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

COL2A1 Gene

protein-coding   GIFtS: 66
GCID: GC12M048266

collagen, type II, alpha 1

(Previous names: collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal...)
(Previous symbol: SEDC)
 Explore 99 diseases affiliated with
COL2A1 via
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Biological research products
for COL2A1    

Aliases
for COL2A1 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type II, Alpha 11 2     COL11A32
SEDC1 2     Cartilage Collagen2
Alpha-1 Type II Collagen2 3     Chondrocalcin1
Collagen, Type II, Alpha 1 (Primary Osteoarthritis, Spondyloepiphyseal
Dysplasia, Congenital)1
     Collagen Alpha-1(II) Chain2
ANFH2     Collagen II, Alpha-1 Polypeptide2
AOM2     

External Ids:    HGNC: 22001   Entrez Gene: 12802   Ensembl: ENSG000001392197   OMIM: 1201405   UniProtKB: P024583   

Export aliases for COL2A1 gene to outside databases

Previous GC identifers: GC12M048379 GC12M048083 GC12M046653 GC12M045398


Summaries
for COL2A1 gene

(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 COL2A1:
This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor
of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial
osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and
spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding
protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two
transcripts identified for this gene. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458
Function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development
of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces




Genomic Views
for COL2A1 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COL2A1 gene promoter:
         HFH-3   SRF   TBP   STAT1   SRF (504 AA)   Lmo2   PPAR-alpha   FOXI1   Pax-3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: COL2A1 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL2A1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL2A1


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

Entrez Gene cytogenetic band: 12q13.11   Ensembl cytogenetic band:  12q13.11   HGNC cytogenetic band: 12q12-q13.2

COL2A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL2A1 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M048266:  view genomic region     (about GC identifiers)

Start:
 48,366,748 bp from pter      End:
 48,398,285 bp from pter
Size:
 31,538 bases      Orientation:
 minus strand

Proteins
for COL2A1 gene

(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: CO2A1_HUMAN, P02458 (See protein sequence)
Recommended Name: Collagen alpha-1(II) chain precursor  
Size: 1487 amino acids; 141785 Da
Subunit: Homotrimers of alpha 1(II) chains
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Sequence caution: Sequence=AAH07252.1; Type=Frameshift; Positions=1198;
3 PDB 3D structures from and Proteopedia for COL2A1:
1U5M (3D)        2FSE (3D)        2SEB (3D)    
Secondary accessions: A6NGA0 Q12985 Q14009 Q14044 Q14045 Q14046 Q14047 Q14056 Q14058 Q16672 Q1JQ82
Q2V4X7 Q6LBY1 Q6LBY2 Q6LBY3 Q96IT5 Q99227 Q9UE38 Q9UE39 Q9UE40 Q9UE41 Q9UE42 Q9UE43
Alternative splicing: 3 isoforms:  P02458-2   P02458-1   P02458-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL2A1: NX_P02458

Post-translational modifications:

  • Probably 3-hydroxylated on prolines by LEPREL1 (By similarity). Proline residues at the third position of the
    • tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second
    position of the tripeptide repeating unit (G-P-X) are hydroxylated in some of the chains1
  • The N-telopeptide is covalently linked to the helical COL2 region of alpha 1(IX), alpha 2(IX) and alpha 3(IX) chain.
    • The C-telopeptide is covalently linked to an another site in the helical region of alpha 3(IX) COL21
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P02458

    • COL2A1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_001835.3  NP_149162.2  

    ENSEMBL proteins: 
     ENSP00000369889   ENSP00000338213  
    Reactome Protein details: P02458
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant COL2A1 Protein
    R&D Systems Recombinant & Natural Proteins for COL2A1 (Collagen II)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for COL2A1 
    GenScript Custom Purified and Recombinant Proteins Services for COL2A1
    Novus Biologicals COL2A1 Proteins
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005585collagen type II IDA8660302
    GO:0005604basement membrane IEA--
    GO:0005615extracellular space IEA--


    COL2A1 for ontologies           About GeneDecksing



    COL2A1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of COL2A1
    R&D Systems Antibodies for COL2A1 (Collagen II)
    Browse OriGene Antibodies
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    Novus Biologicals COL2A1 Antibodies
    Search for Antibodies for COL2A1 at Abcam  
    Browse Antibodies at Uscn
    ThermoFisher Antibody for COL2A1

