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

COL4A3 Gene

protein-coding   GIFtS: 68
GCID: GC02P227993

Collagen, Type IV, Alpha 3 (Goodpasture Antigen)

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(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 IV, Alpha 3 (Goodpasture Antigen)1 2
tumstatin1 2
Collagen Alpha-3(IV) Chain2
Collagen IV, Alpha-3 Polypeptide2
Goodpasture Antigen3

External Ids:    HGNC: 22041   Entrez Gene: 12852   Ensembl: ENSG000001690317   OMIM: 1200705   UniProtKB: Q019553   

Export aliases for COL4A3 gene to outside databases

Previous GC identifers: GC02P226051 GC02P226750 GC02P228231 GC02P227854 GC02P227737 GC02P219872


(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 COL4A3 Gene:
Type IV collagen, the major structural component of basement membranes, is a multimeric protein composed of 3
alpha subunits. These subunits are encoded by 6 different genes, alpha 1 through alpha 6, each of which can form
a triple helix structure with 2 other subunits to form type IV collagen. This gene encodes alpha 3. In the
Goodpasture syndrome, autoantibodies bind to the collagen molecules in the basement membranes of alveoli and
glomeruli. The epitopes that elicit these autoantibodies are localized largely to the non-collagenous C-terminal
domain of the protein. A specific kinase phosphorylates amino acids in this same C-terminal region and the
expression of this kinase is upregulated during pathogenesis. This gene is also linked to an autosomal recessive
form of Alport syndrome. The mutations contributing to this syndrome are also located within the exons that
encode this C-terminal region. Like the other members of the type IV collagen gene family, this gene is organized
in a head-to-head conformation with another type IV collagen gene so that each gene pair shares a common
promoter. (provided by RefSeq, Jun 2010)

GeneCards Summary for COL4A3 Gene: 
COL4A3 (collagen, type IV, alpha 3 (Goodpasture antigen)) is a protein-coding gene. Diseases associated with COL4A3 include autosomal dominant alport syndrome, and goodpasture syndrome, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include extracellular matrix structural constituent and structural molecule activity. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO4A3_HUMAN, Q01955
Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
Function: Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both
anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via
RGD-independent ITGB3-mediated mechanisms

Gene Wiki entry for COL4A3 (Collagen alpha-3(IV) chain) 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_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL4A3 gene promoter:
         ER-alpha   AML1a   Olf-1   NF-AT   Arnt   Evi-1   E47   Zic1   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL4A3 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL4A3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL4A3


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

Entrez Gene cytogenetic band: 2q36-q37   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q36-q37

COL4A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A3 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P227993:  view genomic region     (about GC identifiers)

Start:
228,029,281 bp from pter      End:
228,179,508 bp from pter
Size:
150,228 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: CO4A3_HUMAN, Q01955 (See protein sequence)
Recommended Name: Collagen alpha-3(IV) chain precursor  
Size: 1670 amino acids; 161813 Da
Subunit: There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix
structure with 2 other chains to generate type IV collagen network. The alpha 3(IV) chain forms a triple helical
protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain
interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha
5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite promoter, respectively. Interacts with COL4A3BP AND
ITGB3. Associates with LAMB2 at the neuromuscular junction and in GBM (By similarity)
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane. Note=Colocalizes
with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL) (By similarity)
Miscellaneous: The epitopes recognized by the Goodpasture autoantibodies are sequestered within the NC1 hexamer of
the type IV collagen network
Secondary accessions: Q53QQ1 Q53R14 Q53RW8 Q9BQT2 Q9NYC4 Q9UDJ9 Q9UDK9 Q9UDL0 Q9UDL1
Alternative splicing: 5 isoforms:  Q01955-1   Q01955-2   Q01955-3   Q01955-4   Q01955-5   (Ref.11 (AAA18942) sequence is in conflict in position: 1539:R->I)

Explore the universe of human proteins at neXtProt for COL4A3: NX_Q01955

Explore proteomics data for COL4A3 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: Isoform 2 contains an additional N-linked glycosylation site
  • UniProtKB: Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide
    bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens
  • UniProtKB: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By
    similarity)
  • UniProtKB: Phosphorylated by the Goodpasture antigen-binding protein/COL4A3BP
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q01955

