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COL6A2 Gene

protein-coding   GIFtS: 66
GCID: GC21P047518

Collagen, Type VI, Alpha 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, 15RNAdb, and/or 11Nature:405,311-319 and CroW21)
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Aliases
Collagen, Type VI, Alpha 21 2
Human MRNA For Collagen VI Alpha-2 C-Terminal Globular Domain2 11
PP36102
Collagen Alpha-2(VI) Chain2
Collagen VI, Alpha-2 Polypeptide2

External Ids:    HGNC: 22121   Entrez Gene: 12922   Ensembl: ENSG000001421737   OMIM: 1202405   UniProtKB: P121103   

Export aliases for COL6A2 gene to outside databases

Previous GC identifers: GC21P044024 GC21P046374 GC21P046342 GC21P032899


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for COL6A2 Gene:
This gene encodes one of the three alpha chains of type VI collagen, a beaded filament collagen found in most
connective tissues. The product of this gene contains several domains similar to von Willebrand Factor type A
domains. These domains have been shown to bind extracellular matrix proteins, an interaction that explains the
importance of this collagen in organizing matrix components. Mutations in this gene are associated with Bethlem
myopathy and Ullrich scleroatonic muscular dystrophy. Three transcript variants have been identified for this
gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL6A2 Gene:
COL6A2 (collagen, type VI, alpha 2) is a protein-coding gene. Diseases associated with COL6A2 include myosclerosis, congenital, and autosomal recessive myosclerosis myopathy. GO annotations related to this gene include extracellular matrix structural constituent and protein binding, bridging. An important paralog of this gene is COL28A1.

UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110
Function: Collagen VI acts as a cell-binding protein

Gene Wiki entry for COL6A2 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics, Whole Chromsome Sequence According to Nature (Cited Here with Permission):405,311-319 and CroW21)
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RefSeq DNA sequence:
NC_000021.9  NC_018932.2  NT_011512.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL6A2 gene promoter:
         TBP   Elk-1   AP-1   RREB-1   SREBP-1c   Nkx2-5   SREBP-1b   SREBP-1a   HOXA5   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

   Search Chromatin IP Primers for COL6A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL6A2


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

Entrez Gene cytogenetic band: 21q22.3   Ensembl cytogenetic band:  21q22.3   HGNC cytogenetic band: 21q22.3
Nature(405: 311-319) cytogenetic band:   21q22.3
COL6A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL6A2 gene location
GeneLoc information about chromosome 21         GeneLoc Exon Structure

(about GC identifiers)
GC21P047518:   GeneLoc Nature:405,311-319
Start:
47,518,011 bp from pter       33,051,649 bp from centromere
End:
47,552,763 bp from pter 33,059,229 bp from centromere
Size:
34,753 bases 7,581 bases
Orientation:
plus strand plus strand

Whole chromosome sequencing:
cDNA sequence: X15882
genomic clones: PP8G4


(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110 (See protein sequence)
Recommended Name: Collagen alpha-2(VI) chain precursor  
Size: 1019 amino acids; 108579 Da
Subunit: Trimers composed of three different chains: alpha-1(VI), alpha-2(VI), and alpha-3(VI) or alpha-5(VI) or
alpha-6(VI). Interacts with CSPG4
Secondary accessions: Q13909 Q13910 Q13911 Q14048 Q14049 Q16259 Q16597 Q6P0Q1 Q9UML3 Q9Y4S8
Alternative splicing: 3 isoforms:  P12110-1   P12110-2   P12110-3   

Explore the universe of human proteins at neXtProt for COL6A2: NX_P12110

Explore proteomics data for COL6A2 at MOPED

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
  • Glycosylation2 at Asn140, Asn327, Asn630, Asn785, Asn897, Asn954
  • Modification sites at PhosphoSitePlus

  • See COL6A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001840.3  NP_478054.2  NP_478055.2  

    ENSEMBL proteins: 
     ENSP00000300527   ENSP00000390418   ENSP00000387115   ENSP00000380870   ENSP00000395751  
     ENSP00000350497   ENSP00000312529  
    Reactome Protein details: P12110

    COL6A2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

    COL6A2 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    COLLAGEN: Collagens

    2 InterPro protein domains:
     IPR008160 Collagen
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry P12110

    ProtoNet protein and cluster: P12110

    3 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110
    Similarity: Belongs to the type VI collagen family
    Similarity: Contains 3 VWFA domains


    COL6A2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO6A2_HUMAN, P12110
    Function: Collagen VI acts as a cell-binding protein

         Genatlas biochemistry entry for COL6A2:
    collagen type VI,alpha 2 (140kDa),microfibrillar

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent ----
    GO:0005515protein binding IPI12812986
    GO:0030674protein binding, bridging ----
         
    COL6A2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI phenotypic allele for Col6a2 (no phenotypes)

    COL6A2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL6A2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL6A2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL6A2

    miRNA
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    miRTarBase miRNAs that target COL6A2:
    hsa-mir-10a-5p (MIRT047536), hsa-mir-3928-3p (MIRT052889), hsa-mir-10b-5p (MIRT047410), hsa-mir-124-3p (MIRT022605)

    Block miRNA regulation of human, mouse, rat COL6A2 using miScript Target Protectors
    7 qRT-PCR Assays for microRNAs that regulate COL6A2:
    hsa-miR-525-5p hsa-miR-2276 hsa-miR-3919 hsa-miR-29a hsa-miR-29c hsa-miR-520a-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCOL6A2 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for COL6A2
    Predesigned siRNA for gene silencing in human, mouse, rat COL6A2