    Assay Products for COL2A1: 
    EMD Millipore Kits and Assays for the Analysis of COL2A1
    OriGene Custom Immunoassay Development
    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COL2A1
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs and CLIAs at Uscn

    Protein Domains /
    Families
    for COL2A1 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL2A1 for domains           About GeneDecksing

    3 InterPro domains/families:
     IPR000885 Fib_collagen_C
     IPR001007 VWF_C
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P02458

    ProtoNet protein and cluster: P02458

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


    UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458
    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
    Similarity: Contains 1 VWFC domain


    Function
    for COL2A1 gene

    (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: CO2A1_HUMAN, P02458
    Function: Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development
    of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces

         Genatlas biochemistry entry for COL2A1:
    collagen type II,alpha 1,fibril forming,chondrocalcin included,expressed in hyaline cartilage,in the ocular vitreous,
    in the nucleus pulposus of the intervertebral disc and in the inner ear

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL2A1
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate COL2A1 (see all 17):
    hsa-miR-148b hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-346 hsa-miR-889 hsa-miR-3121-3p hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL2A1 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL2A1 (see all 7)
    OriGene shRNA RFP: COL2A1
    OriGene siRNA: COL2A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL2A1

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for COL2A1

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL2A1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL2A1 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): COL2A1 (NM_033150)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL2A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL2A1 

    Cell Line
    Products:             		GenScript Custom overexpressing Cell Line Services for COL2A1
    LifeMap BioReagents: cell lines associated with COL2A1: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package E15,
    Chondrogenic Package MEL2, Chondrogenic Package SM30, PureStem 7PEND24, NCr-fac & Meso-prx Progenitor

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL2A1

    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030020extracellular matrix structural constituent conferring tensile strength IC8660302
    GO:0042802identical protein binding NAS2587267
    GO:0046872metal ion binding IEA--
    GO:0048407platelet-derived growth factor binding IDA8900172


    COL2A1 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for COL2A1: Col2a1tm1Prc Col2a1tm1.1Ksec
         15/18 MGI mutant phenotypes (inferred from 9 alleles) (MGI details for Col2a1) (see all 18):
     adipose tissue  behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary 
     embryogenesis  growth/size  hearing/vestibular/ear  immune system  limbs/digits/tail 
     liver/biliary system  mortality/aging  nervous system  normal  renal/urinary system 

    COL2A1 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COL2A1 gene

    (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 - 5/24 super-pathways (see all 24) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin 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
    2Collagen 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
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4Cell 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
    		Cytoskeleton remodeling_Integrin outside-in signaling0.37
    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

    5/6 EMD Millipore Pathways for COL2A1 (see all 6)
        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

    1 R&D Systems Pathway for COL2A1
        Articular Cartilage Extracellular Matrix

    5/15 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for COL2A1 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    4 GeneGo (Thomson Reuters) Pathways for COL2A1
        Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion Integrin inside-out signaling
    Cell adhesion ECM remodeling

    3 BioSystems Pathways for COL2A1 
        Focal Adhesion
    Neural Crest Differentiation
    Endochondral Ossification

    5/20        Reactome Pathways for COL2A1 (see all 20)
        Developmental Biology
    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.
    Gelatin degradation by MMP19


    4         Kegg Pathways  (Kegg details for COL2A1):
        Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL2A1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL2A1

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

    5/96 Interacting proteins for COL2A1 (P024582, 3 ENSP000003698894) via UniProtKB, MINT, STRING, and/or I2D (see all 96)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COCHO434052, 3, ENSP000002163614MINT-6796062 I2D: score=1 STRING: ENSP00000216361
    PKD1P981613, ENSP000002623044I2D: score=3 STRING: ENSP00000262304
    TGFB1P011373, ENSP000002219304I2D: score=3 STRING: ENSP00000221930
    COL6A1P121093, ENSP000003551804I2D: score=2 STRING: ENSP00000355180
    COL9A2Q140553, ENSP000003618344I2D: score=2 STRING: ENSP00000361834
    About this table

    Gene Ontology (GO): 5/29 biological process terms (GO ID links to tree view) (see all 29):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IMP1429602
    GO:0001502cartilage condensation IEA--
    GO:0001503ossification ----
    GO:0001894tissue homeostasis IEA--
    GO:0001958endochondral ossification IEA--


