Atlas of Genetics and Cytogenetics in Oncology and Haematology


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COL1A2 (collagen, type I, alpha 2)

Identity

Other namesOI4
HGNC (Hugo) COL1A2
LocusID (NCBI) 1278
Location 7q21.3
Location_base_pair Starts at 94023873 and ends at 94060544 bp from pter ( according to hg19-Feb_2009)  [Mapping]
Local_order Golgi-associated membrane protein HBET1 is centromeric to COL1A2 and telomeric neighbors include: CAS1 domain containing 1, PEG10 and SGCE (minus strand).

DNA/RNA

 
  Factors regulating baseline transcription of COL1A2 (reprinted with permission from F. Ramirez). Top panel: organization of the COLIA2 gene. Lower panel: COLIA2 promoter.
Description The COL1A2 gene is 36.67 kb and is composed of 52 exons that encode a 5411 base mRNA and a protein of 1366 amino acids.
Transcription See figure summarizing basal transcription for COL1A2.
Cis-acting elements and trans-acting factors found within the proximal promoter, upstream enhancer and downstream repressor regions regulate the constitutive, cytokine-mediated and tissue-specific expression of this gene. The most 5' element around -300, is bound by C/EBP, Ets, AP1 and Sp1. This location contains the GCC-rich sequences which bind Sp1 and upon which COL1A2 promoter activity is highly dependent. Additionally, Ets1 and related Fli1, have differential effects on transcription within this region. Two TCC-rich boxes at -160 and -125 interact with Sp1 and Sp3. The TCC-rich box at -160 acts as a repressor and negatively modulates the downstream TCC-rich box as well as the upstream GCC-rich sequences. The CBF/NFY trimer is a transcriptional activator and binds to the canonical CCAAT motif at -80. RFX proteins bind the promoter at a methylation-sensitive CpG site at +7 and repress COL1A2 promoter activity.
The cytokine, TGF-β is an important regulator of tissue fibrosis and ECM remodeling and resides in the matrix as a latent complex until it is activated. TGF-β upregulates COL1A2 as well as CCN2/CTGF, PAI-1 and TIMP-1 thereby promoting matrix deposition. The TGF-β stimulation of the COL1A2 promoter depends on Sp1, Smad3 / Smad4 and the co-activators of p300/ CBP. In dermal fibroblasts, 5-Fluoruracil (5-FU) was shown to be an inhibitor of TGF-β / SMAD mediated COL1A2 transcription. The anti-fibrotic actions of TNF-α and IFN-γ result in the quenching of the TGB-β response as well as inhibiting the basal transcription of COL1A2.
The tumor suppressor p53, is a modulator of the COL1A2 gene. p53-dependent stress response genes were analyzed in normal cells and tissues that were irradiated against a background of differential p53 expression. In gamma irradiated fibroblasts, Komarova et. al. showed that COL1A2 was upregulated in a p53-dependent manner and functions as a growth repressor. Production of COL1A2 therefore may be partly responsible for the growth suppression that characterizes the "bystander effect" of p53-dependent gene therapy.
In studies using adenovirally-mediated Fli 1 siRNA in human dermal fibroblasts, reduction of Fli1 expression resulted in significant upregulation of both COL1A1 and COL1A2 genes, as well as proteins,and confirmed that Fli 1 is a repressor for collagen type 1. In comparison, TGFβ stimulation resulted in a 2-fold increase of the collagen mRNAs
Stuiver et al (1991) determined that the COL1A2 promoter contains a response element sensitive to the phorbol ester, TPA, an activator of PKC. TPA increased COL1A2 at the transcriptional and protein level only in TPA-responsive 3T3-L1 fibroblasts but not in VT-1 fibroblasts, a variant cell line that is non-responsive to TPA due to the inability of PKC translocation to the membrane.

Protein

 
  One subunit of procollagen Iα2 assembles with two subunits of procollagen Iα1 to form type I procollagen. Proteolytic removal of the N and C terminal propeptides yields mature type I collagen.
Description One alpha2 chain pairs with two alpha1 chains to form the triple helix of type I collagen.
Expression Type I collagen is an abundant structural component of healthy connective tissue. In addition, it is expressed by tumor stromal fibroblasts and vascular cells.
Localisation Type I collagen is a secreted extracellular matrix protein. It is a major structural component of cartilage, bone, dermis and tendons. In cancers, expression is typically seen by stromal fibroblasts and vascular cells infiltrating the tumor.
Function As a structural protein, type I collagen interacts with other matrix proteins including proteoglycans and fibronectin. By binding to the cell surface integrins alpha-1 / beta-1 and alpha-2 / beta-1 type I collagen can anchor cells into the matrix. In addition to its structural roles, type I collagen signaling to cells through its integrin receptors and other cell surface collagen receptors (CD36, inhibitory leukocyte-associated Ig-like receptor (LAIR)-1 (CD305), Endo180 (CD280), and discoidin domain receptors, DDR1 and DDR2) can regulate cell growth, motility, and differentiation.

