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

COL4A3 Gene

protein-coding   GIFtS: 64
GCID: GC02P227993

collagen, type IV, alpha 3 (Goodpasture antigen)
 Explore 34 diseases affiliated with
COL4A3 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL4A3    

Aliases
for COL4A3 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type IV, Alpha 3 (Goodpasture Antigen)1 2
Collagen Alpha-3(IV) Chain2
Collagen IV, Alpha-3 Polypeptide2
Tumstatin1
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


Summaries
for COL4A3 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for COL4A3:
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)

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)


Genomic Views
for COL4A3 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
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 plasmid: COL4A3 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

Proteins
for COL4A3 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q01955

    • COL4A3 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000082.2  
    ENSEMBL proteins: 
     ENSP00000379823   ENSP00000302781  
    Reactome Protein details: Q01955
    Human Recombinant Protein Products: 
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    ProSpec Recombinant Protein for COL4A3
    Browse Proteins at Uscn

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005587collagen type IV IDA10766752
    GO:0005604basement membrane IDA10766752
    GO:0005788endoplasmic reticulum lumen TAS--


    COL4A3 for ontologies           About GeneDecksing



    COL4A3 Antibody Products: 
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    Assay Products for COL4A3: 
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    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for COL4A3 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL4A3 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for COL4A3 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL4A3
    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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL4A3 (see all 7)
    OriGene shRNA RFP: COL4A3
    OriGene siRNA: COL4A3
    QIAGEN FlexiTube/FlexiPlate 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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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL4A3 (see all 3)
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    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    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 

    Cell Line
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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

    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 IPI12682293
    GO:0008191metalloendopeptidase inhibitor activity NAS10766752


    COL4A3 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for COL4A3: Col4a3tm1Jhm Col4a3tm1Dec
         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


    Pathways & Interactions
    for COL4A3 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Integrin outside-in signaling0.37
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cell adhesion_Endothelial cell contacts by non-junctional mechanisms0.21
    		Cytoskeleton remodeling_Integrin outside-in signaling0.37
    		Cell adhesion Endothelial cell contacts by non-junctional mechanisms0.21
    2Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    3Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    4Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    5Gelatin degradation by MMP19
    		Gelatin degradation by MMP191.00
    		Anchoring fibril formation0.39
    		Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 130.64

    Pathway sources
    See GeneCards unified pathways
    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

    5/17        Reactome Pathways for COL4A3 (see all 17)
        Developmental Biology
    Assembly of collagen fibrils and other multimeric structures
    Gelatin degradation by MMP19
    Anchoring fibril formation
    Extracellular matrix organization

    1 PharmGKB Pathway for COL4A3
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics


    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): 5/13 biological process terms (GO ID links to tree view) (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006917induction of apoptosis IDA10766752
    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--


    COL4A3 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL4A3 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    COL4A3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for COL4A3
    4 Novoseek 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 

    Transcripts
    for COL4A3 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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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    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
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL4A3 (see all 7)
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    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL4A3
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL4A3

    Additional cDNA 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 M92993 U02520 AA622559 AA702455 BX115261 
    CD102220 AI243241 CD677751 BE468113 BM680591 CA389230 AA287797 BF448104 
    CB957049 BG535003 BM670570 BE669669 BM683763 BM709969 AW058588 CD677290 

    GeneLoc Exon Structure


    Expression
    for COL4A3 gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL4A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGCATTATTT

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

    COL4A3 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyWolffian DuctKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Cardiomyocyte-like cells (Spontaneous differen...)

    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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              Angiogenic Growth Factors in human mouse rat
              Wound Healing in human mouse rat
              Apoptosis 384HT in human mouse rat
              Angiogenesis in human mouse rat

    Primer
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    Orthologs
    for COL4A3 gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for COL4A3 gene from 1/10 species (see all 10)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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 


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

    Paralogs
    for COL4A3 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A3 gene
    COL4A62  COL19A12  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  
    COL16A12  COL4A22  COL5A22  COL5A12  COL22A12  COL7A12  COL1A22  COL27A12  
    COL2A12  COL3A12  COL4A12  COL11A12  
    15 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    C1QTNF9    C1QTNF9B
    COL14A1    DKFZp434L081    MARCO

