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

COL1A2 Gene

protein-coding   GIFtS: 71
GCID: GC07P094023

Collagen, Type I, Alpha 2

(Previous name: osteogenesis imperfecta type IV)
(Previous symbol: OI4)
  See 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)
About This Section

Aliases
Collagen, Type I, Alpha 21 2     Collagen I1
OI41 2     Collagen Of Skin1
Alpha 2(I)-Collagen1 2     Osteogenesis Imperfecta Type IV1
Type I Procollagen1 2     Tendon And Bone1
Alpha-2 Type I Collagen2 3     Collagen Alpha-2(I) Chain2
Alpha-2 Chain1     Collagen I, Alpha-2 Polypeptide2
Alpha-2 Collagen Type I1     Collagen Of Skin, Tendon And Bone, Alpha-2 Chain2
Alpha-2 Polypeptide1     

External Ids:    HGNC: 21981   Entrez Gene: 12782   Ensembl: ENSG000001646927   OMIM: 1201605   UniProtKB: P081233   

Export aliases for COL1A2 gene to outside databases

Previous GC identifers: GC07P092559 GC07P093622 GC07P093636 GC07P093668 GC07P093861 GC07P088631


(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 COL1A2 Gene:
This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one
alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone,
cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV,
Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and
atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than
mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2
chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have
been identified for this gene. (provided by R. Dalgleish, Feb 2008)

GeneCards Summary for COL1A2 Gene: 
COL1A2 (collagen, type I, alpha 2) is a protein-coding gene. Diseases associated with COL1A2 include osteogenesis imperfecta, and osteogenesis imperfecta type iii, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include protein binding, bridging and identical protein binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

Gene Wiki entry for COL1A2 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_000007.13  NC_018918.2  NT_007933.15  NT_079595.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL1A2 gene promoter:
         c-Fos   C/EBPbeta   Sp1   AP-1   ATF-2   c-Jun   CBF(2)   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): COL1A2 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL1A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL1A2


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

Entrez Gene cytogenetic band: 7q22.1   Ensembl cytogenetic band:  7q21.3   HGNC cytogenetic band: 7q21.3

COL1A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL1A2 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07P094023:  view genomic region     (about GC identifiers)

Start:
94,023,873 bp from pter      End:
94,060,544 bp from pter
Size:
36,672 bases      Orientation:
plus strand

1 alternative location:
Chr7+,CRA_TCAG 93,353,052-93,389,700     

(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: CO1A2_HUMAN, P08123 (See protein sequence)
Recommended Name: Collagen alpha-2(I) chain precursor  
Size: 1366 amino acids; 129314 Da
Subunit: Trimers of one alpha 2(I) and two alpha 1(I) chains
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Secondary accessions: P02464 Q13897 Q13997 Q13998 Q14038 Q14057 Q15177 Q15947 Q16480 Q16511
Q7Z5S6 Q9UEB6 Q9UEF9 Q9UM83 Q9UMI1 Q9UML5 Q9UMM6 Q9UPH0

Explore the universe of human proteins at neXtProt for COL1A2: NX_P08123

Explore proteomics data for COL1A2 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
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P08123

  • COL1A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL1A2 Protein Expression
    REFSEQ proteins: NP_000080.2  
    ENSEMBL proteins: 
     ENSP00000297268  
    Reactome Protein details: P08123
    Human Recombinant Protein Products for COL1A2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005584collagen type I TAS6267597
    GO:0005615extracellular space IDA18375391
    GO:0005788endoplasmic reticulum lumen TAS--

    COL1A2 for ontologies           About GeneDecksing



    COL1A2 Antibody Products: 
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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

    2 InterPro protein domains:
     IPR000885 Fib_collagen_C
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P08123

    ProtoNet protein and cluster: P08123

    3 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
    Domain: The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by
    controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen
    fibrils. It binds a calcium ion which is essential for its function (By similarity)
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 1 fibrillar collagen NC1 domain


    COL1A2 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: CO1A2_HUMAN, P08123
    Function: Type I collagen is a member of group I collagen (fibrillar forming collagen)

         Genatlas biochemistry entry for COL1A2:
    collagen type I,alpha 2,fibril forming,putative down-regulated c-Myc target gene,

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS8982144
    GO:0005515protein binding IPI18375391
    GO:0030674protein binding, bridging IMP18375391
    GO:0042802identical protein binding IDA17211858
    GO:0046332SMAD binding IEA--
         
    COL1A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COL1A2:
     Increased gamma-H2AX phosphory 