Mutations

Germinal Multiple independent mutations in COL1A2 occur in patients with osteogenesis imperfecta and in one form of Ehlers-Danlos syndrome. These mutations cause skeletal and cardiovascular defects but are not associated with malignancy.
Somatic In tumors from patients with esophageal squamous carcinoma, loss of heterozygosity was found at a 9% frequency for a nucleotide repeat in the promoter of COL1A2 and at a 12% frequency for a repeat in the first intron of the gene. The effect, if any, of these mutations on tumor progression remains unclear.
Epigenetic regulation of COL1A2 in cancer has been described. Aberrant methylation of COL1A2 was found in about half of primary hepatoma tissues examined.

Implicated in

Entity Tumorigenesis
Note Up- or down-regulation of COL1A2 has been reported in certain cancers. Prior to widespread use of microdissection methods, it was impossible to distinguish changes in tumor cell versus stromal cell expression of COL1A2. In vitro studies have generally shown inhibitory
Roles of tumor cell COL1A2 expression and, as discussed below, promoting roles of stromal cell expression. Thus some of the conflicting data concerning tumor expression may be resolved with better localization of the cells responsible for COL1A2 expression in specific tumors.
Disease Tbx2 is a member of T-box family of transcription factors whose expression is de-regulated in some melanoma, breast and pancreatic cancers. It has been reported by Teng et al (2007) that endogenousTbx2 expression correlates with Col1A2 in several fibroblast cell lines and that overexpression of Tbx2 represses the human COL1A2 in transformed WI-38 fibroblasts and HT1080 human fibrosarcoma cells. Tbx2 appears to act as a co-repressor at a site -107 to +50 on the human COL1A2 promoter. In studies overexpressing murine Tbx2 in NIH3T3 fibroblasts and a rat osteoblastic cell line, Col1α gene was upregulated and downregulated respectively .
In primary infiltrating ductal carcinomas, COL1A2 expression in fibroblasts adjacent to breast tumor cells was increased with stage I tumors compared to nearby normal tissue while in stage II and III tumors a decrease in COL1A2 was observed in adjacent stromal fibroblasts. Additionally, co-culture of normal fibroblasts with breast tumor cell lines resulted in down-regulation of collagen mRNA and protein in fibroblasts.
Microarray analysis of medulloblastoma and primitive neuroectodermal tumor (PNET) specimens reveal overexpression of COL1A2 compared to normal brain tissue. Increased collagen type I protein was also found in medulloblastoma .
Expression profiling of microarray data showed an increased COL1A2 expression in gastric adenocarcinomas compared to normal tissue.
Gene silencing as a result of epigenetic modifications such as histone deacetylation and CpG methylation is increasingly being recognized as an important player in cancer development. Treatment with agents that reverse these processes is an emerging area for cancer therapy. In several human hepatoma cell lines, treatment with the histone deacetylase inhibitor, trichostatin A (TSA), upregulated COL1A2 as demonstrated by microarray and qRT-PCR analysis. Several reports have demonstrated the silencing of COL1A2 due to aberrant methylation within the promoter region of COL1A2 and at CpG islands in primary cancer tissues and from several cancer lines including breast cancer, fibrosarcoma, hepatoma and colorectal carcinoma cells. COL1A2 gene transcription was reestablished upon application of the demethylating agent, 5'Aza-dC. Studies such as these that correlate the anticancer effects of TSA and 5'Aza-dC with the upregulation of COL1A2 point to a role for COL1A2 as a candidate tumor suppressor gene.
Upregulation of both COL1A2 gene and protein expression has been shown in several studies by cDNA array, tumor tissue microarray and qRT-PCR analysis in subtypes of malignant pleural mesothelioma tumors as compared to normal mesothelial cell lines and pleural mesothelium.
Serial analysis of gene expression from five samples of gastric cancer by Yasui et al (2004) demonstrated that COL1A1 and COL1A2 were upregulated in these tissues compared to normal epithelium. Also, differential expression of COL1A2 occurred with tumor stage and therefore may be marker for invasion and metastasis.
Expression of COL1A2 was analyzed in different stages of large B-cell lymphomas with cDNA microarrays. Downregulation of COL1A2 was observed in more advanced stages of the disease.
Screening of esophageal squamous cancer patients versus normal controls revealed a loss of heterozygosity in one or two of the polymorphic loci located within the promoter or first intron region of the COL1A2 gene in a total of three patients.
The association between the development of oral submucous fibrosis (OSF), a precancerous condition of the oral cavity, and polymorphisms of collagen genes was examined in patients with a history of betal quid chewing, a habit that is a risk factor for this collagen related disorder. Polymorphisms for both COL1A1 and COL1A2 were noted and correlated with an individual propensity for development of OSF depending on the level of exposure to betal quid.
Increased Ets expression is implicated in ECM remodeling, especially within the context of tumor invasion and metastasis. Overexpression of Ets in human dermal fibroblast cultures suppressed the TGFβ-induced activation of the COL1A2 promoter toward a phenotype of increased matrix breakdown and decreased matrix deposition indicative of several diseases including cancer.
Rearrangements in chromosome band 8q12 are characteristic of lipoblastomas and drive the promoter swapping events in the PLAG1 oncogene. In four lipoblastomas that were examined by Hibbard et al (2000), fusion genes between COL1A2-PLAG1 were identified in each case. Fusion of COL1A2 occurred along the entire coding sequence of PLAG1 and results in a full-length PLAG1 protein and truncated COL1A2 protein product with undetermined functionality. Collagen fibers surround the nodular arrangement of lipoblastomas, and it is possible that the lipoblastoma cells are responsible for the production of this capsule. The COL1A2 promoter, therefore, may play a significant role in lipoblastoma.
A finding in RAS - and EGF -transformed cells is that a variety of genes associated with ECM molecules are repressed including COL1A2. Farnesyltransferase inhibitors were found to upregulate the COL1A2 gene and reverse the phenotype of RAS- transformed NIH3T3 fibroblasts. Consistent with this are studies demonstrating that overexpression of COL1A2 suppresses tumorigenesis in RAS-transformed NIH3T3 cells. It appears then that COL1A2 functions as an EGF/RAS regulated growth repressor.
Oncogenesis The mechanism by which COL1A2 alters tumor growth may involve interactions with collagen receptors on both tumor cells and tumor stromal cells. Studies of the collagen receptor Endo180 have identified roles in tumor growth mediated by its expression on both stromal fibroblasts and breast carcinoma cells. In the latter case, expression of Endo180 enhanced tumor growth. An additional role of stromal collagen is in regulation of tumor angiogenesis as discussed in more detail below.
  