    COL4A3 for paralogs           About GeneDecksing



    Genomic Variants
    for COL4A3 gene

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

    10/3099 NCBI SNPs in COL4A3 are shown (see all 3099)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219128251,2
    		Cpathogenic227406462(+) GCTGTC/GAACAC 3 S * stg1 int10--------
    rs1219128241,2
    		Cpathogenic227407571(+) ATCAAC/TGAGCC 3 R * int1 stg10--------
    rs1219128261,2
    		Cpathogenic227425370(+) ACCAGA/GAAGCA 3 E G int1 mis10--------
    rs1219128271,2
    		Cpathogenic227426210(+) CAAAGG/TACTAC 3 G V mis1 int10--------
    rs1113155511,2
    		C,--219871988(+) ATTTTG/AGAGTG 1 -- int12Minor allele frequency- A:0.03NA 122
    rs1118103701,2
    		--219871996(+) GTGCCC/TCGACT 1 -- int12Minor allele frequency- T:0.02CSA WA 120
    rs799080841,2
    		--219872683(+) ATGCCC/TGGGTA 1 -- ut511Minor allele frequency- T:0.01NA 120
    rs783351991,2
    		--219874159(+) CATGTT/AGTTTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1116498421,2
    		--219874232(+) TGTTGG/ACCTTT 1 -- us2k11Minor allele frequency- A:0.50CSA 2
    rs1134130061,2
    		--219874280(+) TGTAGG/ACCAGT 1 -- us2k11Minor allele frequency- A:0.50CSA 2

    HapMap Linkage Disequilibrium report for COL4A3 (228029281 - 228179508 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL4A3: --
    Human Gene Mutation Database (HGMD): COL4A3

    SABiosciences Cancer Mutation PCR Assays
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    Disorders / Diseases
    for COL4A3 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COL4A3 for disorders           About GeneDecksing

    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
  • Defects in COL4A3 are a cause of Alport syndrome autosomal recessive (APSAR) [MIM:203780]. APSAR is
    • 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
  • Defects in COL4A3 are a cause of benign familial hematuria (BFH) [MIM:141200]; also known as thin basement
    • membrane nephropathy. BFH is characterized by persistent hematuria, an electron microscopically detectable thin
    glomerular basement membrane (GBM) and an autosomal dominant mode of inheritance. Renal function remains normal. In
    children, differentiation between BFH and AS can be difficult, because both disorders are manifested by persistent
    hematuria and thin GBM at that age
  • Defects in COL4A3 are a cause of Alport syndrome autosomal dominant (APSAD) [MIM:104200]. Alport syndrome is
    • 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

    20/34 diseases for COL4A3 (see all 34):    About MalaCards
    alport syndrome    goodpasture syndrome    hematuria, benign familial    snowflake vitreoretinal degeneration
    vitreoretinal degeneration    autosomal dominant alport syndrome    autosomal recessive alport syndrome    focal segmental glomerulosclerosis
    hematuria    abdominal aortic aneurysm    aortic aneurysm    oral squamous cell carcinoma
    cerebral arteritis    corneal dystrophy    squamous cell carcinoma    leiomyomatosis
    glomerulosclerosis    glomerulonephritis    proteinuria    nephritis

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

    10/17 Novoseek 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
    Collagen IV-Related Nephropathies (Alport Syndrome and Thin Basement Membrane Nephropathy)

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

    Export disorders for COL4A3 gene to outside databases

    Publications
    for COL4A3 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL4A3 gene, integrated from 9 sources (see all 203):
    (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. Implication of tumstatin in tumor progression of human bronchopulmonary carcinomas. (PubMed id 15492988)1, 2, 9 Caudroy S.... Birembaut P. (2004)
    3. 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)
    4. 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)
    5. 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)
    6. 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)
    7. COL4A3 mutations and their clinical consequences in thin basement membrane nephropathy (TBMN). (PubMed id 14871398)1, 4, 9 Wang Y.Y....Savige J. (2004)
    8. Mutations in the COL4A4 and COL4A3 genes cause familial benign hematuria. (PubMed id 11961012)1, 2, 9 Badenas C.... Torra R. (2002)
    9. 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)
    10. Novel COL4A5, COL4A4, and COL4A3 mutations in Alport syndrome. (PubMed id 15954103)1, 2, 9 Nagel M.... Gross O. (2005)

    External Searches for COL4A3 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
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      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing COL4A3 gene

    (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 H-InvDB: COL4A3

    Other Databases showing COL4A3 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL4A3 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for 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

    Intellectual Property
    for COL4A3 gene

    (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:
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