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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)
 Explore 65 diseases affiliated with
COL1A2 via our new
 Human Malady Compendium 
Biological research products
for COL1A2
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Collagen, Type I, Alpha 21 2     Collagen Alpha-2(I) Chain2
OI41 2     Collagen I, Alpha-2 Polypeptide2
Alpha-2 Type I Collagen2 3     Collagen Of Skin, Tendon And Bone, Alpha-2 Chain2
Osteogenesis Imperfecta Type IV1     Type I Procollagen2
Alpha 2(I)-Collagen2     

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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000007.13  NC_018918.1  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 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P08123

  • COL1A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000080.2  
    ENSEMBL proteins: 
     ENSP00000297268  
    Reactome Protein details: P08123
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    Browse Proteins at Uscn

    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    COL1A2 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR000885 Fib_collagen_C
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P08123

    ProtoNet protein and cluster: P08123

    3 Blocks protein families:
    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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: 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,

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

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    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2

    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


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

    Animal Models:
         Mouse knock-out Col1a2tm1Mcbr for COL1A2
         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


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/32 super-pathways (see all 32About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    Cytoskeleton remodeling Integrin outside-in signaling0.37
    Cell adhesion Integrin-mediated cell adhesion and migration1.00
    Cell adhesion_Endothelial cell contacts by non-junctional mechanisms0.21
    Cytoskeleton remodeling_Integrin outside-in signaling0.37
    Cell adhesion Endothelial cell contacts by non-junctional mechanisms0.21
    2Integrin Pathway
    Integrin Pathway1.00
    UPA-UPAR Pathway0.51
    FAK1 Signaling0.67
    Transendothelial Migration of Leukocytes0.38
    GnRH Signaling0.56
    Inhibition of Angiogenesis by TSP10.37
    3Collagen formation
    Collagen formation1.00
    Extracellular matrix organization0.54
    Collagen biosynthesis and modifying enzymes0.74
    Secretion of collagens0.49
    Assembly of collagen fibrils and other multimeric structures0.65
    4Rho Family GTPases
    Rho Family GTPases1.00
    MAPK Signaling0.51
    ERK Signaling0.61
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    5Formation of collagen fibres
    Formation of collagen fibrils1.00
    Type XII and XIV collagens associate with type I and type II fibrils.0.45
    Formation of collagen fibres1.00

    Pathway sources
    See GeneCards unified pathways
    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
    IL4-mediated signaling events
    Validated transcriptional targets of AP1 family members Fra1 and Fra2
    VEGFR3 signaling in lymphatic endothelium
    C-MYB transcription factor network

    5/22        Reactome Pathways for COL1A2 (see all 22)
        Formation of collagen fibrils
    Assembly of collagen fibrils and other multimeric structures
    Type XII and XIV collagens associate with type I and type II fibrils.
    GPVI stimulates PI3K beta, gamma
    Gelatin degradation by MMP19

    1 PharmGKB Pathway for COL1A2
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    4         Kegg Pathways  (Kegg details for COL1A2):
        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)

    5/108 Interacting proteins for COL1A2 (P081232, 3 ENSP000002972684) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    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): 5/15 biological process terms (GO ID links to tree view) (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP18375391
    GO:0001568blood vessel development IMP17211858
    GO:0007179transforming growth factor beta receptor signaling pathway IDA17217948
    GO:0007266Rho protein signal transduction IDA17217948
    GO:0007411axon guidance TAS--


    COL1A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    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 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 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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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

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    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
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    Inhib. RNA
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    Clone
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    Additional cDNA 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 

    24/73 DOTS entries (see all 73):

    DT.95171357  DT.100884035  DT.100884020  DT.95171333  DT.100884018  DT.95171203  DT.100884016  DT.97866912 
    DT.100884013  DT.100884027  DT.100032421  DT.100045973  DT.95171339  DT.121064706  DT.100662598  DT.121064715 
    DT.75178264  DT.121064825  DT.121064821  DT.95171156  DT.121064776  DT.121064787  DT.453710  DT.121642682 

