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COL4A3 Gene

protein-coding   GIFtS: 69
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)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 goodpasture syndrome, and col4a3-related nephropathy. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   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 Chromatin IP Primers for COL4A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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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)
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: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains1
  • Isoform 2 contains an additional N-linked glycosylation site1
  • 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 collagens1
  • The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By
    similarity)1
  • Phosphorylated by the Goodpasture antigen-binding protein/COL4A3BP1
  • Ubiquitination2 at Lys1414
  • Glycosylation2 at Asn253
  • Modification sites at PhosphoSitePlus

  • See COL4A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000082.2  
    ENSEMBL proteins: 
     ENSP00000379823   ENSP00000302781  
    Reactome Protein details: Q01955

    COL4A3 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for COL4A3
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    COL4A3 Antibody Products:

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    Novus Biologicals COL4A3 Antibody
    Abcam antibodies for COL4A3 (Q01955, P08572, P02462, P29400, P53420)
    Browse Antibodies at Cloud-Clone Corp.
    Search ThermoFisher Antibodies for COL4A3
    LSBio Antibodies in human, mouse, rat for COL4A3

    COL4A3 Assay Products:

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

    3 InterPro protein domains:
     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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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:    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 4 alleles(MGI details for Col4a3):
     behavior/neurological  cardiovascular system  growth/size/body  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: Let us create your new Knockout/Knockin mouse model for COL4A3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models 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
    Products:
        
    miRTarBase miRNAs that target COL4A3:
    hsa-mir-10a-5p (MIRT047553)

    Block miRNA regulation of human, mouse, rat COL4A3 using miScript Target Protectors
    Selected qRT-PCR 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
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL4A3

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL4A3

    Clone
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    GenScript: all cDNA clones in your preferred vector: COL4A3 (NM_000091)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL4A3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL4A3

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A3


    (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
    CO4A3_HUMAN, Q01955: 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    nucleus3
    cytosol1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    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


    (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 COL4A3 About   (see all 22)  
    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
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    3Integrin 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
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe 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


    Selected Reactome Pathways for COL4A3 (see all 11)
        Laminin interactions
    Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation

    1 PharmGKB Pathway for COL4A3
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Selected 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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL4A3: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Angiogenic Growth Factors in human mouse rat
              Wound Healing in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for COL4A3

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

    Selected Interacting proteins for COL4A3 (Q019553 ENSP000003798234) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    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): Selected biological process terms (see all 16):    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, 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 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)



    COL4A3 for compounds           About GeneDecksing



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for 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

    miRNA
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    Selected qRT-PCR 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
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      QuantiTect SYBR Green Assays in human, mouse, rat COL4A3
      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 

    Selected AceView cDNA sequences (see all 60):

    BM717659 BM671116 M92993 AF258351 U02520 AL036294 CD677290 CB957049 
    CB985668 BU739220 BX646031 AW058588 X80031 BX118233 BM700456 BM709969 
    AI473718 U02519 BM683763 CA777036 BX115261 CA389230 AA287797 AI243241 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COL4A3 expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 2) fully expand
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Podocytes Podocyte Layer
             Wolffian Duct
     
     Epithelial Cells
             Podocytes Podocyte Layer
    COL4A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL4A3 Protein Expression

    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

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for COL4A3 gene from Selected 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 81.49(n)1
    78.9(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) 61.63(n)
    59.79(a)
      424797  XM_001234729.3  XP_001234730.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A36
    collagen, type IV, alpha 3 (Goodpasture antigen)
    58(a)
    1 ↔ 1
    3(23464166-23573541)
    zebrafish
    (Danio rerio)
    Actinopterygii col4a36
    collagen, type IV, alpha 3
    45(a)
    1 ↔ 1
    15(35322704-35380634) ENSDARG00000003395
    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)
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    Paralogs for COL4A3 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    10 SIMAP similar genes for COL4A3 using alignment to 3 protein entries:     CO4A3_HUMAN (see all proteins):
    COL4A5    COL4A1    COLQ    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), 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 COL4A3 (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
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL4A3
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A3

    (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.)
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    OMIM gene information: 120070   
    OMIM disorders: 203780  141200  104200  
    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

  • Selected diseases for COL4A3 (see all 38):    
    About MalaCards
    goodpasture syndrome    col4a3-related nephropathy    autosomal dominant alport syndrome    cerebral arteritis
    thin basement membrane nephropathy    alport syndrome and thin basement membrane nephropathy    alport syndrome    autosomal recessive alport syndrome
    snowflake vitreoretinal degeneration    vitreoretinal degeneration    posterior polymorphous corneal dystrophy    focal segmental glomerulosclerosis
    leiomyomatosis    corneal dystrophy    proteinuria    keratoconus
    abdominal aortic aneurysm    sensorineural hearing loss    glomerulonephritis    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

    Selected 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)
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    PubMed articles for COL4A3 gene, integrated from 10 sources (see all 213):
    (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. (J. Clin. Invest. 1992)
    2. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. (PubMed id 20029656)1, 4, 9 Stabuc-Silih M....Strazisar M. (Mol. Vis. 2009)
    3. Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas. (PubMed id 15492988)1, 2, 9 Caudroy S.... Birembaut P. (Hum. Pathol. 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. (Nephrol. Dial. Transplant. 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. (Proc. Natl. Acad. Sci. U.S.A. 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. (J. Biol. Chem. 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. (Hum. Mol. Genet. 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. (Kidney Int. 2004)
    9. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. (PubMed id 11961012)1, 2, 9 Badenas C.... Torra R. (J. Am. Soc. Nephrol. 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. (FEBS Lett. 1998)

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

    (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 COL4A3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL4A3 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL4A3[genesymbol]

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