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

COL4A2 Gene

protein-coding   GIFtS: 63
GCID: GC13P110958

Collagen, Type IV, Alpha 2

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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type IV, Alpha 21 2
canstatin1 2
Collagen Type IV Alpha 21
ICH2
POREN22
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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 porencephaly, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include extracellular matrix structural constituent and protein binding. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_009952.14  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL4A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: 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
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
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:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide
    bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens
  • UniProtKB: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By
    similarity)
  • UniProtKB: Proteolytic processing produces the C-terminal NC1 peptide, canstatin
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08572

  • COL4A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A2 Protein Expression
    REFSEQ proteins: NP_001837.2  
    ENSEMBL proteins: 
     ENSP00000383027   ENSP00000353654  
    Reactome Protein details: P08572
    Human Recombinant Protein Products for COL4A2: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    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--

    COL4A2 for ontologies           About GeneDecksing



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    Browse CLIAs at Cloud-Clone Corp.


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

    3 InterPro protein domains:
     IPR016187 C-type_lectin_fold
     IPR001442 Collagen_VI_NC
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry 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


    COL4A2 for domains           About GeneDecksing


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

    Molecular Function:

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS8317999
    GO:0005515protein binding IPI12011424
         
    COL4A2 for ontologies           About GeneDecksing


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

    COL4A2 for phenotypes           About GeneDecksing

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

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL4A2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL4A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A2 
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    miRNA
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    8/18 QIAGEN miScript miRNA 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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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A2


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

    SuperPaths for COL4A2 About   (see all 24)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM proteoglycans0.38
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    5Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for COL4A2 (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 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

    5/18        Reactome Pathways for COL4A2 (see all 18)
        Developmental Biology
    Assembly of collagen fibrils and other multimeric structures
    Anchoring fibril formation
    ECM proteoglycans
    Extracellular matrix organization

    1 PharmGKB Pathway for COL4A2
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for COL4A2) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A2 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL4A2

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

    5/105 Interacting proteins for COL4A2 (P085721, 2, 3 ENSP000003536544) via UniProtKB, MINT, STRING, and/or I2D (see all 105)
    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): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

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

    COL4A2 for ontologies           About GeneDecksing



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

    COL4A2 for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about COL4A2 / CO4A2

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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


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    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
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    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 

    24/29 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 

    24/663 AceView cDNA sequences (see all 663):

    AW469455 AW131166 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™, 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

    COL4A2 expression in normal human tissues (normalized intensities)      COL4A2 embryonic expression: see
    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 
     5/21 selected tissues (see all 21) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 15 entries
             Multinuclear Myocytes Lumbar Back Muscles
             skeletal muscle ; myocytes   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Adipose (Muscoskeletal System)    fully expand to see all 2 entries
             breast ; adipocytes   
             Adipocyte   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Hematopoietic Bone Marrow
             Umbilical cord blood-derived mesenchymal stem cells

    See COL4A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A2

    SOURCE GeneReport for Unigene cluster: Hs.508716
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL4A2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Tumor Metastasis in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A2

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

    This gene was present in the common ancestor of animals.

    Orthologs for COL4A2 gene from 6/13 species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia 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 63.7(n)
    64.65(a)
      418752  NM_001162390.1  NP_001155862.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A26
    Uncharacterized protein
    60(a)
    1 ↔ 1
    1(137350013-137419306)
    zebrafish
    (Danio rerio)
    Actinopterygii col4a21 collagen, type IV, alpha 2 56.18(n)
    54.85(a)
      553355  XM_682719.5  XP_687811.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C6
    Collagen type IV
    36(a)
    1 → many
    2L(5029609-5037279)
    worm
    (Caenorhabditis elegans)
    Secernentea let-23 alpha-2 type IV collagen 72(a)
    (best of 2)
      X(16411823-16420128)   --


    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)
    About This Section
    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

    COL4A2 for paralogs           About GeneDecksing



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

    10/6028 SNPs in COL4A2 are shown (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--------
    VAR_0675564
    ----see VAR_0675562 G R mis40--------
    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--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/62 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 120090    OMIM disorders: --

    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

  • 20/34 diseases for COL4A2 (see all 34):    About MalaCards
    porencephaly 2    porencephaly    familial porencephaly    spastic hemiplegia
    thin basement membrane nephropathy    hemiplegia    alport syndrome    keratoconus
    gigantism    abdominal aortic aneurysm    aortic aneurysm    spasticity
    intellectual disability    intrahepatic cholangiocarcinoma    cholangiocarcinoma    oral squamous cell carcinoma
    myocardial infarction    esophagitis    melanoma    squamous cell carcinoma


    COL4A2 for disorders           About GeneDecksing


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

    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)
    About This Section

    PubMed articles for COL4A2 gene, integrated from 9 sources (see all 114):
    (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. (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. (1987)
    3. Canstatin, a novel matrix-derived inhibitor of angiogenesis and tumor growth. (PubMed id 10625665)1, 2, 9 Kamphaus G.D.... Kalluri R. (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. (1993)
    5. COL4A2 mutation associated with familial porencephaly and small- vessel disease. (PubMed id 22333902)1, 2 Verbeek E.... Mancini G.M. (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. (2012)
    7. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. (PubMed id 22209247)1, 2 Jeanne M....Gould D.B. (2012)
    8. Sequence variants in COL4A1 and COL4A2 genes in Ecuad orian families with keratoconus. (PubMed id 21527998)1, 2 Karolak J.A....Gajecka M. (2011)
    9. Large-scale association analysis identifies 13 new su sceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (2011)
    10. Genome-wide association study for coronary artery calc ification with follow-up in myocardial infarction. (PubMed id 22144573)1, 4 O'Donnell C.J....Witteman J.C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1284 HGNC: 2203 AceView: COL4A2 Ensembl:ENSG00000134871 euGenes: HUgn1284
    ECgene: COL4A2 Kegg: 1284 H-InvDB: COL4A2

    (According to HUGE)
    About This Section
      --

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

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