    COL2A1 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL2A1 gene

    (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

    COL2A1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for COL2A1

    1 DrugBank Compound for COL2A1    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    Collagenase-- 9001-12-1target--12890681 17652426 16507130 15299286 14613270

    10/33 Novoseek chemical compound relationships for COL2A1 gene (see all 33)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    procollagen 72.1 7 15593085 (2), 1637314 (2), 1860834 (1), 8244341 (1) (see all 5)
    calcium pyrophosphate 56.3 1 11333354 (1)
    alginate 55.3 2 11748585 (1), 11037878 (1)
    hydroxylysine 50 1 10947951 (1)
    glycosaminoglycan 49.8 5 17318897 (1), 15639641 (1), 18985688 (1), 16457813 (1)
    pentosidine 46.7 3 10947951 (2), 11691581 (1)
    n(epsilon)-(carboxymethyl)lysine 44.9 1 10947951 (1)
    pyridinoline 41.3 5 7633791 (1), 1887826 (1), 18369645 (1), 7951150 (1)
    hydroxyproline 34.7 1 1887826 (1)
    serine 22.8 7 11592371 (3), 16507127 (1), 19072565 (1), 9022054 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about COL2A1 / CO2A1 

    Transcripts
    for COL2A1 gene

    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for COL2A1 gene (2 alternative transcripts): 
    NM_001844.4  NM_033150.2  

    Unigene Cluster for COL2A1:

    Collagen, type II, alpha 1
    Hs.408182  [show with all ESTs]
    Unigene Representative Sequence: NM_001844
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000380518(uc001rqt.3 uc009zkw.3 uc001rqu.3 uc001rqv.3)
    ENST00000493991 ENST00000337299 ENST00000546974 ENST00000483376 ENST00000474996
    ENST00000466884 ENST00000490609 ENST00000465743

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL2A1
    8/17 QIAGEN miScript miRNA Assays for microRNAs that regulate COL2A1 (see all 17):
    hsa-miR-148b hsa-miR-29c hsa-miR-29a hsa-miR-767-5p hsa-miR-346 hsa-miR-889 hsa-miR-3121-3p hsa-miR-514b-3p
    SwitchGear 3'UTR luciferase reporter plasmid: COL2A1 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL2A1 (see all 7)
    OriGene shRNA RFP: COL2A1
    OriGene siRNA: COL2A1
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL2A1
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for COL2A1 (see all 6)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for COL2A1 (see all 3)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 2): COL2A1 (NM_033150)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL2A1
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL2A1 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL2A1
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL2A1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL2A1

    Additional cDNA sequence: 

    BC007252.1 BC116449.1 BT007205.1 X06268.1 X13783.1 X16468.1 X16711.1 

    21 DOTS entries:

    DT.95179525  DT.100782871  DT.95263999  DT.100038174  DT.100038169  DT.40132444  DT.102833021  DT.102833022 
    DT.102833024  DT.91785734  DT.92423549  DT.100038168  DT.100038175  DT.102833019  DT.121158231  DT.121630198 
    DT.423497  DT.95263995  DT.95263998  DT.100884016  DT.95171333 

    24/326 AceView cDNA sequences (see all 326):

    BQ182581 BQ182436 BQ181168 BQ183611 BQ183800 CA448680 CA448761 BQ182784 
    CR603203 BQ182244 C02580 BQ183254 BU626288 BQ182350 CA447976 BQ183634 
    CN479625 BQ181996 BQ182790 BQ182519 BQ182837 CA414989 BQ181391 BU616616 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for COL2A1    About this scheme

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

    ExUns: 25 ^ 26 ^ 27a · 27b ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^
    SP1:              -                                                                                                                                             
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                                                                                                                                                            
    SP5:                                                                                                                                                            

    ExUns: 50 ^ 51
    SP1:            
    SP2:            
    SP3:            
    SP4:            
    SP5:            


    ECgene alternative splicing isoforms for COL2A1

    Expression
    for COL2A1 gene

    (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

    COL2A1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACATAGGAG

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

    COL2A1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/47 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 47) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneSacral VertebraeChondrocytesBone, Cartilage
    BoneStylopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneThoracic RibChondrocytesBone, Cartilage
    BoneThoracic VertebraeChondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/35 LifeMap Cells (see all 35) 
    NameCategory
    Cartilage Constructs (Generation of endoch...)Bone, Cartilage
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Hypertrophic chondrocytes like cells (HyStem chondrogenic ...)Cartilage
    Osteoblast-like cells grown in monolayer (Osteogenic different...)
    Osteoblast-like cells grown in a 3D culture system (Osteogenic different...)
    Pelleted mesenchymal stem cells (Chondrogenic differe...)
    Hypertrophic chondrocyte-like cells (Chondrogenic differe...)Bone, Cartilage
    Mesoderm-like cells (Direct differentiati...)Mesoderm
    Chondrocyte-like cells (Direct differentiati...)Bone, Cartilage
    Embryoid body constructs (Generation of fibroc...)