Entity Tumor angiogenesis
Note Three serial analysis of gene expression (SAGE) tags for COL1A2 were significantly more abundant in an analysis of tumor endothelium isolated from human colon carcinomas versus normal endothelium. COL1A1 was also strongly upregulated in tumor endothelium, identifying type I collagen as a potential tumor-endothelium marker. The functional significance of this increased expression was unclear, although early in vitro studies had found that type I collagen is induced during sprouting of post-confluent endothelial cell monolayers. COL1A2 (and COL1A1) was subsequently identified as an important target of the angiogenesis inhibitor thrombospondin-1 (TSP1).
Type I collagen was identified as up-regulated in metabolically labeled proteins secreted by vascular outgrowths from TSP1 null muscle tissue explanted into a 3D collagen gel compared to equivalent explants from wild type mice. Using quantitative RT-PCR, endogenous TSP1 was confirmed to specifically decrease mRNA levels for COL1A1 and COL1A2. Thus, increased angiogenic responses in tissues lacking the angiogenesis inhibitor TSP1 were associated with increased COL1A2 expression. A functional role for this gene expression in the angiogenic switch was then shown using antisense morpholino oligonucleotides to suppress the increased COL1A2 expression in TSP1 null explants. Suppressing either COL1A1 or COL1A2 using antisense morpholino oligonucleotides decreased vascular outgrowth. Therefore, type I collagen gene expression appears to be necessary for angiogenesis, and inhibitors of their expression may inhibit pathological angiogenesis. This is consistent with the known roles of collagen-binding integrins in angiogenesis , up-regulated type I collagen during tube formation in post-confluent 2D endothelial cell cultures, and the hypothesis of Folkman and colleagues that collagen is used as a "mandrill" to organize new blood vessels. Regulation of COL1A1 and COL1A2 via TSP1 may explain the reciprocal regulation of these genes in leiomyomas.
  
