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COL4A2 Gene

protein-coding   GIFtS: 63
GCID: GC13P110958

Collagen, Type IV, Alpha 2

  See COL4A2-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen, Type IV, Alpha 21 2
canstatin1 2
ICH2 5
POREN22 5
Collagen Type IV Alpha 21
Collagen Alpha-2(IV) Chain2

External Ids:    HGNC: 22031   Entrez Gene: 12842   Ensembl: ENSG000001348717   OMIM: 1200905   UniProtKB: P085723   

Export aliases for COL4A2 gene to outside databases

Previous GC identifers: GC13P109319 GC13P105346 GC13P109796 GC13P108657 GC13P109757 GC13P091559


(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 COL4A2 Gene:
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement
membranes. The C-terminal portion of the protein, known as canstatin, is an inhibitor of angiogenesis and tumor
growth. 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, Jul 2008)

GeneCards Summary for COL4A2 Gene:
COL4A2 (collagen, type IV, alpha 2) is a protein-coding gene. Diseases associated with COL4A2 include porencephaly 2, and familial porencephaly. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572
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: Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both
anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells,
reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and
activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins

Gene Wiki entry for COL4A2 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_000013.11  NC_018924.2  NT_009952.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL4A2 gene promoter:
         STAT1   STAT4   STAT1beta   MIF-1   STAT5A   STAT1alpha   STAT2   Sox9   STAT3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL4A2 promoter sequence
   Search Chromatin IP Primers for COL4A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL4A2


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

Entrez Gene cytogenetic band: 13q34   Ensembl cytogenetic band:  13q34   HGNC cytogenetic band: 13q34

COL4A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A2 gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P110958:  view genomic region     (about GC identifiers)

Start:
110,958,159 bp from pter      End:
111,165,374 bp from pter
Size:
207,216 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572 (See protein sequence)
Recommended Name: Collagen alpha-2(IV) chain precursor  
Size: 1712 amino acids; 167553 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
1 PDB 3D structure from and Proteopedia for COL4A2:
1LI1 (3D)    
Secondary accessions: Q14052 Q548C3 Q5VZA9 Q66K23

Explore the universe of human proteins at neXtProt for COL4A2: NX_P08572

Explore proteomics data for COL4A2 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
  • 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
  • Proteolytic processing produces the C-terminal NC1 peptide, canstatin1
  • Glycosylation2 at Ser111, Asn138, Thr1361, Thr1403, Ser1446
  • Modification sites at PhosphoSitePlus

  • See COL4A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_001837.2  
    ENSEMBL proteins: 
     ENSP00000383027   ENSP00000353654  
    Reactome Protein details: P08572

    COL4A2 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for COL4A2 

    COL4A2 Antibody Products:

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    Abcam antibodies for COL4A2 (Q01955, P08572, P02462, P29400, P53420)
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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.
    Search eBioscience for ELISAs for COL4A2 


    (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 P08572

    ProtoNet protein and cluster: P08572

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


    UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572
    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


    Find genes that share domains with COL4A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO4A2_HUMAN, P08572
    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: Canstatin, a cleavage product corresponding to the collagen alpha 2(IV) NC1 domain, possesses both
    anti-angiogenic and anti-tumor cell activity. It inhibits proliferation and migration of endothelial cells,
    reduces mitochondrial membrane potential, and induces apoptosis. Specifically induces Fas-dependent apoptosis and
    activates procaspase-8 and -9 activity. Ligand for alphavbeta3 and alphavbeta5 integrins

         Genatlas biochemistry entry for COL4A2:
    collagen type IV,alpha 2,basement membrane,all tissues,expressed in the dermoepidermal junction during fetal skin
    development

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS8317999
    GO:0005515protein binding IPI12011424
         
    Find genes that share ontologies with COL4A2           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Col4a2):
     cardiovascular system  cellular  embryogenesis  growth/size/body  hematopoietic system 
     homeostasis/metabolism  mortality/aging  nervous system  other  vision/eye 

    Find genes that share phenotypes with COL4A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col4a1/Col4a2Col4a1/tm1Epo for COL4A2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL4A2
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL4A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL4A2

