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    COL4A2 collagen, type IV, alpha 2 [ Homo sapiens ]

    Gene ID: 1284, updated on 12-May-2012
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    Summary

    Official Symbol
    COL4A2provided by HGNC
    Official Full Name
    collagen, type IV, alpha 2provided by HGNC
    Primary source
    HGNC:2203
    Locus tag
    RP11-90L1.2
    See related
    Ensembl:ENSG00000134871; HPRD:00355; MIM:120090; Vega:OTTHUMG00000017344
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ICH; POREN2; FLJ22259; DKFZp686I14213
    Summary
    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]
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    Genomic context

    Location :
    13q34
    Sequence :
    Chromosome: 13; NC_000013.10 (110959631..111165374)
    See COL4A2 in Epigenomics, MapViewer

    Chromosome 13 - NC_000013.10Genomic Context describing neighboring genes Neighboring gene insulin receptor substrate 2 Neighboring gene collagen, type IV, alpha 1 Neighboring gene COL4A2 antisense RNA 2 (non-protein coding) Neighboring gene RAB20, member RAS oncogene family Neighboring gene carbohydrate kinase domain containing

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke. Jeanne M, et al. Am J Hum Genet, 2012 Jan 13. PMID 22209247.
    2. De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly. Yoneda Y, et al. Am J Hum Genet, 2012 Jan 13. PMID 22209246.
    3. Proteomic dissection of the von Hippel-Lindau (VHL) interactome. Lai Y, et al. J Proteome Res, 2011 Nov 4. PMID 21942715.
    4. A directed protein interaction network for investigating intracellular signal transduction. Vinayagam A, et al. Sci Signal, 2011 Sep 6. PMID 21900206.
    5. Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus. Karolak JA, et al. Mol Vis, 2011 Mar 30. PMID 21527998.

    See all (72) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. The data suggested that COL4A2 mutations impair COL4A1 and COL4A2 secretion and can also result in cytotoxicity. The findings also suggested that, collectively, mutations in COL4A1 and COL4A2 contribute to sporadic cases of intracerebral hemorrhage.
      Title: COL4A2 mutations impair COL4A1 and COL4A2 secretion and cause hemorrhagic stroke.
    2. this study confirmed that abnormalities of the alpha1alpha1alpha2 heterotrimers of type IV collagen cause porencephaly and stresses the importance of screening for COL4A2 as well as for COL4A1.
      Title: De novo and inherited mutations in COL4A2, encoding the type IV collagen α2 chain cause porencephaly.
    3. Screening of COL4A1 and COL4A2 revealed numerous alterations in coding and non-coding regions of both genes in keratoconus patients. None of the identified sequence variants completely segregated with the affected keratoconus phenotype.
      Title: Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
    4. COL4A2 was overexpressed in the ER-negative breast cancer group.
      Title: Molecular anatomy of breast cancer stroma and its prognostic value in estrogen receptor-positive and -negative cancers.
    5. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
    6. Data showed that miR-29a negatively regulated collagen IV by directly targeting the 3'UTRs of col4a1 and col4a2.
      Title: High glucose down-regulates miR-29a to increase collagen IV production in HK-2 cells.
    7. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
      Title: Human variation in alcohol response is influenced by variation in neuronal signaling genes.
    8. Observational study of gene-disease association. (HuGE Navigator)
      Title: A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM).
    9. E1B-55kD-deleted oncolytic adenovirus armed with canstatin gene yields an enhanced anti-tumor efficacy on pancreatic cancer.
      Title: E1B-55kD-deleted oncolytic adenovirus armed with canstatin gene yields an enhanced anti-tumor efficacy on pancreatic cancer.
    10. The co-detection of alpha5 and alpha2 chains of collagen IV in frozen skin biopsies is therefore proposed as a simple technique to diagnose Alport syndrome.
      Title: [Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies].
    Submit: New GeneRIF Correction See all (17)
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    Phenotypes

    Review eQTL and phenotype association data in this region using PheGenI

    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.

    Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.

