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COL8A1 Gene

protein-coding   GIFtS: 58
GCID: GC03P099357

Collagen, Type VIII, Alpha 1

(Previous name: chromosome 3 open reading frame 7)
(Previous symbol: C3orf7)
  See COL8A1-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 11 2     Cell Proliferation-Inducing Protein 412
C3orf71 2 3     Collagen Alpha-1(VIII) Chain2
Endothelial Collagen2 3     Collagen VIII, Alpha-1 Polypeptide2
Chromosome 3 Open Reading Frame 71     Smooth Muscle Cell-Expressed And Macrophage Conditioned Medium-Induced
Protein Smag-642

External Ids:    HGNC: 22151   Entrez Gene: 12952   Ensembl: ENSG000001448107   OMIM: 1202515   UniProtKB: P276583   

Export aliases for COL8A1 gene to outside databases

Previous GC identifers: GC03P095979 GC03M098636 GC03P100638 GC03P100678 GC03P100840 GC03P096725


(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 COL8A1 Gene:
This gene encodes one of the two alpha chains of type VIII collagen. The gene product is a short chain collagen
and a major component of the basement membrane of the corneal endothelium. The type VIII collagen fibril can be
either a homo- or a heterotrimer. Alternatively spliced transcript variants encoding the same protein have been
observed. (provided by RefSeq, Dec 2011)

GeneCards Summary for COL8A1 Gene:
COL8A1 (collagen, type VIII, alpha 1) is a protein-coding gene. Diseases associated with COL8A1 include posterior polymorphous corneal dystrophy, and fuchs' endothelial dystrophy. An important paralog of this gene is C1QTNF6.

UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658
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
Function: Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell
proliferation and causes cell apoptosis

Gene Wiki entry for COL8A1 (Collagen, type VIII, alpha 1) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000003.12  NC_018914.2  NT_005612.17  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL8A1 gene promoter:
         p53   SREBP-1c   FOXD3   Evi-1   E47   SREBP-1b   AREB6   SREBP-1a   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL8A1 promoter sequence
   Search Chromatin IP Primers for COL8A1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL8A1


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

Entrez Gene cytogenetic band: 3q12.3   Ensembl cytogenetic band:  3q12.1   HGNC cytogenetic band: 3q11.1-q13.2

COL8A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL8A1 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P099357:  view genomic region     (about GC identifiers)

Start:
99,357,319 bp from pter      End:
99,518,070 bp from pter
Size:
160,752 bases      Orientation:
plus 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CO8A1_HUMAN, P27658 (See protein sequence)
Recommended Name: Collagen alpha-1(VIII) chain precursor  
Size: 744 amino acids; 73364 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
Miscellaneous: Four consecutive Gly-Pro-Pro triplets are present at the C-terminus of the triple-helical region.
These may provide the high thermal stability of this region
Secondary accessions: D3DN42 Q53XI6 Q96D07

Explore the universe of human proteins at neXtProt for COL8A1: NX_P27658

Explore proteomics data for COL8A1 at MOPED

Post-translational modifications: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1
    domain fragment, vastatin1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See COL8A1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001841.2  NP_065084.2  

    ENSEMBL proteins: 
     ENSP00000387589   ENSP00000261037   ENSP00000273342  
    Reactome Protein details: P27658

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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 P27658

    ProtoNet protein and cluster: P27658

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


    UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658
    Similarity: Contains 1 C1q domain


    Find genes that share domains with COL8A1           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: CO8A1_HUMAN, P27658
    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
    Function: Vastatin, the C-terminal fragment comprising the NC1 domain, inhibits aortic endothelial cell
    proliferation and causes cell apoptosis
    Induction: Up-regulated during vascular injury, in atherosclerosis and in diabetes

         Genatlas biochemistry entry for COL8A1:
    collagen type VIII,alpha 1,short chain,component of Descemet membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    Find genes that share ontologies with COL8A1           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Col8a1):
     vision/eye 

    Find genes that share phenotypes with COL8A1           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col8a1tm1Bjro for COL8A1

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL8A1
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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
    CO8A1_HUMAN, P27658: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    cytosol1
    mitochondrion1
    peroxisome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005591collagen type VIII TAS2029894
    GO:0005604basement membrane IEA--
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with COL8A1           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COL8A1 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