Entity Cancer Metastasis
Note COL1A2 was independently identified as one of 17 genes highly correlated with metastatic potential from gene expression profiling applied to a set of 279 tumors of diverse types. COL1A2 was up-regulated in metastatic tumors. Subsequent studies showed that the significance of COL1A2 to this signature is limited to certain cancer sites, but the significance of a microenvironment gene signature that includes COL1A2 for predicting disease-free survival has been confirmed in breast cancers. The COL1A1 gene, which encodes the other subunit of type I collagen, was also found in these metastasis signatures, implying that increased type I collagen protein expression would be associated with increased metastasis. This has been confirmed in human and porcine cutaneous melanomas, where increased expression was found in fibroblasts associated with invasive melanomas. Furthermore, pharmacological inhibition of collagen gene expression in the porcine model limited invasive growth and vascularization of the tumors. Increased COL1A2 and COL1A1 expression were also found in gastric carcinomas. Increased COL1A2 expression was significantly associated with tumor stage in this study. Increased COL1A2 expression was also associated with invasion and metastasis in gastric carcinoma.
Oncogenesis As in regulating tumor growth, the mechanism by which increased COL1A2 expression increases metastasis may involve interactions with collagen receptors on both tumor cells and tumor stromal cells. LNCaP prostate carcinoma cells expressing elevated alpha-2 integrin / beta-1 integrin showed enhanced motility to type I collagen in vitro and developed more frequent bone metastases in vivo.
  

To be noted

Premalignant conditions:
Leiomyomas are benign hypertrophic lesions of the uterus that are characterized by increased type I collagen deposition. Increased COL1A1 and COL1A2 expression is driven at least in part by increased TGFβ expression in leiomyomas, although this overexpression is limited to the proliferative phase of the menstral cycle.
Keloids are benign hypertrophic cutaneous lesions that exhibit a similar dependence on glycolytic metabolism as is characteristic of cancers. Keloid lesions exhibit increased collagen deposition that results in scarring. The increased COL1A2 expression in keloid fibroblasts is driven at least in part by interleukin-6, and the positive effect of IL-6 on COL1A2 transcription in keloid fibroblasts is associated with increased activation of the JAK1 / STAT3 pathway.