    Porencephaly 2

    Stroke, hemorrhagic

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 and serum-free macrophage supernatant (MSP) enhance synthesis of type IV collagen by mesangial cells; anti-TGF-beta antibodies attenuate this gp160/MSP-induced collagen synthesis PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P08572 P58335 ANTXR2    HPRD  PubMed  
    P08572 P05067 APP    HPRD  PubMed  
    P08572 Activating transcription factor 7 interacting protein ATF7IP    HPRD  PubMed  
    P08572 P21810 BGN    HPRD  PubMed  
    P08572 P12645 BMP3    HPRD  PubMed  
    P08572 Q9NPY3 CD93    HPRD  PubMed  
    P08572 P02462 COL4A1    HPRD  PubMed  
    P08572 P08572 COL4A2    HPRD  PubMed  
    P08572 Q96IP4 FAM46A    HPRD  PubMed  
    P08572 P98095 FBLN2    HPRD  PubMed  
    P08572 P02751 FN1    HPRD  PubMed  
    P08572 Q14520 HABP2    HPRD  PubMed  
    P08572 O00339 MATN2    HPRD  PubMed  
    P08572 P14780 MMP9    HPRD  PubMed  
    P08572 P13725 OSM    HPRD  PubMed  
    P08572 Serum Amyloid A1 SAA1    HPRD  PubMed  
    P08572 P07093 SERPINE2    HPRD  PubMed  
    P08572 P12757 SKIL    HPRD  PubMed  
    P08572 Q15582 TGFBI    HPRD  PubMed  
    BioGRID:107681 BioGRID:106807 ANXA7    BioGRID  PubMed Two-hybrid 
    BioGRID:107681 BioGRID:107679 COL4A1    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107681 BioGRID:107681 COL4A2    BioGRID  PubMed Co-crystal Structure 
    BioGRID:107681 BioGRID:107843 CSNK2B    BioGRID  PubMed Two-hybrid 
    BioGRID:107681 BioGRID:115143 DAZAP2    BioGRID  PubMed Two-hybrid 
    BioGRID:107681 BioGRID:112490 SMN1    BioGRID  PubMed Two-hybrid 
    BioGRID:107681 BioGRID:112938 TK1    BioGRID  PubMed Two-hybrid 
    BioGRID:107681 BioGRID:113269 VHL    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Pathways in cancer, organism-specific biosystem (from KEGG)
      Pathways in cancer, organism-specific biosystem
      Pathways in cancer
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • Small cell lung cancer, organism-specific biosystem (from KEGG)
      Small cell lung cancer, organism-specific biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...
    • Small cell lung cancer, conserved biosystem (from KEGG)
      Small cell lung cancer, conserved biosystemLung cancer is a leading cause of cancer death among men and women in industrialized countries. Small cell lung carcinoma (SCLC) is a highly aggressive neoplasm, which accounts for approximately 25% ...

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    extracellular matrix structural constituent TAS
    Traceable Author Statement
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    cellular response to transforming growth factor beta stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular matrix organization NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    negative regulation of angiogenesis IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    transcription, DNA-dependent IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen type IV TAS
    Traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		  
    colocalizes_with extracellular matrix ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    colocalizes_with extracellular matrix TAS
    Traceable Author Statement
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
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    General protein information

    Preferred Names
    collagen alpha-2(IV) chain
    Names
    collagen alpha-2(IV) chain
    canstatin
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032137.1 RefSeqGene

      Range
      5001..210744
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001846.2 → NP_001837.2  collagen alpha-2(IV) chain preproprotein

      Status: REVIEWED

      Source sequence(s)
      AL139385, BX648393, BY795218, CB045156, CB148713, CK000715, CN397790, CN397808, CN397819, M24766, X05562
      Consensus CDS
      CCDS41907.1
      UniProtKB/Swiss-Prot
      P08572
      Related
      ENSP00000353654, OTTHUMP00000018700, ENST00000360467, OTTHUMT00000045761
      Conserved Domains (2) summary
      cl02467
      Location:1489 – 1596
      Blast Score: 507
      C4; C-terminal tandem repeated domain in type 4 procollagen
      pfam01391
      Location:857 – 916
      Blast Score: 85
      Collagen; Collagen triple helix repeat (20 copies)

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000013.10 Reference GRCh37.p5 Primary Assembly

      Range
      110959631..111165374
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000145.1 Alternate HuRef

      Range
      91559092..91764904
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AL139385.12 CAI17005.2
    genomic AL159153.17 CAH72050.2
      CAM15930.1
    genomic AL161773.21 CAH71366.2
      CAM14223.1
    genomic AL161773.21 CAH71366.2
      CAM14223.1
    genomic CH471085.1 EAX09111.1
      EAX09112.1
    genomic J04217.1 AAA53097.1
    genomic M36963.1 AAA53099.1
    genomic X12784.1 CAA31275.1
    mRNA AF258350.1 AAF72631.1
    mRNA AF400430.1 AAK92479.1
    mRNA AK025912.1 None
    mRNA AK294920.1 BAG58004.1
    mRNA AY450357.1 AAR20245.1
    mRNA AY455978.1 AAR18250.1
    mRNA BC016166.1 None
    mRNA BC035559.1 None
    mRNA BC080644.1 AAH80644.1
    mRNA BX648393.1 None
    mRNA BY795218.2 None
    mRNA CB045156.1 None
    mRNA CB148713.1 None
    mRNA CK000715.1 None
    mRNA CN397790.1 None
    mRNA CN397808.1 None
    mRNA CN397819.1 None
    mRNA J02760.1 AAA58422.1
    mRNA M24766.1 AAA52043.1
    mRNA X05562.1 CAA29076.1
    mRNA X05610.1 CAA29098.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08572.4 GenPept UniProtKB/Swiss-Prot:P08572
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    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
    Miscellaneous

      Supplemental Content

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