    See COL2A1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL2A1

    SOURCE GeneReport for Unigene cluster: Hs.408182

    UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458
    Tissue specificity: Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte

        SABiosciences Expression via Pathway-Focused PCR Arrays including COL2A1: 
              Osteogenesis in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Terminal Differentiation Markers in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Stem Cells in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL2A1
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat COL2A1
    QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat COL2A1
    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL2A1
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL2A1

    Orthologs
    for COL2A1 gene

    (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 COL2A1 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 COL2A11 collagen, type II, alpha 1 79.82(n)
    92.58(a)    		   395069  NM_204426.1  NP_989757.1 
    lizard
    (Anolis carolinensis)    		 Reptilia COL2A16
    		 --
    		 91(a)
    		 1 ↔ 1
    		 GL343536.1(339101-431617)
    African clawed frog
    (Xenopus laevis)    		 Amphibia BC044962.12   -- 81.53(n)    BC044962.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii Dr.271722 Danio rerio cDNA clone IMAGE6788778, partial cds 77.5(n)    BC059180.1 
    mosquito
    (Anopheles gambiae)    		 Insecta AgaP_AGAP0116201 AGAP011620-PA 55.69(n)
    57.05(a)    		   1281010  XM_320884.4  XP_320884.4 


    ENSEMBL Gene Tree for COL2A1 (if available)
    TreeFam Gene Tree for COL2A1 (if available) 

    Paralogs
    for COL2A1 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL2A1 gene
    COL4A62  COL19A12  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  
    COL16A12  COL4A22  COL5A22  COL5A12  COL4A32  COL22A12  COL1A22  COL7A12  
    COL27A12  COL3A12  COL4A12  COL11A12  
    14 SIMAP similar genes for COL2A1 using alignment to 4 protein entries:     CO2A1_HUMAN (see all proteins):
    COL1A2    COL1A1    COL5A2    COL3A1    type II collagen alpha 1 chain    COL5A1
    FCN2    COL11A1    COL5A3    C1QTNF9    C1QTNF9B    COL24A1
    MARCO    COL11A2

    COL2A1 for paralogs           About GeneDecksing



    Genomic Variants
    for COL2A1 gene

    (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

    10/841 NCBI SNPs in COL2A1 are shown (see all 841)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 12 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1219128861,2
    		Cpathogenic45399713(-) CTGCAC/TGGTGA 4 T M mis10--------
    rs767298411,2
    		--45398484(+) CTCTCA/GGTTGA 2 -- ds50010--------
    rs412727811,2
    		C,F,--45398735(-) ACTGCC/TCCCAG 2 -- ut312Minor allele frequency- T:0.05MN WA 310
    rs412727771,2
    		C,F,--45398894(-) NNNNTC/TGGACT 2 -- ut313Minor allele frequency- T:0.05MN NA EA 432
    rs610484291,2
    		C,F,--45399267(+) CTGGCG/AAGCAT 2 -- int13Minor allele frequency- A:0.21WA CSA 122
    rs412727651,2
    		C,--45400011(-) AGCCCC/ATGGTC 2 -- int11Minor allele frequency- A:0.01MN 192
    rs732971381,2
    		C,--45400102(+) CAGGAG/ATGGAG 2 -- int12Minor allele frequency- A:0.03WA 120
    rs127214261,2
    		C,F,--45400136(-) ACGTGG/AAGGTG 2 -- int12Minor allele frequency- A:0.06MN NA 312
    rs569323691,2
    		C,F,--45400727(+) TGGATG/AGAGTC 2 -- int13Minor allele frequency- A:0.06NA CSA WA 122
    rs561965151,2
    		C,F,--45400865(+) GGGCAT/GCTCCT 2 -- int11Minor allele frequency- G:0.12NA 120

