Set Analyses:
Advanced Search

Advanced Search

 
Search By
Section (entire)
for


 
or upload a file of gene symbols


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

COL8A1 Gene

protein-coding   GIFtS: 59
GCID: GC03P099357

Collagen, Type VIII, Alpha 1

(Previous name: chromosome 3 open reading frame 7)
(Previous symbol: C3orf7)
  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)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 schmid metaphyseal chondrodysplasia, and posterior polymorphous corneal dystrophy, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and FAK1 Signaling. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NT_005612.16  NC_018914.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL8A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 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: 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
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
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:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: Proteolytically cleaved by neutrophil elastase, in vitro. Proteolytic processing produces the C-terminal NC1
    domain fragment, vastatin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P27658

  • COL8A1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL8A1 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001841.2  NP_065084.2  

    ENSEMBL proteins: 
     ENSP00000387589   ENSP00000261037   ENSP00000273342  
    Reactome Protein details: P27658
    Human Recombinant Protein Products for COL8A1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for COL8A1
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for COL8A1
    GenScript Custom Purified and Recombinant Proteins Services for COL8A1
    Novus Biologicals COL8A1 Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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--

    COL8A1 for ontologies           About GeneDecksing



    COL8A1 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    Browse OriGene Antibodies
    OriGene Custom Antibody Services for COL8A1
    GenScript Custom Superior Antibodies Services for COL8A1
    Novus Biologicals COL8A1 Antibodies
    Abcam antibodies for COL8A1
    Browse Antibodies at Cloud-Clone Corp. 
    Search ThermoFisher Antibodies for COL8A1
    LSBio Antibodies in human, mouse, rat for COL8A1 

    Assay Products for COL8A1: 
    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for COL8A1
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COL8A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


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

    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


    COL8A1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding ----
         
    COL8A1 for ontologies           About GeneDecksing


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

    COL8A1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col8a1tm1Bjro for COL8A1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL8A1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL8A1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL8A1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL8A1 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL8A1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COL8A1
    SwitchGear 3'UTR luciferase reporter plasmidCOL8A1 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL8A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL8A1

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL8A1
    Sirion Biotech Customized adenovirus for overexpression of COL8A1

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for COL8A1 (see all 14)
    OriGene ORF clones in mouse, rat for COL8A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): COL8A1 (NM_001850)
    Sino Biological Human cDNA Clone for COL8A1
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL8A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL8A1
    Sirion Biotech Customized lentivirus for stable overexpression of COL8A1 
                         Customized lentivirus expression plasmids for stable overexpression of COL8A1 

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for COL8A1
    LifeMap BioReagents: cell line associated with COL8A1: PureStem ES-210, Ecto-ntu Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A1


    (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 COL8A1 About                                                                                                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

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL8A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway


    5/6        Reactome Pathways for COL8A1 (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



    COL8A1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL8A1

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

    5/50 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): 5/8 biological process terms (GO ID links to tree view) (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--

    COL8A1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL8A1 (CO8A1)

    Search CenterWatch for drugs/clinical trials and news about 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,
    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 COL8A1 gene (2 alternative transcripts): 
    NM_001850.4  NM_020351.3  

    Unigene Clusters for COL8A1:

    Collagen, type VIII, alpha 1
    Hs.654548  [show with all ESTs], Hs.740617  [show with all ESTs]
    Unigene Representative Sequences: NM_001850, AF170702
    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)

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL8A1
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate COL8A1
    SwitchGear 3'UTR luciferase reporter plasmidCOL8A1 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for COL8A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL8A1
    Clone
    Products:
         
    OriGene clones in human, mouse for COL8A1 (see all 14)
    OriGene ORF clones in mouse, rat for COL8A1
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): COL8A1 (NM_001850)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL8A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL8A1
    Sirion Biotech Customized lentivirus for stable overexpression of COL8A1 
                         Customized lentivirus expression plasmids for stable overexpression of COL8A1 
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for COL8A1
    OriGene qSTAR qPCR primer pairs in human, mouse for COL8A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL8A1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL8A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL8A1

    Additional mRNA sequence: 