         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Col1a2):
     behavior/neurological  cardiovascular system  cellular  growth/size  integument 
     limbs/digits/tail  mortality/aging  muscle  normal  skeleton 

    COL1A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col1a2tm1Mcbr for COL1A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL1A2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for COL1A2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL1A2 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL1A2 

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL1A2:
    hsa-mir-29c (MIRT001928), hsa-let-7g (MIRT000472)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL1A2
    8/35 QIAGEN miScript miRNA Assays for microRNAs that regulate COL1A2 (see all 35):
    hsa-miR-642a hsa-miR-300 hsa-let-7d hsa-miR-29a hsa-miR-25 hsa-miR-342-3p hsa-let-7g hsa-let-7a
    SwitchGear 3'UTR luciferase reporter plasmidCOL1A2 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
    Products:
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    Sirion Biotech Customized adenovirus for overexpression of COL1A2

    Clone
    Products:
         
    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for COL1A2 (see all 5)
    OriGene ORF clones in mouse, rat for COL1A2
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: COL1A2 (NM_000089)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL1A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL1A2
    Sirion Biotech Customized lentivirus for stable overexpression of COL1A2 
                         Customized lentivirus expression plasmids for stable overexpression of COL1A2 

    Cell Line
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    LifeMap BioReagents: cell lines associated with COL1A2: PureStem 7SMOO32, NCr-fac & Meso Progenitor,
    PureStem E15, Meso-prx/latp Progenitor, PureStem MEL2, NCr-fac Progenitor,
    PureStem SK11, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2


    (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 COL1A2 About   (see all 34)                                                                                              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
    Syndecan interactions0.44
    Integrin cell surface interactions0.32
    ECM-receptor interaction0.42
    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

    5/8 EMD Millipore Pathways for COL1A2 (see all 8)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin inside-out signaling
    Cell adhesion ECM remodeling

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL1A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5/7 GeneGo (Thomson Reuters) Pathways for COL1A2 (see all 7)
        Development Hedgehog and PTH signaling pathways in bone and cartilage development
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Development Endothelin-1/EDNRA transactivation of EGFR
    Cell adhesion Integrin-mediated cell adhesion and migration

    5/9 BioSystems Pathways for COL1A2 (see all 9)
        Focal Adhesion
    VEGFR3 signaling in lymphatic endothelium
    C-MYB transcription factor network
    IL4-mediated signaling events
    Endothelins

    5/20        Reactome Pathways for COL1A2 (see all 20)
        Assembly of collagen fibrils and other multimeric structures
    ECM proteoglycans
    Anchoring fibril formation
    Extracellular matrix organization
    Collagen biosynthesis and modifying enzymes

    1 PharmGKB Pathway for COL1A2
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5         Kegg Pathways  (Kegg details for COL1A2):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL1A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL1A2

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

    5/109 Interacting proteins for COL1A2 (P081232, 3 ENSP000002972684) via UniProtKB, MINT, STRING, and/or I2D (see all 109)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ITGA2P173012, 3, ENSP000002965854MINT-4792053 I2D: score=2 STRING: ENSP00000296585
    APPP050673, ENSP000002849814I2D: score=2 STRING: ENSP00000284981
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    MMP9P147803, ENSP000003614054I2D: score=2 STRING: ENSP00000361405
    SPARCP094863, ENSP000002310614I2D: score=2 STRING: ENSP00000231061
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP17955022
    GO:0001568blood vessel development IMP17211858
    GO:0007179transforming growth factor beta receptor signaling pathway IDA17217948
    GO:0007266Rho protein signal transduction IDA17217948
    GO:0007596blood coagulation TAS--

    COL1A2 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

    COL1A2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for COL1A2 (CO1A2)

    1 HMDB Compound for COL1A2    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    1 DrugBank Compound for COL1A2    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Collagenase-- 9001-12-1target--12101112

    10/25 Novoseek inferred chemical compound relationships for COL1A2 gene (see all 25)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mspi 68.1 17 15777651 (3), 15599596 (2), 7835877 (2), 1675622 (1) (see all 10)
    procollagen 65.3 3 7916744 (1), 18266309 (1), 10073586 (1)
    rsai 62.8 7 7835877 (2), 16114820 (1), 18284430 (1), 11208313 (1) (see all 5)
    nppa 58.7 2 14993121 (1), 15582321 (1)
    ecori 39.4 7 7835877 (2), 1675622 (1), 16114820 (1), 11208313 (1) (see all 5)
    cyanogen bromide 38.4 1 9721184 (1)
    mithramycin 36.3 1 11114293 (1)
    nppb 25.8 2 14993121 (1), 15582321 (1)
    cysteine 23.9 8 1990009 (2), 16786509 (1), 2066103 (1), 11359465 (1) (see all 7)
    ly294002 21.7 6 14610066 (2), 15153536 (2), 19726546 (1)