  • COL4A3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A3 Protein Expression
    REFSEQ proteins: NP_000082.2  
    ENSEMBL proteins: 
     ENSP00000379823   ENSP00000302781  
    Reactome Protein details: Q01955
    Human Recombinant Protein Products for COL4A3: 
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    Sino Biological Recombinant Protein for COL4A3
    Sino Biological Cell Lysate for COL4A3 
    ProSpec Recombinant Protein for COL4A3
    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:0005581collagen ----
    GO:0005587collagen type IV IDA10766752
    GO:0005604basement membrane IDA10766752
    GO:0005788endoplasmic reticulum lumen TAS--

    COL4A3 for ontologies           About GeneDecksing



    COL4A3 Antibody Products: 
    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
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    Novus Biologicals COL4A3 Antibody
    Abcam antibodies for COL4A3
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    LSBio Antibodies in human, mouse, rat for COL4A3 

    Assay Products for COL4A3: 
    Browse Kits and Assays available from EMD Millipore
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    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:
     IPR016187 C-type_lectin_fold
     IPR001442 Collagen_VI_NC
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry Q01955

    ProtoNet protein and cluster: Q01955

    3 Blocks protein domains:
    IPB001442 Type 4 procollagen
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO4A3_HUMAN, Q01955
    Domain: Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent
    interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the
    triple helix), and a short N-terminal triple-helical 7S domain
    Similarity: Belongs to the type IV collagen family
    Similarity: Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain


    COL4A3 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: CO4A3_HUMAN, Q01955
    Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
    'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen
    Function: Tumstatin, a cleavage fragment corresponding to the collagen alpha 3(IV) NC1 domain, possesses both
    anti-angiogenic and anti-tumor cell activity; these two anti-tumor properties may be regulated via
    RGD-independent ITGB3-mediated mechanisms

         Genatlas biochemistry entry for COL4A3:
    collagen type IV,alpha 3,glomerular basement membrane,Bowman capsule,distal TBM,neuromuscular junction,expressed
    in the dermoepidermal junction during fetal skin development

         Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005178integrin binding TAS10766752
    GO:0005198structural molecule activity NAS3025878
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005515protein binding IPI10212244
    GO:0008191metalloendopeptidase inhibitor activity NAS10766752
         
    COL4A3 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COL4A3:
     Increased gamma-H2AX phosphory  Synthetic lethal with c-Myc af 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Col4a3):
     behavior/neurological  cardiovascular system  growth/size  hearing/vestibular/ear  homeostasis/metabolism 
     immune system  mortality/aging  other  renal/urinary system  vision/eye 

    COL4A3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for COL4A3: Col4a3tm1Jhm Col4a3tm1Dec

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL4A3 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL4A3

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A3 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL4A3 

    miRNA
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    8/60 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A3 (see all 60):
    hsa-miR-579 hsa-miR-607 hsa-miR-3607-3p hsa-miR-429 hsa-miR-106a hsa-miR-29a hsa-miR-519a hsa-miR-502-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of COL4A3

    Clone
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    GenScript: all cDNA clones in your preferred vector: COL4A3 (NM_000091)
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    Search LifeMap BioReagents cell lines for COL4A3
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A3


    (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 COL4A3 About   (see all 23)                                                                                              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
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM proteoglycans0.38
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    3Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    4Integrin 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
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for COL4A3 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation
    Cell adhesion Plasmin signaling

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL4A3 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A3
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion ECM remodeling
    Cell adhesion Plasmin signaling

    1 BioSystems Pathway for COL4A3
        Integrins in angiogenesis


    5/16        Reactome Pathways for COL4A3 (see all 16)
        Developmental Biology
    Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    NCAM signaling for neurite out-growth

    1 PharmGKB Pathway for COL4A3
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for COL4A3) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL4A3