    HapMap Linkage Disequilibrium report for COL2A1 (48366748 - 48398285 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL2A1: --
    Human Gene Mutation Database (HGMD): COL2A1

    Locus Specific Mutation Databases (LSDB): COL2A1

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL2A1
    DNA2.0 Custom Variant and Variant Library Synthesis for COL2A1

    Disorders / Diseases
    for COL2A1 gene

    (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
    COL2A1 for disorders           About GeneDecksing

    OMIM gene information: 120140   
    OMIM disorders: 108300  156550  200610  183900  184250  132450  271700  604864  151210  215150  608805  150600  609508  
    UniProtKB/Swiss-Prot: CO2A1_HUMAN, P02458
  • Defects in COL2A1 are the cause of spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]. This
    • disorder is characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular
    systems
  • Defects in COL2A1 are the cause of spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]. A
    • bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs,
    and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot,
    and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as
    dappled in the metaphyses of the long bones
  • Defects in COL2A1 are the cause of achondrogenesis type 2 (ACG2) [MIM:200610]; also known as
    • achondrogenesis-hypochondrogenesis type II. ACG2 is a disease characterized by the absence of ossification in the
    vertebral column, sacrum and pubic bones
  • Defects in COL2A1 are the cause of Legg-Calve-Perthes disease (LCPD) [MIM:150600]; also known as Legg-Perthes
    • disease or Perthes disease. LCPD is characterized by loss of circulation to the femoral head, resulting in avascular
    necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression
    through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone
  • Defects in COL2A1 are the cause of Kniest dysplasia (KD) [MIM:156550]; also known as Kniest syndrome or
    • metatropic dwarfism type II. KD is a moderately severe chondrodysplasia phenotype that results from mutations in the
    COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate,
    myopia, retinal detachment, and hearing loss
  • Defects in COL2A1 are a cause of primary avascular necrosis of femoral head (ANFH) [MIM:608805]; also known as
    • ischemic necrosis of the femoral head or osteonecrosis of the femoral head. ANFH causes disability that often requires
    surgical intervention. Most cases are sporadic, but families in which there is an autosomal dominant inheritance of
    the disease have been identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH.
    Approximately 15,000 new cases of this common and disabling disorder are reported annually. The age at the onset is
    earlier than that for osteoarthritis. The diagnosis is typically made when patients are between the ages of 30 and 60
    years. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause
    considerable disability. Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in
    the United States involve patients with ANFH. As a result, this disease creates a substantial socioeconomic cost as
    well as a burden for patients and their families
  • Defects in COL2A1 are the cause of osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864].
    • Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of
    progressive degeneration of joint cartilage. Some forms of osteoarthritis are secondary to events such as trauma,
    infections, metabolic disorders, or congenital or heritable conditions that deform the epiphyses or related
    structures. In most patients, however, there is no readily identifiable cause of osteoarthritis. Inheritance in a
    Mendelian dominant manner has been demonstrated in some families with primary generalized osteoarthritis. Reports
    demonstrate coinheritance of primary generalized osteoarthritis with specific alleles of the gene COL2A1, the
    precursor of the major protein of cartilage
  • Defects in COL2A1 are the cause of platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T)
    • [MIM:151210]. Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias
    characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short
    ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the
    tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity
    with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and
    ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term
    survivors have been reported
  • Defects in COL2A1 are the cause of multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD)
    • [MIM:132450]. Multiple epiphyseal dysplasia is a generalized skeletal dysplasia associated with significant morbidity.
    Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an
    autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal
    thinning, crenated cataracts, conductive deafness
  • Defects in COL2A1 are the cause of spondyloperipheral dysplasia (SPD) [MIM:271700]. SPD patients manifest
    • short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and
    brachydactyly
  • Defects in COL2A1 are the cause of Stickler syndrome type 1 (STL1) [MIM:108300]; also known as vitreous type
    • 1, or membranous vitreous type. STL1 is an autosomal dominant form of Stickler syndrome, an inherited disorder that
    associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural
    deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal
    degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a
    cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight
    platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis.
    The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome
    expressivity is variable
  • Defects in COL2A1 are the cause of Stickler syndrome type 1 non-syndromic ocular (STL1O) [MIM:609508]. STL1O
    • is an autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in STL1 such as
    cataract, myopia, retinal detachment. STL1 systemic features of premature osteoarthritis, cleft palate, hearing
    impairment, and craniofacial abnormalities are either absent or very mild in STL1O patients
  • Defects in COL2A1 are a cause of rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508].
    • Rhegmatogenous retinal detachment most frequently results from a break or tear in the retina that allows fluid from
    the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and
    in most cases leads to visual impairment or blindness if untreated
  • Defects in COL2A1 are the cause of Czech dysplasia (CZECHD) [MIM:609162]. A skeletal dysplasia characterized
    • by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes

    20/99 diseases for COL2A1 (see all 99):    About MalaCards
    spondyloepimetaphyseal dysplasia, strudwick type    kniest dysplasia    achondrogenesis    spondyloepiphyseal dysplasia
    stickler sydrome, type i, nonsyndromic ocular    stickler syndrome    platyspondylic skeletal dysplasia, torrance type    osteoarthritis
    platyspondylic lethal skeletal dysplasia torrance type    weissenbacher-zweymuller syndrome    achondrogenesis-hypochondrogenesis    legg-calve-perthes disease
    sed, namaqualand type    chondrodysplasia    czech dysplasia metatarsal type    avascular necrosis of femoral head
    ehlers-danlos syndrome    smed strudwick type    epiphyseal dysplasia, multiple, with myopia and deafness    pierre robin sequence

    9 diseases from the University of Copenhagen DISEASES database for COL2A1:
    Stickler syndrome     Osteochondrodysplasia     Osteoarthritis     Vitreous syneresis
    Sponastrime dysplasia     Myopia     Retinal detachment     Cleft palate
    Brachydactyly

    10/52 Novoseek disease relationships for COL2A1 gene (see all 52)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    kniest dysplasia 94.9 19 10406661 (3), 9269170 (2), 9675039 (2), 8863156 (2) (see all 13)
    spondyloepiphyseal dysplasia 94.8 32 8893763 (2), 8325895 (2), 12968670 (2), 8244341 (2) (see all 25)
    achondrogenesis, type ii 89.9 8 10797431 (3), 7829510 (2), 17994563 (2), 15054848 (1)
    stickler syndrome, type i 88.6 4 16152640 (2), 18309337 (1), 16021188 (1)
    sed congenita 82.2 2 12968670 (1), 1978986 (1)
    osteoarthritis 80 51 19019890 (2), 8244341 (2), 11708863 (2), 20131279 (2) (see all 41)
    collagen fibril 78.8 28 1946380 (3), 19287128 (2), 12440941 (2), 12917109 (2) (see all 20)
    spondylometaphyseal dysplasia 77.8 3 7550321 (1), 19764033 (1), 16280719 (1)
    weissenbacher-zweymuller syndrome 77.7 1 9805126 (1)
    osmed 77.2 1 16189708 (1)

    GeneTests: COL2A1
    Stickler Syndrome

    Genetic Association Database (GAD): COL2A1
    Human Genome Epidemiology (HuGE) Navigator: COL2A1 (25 documents)

    Export disorders for COL2A1 gene to outside databases

    Publications
    for COL2A1 gene

    (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 COL2A1 gene, integrated from 9 sources (see all 495):
    (articles sorted by number of sources associating them with COL2A1)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Insulin-like growth factor I gene promoter polymorphism, collagen type II alpha1 (COL2A1) gene, and the prevalence of radiographic osteoarthritis: the Rotterdam Study. (PubMed id 15082485)1, 4, 9 Zhai G....van Duijn C.M. (2004)
    2. A novel mutation of COL2A1 resulting in dominantly inherited rhegmatogenous retinal detachment. (PubMed id 15671297)1, 2, 9 Richards A.J.... Snead M.P. (2005)
    3. Autosomal dominant rhegmatogenous retinal detachment associated with an Arg453Ter mutation in the COL2A1 gene. (PubMed id 12939326)1, 4, 9 Go S.L....Hoyng C.B. (2003)
    4. Czech dysplasia: report of a large family and further delineation of the phenotype. (PubMed id 18553548)1, 2, 9 Tzschach A....Graul-Neumann L.M. (2008)
    5. Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesis. (PubMed id 10797431)1, 2, 9 Koerkkoe J.... Prockop D.J. (2000)
    6. Variation in the vitreous phenotype of Stickler syndrome can be caused by different amino acid substitutions in the X position of the type II collagen Gly-X-Y triple helix. (PubMed id 11007540)1, 2, 9 Richards A.J.... Snead M.P. (2000)
    7. A single base mutation in the type II procollagen gene (COL2A1) that converts glycine alpha 1-247 to serine in a family with late-onset spondyloepiphyseal dysplasia. (PubMed id 8019561)1, 2, 9 Ritvaniemi P.... Prockop D.J. (1994)
    8. Missense and nonsense mutations in the alternatively-spliced exon 2 of COL2A1 cause the ocular variant of Stickler syndrome. (PubMed id 17721977)1, 2, 9 McAlinden A....Mannikko M. (2008)
    9. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and 'patchy' expression in the mosaic father. (PubMed id 17994563)1, 2, 9 Forzano F....Faravelli F. (2007)
    10. High efficiency of mutation detection in type 1 stickler syndrome using a two-stage approach: vitreoretinal assessment coupled with exon sequencing for screening COL2A1. (PubMed id 16752401)1, 2, 9 Richards A.J....Snead M.P. (2006)