    Search CenterWatch for drugs/clinical trials and news about COL1A2 / CO1A2

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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    About This Section

    REFSEQ mRNAs for COL1A2 gene: 
    NM_000089.3  

    Unigene Cluster for COL1A2:

    Collagen, type I, alpha 2
    Hs.489142  [show with all ESTs]
    Unigene Representative Sequence: J03464
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000297268(uc003ung.1 uc011kib.1 uc022ahm.1 uc010lfh.1 uc010lfi.1)
    ENST00000488298 ENST00000473573 ENST00000497316 ENST00000461525 ENST00000467931
    ENST00000481570 ENST00000469732 ENST00000478215 ENST00000488121 ENST00000492110
    ENST00000464916
    miRNA
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    Clone
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL1A2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL1A2
    Sirion Biotech Customized lentivirus for stable overexpression of COL1A2 
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL1A2
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL1A2

    Additional mRNA sequence: 

    AK223175.1 AK226074.1 AK297786.1 AK300194.1 AK309504.1 BC042586.1 BC054498.1 J00114.1 
    J03464.1 L47668.1 S96821.1 V00503.1 X55525.1 Y00724.1 Z74616.1 

    24/65 DOTS entries (see all 65):

    DT.95171357  DT.100884035  DT.100884020  DT.95171333  DT.100884018  DT.95171203  DT.97866912  DT.100884016 
    DT.100884027  DT.100032421  DT.100884013  DT.100045973  DT.95171339  DT.121064706  DT.100662598  DT.121064821 
    DT.95171156  DT.121064776  DT.121064787  DT.121064715  DT.121642682  DT.453710  DT.121064721  DT.121064802 

    24/892 AceView cDNA sequences (see all 892):

    AW337122 AI991743 BM721970 H89269 AA346530 CA412872 BQ952311 BG938635 
    AW603342 BQ899323 CB215874 BQ005626 AI754375 CO249541 AI755165 BM679332 
    BQ010070 BM678518 NM_000089 AL045656 BM722019 AI755044 C02602 BQ004725 

    GeneLoc Exon Structure

    5/13 Alternative Splicing Database (ASD) splice patterns (SP) for COL1A2 (see all 13)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                      -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 27 ^ 28 ^ 29a · 29b ^ 30 ^ 31a · 31b ^ 32 ^ 33 ^ 34a · 34b ^ 35 ^ 36a · 36b ^ 37a · 37b ^ 38a · 38b ^ 39 ^ 40a · 40b ^ 41a · 41b · 41c ^ 42 ^ 43a ·
    SP1:              -                 -                             -                 -     -           -                 -                                       
    SP2:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP3:              -                 -                             -                                                                                             
    SP4:                                -                                                                                                                           
    SP5:  -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   

    ExUns: 43b ^ 44a · 44b ^ 45a · 45b · 45c ^ 46a · 46b · 46c · 46d ^ 47a · 47b ^ 48a · 48b · 48c ^ 49 ^ 50
    SP1:  -     -                       -     -                                                               
    SP2:  -     -     -     -           -     -                                                               
    SP3:                                                                                                      
    SP4:                                                                                                      
    SP5:  -     -     -     -     -     -     -     -                                                         


    ECgene alternative splicing isoforms for COL1A2

    (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

    COL1A2 expression in normal human tissues (normalized intensities)      COL1A2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGAGGAGA
    COL1A2 Expression
    About this image


    COL1A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 18 entries
             Endochondral Osteoblasts Rostral Endochondral Facial Bones
             Mandibular Fossa
             Notch-transfected mesenchymal stromal cells (SB623)
             BONE MARROW   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 18 entries
             Intervertebral Disc Annulus Fibrosus Cells Lumbar Intervertebral Disc
             Embryoid body constructs ( Generation of fibrocartilage-like constructs )
     
     Limb (Muscoskeletal System)    fully expand to see all 6 entries
             Central Intermediate Lamina Cells Zeugopod Synovial Joint
     
     Epithelium
             vagina ; squamous epithelial cells   
     
     Uterus (Reproductive System)    fully expand to see all 5 entries
             uterus, pre-menopause ; glandular cells   
             Uterus Corpus   

    See COL1A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL1A2

    SOURCE GeneReport for Unigene cluster: Hs.489142

    UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
    Tissue specificity: Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with
    calcium hydroxyapatite

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL1A2 (see all 6): 
              Osteogenesis in human mouse rat
              Fibrosis in human mouse rat
              Cell Surface Markers in human mouse rat
              TGFB/BMP Signaling Pathway in human mouse rat
              Wound Healing in human mouse rat

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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2

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

    This gene was present in the common ancestor of chordates.