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

    5/68 Interacting proteins for COL4A3 (Q019553 ENSP000003798234) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MFAP2P550013, ENSP000003646854I2D: score=3 STRING: ENSP00000364685
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    CAMK2BQ135543, ENSP000002586824I2D: score=2 STRING: ENSP00000258682
    FBLN2P980953, ENSP000003841694I2D: score=2 STRING: ENSP00000384169
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006919activation of cysteine-type endopeptidase activity involved in apoptotic process IDA10766752
    GO:0007155cell adhesion IEA--
    GO:0007166cell surface receptor signaling pathway NAS10766752
    GO:0007411axon guidance TAS--
    GO:0007605sensory perception of sound TAS7987396

    COL4A3 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

    COL4A3 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL4A3 (CO4A3)

    4 Novoseek inferred chemical compound relationships for COL4A3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arresten 87.9 3 17182928 (1), 17602710 (1), 15936594 (1)
    vegf 33.5 3 12709411 (2), 16685428 (1)
    phosphatidylinositol 0 3 11778052 (1), 12682293 (1)
    cyclosporin a 0 1 12874469 (1)

    Search CenterWatch for drugs/clinical trials and news about COL4A3 / CO4A3

    (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 COL4A3 gene (6 alternative transcripts): 
    NM_000091.4  NM_031362.2  NM_031363.1  NM_031364.1  NM_031365.2  NM_031366.2  

    Unigene Cluster for COL4A3:

    Collagen, type IV, alpha 3 (Goodpasture antigen)
    Hs.570065  [show with all ESTs]
    Unigene Representative Sequence: NM_000091
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396578(uc002vom.2 uc010fxf.2 uc021vxt.1) ENST00000487633
    ENST00000304990 ENST00000468753 ENST00000471862 ENST00000469504

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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL4A3

    Additional mRNA sequence: 

    AF258351.1 EU268882.1 M81379.1 M92993.1 S55790.1 U02519.1 U02520.1 X80031.1 

    12 DOTS entries:

    DT.100779648  DT.92421706  DT.97838404  DT.65284631  DT.100034183  DT.40114593  DT.91796670  DT.95154423 
    DT.40127295  DT.442616  DT.453287  DT.95306191 

    24/60 AceView cDNA sequences (see all 60):

    AF258351 BM717659 BM671116 U02520 M92993 CB957049 X80031 BX115261 
    BX646031 BM728016 U02519 CB985668 AL036294 AA287797 S55790 CA777036 
    BU739220 BG535003 CD677751 BM670570 BX118233 AW058588 BM683763 BM680591 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, 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

    COL4A3 expression in normal human tissues (normalized intensities)      COL4A3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TGCATTATTT
    COL4A3 Expression
    About this image


    COL4A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/4 selected tissues (see all 4) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Wolffian Duct
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             vastus lateralis   
     
     Adrenal Gland (Endocrine System)
             adrenal cortex   
     
     Eye (Sensory Organs)

    See COL4A3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A3

    SOURCE GeneReport for Unigene cluster: Hs.570065

    UniProtKB/Swiss-Prot: CO4A3_HUMAN, Q01955
    Tissue specificity: Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement
    membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung.
    PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but
    PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of
    alpha 4 type IV collagen. According to PubMed:8083201, alpha 3 type IV collagen is not detected in heart, brain,
    placenta, liver, pancreas, extrasynaptic muscle fibers, endoneurial and perineurial nerves, fetal brain, fetal
    heart and fetal liver. According to PubMed:7523402, alpha 3 type IV collagen is strongly expressed in pancreas,
    neuroretina and calvaria and not expressed in adrenal, ileum and skin. Isoform 1 and isoform 3 are strongly
    expressed in kidney, lung, suprarenal capsule, muscle and spleen, in each of these tissues isoform 1 is more
    abundant than isoform 3. Isoform 1 and isoform 3 are expressed at low levels in artery, fat, pericardium and
    peripherical nerve, but not in placenta, mesangium, skin, pleura and cultured umbilical endothelial cells