    Find genes that share SuperPaths with COL8A1           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL8A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    4 Reactome Pathways for COL8A1
        Integrin cell surface interactions
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation


        Pathway & Disease-focused RT2 Profiler PCR Array including COL8A1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL8A1

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

    Selected Interacting proteins for COL8A1 (P276582, 3 ENSP000002610374) via UniProtKB, MINT, STRING, and/or I2D (see all 50)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2857747 I2D: score=3 STRING: ENSP00000357292
    KLHL12Q53G593, ENSP000003562304I2D: score=4 STRING: ENSP00000356230
    COL8A2P250673, ENSP000003059134I2D: score=3 STRING: ENSP00000305913
    EFEMP2O959673, ENSP000003099534I2D: score=3 STRING: ENSP00000309953
    ITGA1P561993, ENSP000002825884I2D: score=1 STRING: ENSP00000282588
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0007155cell adhesion IEA--
    GO:0010811positive regulation of cell-substrate adhesion IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--

    Find genes that share ontologies with COL8A1           About GenesLikeMe



    (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 COL8A1 (CO8A1)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COL8A1 gene (2 alternative transcripts): 
    NM_001850.4  NM_020351.3  

    Unigene Cluster for COL8A1:

    Collagen, type VIII, alpha 1
    Hs.654548  [show with all ESTs]
    Unigene Representative Sequence: NM_001850
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000463753 ENST00000483969 ENST00000474648(uc010hpe.1) ENST00000452013
    ENST00000261037(uc003dtg.1) ENST00000462604 ENST00000273342(uc003dth.1 uc003dti.1)

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    Additional mRNA sequence: 

    AY550974.1 BC013581.1 BT009917.1 X57527.1 

    5 DOTS entries:

    DT.445854  DT.102838378  DT.445134  DT.100786134  DT.448615 

    Selected AceView cDNA sequences (see all 183):

    AI752163 BQ935231 CA448060 BF002157 NM_001850 BT009917 AI336598 BQ004514 
    AA452460 AA703926 BQ775806 AA669976 AA599446 CN484310 AI470230 CA446946 
    AI752218 CA421978 CF132540 CD678830 BQ918058 CA435356 AI078693 BU627992 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COL8A1 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c · 7d
    SP1:                          -     -                                             
    SP2:                                                                              
    SP3:                    -     -     -                                             
    SP4:                    -           -                                             
    SP5:                                                                              


    ECgene alternative splicing isoforms for COL8A1

    (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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    COL8A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TAAAAACAAA
    COL8A1 Expression
    About this image


    COL8A1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 22) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 7 entries
             Floor Plate Cells Spinal Floor Plate
             Diencephalic Roof Plate
     
     Bone (Muscoskeletal System)    fully expand to see all 5 entries
             Endochondral Facial Bones
             HyStem+BMP4-induced SK11 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Pelvic Girdle
     
     Cartilage (Muscoskeletal System)    fully expand to see all 3 entries
             Laryngeal Cartilage
             HyStem+BMP4-induced SK11 cells
     
     Umbilical Cord (Extraembryonic Tissues)    fully expand to see all 3 entries
             Umbilical Arteries
             Umbilical cord-derived mesenchymal stem cells (family)
    COL8A1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL8A1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654548

    UniProtKB/Swiss-Prot: CO8A1_HUMAN, P27658
    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. Specifically expressed in peritoneal fibroblasts and
    mesothelial cells

        Pathway & Disease-focused RT2 Profiler PCR Array including COL8A1: 
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A1

    (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 COL8A1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col8a11 , 5 collagen, type VIII, alpha 11, 5 87.66(n)1
    92.73(a)1
      16 (34.22 cM)5
    128371  NM_007739.21  NP_031765.21 
     576242585 
    chicken
    (Gallus gallus)
    Aves COL8A11 collagen, type VIII, alpha 1 74.77(n)
    79.76(a)
      418378  XM_004938240.1  XP_004938297.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL8A16
    collagen, type VIII, alpha 1
    77(a)
    1 ↔ 1
    3(174771283-174897688)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125692 Xenopus laevis transcribed sequence with moderate similarity to protein refNP_001841.2 (H.sapiens) alpha 1 type VIII collagen precursor; collagen VIII, alpha-1 polypeptide; endothelial collagen [Homo sapiens] less 72.77(n)    CF285777.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb18b082 Transcribed sequence with moderate similarity to protein refNP_001841.2 (H.sapiens) alpha 1 type VIII collagen precursor; collagen VIII, alpha-1 polypeptide; endothelial collagen [Homo sapiens] less 75.41(n)    57038907 


