  C1QTNF52  OTOL12  C1QB2  COL10A12  C1QTNF32  
    C1QTNF9B2  C1QA2  COL8A12  C1QL12  C1QTNF72  C1QTNF22  C1QC2  ADIPOQ2  
    C1QL42  
    17 SIMAP similar genes for COL8A2 using alignment to 5 protein entries:     CO8A2_HUMAN (see all proteins):
    COL8A1    COL10A1    C1QTNF6    CBLN2    CBLN3    C1QTNF9
    COL4A5    C1QTNF9B    C1QTNF3    C1QB    COL7A1    MARCO
    OTOL1    SFTPD    C1QL4    C1QL3    COL28A1

    COL8A2 for paralogs           About GeneDecksing



    Genomic Variants
    for COL8A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/145 NCBI SNPs in COL8A2 are shown (see all 145)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 1 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1406524701,2
    		--36560367(+) TGAGCA/GTGGCA 1 -- ds50010--------
    rs726616671,2
    		C,F,--36560397(+) CCGCCC/AAGGAC 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1155429341,2
    		F,--36560445(+) TAGCCC/TAGCCC 1 -- ds50011Minor allele frequency- T:0.06WA 118
    rs1384941831,2
    		C,--36560489(+) TTGTA-/TCAGAT 1 -- ds50010--------
    rs120481501,2
    		--36560645(+) TTTGCC/TTGGCG 1 -- ds50014Minor allele frequency- T:0.22NA WA EA 242
    rs1916978901,2
    		--36560649(+) CCTGGC/TGCATG 1 -- ds50010--------
    rs1997688841,2
    		--36560746(+) TTAAG-/AGCAGGCA 1 -- ds50010--------
    rs1842002701,2
    		--36560752(+) GCAGGC/GACACA 1 -- ds50010--------
    rs1875144281,2
    		--36560809(+) GATACC/TTCTGT 1 -- ds50010--------
    rs1924909071,2
    		--36560889(+) ACATGA/GTTGCT 1 -- ut310--------

    HapMap Linkage Disequilibrium report for COL8A2 (36560837 - 36590821 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL8A2: --
    Human Gene Mutation Database (HGMD): COL8A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL8A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL8A2

    Disorders / Diseases
    for COL8A2 gene

    (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.)
    About This Section
    COL8A2 for disorders           About GeneDecksing

    OMIM gene information: 120252   
    OMIM disorders: 136800  609140  
    UniProtKB/Swiss-Prot: CO8A2_HUMAN, P25067
  • Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1) [MIM:136800]. It is an
    • ocular disorder 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
  • Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2) [MIM:609140]. PPCD
    • is a rare bilateral familial disorder of the corneal epithelium, and is inherited in a autosomal dominant pattern. The
    clinical features usually present earlier than FECD, being from birth onwards. The disorder is 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

    16 diseases for COL8A2:    About MalaCards
    posterior polymorphous corneal dystrophy    corneal dystrophy    corneal dystrophy fuchs endothelial 1    corneal dystrophy polymorphous posterior, 2
    type vi ehlers-danlos syndrome    open-angle glaucoma    fuchs' endothelial dystrophy    ehlers-danlos syndrome
    primary open angle glaucoma    band keratopathy    corneal edema    glaucoma
    macular degeneration    keratopathy    keratoconus    nephropathy

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

    5 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: COL8A2 (3 documents)

    Export disorders for COL8A2 gene to outside databases

    Publications
    for COL8A2 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 COL8A2 gene, integrated from 9 sources (see all 36):
    (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. (2001)
    2. 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. (2004)
    3. Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers. (PubMed id 14990571)1, 2 Stephan S.... Kielty C.M. (2004)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. 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. (2000)
    6. 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. (1991)
    7. Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. (PubMed id 18464802)1, 9 Mok J.W....Joo C.K. (2009)
    8. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PubMed id 17721297)1, 9 Aldave A.J....Sonmez B. (2007)
    9. Genetic analysis of patients with Fuchs endothelial c orneal dystrophy in India. (PubMed id 20144242)1, 9 Hemadevi B....Sundaresan P. (2010)
    10. No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy. (PubMed id 16936088)1, 9 Aldave A.J....Yellore V.S. (2006)

    External Searches for COL8A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    Genome Databases showing COL8A2 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1296 HGNC: 2216 AceView: COL8A2 Ensembl:ENSG00000171812 euGenes: HUgn1296
    ECgene: COL8A2 H-InvDB: COL8A2

    Other Databases showing COL8A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL8A2 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 COL8A2 Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for COL8A2 gene

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