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

    AI383642 CD515508 BQ004440 CB215847 BM679967 BM679202 R71565 AA375995 
    AI755044 CN484471 BM722065 CB045026 AA343289 AI752770 BX508373 BQ183632 
    AA375677 CN484779 CB269181 BG057935 CA427114 BU580539 AI198930 BM722524 

    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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATGAGGAGA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    COL1A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/32 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 32
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneCaudal Endochondral BonesEndochondral OsteoblastsBone
    BoneCaudal Endochondral BonesEndochondral PreosteoblastsBone
    BoneEndochondral Facial BonesEndochondral OsteoblastsBone
    BoneEndochondral Facial BonesEndochondral PreosteoblastsBone
    BoneFacial SuturesFacial Fusing Suture CellsBone
    BoneMembranous Facial BonesIntramembranous OsteoblastsBone
    BoneMembranous Facial BonesIntramembranous PreosteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral OsteoblastsBone
    BoneRostral Endochondral Facial BonesEndochondral PreosteoblastsBone
    BoneRostral Skull Membranous BonesIntramembranous OsteoblastsBone
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/18 LifeMap Cells (see all 18
    NameCategory
    mK3 (Cell line)Kidney
    mK4 (Cell line)Kidney
    PureStem™ mesenchymal Progenitor SK11 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 7SMOO32 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    PureStem™ mesenchymal progenitor 4D20.8 (Embryonic Progenitor Cell)Lateral Plate Mesoderm, Neural Crest
    PureStem™ mesenchymal progenitor E15 (Embryonic Progenitor Cell)Adipose, Bone, Cartilage
    Pelleted mesenchymal stem cells (Chondrogenic differe...)
    Single-cell constructs (Generation of fibroc...)Cartilage
    TGF?3- and IGF1-induced embryoid bodies (Generation of fibroc...)Cartilage
    Embryoid body constructs (Generation of fibroc...)Cartilage

    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

    Primer
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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 animals.

    Orthologs for COL1A2 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    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
    --
    81(a)
    1 ↔ 1
    6(22172811-22229242)
    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 
    honey bee
    (Apis mellifera)
    Insecta --
    --
    43(a)
    1 → many
    GroupUn.493(29585-38789)


    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  COL19A12  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  
    COL16A12  COL4A22  COL5A22  COL5A12  COL4A32  COL22A12  COL7A12  COL27A12  
    COL3A12  COL2A12  COL4A12  COL11A12  
    11 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    COL28A1    COL5A1

    COL1A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/1118 NCBI SNPs in COL1A2 are shown (see all 1118    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 7 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1939221721,2
    C,non-pathogenic93364918(+) TTTTT-/TCTTTC 1 -- int10--------
    rs668201191,2
    Cpathogenic93360063(+) CTCTAA/C/GAACTT 1 -- spa10--------
    rs726563871,2
    Cpathogenic93367870(+) CCGCCA/GGTCCC 2 S G mis10--------
    rs726564021,2
    Cpathogenic93368932(+) CTGCTG/TGGCCC 2 G W mis10--------
    rs1219129071,2
    Cpathogenic93373766(+) TGCTGG/TTCCAA 2 G V mis10--------
    rs726581521,2
    Cpathogenic93377011(+) AACCTA/GGTCTC 2 S G mis10--------
    rs726582001,2
    Cpathogenic93382808(+) CTCCTA/GGCACT 2 S G mis10--------
    rs726593431,2
    Cpathogenic93386828(+) CTGGCG/TAAACC 2 E * stg10--------
    rs1470581791,2
    Cprobable-non-pathogenic93368234(+) CTTCCC/TGGCGT 2 P syn11Minor allele frequency- T:0.00NA 4552
    rs345119991,2
    C,F,probable-non-pathogenic93368237(-) GCAACG/ACCGGG 2 /G syn13Minor allele frequency- A:0.01NA EU 5757