    ENSEMBL Gene Tree for COL8A1 (if available)
    TreeFam Gene Tree for COL8A1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL8A1 gene
    C1QTNF62  C1QB2  COL10A12  C1QTNF12  C1QTNF9B2  C1QA2  C1QTNF42  COL8A22  
    C1QTNF92  C1QTNF52  OTOL12  C1QTNF82  C1QTNF72  C1QC2  C1QTNF22  ADIPOQ2  
    3 SIMAP similar genes for COL8A1 using alignment to 2 protein entries:     CO8A1_HUMAN (see all proteins):
    COL8A2    COL10A1    ADIPOQ

    Find genes that share paralogs with COL8A1           About GenesLikeMe



    (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 COL8A1 (see all 2959)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1926693041,2
    --99355441(+) CCGGGC/TACATG 2 -- us2k10--------
    rs1143727151,2
    C,F--99355707(+) AAGAGG/AAGGGG 2 -- us2k11Minor allele frequency- A:0.03WA 118
    rs2018208381,2
    C--99355730(+) GCGAC-/AATTTG 2 -- us2k10--------
    rs1130358431,2
    F--99355732(+) CGACAC/TTTGGC 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs1505397151,2
    C--99355777(+) GTGGCG/TAGTGC 2 -- us2k10--------
    rs754847081,2
    F--99355872(+) AACAGA/GGAAAT 2 -- us2k11Minor allele frequency- G:0.01EA 120
    rs37556001,2
    C,F,H--99355890(-) TGAAAC/GTTTCG 2 -- us2k17Minor allele frequency- G:0.12NS EA WA NA 772
    rs1394934641,2
    --99355946(+) TTCTCC/TTGGAG 2 -- us2k10--------
    rs1158578251,2
    --99356097(+) TTTAAA/TCCCTT 2 -- us2k10--------
    rs1115717431,2
    C--99356123(+) AAAAA-/ATAAAT 2 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for COL8A1 (99357319 - 99518070 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for COL8A1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2660038CNV Deletion23128226
    esv2666929CNV Deletion23128226
    esv2658441CNV Deletion23128226
    nsv822193CNV Loss20364138
    nsv877217CNV Loss21882294
    nsv508231CNV Loss20534489

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL8A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL8A1

    (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: 120251    OMIM disorders: --

    2 diseases for COL8A1:    
    About MalaCards
    posterior polymorphous corneal dystrophy    fuchs' endothelial dystrophy

    1 disease from the University of Copenhagen DISEASES database for COL8A1:
    Fuchs' endothelial dystrophy

    Find genes that share disorders with COL8A1           About GenesLikeMe

    2 Novoseek inferred disease relationships for COL8A1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    corneal dystrophy 83.8 2 16936088 (2)
    tumors 0 1 14735469 (1)

    Genetic Association Database (GAD): COL8A1
    Human Genome Epidemiology (HuGE) Navigator: COL8A1 (7 documents)

    Export disorders for COL8A1 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 COL8A1 gene, integrated from 10 sources (see all 39):
    (articles sorted by number of sources associating them with COL8A1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3. (PubMed id 2029894)1, 2, 3, 9 Muragaki Y.... Ninomiya Y. (Eur. J. Biochem. 1991)
    2. 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)
    3. Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC). (PubMed id 20385826)1, 4 Neale B.M....Seddon J.M. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    6. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PubMed id 17721297)1, 4 Aldave A.J....Sonmez B. (Cornea 2007)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. 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. (amp 2006)
    9. Human mast cells produce type VIII collagen in vivo. (PubMed id 7734329)2, 9 Ruger B.... Neale T.J. (Int. J. Exp. Pathol. 1994)
    10. Seven new loci associated with age-related macular degeneration. (PubMed id 23455636)1 Fritsche L.G....Abecasis G.R. (Nat. Genet. 2013)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 1295 HGNC: 2215 AceView: COL8A1 Ensembl:ENSG00000144810 euGenes: HUgn1295
    ECgene: COL8A1 H-InvDB: COL8A1

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COL8A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL8A1 gene:
    Search GeneIP for patents involving COL8A1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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