    AF170702.1 AK311449.1 

    7 DOTS entries:

    DT.445854  DT.102838378  DT.445134  DT.100786134  DT.120914798  DT.438864  DT.448615 

    24/183 AceView cDNA sequences (see all 183):

    BQ019542 AI753797 AI336598 BU627992 BQ014631 AI752163 H89055 AI754642 
    BU625202 AI470230 CA454175 BX504907 CD678830 BU627282 BQ935231 AI078693 
    BQ918058 AI753122 AI470587 BC013581 BE858497 CA441754 BF002157 BQ004514 

    GeneLoc Exon Structure

    5/6 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™, 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

    COL8A1 expression in normal human tissues (normalized intensities)      COL8A1 embryonic expression: see
    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 
     5/33 selected tissues (see all 33) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 12 entries
             Endochondral Facial Bones
             HyStem+BMP4-induced SK11 cells
             Normal Human osteoblasts (NHOST)   
             skeleton/pectoral girdle and thoracic body wall/sternum   
     
     Neural Tube (Nervous System)    fully expand to see all 8 entries
             Floor Plate Cells Spinal Floor Plate
             Metencephalon
             brain/midbrain/lateral wall   
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Medulla Oblongata
             Human Brain Vascular Smooth Muscle Cells (HBVSMC)   
             optic nerve head astrocytes   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 6 entries
             HyStem+BMP4-induced SK11 cells
             sensory organ/nose/nasal septum   
     
     Endothelium (Cardiovascular System)    fully expand to see all 5 entries
             Human corneal endothelial cells
             CD31, CD144 positive cells ( Two-step protocol for endothelial differentiation by...
             Human Umbilical Vein Smooth Muscle Cells (HUVSMC)   

    See COL8A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL8A1

    SOURCE GeneReport for Unigene clusters: Hs.654548 Hs.740617

    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

        SABiosciences Expression via Pathway-Focused PCR Array including COL8A1: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for COL8A1
    OriGene qSTAR qPCR primer pairs in human, mouse for COL8A1
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL8A1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL8A1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL8A1
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL8A1 gene from 5/13 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 88.16(n)1
    93.54(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 75.09(n)
    80.3(a)
      418378  XM_416597.3  XP_416597.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL8A16
    Uncharacterized protein
    77(a)
    1 ↔ 1
    3(174771283-174897688)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125692 Xenopus laevis transcribed sequence with moderate similarity more 72.77(n)    CF285777.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufb18b082 Transcribed sequence with moderate similarity to protein more 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)
    About This Section
    Paralogs for COL8A1 gene
    C1QTNF62  COL10A12  C1QB2  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

    COL8A1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2959 SNPs in COL8A1 are shown (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

    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120251    OMIM disorders: --

    16 diseases for COL8A1:    About MalaCards
    schmid metaphyseal chondrodysplasia    posterior polymorphous corneal dystrophy    fuchs' endothelial dystrophy    endotheliitis
    corneal dystrophy    open-angle glaucoma    primary open angle glaucoma    chondrodysplasia
    keratoconus    glaucoma    age related macular degeneration    macular degeneration
    choroiditis    peritonitis    atherosclerosis    hepatitis

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

    COL8A1 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for COL8A1 gene, integrated from 9 sources (see all 38):
    (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. (1991)
    2. Distribution of COL8A2 and COL8A1 gene variants in Ca ucasian primary open angle glaucoma patients with thin central corneal thicknes s. (PubMed id 21139683)1, 4 Desronvil T....Wiggs J.L. (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. (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. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. Keratoconus is not associated with mutations in COL8A1 and COL8A2. (PubMed id 17721297)1, 4 Aldave A.J....Sonmez B. (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. (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. (2006)
    9. Human mast cells produce type VIII collagen in vivo. (PubMed id 7734329)2, 9 Ruger B....Neale T.J. (1994)
    10. Seven new loci associated with age-related macular deg eneration. (PubMed id 23455636)1 Fritsche L.G....Abecasis G.R. (2013)

    (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)

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

    (According to HUGE)
    About This Section
      --

    (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 COL8A1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
    About This Section