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL4A2:
    hsa-mir-29c-3p (MIRT001926), hsa-mir-615-3p (MIRT040463), hsa-mir-92a-3p (MIRT049302), hsa-mir-10a-5p (MIRT047706), hsa-mir-26b-5p (MIRT029546), hsa-mir-155-5p (MIRT020729), hsa-mir-29a-3p (MIRT003220), hsa-mir-16-5p (MIRT051129)

    Block miRNA regulation of human, mouse, rat COL4A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL4A2 (see all 18):
    hsa-let-7d hsa-miR-202 hsa-miR-29a hsa-miR-29c hsa-miR-486-3p hsa-let-7c hsa-miR-3653 hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOL4A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL4A2

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for COL4A2 (see all 5)
    OriGene ORF clones in mouse, rat for COL4A2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL4A2 (NM_001846)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL4A2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL4A2

    Cell Line
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    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13343) for COL4A2 


    (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
    CO4A2_HUMAN, P08572: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane3
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005587collagen type IV TAS2846280
    GO:0005604basement membrane ----
    GO:0005788endoplasmic reticulum lumen TAS--

    Find genes that share ontologies with COL4A2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for COL4A2 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
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    4Integrin 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
    5ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58


    Find genes that share SuperPaths with COL4A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL4A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A2
        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 COL4A2
        Focal Adhesion

    Selected Reactome Pathways for COL4A2 (see all 12)
        Laminin interactions
    Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation

    1 PharmGKB Pathway for COL4A2
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for COL4A2) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL4A2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Tumor Metastasis in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL4A2

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

    Selected Interacting proteins for COL4A2 (P085721, 2, 3 ENSP000003536544) via UniProtKB, MINT, STRING, and/or I2D (see all 111)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSNK2BP678702, 3MINT-8253176 I2D: score=2 
    ENSG00000206406P678702, 3MINT-8253176 I2D: score=2 
    ENSG00000224398P678702, 3MINT-8253176 I2D: score=2 
    ENSG00000224774P678702, 3MINT-8253176 I2D: score=2 
    ENSG00000228875P678702, 3MINT-8253176 I2D: score=2 
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001525angiogenesis IEA--
    GO:0006351transcription, DNA-templated IEA--
    GO:0007411axon guidance TAS--
    GO:0016525negative regulation of angiogenesis IDA10625665
    GO:0022617extracellular matrix disassembly TAS--

    Find genes that share ontologies with COL4A2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL4A2 (CO4A2)

    3 Novoseek inferred chemical compound relationships for COL4A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    arresten 93.6 3 17182928 (1), 17602710 (1), 15936594 (1)
    iptg 70.6 1 15592653 (1)
    vegf 19.8 1 16685428 (1)



    Find genes that share compounds with COL4A2           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COL4A2 gene: 
    NM_001846.2  

    Unigene Cluster for COL4A2:

    Collagen, type IV, alpha 2
    Hs.508716  [show with all ESTs]
    Unigene Representative Sequence: NM_001846
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000400163 ENST00000480771 ENST00000360467(uc001vqx.3) ENST00000462309
    ENST00000478681 ENST00000494852 ENST00000483683 ENST00000480609 ENST00000463084

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL4A2 (see all 18):
    hsa-let-7d hsa-miR-202 hsa-miR-29a hsa-miR-29c hsa-miR-486-3p hsa-let-7c hsa-miR-3653 hsa-miR-512-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOL4A2 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector: COL4A2 (NM_001846)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL4A2
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat COL4A2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL4A2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL4A2
      QuantiTect SYBR Green Assays in human, mouse, rat COL4A2
      QuantiFast Probe-based Assays in human, mouse, rat COL4A2
    Flow Cytometry
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    eBioscience FlowRNA Probe Sets ( VA1-13343) for COL4A2 

    Additional mRNA sequence: 

    AF258350.1 AF400430.1 AK025912.1 AK294920.1 AY450357.1 AY455978.1 BC016166.1 BC035559.1 
    BC068210.1 BC080644.1 BX648393.1 J02760.1 M24766.1 NR_046583.1 X05562.1 X05610.1 

    Selected DOTS entries (see all 29):