External links

Nomenclature
HGNC (Hugo)COL1A2   2198
Cards
AtlasCOL1A2ID411ch7q22
Entrez_Gene (NCBI)COL1A2  1278  collagen, type I, alpha 2
GeneCards (Weizmann)COL1A2
Ensembl (Hinxton)ENSG00000164692 [Gene_View]  chr7:94023873-94060544 [Contig_View]  COL1A2 [Vega]
AceView (NCBI)COL1A2
Genatlas (Paris)COL1A2
WikiGenes1278
SOURCE (Princeton)NM_000089
Genomic and cartography
GoldenPath (UCSC)COL1A2  -  7q21.3   chr7:94023873-94060544 +  7q21.3   [Description]    (hg19-Feb_2009)
EnsemblCOL1A2 - 7q21.3 [CytoView]
Mapping of homologs : NCBICOL1A2 [Mapview]
OMIM120160   130060   166210   166220   166710   225320   259420   
Gene and transcription
Genbank (Entrez)AA457209 AK223175 AK226074 AK297786 AK300194
RefSeq transcript (Entrez)NM_000089
RefSeq genomic (Entrez)AC_000068 AC_000139 NC_000007 NC_018918 NG_007405 NT_007933 NT_079595 NW_001839064 NW_004929332
Consensus coding sequences : CCDS (NCBI)COL1A2
Cluster EST : UnigeneHs.489142 [ NCBI ]
CGAP (NCI)Hs.489142
Alternative Splicing : Fast-db (Paris)GSHG0027521
Alternative Splicing GalleryENSG00000164692
Gene ExpressionCOL1A2 [ NCBI-GEO ]     COL1A2 [ SEEK ]   COL1A2 [ MEM ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP08123 (Uniprot)
NextProtP08123  [Medical]
With graphics : InterProP08123
Splice isoforms : SwissVarP08123 (Swissvar)
Domaine pattern : Prosite (Expaxy)NC1_FIB (PS51461)   
Domains : Interpro (EBI)Collagen    Fib_collagen_C   
Related proteins : CluSTrP08123
Domain families : Pfam (Sanger)COLFI (PF01410)    Collagen (PF01391)   
Domain families : Pfam (NCBI)pfam01410    pfam01391   
Domain families : Smart (EMBL)COLFI (SM00038)  
Domain structure : Prodom (Prabi Lyon)Fib_collagen_C (PD002078)   
DMDM Disease mutations1278
Blocks (Seattle)P08123
Human Protein AtlasENSG00000164692
Peptide AtlasP08123
HPRD00363
IPIIPI00304962   IPI00909936   IPI01014827   IPI00816238   
Protein Interaction databases
DIP (DOE-UCLA)P08123
IntAct (EBI)P08123
FunCoupENSG00000164692
BioGRIDCOL1A2
InParanoidP08123
Interologous Interaction database P08123
IntegromeDBCOL1A2
STRING (EMBL)COL1A2
Ontologies - Pathways
Ontology : AmiGOskeletal system development  blood vessel development  extracellular matrix structural constituent  protein binding  extracellular region  collagen type I  collagen type I  collagen type I  extracellular space  endoplasmic reticulum lumen  transforming growth factor beta receptor signaling pathway  Rho protein signal transduction  blood coagulation  regulation of blood pressure  extracellular matrix disassembly  platelet activation  extracellular matrix organization  collagen fibril organization  collagen catabolic process  protein binding, bridging  extracellular matrix  odontogenesis  identical protein binding  skin morphogenesis  SMAD binding  metal ion binding  platelet-derived growth factor binding  leukocyte migration  extracellular vesicular exosome  protein heterotrimerization  cellular response to amino acid stimulus  
Ontology : EGO-EBIskeletal system development  blood vessel development  extracellular matrix structural constituent  protein binding  extracellular region  collagen type I  collagen type I  collagen type I  extracellular space  endoplasmic reticulum lumen  transforming growth factor beta receptor signaling pathway  Rho protein signal transduction  blood coagulation  regulation of blood pressure  extracellular matrix disassembly  platelet activation  extracellular matrix organization  collagen fibril organization  collagen catabolic process  protein binding, bridging  extracellular matrix  odontogenesis  identical protein binding  skin morphogenesis  SMAD binding  metal ion binding  platelet-derived growth factor binding  leukocyte migration  extracellular vesicular exosome  protein heterotrimerization  cellular response to amino acid stimulus  
Pathways : KEGGPI3K-Akt signaling pathway    Focal adhesion    ECM-receptor interaction    Protein digestion and absorption    Amoebiasis   
REACTOMECOL1A2
Protein Interaction DatabaseCOL1A2
Wikipedia pathwaysCOL1A2
Gene fusion - rearrangments
Rearrangement : COSMICCOL1A2 [7q21.3]  -  PLAG1 [8q12.1]
Rearrangement : TICdbCOL1A2 [7q21.3]  -  COL1A2 [7q21.3]
Rearrangement : TICdbCOL1A2 [7q21.3]  -  COL1A2 [7q21.3]
Rearrangement : TICdbCOL1A2 [7q21.3]  -  PLAG1 [8q12.1]
Rearrangement : TICdbPLAG1 [8q12.1]  -  COL1A2 [7q21.3]
Polymorphisms : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)COL1A2
SNP (GeneSNP Utah)COL1A2
SNP : HGBaseCOL1A2
Genetic variants : HAPMAPCOL1A2
1000_GenomesCOL1A2 
ICGC programENSG00000164692 
Somatic Mutations in Cancer : COSMICCOL1A2 
CONAN: Copy Number AnalysisCOL1A2 
Mutations and Diseases : HGMDCOL1A2
OMIM120160    130060    166210    166220    166710    225320    259420   
GENETestsCOL1A2
Disease Genetic AssociationCOL1A2
Huge Navigator COL1A2 [HugePedia]  COL1A2 [HugeCancerGEM]
Genomic VariantsCOL1A2  COL1A2 [DGVbeta]
Exome VariantCOL1A2
dbVarCOL1A2
ClinVarCOL1A2
snp3D : Map Gene to Disease1278
General knowledge
Homologs : HomoloGeneCOL1A2
Homology/Alignments : Family Browser (UCSC)COL1A2
Phylogenetic Trees/Animal Genes : TreeFamCOL1A2
Chemical/Protein Interactions : CTD1278
Chemical/Pharm GKB GenePA35042
Clinical trialCOL1A2
Cancer Resource (Charite)ENSG00000164692
Other databases
Probes
Litterature
PubMed246 Pubmed reference(s) in Entrez
CoreMineCOL1A2
iHOPCOL1A2

Bibliography

Angiogenesis in vitro.
Folkman J, Haudenschild C.
Nature. 1980 Dec 11;288(5791):551-6.
PMID 6160403
 