    Orthologs for COL1A2 gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col1a21 , 5 collagen, type I, alpha 21, 5 87.65(n)1
    90.04(a)1
      6 (1.81 cM)5
    128431  NM_007743.21  NP_031769.21 
     45048145 
    chicken
    (Gallus gallus)
    Aves COL1A21 collagen, type I, alpha 2 80.28(n)
    83.81(a)
      396243  NM_001079714.2  NP_001073182.2 
    lizard
    (Anolis carolinensis)
    Reptilia COL1A26
    Uncharacterized protein
    81(a)
    1 ↔ 1
    6(22172811-22230473)
    African clawed frog
    (Xenopus laevis)
    Amphibia col1a2-prov2 procollagen, type I, alpha 2 79.06(n)    BC049287.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col1a22 collagen, type I, alpha 2 77.2(n)   336471  AJ318213.1 


    ENSEMBL Gene Tree for COL1A2 (if available)
    TreeFam Gene Tree for COL1A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL1A2 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A22  COL5A12  COL4A32  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    9 SIMAP similar genes for COL1A2 using alignment to 7 protein entries:     CO1A2_HUMAN (see all proteins):
    COL2A1    COL1A1    COL5A2    FCN2    COL3A1    C1QTNF9
    MARCO    COL11A1    COL5A3

    COL1A2 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

    10/1455 SNPs in COL1A2 are shown (see all 1455)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0018784
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0018782 G C mis40--------
    VAR_0018754
    Osteogenesis imperfecta 4 (OI4)4--see VAR_0018752 G V mis40--------
    VAR_0633614
    Osteogenesis imperfecta 3 (OI3)4--see VAR_0633612 G D mis40--------
    VAR_0633484
    Osteogenesis imperfecta 4 (OI4)4--see VAR_0633482 G V mis40--------
    VAR_0018724
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0018722 G D mis40--------
    VAR_0633474
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0633472 G D mis40--------
    VAR_0018614
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0018612 G V mis40--------
    VAR_0018834
    Osteogenesis imperfecta 4 (OI4)4--see VAR_0018832 G V mis40--------
    VAR_0019004
    Osteogenesis imperfecta 2 (OI2)4--see VAR_0019002 G C mis40--------
    VAR_0633524
    Osteogenesis imperfecta 3 (OI3)4--see VAR_0633522 G S mis40--------

    HapMap Linkage Disequilibrium report for COL1A2 (94023873 - 94060544 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for COL1A2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2734832CNV Deletion23290073
    esv2734833CNV Deletion23290073
    nsv464642CNV Loss19166990


    Human Gene Mutation Database (HGMD): COL1A2

    Locus Specific Mutation Databases (LSDB): COL1A2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL1A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL1A2

    (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: 120160   
    OMIM disorders: 130060  166220  259420  166210  166710  225320  
    UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
  • Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by
    hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral
    congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature,
    and no dentinogenesis imperfecta. Note=The disease is caused by mutations affecting the gene represented in this
    entry
  • Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal
    fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory
    insufficiency. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective
    tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint
    hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation,
    patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. Note=The
    disease is caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short
    stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a
    connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after
    minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and
    perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis
    imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate
    scoliosis, grayish or white sclera and dentinogenesis imperfecta. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors
    resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with
    PLAG1

  • 20/67 diseases for COL1A2 (see all 67):    About MalaCards
    osteogenesis imperfecta    osteogenesis imperfecta type iii    otosclerosis    ehlers-danlos syndrome type viib
    lipoblastoma    otosclerosis, familial    osteogenesis imperfecta, type ii    osteogenesis imperfecta type 4
    ehlers-danlos syndrome, cardiac valvular form    osteogenesis imperfecta type i    high bone mass osteogenesis imperfecta    ehlers-danlos syndrome arthrochalasia type
    osteogenesis imperfecta type 2a    ehlers-danlos syndrome, classic type    ehlers-danlos syndrome    dental fluorosis
    marfan syndrome    scoliosis    idiopathic juvenile osteoporosis    intracranial aneurysm