    DT.102838716  DT.95252425  DT.100772424  DT.95369613  DT.97792245  DT.100030776  DT.102838714  DT.92026098 
    DT.120766853  DT.40252427  DT.120767003  DT.40222206  DT.85104996  DT.453387  DT.95369612  DT.120766941 
    DT.120766995  DT.120767000  DT.120766987  DT.120766988  DT.91739271  DT.92017258  DT.97790250  DT.100001157 

    Selected AceView cDNA sequences (see all 663):

    AW131166 AW469455 CK000715 AI540764 CR590491 AA284787 AL602477 AW016093 
    AA458478 AI924989 AW474292 AW016328 BM694396 AI093129 AI610523 BI752584 
    BF594094 BQ896432 AA976560 CA407400 BI871611 BE294488 H39498 AL046355 

    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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    COL4A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL4A2 Expression
    About this image


    COL4A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 21) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             mK4
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
    COL4A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL4A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.508716
        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL4A2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Tumor Metastasis in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL4A2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL4A2
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    QuantiFast Probe-based Assays in human, mouse, rat COL4A2
    In Situ
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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 COL4A2 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a21 , 5 collagen, type IV, alpha 21, 5 81.18(n)1
    83.89(a)1
      8 (5.62 cM)5
    128271  NM_009932.31  NP_034062.31 
     113128055 
    chicken
    (Gallus gallus)
    Aves COL4A21 collagen, type IV, alpha 2 63.64(n)
    64.59(a)
      418752  NM_001162390.1  NP_001155862.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A26
    collagen, type IV, alpha 2
    60(a)
    1 ↔ 1
    1(137350013-137419306)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col4a21 collagen, type IV, alpha 2 58.87(n)
    61.49(a)
      100486079  XM_004911988.1  XP_004912045.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col4a21 collagen, type IV, alpha 2 55.13(n)
    54.12(a)
      553355  XM_682719.6  XP_687811.6 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C1 Collagen type IV 51.44(n)
    50.04(a)
      33727  NM_164617.2  NP_723046.1 
    worm
    (Caenorhabditis elegans)
    Secernentea let-21 , 3 alpha-2 type IV collagen3
    let-21
    72(a)
    (best of 2)3
    53.99(n)1
    53.51(a)1
      X(16411823-16420128)3
    1817081  NM_078262.41  NP_510663.11 


    ENSEMBL Gene Tree for COL4A2 (if available)
    TreeFam Gene Tree for COL4A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL4A2 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    10 SIMAP similar genes for COL4A2 using alignment to 2 protein entries:     CO4A2_HUMAN (see all proteins):
    COL4A4    COL4A6    COL4A1    C1QTNF9    C1QTNF9B    COL4A5
    COL13A1    COL4A3    COL6A2    MARCO

    Find genes that share paralogs with COL4A2           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COL4A2 (see all 6028)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0678384
    Porencephaly 2 (POREN2)4--see VAR_0678382 G D mis40--------
    VAR_0678374
    Porencephaly 2 (POREN2)4--see VAR_0678372 G E mis40--------
    rs1139941031,2
    Cpathogenic191881094(-) CCACCA/TTGGGG 1 -- us2k10--------
    rs1499280791,2
    Cuntested192079608(+) AGCATC/TGGCTA 2 I syn10--------
    rs95216871,2
    C,F,A,H--91879382(+) TCCAAC/ATCAAC 1 -- us2k128Minor allele frequency- A:0.21NS EA NA 3066
    rs1899356981,2
    --91879396(+) AATGCA/GTTTGA 1 -- us2k10--------
    rs1821937841,2
    --91879480(+) AGCTCC/TTACAG 1 -- us2k10--------
    rs726557421,2
    C,F--91879592(+) CAGGCT/GTCACC 1 -- us2k15Minor allele frequency- G:0.26NA WA EA 362
    rs1865473981,2
    --91879613(+) GGAAGA/CGTTCA 1 -- us2k10--------
    rs1910070731,2
    --91879623(+) AATCTG/TTTGGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL4A2 (110958159 - 111165374 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL4A2 (see all 62):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2748022CNV Deletion23290073
    esv2748026CNV Deletion23290073
    esv2667779CNV Deletion23128226
    esv2748023CNV Deletion23290073
    esv2748010CNV Deletion23290073
    esv2748005CNV Deletion23290073
    esv2748021CNV Deletion23290073
    esv2748015CNV Deletion23290073
    esv2279017CNV Deletion18987734
    esv2748033CNV Deletion23290073