     
     EMD Millipore Custom Antibody & Bulk Services
     EMD Millipore Preclinical / Clinical Development Services
     EMD Millipore Immunoassay Services
     EMD Millipore Target Screening & Profiling Services

      
     Browse Antibodies   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
     Browse ELISpot Kits/Development Modules   Browse TFB/Immunoprecipitation Assays  
     Browse Apoptosis Detection Kits/Reagents   Browse Ubiquitin Proteasome Pathway (UPP) Assay Kits/Reagents  
     Browse DNA Damage/Repair Kits/Reagents   Browse Multiplex/Array Assay Kits/Reagents  
     Browse Cell Selection/Detection Kits/Reagents   Browse Secondary Antibodies/Controls/Staining Reagents  
     Browse Protease Activity Assays and Reagents   Browse Recombinant/Natural Proteins  
     Browse Stem Cell Products   Browse Tocris Biochemicals & Compounds  
     Browse cDNA Clones   Browse Proteome Profiler Antibody Arrays  
     Browse OriGene Antibodies   OriGene RNAi products in human, mouse, rat for COL8A1  
     OriGene qPCR primer pairs and template standards for COL8A1   OriGene Protein Over-expression Lysate for COL8A1  
     OriGene Custom Mass Spec   OriGene clones in human, mouse for COL8A1  
     OriGene qSTAR qPCR primer pairs in human, mouse for COL8A1   Browse OriGene full length recombinant human proteins expressed in human HEK293 cells  
     OriGene ORF clones in mouse, rat for COL8A1   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
     OriGene Custom Antibody Services for COL8A1   OriGene Custom Protein Services for COL8A1  

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL8A1
     QIAGEN SeqTarget long-range PCR primers for resequencing COL8A1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL8A1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL8A1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL8A1
     QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL8A1
     GenScript Custom Purified and Recombinant Proteins Services for COL8A1 GenScript cDNA clones with any tag delivered in your preferred vector for COL8A1
     GenScript Custom Assay Services for COL8A1 GenScript Custom Superior Antibodies Services for COL8A1
     GenScript Custom overexpressing Cell Line Services for COL8A1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in COL8A1 promoter
     Search Chromatin IP Primers for COL8A1
     RT2 qPCR Primer Assay in human, mouse, rat COL8A1
     Search GNC Networks for COL8A1
     SABiosciences PCR Arrays including human, mouse, rat COL8A1
     Search Tocris compounds for COL8A1 (CO8A1)
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological Cell Lysates
     cDNA Clones for COL8A1
     4000+ Proteins
     Search Sino Biological for antibodies, proteins & pathways
     Protein Production Services
     Transfection Reagents
     Protein A/G/L resins
     Isotyping reagents
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     COL8A1 antibodies
     COL8A1 lysates
     Antibodies for COL8A1
     See all of Abcam's Antibodies, Kits and Proteins for COL8A1
     Custom Antibody / Protein Production Service
     Bulk Purchasing
     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse Proteins at Cloud-Clone Corp.
     Browse Antibodies at Cloud-Clone Corp.
     Browse ELISAs at Cloud-Clone Corp.
     Browse CLIAs at Cloud-Clone Corp.
     Cell Line associated with COL8A1: PureStem ES-210, Ecto-ntu Progenitor
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL8A1
     SwitchGear 3'UTR luciferase reporter plasmids for COL8A1
     SwitchGear Promoter luciferase reporter plasmids for COL8A1
     Search ThermoFisher Antibodies for COL8A1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL8A1
     inGenious Targeting Laboratory - Custom generated mouse model solutions for COL8A1
     inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL8A1
    Customized:
     lentivirus for stable overexpression of COL8A1
     lentivirus expression plasmids for stable overexpression of COL8A1
     adenovirus for overexpression of COL8A1
     LSBio Antibodies in human, mouse, rat for COL8A1
    Customized transgenic rodents for:
     Humanization
     Biomarker expression
     Off-target effect monitoring
     Translational medicine
     Tissue-specific gene expresssion
     Time-controlled gene expresssion
           
    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

    View Random Gene

    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


    Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

    Hot genes      Disease genes      COL8A1 gene at Home site.
    hostname: 356977-web1.xennexinc.com index build: 106 solr: 1.4