Transcriptional activity of the alpha 1(I)-collagen promoter is correlated with the formation of capillary-like structures by endothelial cells in vitro.
Fouser L, Iruela-Arispe L, Bornstein P, Sage EH.
J Biol Chem. 1991 Sep 25;266(27):18345-51.
PMID 1917959
 
Phorbol-ester-mediated expression of the collagen type I pro-alpha 2 gene in mouse 3T3-L1 cells and its absence in a phorbol 12-myristate 13-acetate-non-responsive variant.
Stuiver I, Shimizu Y, Shimizu N.
Biochem J. 1991 Sep 1;278 ( Pt 2):369-73.
PMID 1898329
 
Suppression of tumorigenicity in Ras-transformed fibroblasts by alpha 2(I) collagen.
Travers H, French NS, Norton JD.
Cell Growth Differ. 1996 Oct;7(10):1353-60.
PMID 8891339
 
Gene trapping identifies inhibitors of oncogenic transformation. The tissue inhibitor of metalloproteinases-3 (TIMP3) and collagen type I alpha2 (COL1A2) are epidermal growth factor-regulated growth repressors.
Andreu T, Beckers T, Thoenes E, Hilgard P, von Melchner H.
J Biol Chem. 1998 May 29;273(22):13848-54.
PMID 9593730
 
Stress-induced secretion of growth inhibitors: a novel tumor suppressor function of p53.
Komarova EA, Diatchenko L, Rokhlin OW, Hill JE, Wang ZJ, Krivokrysenko VI, Feinstein E, Gudkov AV.
Oncogene. 1998 Sep 3;17(9):1089-96.
PMID 9764819
 
Elevation of alpha2(I) collagen, a suppressor of Ras transformation, is required for stable phenotypic reversion by farnesyltransferase inhibitors.
Du W, Lebowitz PF, Prendergast GC.
Cancer Res. 1999 May 1;59(9):2059-63.
PMID 10232587
 
Breast tumour cell-induced down-regulation of type I collagen mRNA in fibroblasts.
Fenhalls G, Geyp M, Dent DM, Parker MI.
Br J Cancer. 1999 Dec;81(7):1142-9.
PMID 10584874
 
PLAG1 fusion oncogenes in lipoblastoma.
Hibbard MK, Kozakewich HP, Dal Cin P, Sciot R, Tan X, Xiao S, Fletcher JA.
Cancer Res. 2000 Sep 1;60(17):4869-72.
PMID 10987300
 
Genes expressed in human tumor endothelium.
St Croix B, Rago C, Velculescu V, Traverso G, Romans KE, Montgomery E, Lal A, Riggins GJ, Lengauer C, Vogelstein B, Kinzler KW.
Science. 2000 Aug 18;289(5482):1197-202.
PMID 10947988
 
Differential stromal regulation of MMP-1 expression in benign and malignant keratinocytes.
Airola K, Fusenig NE.
J Invest Dermatol. 2001 Jan;116(1):85-92.
PMID 11168802
 
Microarray analysis of Tbx2-directed gene expression: a possible role in osteogenesis.
Chen J, Zhong Q, Wang J, Cameron RS, Borke JL, Isales CM, Bollag RJ.
Mol Cell Endocrinol. 2001 May 25;177(1-2):43-54.
PMID 11377819
 
Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis.
Chiu CJ, Chang ML, Chiang CP, Hahn LJ, Hsieh LL, Chen CJ.
Cancer Epidemiol Biomarkers Prev. 2002 Jul;11(7):646-53.
PMID 12101112
 
Ets1 is an effector of the transforming growth factor beta (TGF-beta ) signaling pathway and an antagonist of the profibrotic effects of TGF-beta.
Czuwara-Ladykowska J, Sementchenko VI, Watson DK, Trojanowska M.
J Biol Chem. 2002 Jun 7;277(23):20399-408. Epub 2002 Mar 27.
PMID 11919190
 
Infrequent somatic deletion of the 5' region of the COL1A2 gene in oesophageal squamous cell cancer patients.
Dietzsch E, Parker MI.
Clin Chem Lab Med. 2002 Sep;40(9):941-5.
PMID 12435113
 
Microarray analysis of gene-expression profiles in diffuse large B-cell lymphoma: identification of genes related to disease progression.
Nishiu M, Yanagawa R, Nakatsuka S, Yao M, Tsunoda T, Nakamura Y, Aozasa K.
Jpn J Cancer Res. 2002 Aug;93(8):894-901.
PMID 12716467
 