    External Searches for COL2A1 gene

    (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)

    Genome Databases showing COL2A1 gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1280 HGNC: 2200 AceView: COL2A1 Ensembl:ENSG00000139219 euGenes: HUgn1280
    ECgene: COL2A1 Kegg: 1280 H-InvDB: COL2A1

    Other Databases showing COL2A1 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL2A1 gene

    (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 COL2A1 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL2A1

    Intellectual Property
    for COL2A1 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for COL2A1 gene:
    Search GeneIP for patents involving COL2A1

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    Products
    for COL2A1 gene

    (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),
    In Situ Hybridization Assays from
    Advanced Cell Diagnostics
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     EMD Millipore Kits and Assays for the Analysis of COL2A1
     EMD Millipore Purified and/or Recombinant COL2A1 Protein
     Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
     Browse Small Molecules at EMD Millipore
     EMD Millipore Mono- and Polyclonal Antibodies for the study of COL2A1
     Browse for Gene Knock-down Tools from EMD Millipore
     
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     Antibodies for COL2A1 (Collagen II)   Browse Cell Culture Products  
     Browse ELISAs   Browse Flow Cytometry Kits  
     Browse Primer Pairs   Browse Kinase Activity Assays/Reagents  
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     Browse OriGene Antibodies   OriGene shRNA RFP for COL2A1  
     OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for COL2A1   OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for COL2A1  
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     OriGene siRNA for COL2A1   OriGene 3'-UTR Clone for COL2A1  
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     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat COL2A1
     QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL2A1
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL2A1
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat COL2A1
     QIAGEN QuantiFast Probe-based Assays in human, mouse, rat COL2A1
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     GenScript Custom Purified and Recombinant Proteins Services for COL2A1 GenScript cDNA clones with any tag delivered in your preferred vector for COL2A1
     GenScript Custom Assay Services for COL2A1 GenScript Custom Superior Antibodies Services for COL2A1
     GenScript Custom overexpressing Cell Line Services for COL2A1 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in COL2A1 promoter
     Search Chromatin IP Primers for COL2A1
     RT2 qPCR Primer Assay in human, mouse, rat COL2A1
     GNC Network for COL2A1
     SABiosciences PCR Arrays including human, mouse, rat COL2A1
     Search Tocris compounds for COL2A1
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     COL2A1 antibodies
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     Search for Antibodies for COL2A1 at Abcam
     See all of Abcam's Antibodies, Kits and Proteins for COL2A1
     Custom Antibody / Protein Production Service
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     Advantages of Rabbit Monoclonal antibodies
     Abcam protocols and scientific support
     Browse ProSpec Recombinant Proteins




     Browse ELISAs, CLIAs, Proteins, and Antibodies at Uscn
     Cell Lines associated with COL2A1: Chondrogenic Package 4D20.8,
    Chondrogenic Package 7PEND24, Chondrogenic Package 7SMOO32, Chondrogenic Package E15,
    Chondrogenic Package MEL2, Chondrogenic Package SM30, PureStem 7PEND24, 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 COL2A1
     SwitchGear 3'UTR luciferase reporter plasmids for COL2A1
     SwitchGear Promoter luciferase reporter plasmids for COL2A1
     ThermoFisher Antibody for COL2A1
     Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL2A1
           
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