    Human Gene Mutation Database (HGMD): COL4A2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL4A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 120090   
    OMIM disorders: 614483  614519  
    UniProtKB/Swiss-Prot: CO4A2_HUMAN, P08572
  • Porencephaly 2 (POREN2) [MIM:614483]: A neurologic disorder characterized by a fluid-filled cysts or
    cavities within the cerebral hemispheres. Affected individuals typically have hemiplegia, seizures, and
    intellectual disability. Porencephaly type 2, or schizencephalic porencephaly, is usually symmetric and
    represents a primary defect in the development of the cerebral ventricles. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Intracerebral hemorrhage (ICH) [MIM:614519]: A pathological condition characterized by bleeding into one
    or both cerebral hemispheres including the basal ganglia and the cerebral cortex. It is often associated with
    hypertension and craniocerebral trauma. Intracerebral bleeding is a common cause of stroke. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • 7 diseases for COL4A2:    
    About MalaCards
    porencephaly 2    familial porencephaly    ariboflavinosis    hemorrhage, intracerebral
    porencephaly    glucosephosphate dehydrogenase deficiency    thin basement membrane nephropathy


    Find genes that share disorders with COL4A2           About GenesLikeMe

    5 Novoseek inferred disease relationships for COL4A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    melanoma 33.2 1 15974811 (1)
    tumors 30.7 19 15120609 (3), 19838634 (3), 10625665 (3), 17557121 (2) (see all 10)
    neovascularization 24.2 3 15120609 (1), 14680836 (1)
    solid tumor 13.4 2 15120609 (1), 16630405 (1)
    metastasis 0 1 15120609 (1)

    Genetic Association Database (GAD): COL4A2
    Human Genome Epidemiology (HuGE) Navigator: COL4A2 (8 documents)

    Export disorders for COL4A2 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 COL4A2 gene, integrated from 10 sources (see all 116):
    (articles sorted by number of sources associating them with COL4A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Human collagen genes encoding basement membrane alpha 1 (IV) and alpha 2 (IV) chains map to the distal long arm of chromosome 13. (PubMed id 3025878)1, 2, 3 Griffin C.A.... Myers J.C. (Proc. Natl. Acad. Sci. U.S.A. 1987)
    2. Duplication of type IV collagen COOH-terminal repeats and species- specific expression of alpha 1(IV) and alpha 2(IV) collagen genes. (PubMed id 2439508)1, 2, 3 Myers J.C.... Macarak E.J. (J. Biol. Chem. 1987)
    3. Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PubMed id 10625665)1, 2, 9 Kamphaus G.D.... Kalluri R. (J. Biol. Chem. 2000)
    4. Identification of a novel sequence element in the common promoter region of human collagen type IV genes, involved in the regulation of divergent transcription. (PubMed id 8317999)1, 2, 9 Fischer G.... Poeschl E. (Biochem. J. 1993)
    5. COL4A2 mutation associated with familial porencephaly and small- vessel disease. (PubMed id 22333902)1, 2 Verbeek E.... Mancini G.M. (Eur. J. Hum. Genet. 2012)
    6. De novo and inherited mutations in COL4A2, encoding the type IV collagen alpha2 chain cause porencephaly. (PubMed id 22209246)1, 2 Yoneda Y.... Saitsu H. (Am. J. Hum. Genet. 2012)
    7. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. (PubMed id 22209247)1, 2 Jeanne M....Gould D.B. (Am. J. Hum. Genet. 2012)
    8. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. (PubMed id 21527998)1, 2 Karolak J.A.... Gajecka M. (Mol. Vis. 2011)
    9. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (Nat. Genet. 2011)
    10. Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction. (PubMed id 22144573)1, 4 O'Donnell C.J....Witteman J.C. (Circulation 2011)

    (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: 1284 HGNC: 2203 AceView: COL4A2 Ensembl:ENSG00000134871 euGenes: HUgn1284
    ECgene: COL4A2 Kegg: 1284 H-InvDB: COL4A2

    (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 COL4A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL4A2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL4A2 gene:
    Search GeneIP for patents involving COL4A2

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



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