    HapMap Linkage Disequilibrium report for COL1A2 (94023873 - 94060544 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL1A2: --
    Human Gene Mutation Database (HGMD): COL1A2

    Locus Specific Mutation Databases (LSDB): COL1A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    COL1A2 for disorders           About GeneDecksing

    OMIM gene information: 120160   
    OMIM disorders: 130060  166220  259420  166210  166710  225320  
    UniProtKB/Swiss-Prot: CO1A2_HUMAN, P08123
  • Defects in COL1A2 are the cause of Ehlers-Danlos syndrome type 7B (EDS7B) [MIM:130060]. EDS is a connective
  • tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint
    hyperlaxity. EDS7B is marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial
    dislocations
  • Defects in COL1A2 are a cause of osteogenesis imperfecta type 1 (OI1) [MIM:166200]. A dominantly inherited
  • connective tissue disorder characterized by bone fragility and blue sclerae. Osteogenesis imperfecta type 1 is
    non-deforming with normal height or mild short stature, and no dentinogenesis imperfecta
  • Defects in COL1A2 are a cause of osteogenesis imperfecta type 2 (OI2) [MIM:166210]; also known as osteogenesis
  • imperfecta congenita (OIC) or lethal perinatal. A connective tissue disorder characterized by bone fragility, with
    many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to
    respiratory insufficiency
  • Defects in COL1A2 are the cause of 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
  • Defects in COL1A2 are a cause of osteogenesis imperfecta type 3 (OI3) [MIM:259420]. A connective tissue
  • disorder characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis,
    grayish sclera, and dentinogenesis imperfecta
  • Defects in COL1A2 are a cause of osteogenesis imperfecta type 4 (OI4) [MIM:166220]; also known as osteogenesis
  • imperfecta with normal sclerae. A connective tissue disorder characterized by moderately short stature, mild to
    moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta
  • 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

    20/65 diseases for COL1A2 (see all 65):    About MalaCards
    osteogenesis imperfecta    ehlers-danlos syndrome    ehlers-danlos syndrome type viib    osteogenesis imperfecta type i
    ehlers-danlos syndrome, cardiac valvular form    marfan syndrome    osteogenesis imperfecta, type ii    ehlers-danlos syndrome type viia
    osteogenesis imperfecta type iii    osteoporosis    osteogenesis imperfecta type 4    silver-russell syndrome
    mitral valve prolapse    osteoporosis, postmenopausal    connective tissue disease    dental fluorosis
    dentinogenesis imperfecta    short stature    intracranial aneurysm    abdominal aortic 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

    10/28 Novoseek 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
    COL1A1/2-Related Osteogenesis Imperfecta

    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 470):
    (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. 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)
    6. 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)
    7. 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)
    8. Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway. (PubMed id 15077201)1, 2, 9 Schwarze U.... Byers P.H. (2004)
    9. Tests of linkage and association of the COL1A2 gene with bone phenotypes' variation in Chinese nuclear families. (PubMed id 14555266)1, 4, 9 Deng F.Y....Deng H.W. (2003)
    10. Relation of PvuII site polymorphism in the COL1A2 gene to the risk of fractures in prepubertal Finnish girls. (PubMed id 12813128)1, 4, 9 Suuriniemi M....Cheng S. (2003)

    (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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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     Antibodies for COL1A2
     See all of Abcam's Antibodies, Kits and Proteins for COL1A2
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     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     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
     Gene Synthesis
     Protein Engineering
     Variant Library Synthesis
     Codon Optimization
     Protein Production and Purification
     Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL1A2
     SwitchGear 3'UTR luciferase reporter plasmids for COL1A2
     SwitchGear Promoter luciferase reporter plasmids for COL1A2
     ThermoFisher Antibodies for COL1A2
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL1A2
           
    GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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    Category
    VWF
    (GIFTS: 73)
    von Willebrand factor
    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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