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL4A3: 
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    (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 COL4A3 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a31 , 5 collagen, type IV, alpha 31, 5 81.61(n)1
    78.96(a)1
      1 (42.32 cM)5
    128281  NM_007734.21  NP_031760.21 
     825869215 
    chicken
    (Gallus gallus)
    Aves COL4A31 collagen, type IV, alpha 3 (Goodpasture antigen) 63.66(n)
    60.55(a)
      424797  XM_001234729.2  XP_001234730.2 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A36
    collagen, type IV, alpha 3 (Goodpasture antigen)
    58(a)
    1 ↔ 1
    3(23464166-23573541)
    zebrafish
    (Danio rerio)
    Actinopterygii --
    --
    38(a)
    possible ortholog
    13(7362553-7453879)
    fruit fly
    (Drosophila melanogaster)
    Insecta vkg6
    viking
    35(a)
    1 → many
    2L(5012144-5028191)
    worm
    (Caenorhabditis elegans)
    Secernentea let-23 alpha-2 type IV collagen 56(a)
    (best of 2)
      X(16411823-16420128)   --


    ENSEMBL Gene Tree for COL4A3 (if available)
    TreeFam Gene Tree for COL4A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A3 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    9 SIMAP similar genes for COL4A3 using alignment to 3 protein entries:     CO4A3_HUMAN (see all proteins):
    COL4A5    COL4A1    MSR1    GLDN    COL4A6    COL6A2
    COL4A4    COL4A2    SFTPD

    COL4A3 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

    10/2570 SNPs in COL4A3 are shown (see all 2570)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0112064
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0112062 G R mis40--------
    VAR_0112104
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0112102 G R mis40--------
    VAR_0309454
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0309452 G D mis40--------
    VAR_0112194
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0112192 R C mis40--------
    VAR_0309494
    Hematuria, benign familial (BFH)4--see VAR_0309492 G E mis40--------
    VAR_0309464
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0309462 G R mis40--------
    VAR_0309474
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0309472 G R mis40--------
    VAR_0309484
    Hematuria, benign familial (BFH)4--see VAR_0309482 G V mis40--------
    VAR_0112174
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0112172 G E mis40--------
    VAR_0112114
    Alport syndrome, autosomal dominant (APSAD)4--see VAR_0112112 G R mis40--------

    HapMap Linkage Disequilibrium report for COL4A3 (228029281 - 228179508 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for COL4A3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1344671CNV Deletion17803354
    esv2721552CNV Deletion23290073
    esv2721549CNV Deletion23290073
    esv2721553CNV Deletion23290073
    esv2721551CNV Deletion23290073
    esv1219477CNV Insertion17803354
    esv1431099CNV Insertion17803354
    nsv521800CNV Loss19592680


    Human Gene Mutation Database (HGMD): COL4A3
    SABiosciences Cancer Mutation PCR Assays
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    (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: 120070   
    OMIM disorders: 203780  141200  
    UniProtKB/Swiss-Prot: CO4A3_HUMAN, Q01955
  • Note=Autoantibodies against the NC1 domain of alpha 3(IV) are found in Goodpasture syndrome, an
    autoimmune disease of lung and kidney
  • Alport syndrome, autosomal recessive (APSAR) [MIM:203780]: A syndrome characterized by progressive
    glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye
    abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families
    differ in the age of end-stage renal disease and the occurrence of deafness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Hematuria, benign familial (BFH) [MIM:141200]: An autosomal dominant condition characterized by
    non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized
    pathologically by thinning of the glomerular basement membrane. Note=The disease is caused by mutations affecting
    the gene represented in this entry
  • Alport syndrome, autosomal dominant (APSAD) [MIM:104200]: A syndrome characterized by progressive
    glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye
    abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families
    differ in the age of end-stage renal disease and the occurrence of deafness. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/34 diseases for COL4A3 (see all 34):    About MalaCards
    autosomal dominant alport syndrome    goodpasture syndrome    col4a3 alport syndrome and thin basement membrane nephropathy    cerebral arteritis
    thin basement membrane nephropathy    autosomal recessive alport syndrome    alport syndrome and thin basement membrane nephropathy    collagen iv-related nephropathies
    alport syndrome    snowflake vitreoretinal degeneration    vitreoretinal degeneration    posterior polymorphous corneal dystrophy
    focal segmental glomerulosclerosis    leiomyomatosis    corneal dystrophy    proteinuria
    keratoconus    sensorineural hearing loss    glomerulonephritis    abdominal aortic aneurysm