The alpha(1)beta(1) and alpha(2)beta(1) integrins provide critical support for vascular endothelial growth factor signaling, endothelial cell migration, and tumor angiogenesis.
Senger DR, Perruzzi CA, Streit M, Koteliansky VE, de Fougerolles AR, Detmar M.
Am J Pathol. 2002 Jan;160(1):195-204.
PMID 11786413
 
Interactions of cytokines, growth factors, and the extracellular matrix in the cellular biology of uterine leiomyomata.
Sozen I, Arici A.
Fertil Steril. 2002 Jul;78(1):1-12. Review.
PMID 12095482
 
Molecular aspects of scleroderma.
Trojanowska M.
Front Biosci. 2002 Mar 1;7:d608-18. Review.
PMID 11861221
 
A molecular signature of metastasis in primary solid tumors.
Ramaswamy S, Ross KN, Lander ES, Golub TR.
Nat Genet. 2003 Jan;33(1):49-54. Epub 2002 Dec 9.
PMID 12469122
 
Gene expression profiling of malignant mesothelioma.
Singhal S, Wiewrodt R, Malden LD, Amin KM, Matzie K, Friedberg J, Kucharczuk JC, Litzky LA, Johnson SW, Kaiser LR, Albelda SM.
Clin Cancer Res. 2003 Aug 1;9(8):3080-97.
PMID 12912960
 
5-fluorouracil blocks transforming growth factor-beta-induced alpha 2 type I collagen gene (COL1A2) expression in human fibroblasts via c-Jun NH2-terminal kinase/activator protein-1 activation.
Wendling J, Marchand A, Mauviel A, Verrecchia F.
Mol Pharmacol. 2003 Sep;64(3):707-13.
PMID 12920208
 
Cell growth inhibition and gene expression induced by the histone deacetylase inhibitor, trichostatin A, on human hepatoma cells.
Chiba T, Yokosuka O, Fukai K, Kojima H, Tada M, Arai M, Imazeki F, Saisho H.
Oncology. 2004;66(6):481-91.
PMID 15452378
 
Gene expression profile of gastric carcinoma: identification of genes and tags potentially involved in invasion, metastasis, and carcinogenesis by serial analysis of gene expression.
Oue N, Hamai Y, Mitani Y, Matsumura S, Oshimo Y, Aung PP, Kuraoka K, Nakayama H, Yasui W.
Cancer Res. 2004 Apr 1;64(7):2397-405.
PMID 15059891
 
Search for new biomarkers of gastric cancer through serial analysis of gene expression and its clinical implications.
Yasui W, Oue N, Ito R, Kuraoka K, Nakayama H.
Cancer Sci. 2004 May;95(5):385-92. Review.
PMID 15132764
 
Identification and investigation of methylated genes in hepatoma.
Chiba T, Yokosuka O, Fukai K, Hirasawa Y, Tada M, Mikata R, Imazeki F, Taniguchi H, Iwama A, Miyazaki M, Ochiai T, Saisho H.
Eur J Cancer. 2005 May;41(8):1185-94.
PMID 15911243
 
L1CAM, INP10, P-cadherin, tPA and ITGB4 over-expression in malignant pleural mesotheliomas revealed by combined use of cDNA and tissue microarray.
Kettunen E, Nicholson AG, Nagy B, Wikman H, Seppänen JK, Stjernvall T, Ollikainen T, Kinnula V, Nordling S, Hollmen J, Anttila S, Knuutila S.
Carcinogenesis. 2005 Jan;26(1):17-25. Epub 2004 Sep 24.
PMID 15447976
 
Collagen alpha1(I) gene (COL1A1) is repressed by RFX family.
Sengupta P, Xu Y, Wang L, Widom R, Smith BD.
J Biol Chem. 2005 Jun 3;280(22):21004-14. Epub 2005 Mar 23.
PMID 15788405
 
Molecular-pathological prognostic factors of gastric cancer: a review.
Yasui W, Oue N, Aung PP, Matsumura S, Shutoh M, Nakayama H.
Gastric Cancer. 2005;8(2):86-94. Review.
PMID 15864715
 
Cell cycle regulation of the T-box transcription factor tbx2.
Bilican B, Goding CR.
Exp Cell Res. 2006 Jul 15;312(12):2358-66.
PMID 16730707
 
Type I collagen receptor (alpha 2 beta 1) signaling promotes the growth of human prostate cancer cells within the bone.
Hall CL, Dai J, van Golen KL, Keller ET, Long MW.
Cancer Res. 2006 Sep 1;66(17):8648-54.
PMID 16951179
 