    6 diseases from the University of Copenhagen DISEASES database for COL1A2:
    Osteogenesis imperfecta     Ehlers-Danlos syndrome     Dentinogenesis imperfecta     Osteoporosis
    Systemic scleroderma     Idiopathic juvenile osteoporosis

    COL1A2 for disorders           About GeneDecksing

    10/28 Novoseek inferred disease relationships for COL1A2 gene (see all 28)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteogenesis imperfecta 94.5 68 1967900 (2), 1990009 (2), 15241796 (2), 10982177 (2) (see all 57)
    oi, type i 90.5 6 1967900 (1), 8456806 (1), 8096115 (1), 9443882 (1) (see all 6)
    oi, type iv 90 8 1967900 (1), 11836364 (1), 8096115 (1), 18375391 (1) (see all 8)
    osteogenesis imperfecta, type ii 88.7 5 17431984 (2), 18996919 (1), 17508636 (1)
    oi, type iii 88.5 6 8100856 (2), 19208385 (1), 9240878 (1), 11359465 (1)
    ehlers-danlos syndrome, type i 78 1 1684560 (1)
    ehlers-danlos syndrome 77.2 15 1990839 (2), 15077201 (2), 10982177 (2), 8071956 (2) (see all 11)
    osteopenia 53.6 1 2052622 (1)
    sclerosis systemic 53.3 1 10872800 (1)
    otosclerosis 52.7 3 17568407 (1), 16168495 (1), 15211650 (1)

    GeneTests: COL1A2
    GeneReviews: COL1A2
    Genetic Association Database (GAD): COL1A2
    Human Genome Epidemiology (HuGE) Navigator: COL1A2 (39 documents)

    Export disorders for COL1A2 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 COL1A2 gene, integrated from 9 sources (see all 476):
    (articles sorted by number of sources associating them with COL1A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interaction of collagen-related genes and susceptibility to betel quid-induced oral submucous fibrosis. (PubMed id 12101112)1, 4, 7 Chiu C.J....Chen C.J. (2002)
    2. Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. (PubMed id 2897363)1, 2, 3 Wenstrup R.J.... Byers P.H. (1988)
    3. Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta. (PubMed id 16705691)1, 2, 9 Lee K.S....Koo S.K. (2006)
    4. Collagen type I alpha2 (COL1A2) is the susceptible gene for intracranial aneurysms. (PubMed id 14739420)1, 4, 9 Yoneyama T....Inoue I. (2004)
    5. Polymorphism rs42524 of COL1A2 and sporadic intracranial aneurysms in the Chinese population. (PubMed id 19035720)1, 4, 9 Zhu Y....Pang Q. (2008)
    6. Lack of correlation between the type of COL1A1 or COL1A2 mutation and hearing loss in osteogenesis imperfecta patients. (PubMed id 15241796)1, 4, 9 Hartikka H....Ala-Kokko L. (2004)
    7. The role of collagen type I alpha2 polymorphisms: int racranial aneurysms in Koreans. (PubMed id 19559927)1, 4, 9 Joo S.P....Kim S.H. (2009)
    8. Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships. (PubMed id 18996919)1, 2, 9 Bodian D.L....Klein T.E. (2009)
    9. Polymorphisms of the COL1A2, CYP1A1 and HS1,2 Ig enhancer genes in the Tuaregs from Libya. (PubMed id 17620151)1, 4, 9 Martinez-Labarga C....Rickards O. (2007)
    10. Proposed association between the COL1A1 and COL1A2 genes and otosclerosis is not supported by a case-control study in Spain. (PubMed id 15211650)1, 4, 9 Rodriguez L....Zapata C. (2004)

    (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: 1278 HGNC: 2198 AceView: COL1A2 Ensembl:ENSG00000164692 euGenes: HUgn1278
    ECgene: COL1A2 Kegg: 1278 H-InvDB: COL1A2

    (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 COL1A2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL1A2 Genetics and Cytogenetics in Oncology and Haematology
    Osteogenesis imperfecta variant databasehttp://oi.gene.le.ac.uk/home.php?select_db=COL1A2
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL1A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL1A2 gene:
    Search GeneIP for patents involving COL1A2

    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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     Cell Lines associated with COL1A2: PureStem 7SMOO32, NCr-fac & Meso Progenitor,
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     inGenious Targeting Laboratory - Custom generated mouse model solutions for COL1A2
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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    Category
    (GIFtS: 73)
    transforming growth factor, beta 1
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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