    5 diseases from the University of Copenhagen DISEASES database for COL4A3:
    Alport syndrome     Goodpasture syndrome     Kidney disease     Cerebral arteritis
    Sensorineural hearing loss

    COL4A3 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/17 Novoseek inferred disease relationships for COL4A3 gene (see all 17)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alport syndrome, autosomal recessive 98.3 21 17216251 (3), 18436078 (2), 7780062 (2), 7633417 (1) (see all 12)
    hematuria benign familial 96 7 12768082 (1), 19937058 (1), 11961012 (1), 12028435 (1) (see all 7)
    alports syndrome 95.7 37 7987301 (3), 11134255 (3), 15086897 (2), 7783419 (2) (see all 27)
    alport syndrome, autosomal dominant 94.7 3 9269635 (2), 11044206 (1)
    alport syndrome, x-linked 91.1 4 8793804 (1), 19937058 (1), 15954103 (1), 10854213 (1)
    renal disease 67.6 14 14871398 (2), 18439107 (2), 11134255 (2), 12874469 (1) (see all 10)
    goodpasture syndrome 66.9 1 8691734 (1)
    nephritis 58.8 1 7780062 (1)
    proteinuria 57.4 4 16648256 (2), 18726620 (1), 7780062 (1)
    renal failure 54.2 2 16648256 (1), 16775036 (1)

    GeneTests: COL4A3
    GeneReviews: COL4A3
    Genetic Association Database (GAD): COL4A3
    Human Genome Epidemiology (HuGE) Navigator: COL4A3 (14 documents)

    Export disorders for COL4A3 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 COL4A3 gene, integrated from 9 sources (see all 209):
    (articles sorted by number of sources associating them with COL4A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of the human Goodpasture antigen demonstrates it to be the alpha 3 chain of type IV collagen. (PubMed id 1737849)1, 2, 3, 9 Turner N....Pusey C.D. (1992)
    2. Polymorphisms in COL4A3 and COL4A4 genes associated w ith keratoconus. (PubMed id 20029656)1, 4, 9 Stabuc-Silih M....Strazisar M. (2009)
    3. Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas. (PubMed id 15492988)1, 2, 9 Caudroy S.... Birembaut P. (2004)
    4. Patients with Goodpasture's disease have two normal COL4A3 alleles encoding the NC1 domain of the type IV collagen alpha 3 chain. (PubMed id 15199166)1, 4, 9 Persson U....Segelmark M. (2004)
    5. Human tumstatin and human endostatin exhibit distinct antiangiogenic activities mediated by alpha v beta 3 and alpha 5 beta 1 integrins. (PubMed id 12682293)1, 2, 9 Sudhakar A.... Kalluri R. (2003)
    6. Two RGD-independent alpha vbeta 3 integrin binding sites on tumstatin regulate distinct anti-tumor properties. (PubMed id 10837460)1, 2, 9 Maeshima Y.... Kalluri R. (2000)
    7. Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome. (PubMed id 7987301)1, 2, 9 Lemmink H.H.... Smeets H.J.M. (1994)
    8. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). (PubMed id 14871398)1, 4, 9 Wang Y.Y....Savige J. (2004)
    9. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. (PubMed id 11961012)1, 2, 9 Badenas C.... Torra R. (2002)
    10. Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. (PubMed id 9537506)1, 2, 9 Momota R....Ninomiya Y. (1998)

    (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: 1285 HGNC: 2204 AceView: COL4A3 Ensembl:ENSG00000169031 euGenes: HUgn1285
    ECgene: COL4A3 Kegg: 1285 H-InvDB: COL4A3

    (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 COL4A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL4A3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL4A3 gene:
    Search GeneIP for patents involving COL4A3

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



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    About This Section

     
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