Fli1 and Ets1 have distinct roles in connective tissue growth factor/CCN2 gene regulation and induction of the profibrotic gene program.
Nakerakanti SS, Kapanadze B, Yamasaki M, Markiewicz M, Trojanowska M.
J Biol Chem. 2006 Sep 1;281(35):25259-69. Epub 2006 Jul 6.
PMID 16829517
 
Transcriptional regulation of the human alpha2(I) collagen gene (COL1A2), an informative model system to study fibrotic diseases.
Ramirez F, Tanaka S, Bou-Gharios G.
Matrix Biol. 2006 Aug;25(6):365-72. Epub 2006 May 23. Review.
PMID 16815696
 
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Zhou L, Isenberg JS, Cao Z, Roberts DD.
Oncogene. 2006 Jan 26;25(4):536-45.
PMID 16247480
 
Thrombospondin-1 and thrombospondin-2 mRNA and TSP-1 and TSP-2 protein expression in uterine fibroids and correlation to the genes COL1A1 and COL3A1 and to the collagen cross-link hydroxyproline.
Behera MA, Feng L, Yonish B, Catherino W, Jung SH, Leppert P.
Reprod Sci. 2007 Dec;14(8 Suppl):63-76. Erratum in: Reprod Sci. 2008 Jan;15(1):97.
PMID 18089612
 
Functional implications of the IL-6 signaling pathway in keloid pathogenesis.
Ghazizadeh M, Tosa M, Shimizu H, Hyakusoku H, Kawanami O.
J Invest Dermatol. 2007 Jan;127(1):98-105. Epub 2006 Oct 5.
PMID 17024100
 
A role for Tbx2 in the regulation of the alpha2(1) collagen gene in human fibroblasts.
Teng H, Davis E, Abrahams A, Mowla S, Parker MI, Prince S.
J Cell Biochem. 2007 Oct 15;102(3):618-25.
PMID 17407139
 
Molecular basis of the differences between normal and tumor tissues of gastric cancer.
Yang S, Shin J, Park KH, Jeung HC, Rha SY, Noh SH, Yang WI, Chung HC.
Biochim Biophys Acta. 2007 Sep;1772(9):1033-40. Epub 2007 May 31.
PMID 17601708
 
The collagen receptor Endo180 (CD280) Is expressed on basal-like breast tumor cells and promotes tumor growth in vivo.
Wienke D, Davies GC, Johnson DA, Sturge J, Lambros MB, Savage K, Elsheikh SE, Green AR, Ellis IO, Robertson D, Reis-Filho JS, Isacke CM.
Cancer Res. 2007 Nov 1;67(21):10230-40.
PMID 17974964
 
Metastasis signatures: genes regulating tumor-microenvironment interactions predict metastatic behavior.
Albini A, Mirisola V, Pfeffer U.
Cancer Metastasis Rev. 2008 Mar;27(1):75-83. Review.
PMID 18046511
 
Type I collagen is overexpressed in medulloblastoma as a component of tumor microenvironment.
Liang Y, Diehn M, Bollen AW, Israel MA, Gupta N.
J Neurooncol. 2008 Jan;86(2):133-41. Epub 2007 Jul 25.
PMID 17653508
 
Type I collagen expression contributes to angiogenesis and the development of deeply invasive cutaneous melanoma.
van Kempen LC, Rijntjes J, Mamor-Cornelissen I, Vincent-Naulleau S, Gerritsen MJ, Ruiter DJ, van Dijk MC, Geffrotin C, van Muijen GN.
Int J Cancer. 2008 Mar 1;122(5):1019-29.
PMID 17957794
 
Human skin keloid fibroblasts display bioenergetics of cancer cells.
Vincent AS, Phan TT, Mukhopadhyay A, Lim HY, Halliwell B, Wong KP.
J Invest Dermatol. 2008 Mar;128(3):702-9. Epub 2007 Oct 18.
PMID 17943178
 
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Contributor(s)

Written04-2008Elizabeth M Perruccio, David D Roberts
Biochemical Pathology Section, Laboratory of Pathology, CCR, NCI, Building 10, Room 2A27, 10 Center Drive MSC1500, Bethesda, MD 20892, USA

Citation

This paper should be referenced as such :
Perruccio EM, Roberts DD . COL1A2 (collagen, type I, alpha 2). Atlas Genet Cytogenet Oncol Haematol. April 2008 .
URL : http://AtlasGeneticsOncology.org/Genes/COL1A2ID411ch7q22.html

The various updated versions of this paper are referenced and archived by INIST as such :
http://documents.irevues.inist.fr/bitstream/2042/44402/1/04-2008-COL1A2ID411ch7q22.pdf   [ Bibliographic record ]

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