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for COL6A2

    Clone
    Products:
         
    OriGene clones in human, mouse for COL6A2 (see all 19)
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    GenScript: all cDNA clones in your preferred vector (see all 3): COL6A2 (NM_001849)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COL6A2
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    Cell Line
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    ESI BIO PureStem Progenitors for COL6A2: 
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A2


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CO6A2_HUMAN, P12110: Secreted, extracellular space, extracellular matrix. Membrane; Peripheral membrane protein.
    Note=Recruited on membranes by CSPG4
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane2
    cytosol1
    lysosome1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix ----
    GO:0005581collagen IEA--
    GO:0005615extracellular space IDA--
    GO:0005788endoplasmic reticulum lumen TAS--

    COL6A2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for COL6A2 About   (see all 12)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Integrin Pathway
    FAK1 Signaling0.67
    UPA-UPAR Pathway0.56
    Integrin Pathway0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    4ERK Signaling
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58
    5L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL6A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL6A2
        Focal Adhesion

    Selected Reactome Pathways for COL6A2 (see all 7)
        ECM proteoglycans
    Integrin cell surface interactions
    NCAM1 interactions
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures


    4 Kegg Pathways  (Kegg details for COL6A2):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption


    COL6A2 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including COL6A2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL6A2

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

    Selected Interacting proteins for COL6A2 (P121101, 3 ENSP000003005274) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DISC1Q9NRI51, 3, ENSP000003555964EBI-928749,EBI-529989 I2D: score=2 STRING: ENSP00000355596
    ABCD3P282883, ENSP000003592334I2D: score=2 STRING: ENSP00000359233
    FN1P027513, ENSP000003468394I2D: score=2 STRING: ENSP00000346839
    COL6A1P121093, ENSP000003551804I2D: score=1 STRING: ENSP00000355180
    PXNP490233I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0007411axon guidance TAS--
    GO:0009749response to glucose IEA--
    GO:0016337cell-cell adhesion ----
    GO:0022617extracellular matrix disassembly TAS--

    COL6A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for COL6A2 (CO6A2)

    1 Novoseek inferred chemical compound relationship for COL6A2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 16.5 1 17785673 (1)



    COL6A2 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COL6A2 gene (3 alternative transcripts): 
    NM_001849.3  NM_058174.2  NM_058175.2  

    Unigene Cluster for COL6A2:

    Collagen, type VI, alpha 2
    Hs.420269  [show with all ESTs]
    Unigene Representative Sequence: BC065509
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000300527(uc002zia.1) ENST00000436769 ENST00000409416 ENST00000397763
    ENST00000460886 ENST00000485591 ENST00000413758 ENST00000357838(uc002zhz.1)
    ENST00000310645(uc002zhy.1)
    miRNA
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    7 qRT-PCR Assays for microRNAs that regulate COL6A2:
    hsa-miR-525-5p hsa-miR-2276 hsa-miR-3919 hsa-miR-29a hsa-miR-29c hsa-miR-520a-5p hsa-miR-29b
    SwitchGear 3'UTR luciferase reporter plasmidCOL6A2 3' UTR sequence
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    GenScript: all cDNA clones in your preferred vector (see all 3): COL6A2 (NM_001849)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL6A2
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL6A2
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      QuantiTect SYBR Green Assays in human, mouse, rat COL6A2
      QuantiFast Probe-based Assays in human, mouse, rat COL6A2

    Additional mRNA sequence: 

    AK093995.1 AL360197.1 AY029208.1 BC002484.2 BC065509.1 BT006913.1 CR536573.1 M34570.1 
    M34573.1 X06195.1 X15977.1 

    Selected DOTS entries (see all 39):

    DT.86997407  DT.100880840  DT.91733836  DT.97813008  DT.100880862  DT.95276882  DT.100880848  DT.92461051 
    DT.91922393  DT.100880869  DT.102840102  DT.92461064  DT.95276893  DT.100880858  DT.100880881  DT.121131496 
    DT.102840100  DT.102840099  DT.100045150  DT.95276894  DT.100880867  DT.102840106  DT.121131477  DT.121131551 

    Selected AceView cDNA sequences (see all 1040):

    CF125607 AL042608 CD300666 BU727468 CR626094 CR611112 AK093995 BQ020117 
    CD515598 AL046744 BQ003184 CF125053 BM682989 BE047659 BU628195 CF125632 
    BU631012 AI660462 AL044156 BM729154 CB216903 BG422778 BQ951696 BU687726 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COL6A2 (see all 8)    About this scheme

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

    ExUns: 26a · 26b ^ 27
    SP1:                  
    SP2:                  
    SP3:                  
    SP4:                  
    SP5:                  


    ECgene alternative splicing isoforms for COL6A2

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    COL6A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGCTAAGCG
    COL6A2 Expression
    About this image


    COL6A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 30) fully expand
     
     Fibroblasts (Uncategorized)    fully expand to see all 11 entries
             soft tissue 2 ; fibroblasts   
     
     Dermis (Integumentary System)    fully expand to see all 2 entries
             Human Dermal Fibroblasts-neonate (HDF-n)   
     
     Cartilage (Muscoskeletal System)
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
     
     Lateral Plate Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
     
     Paraxial Mesoderm (Gastrulation Derivatives)
             PureStem E15, Meso-prx/latp Progenitor
    COL6A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL6A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.420269
        Pathway & Disease-focused RT2 Profiler PCR Array including COL6A2: 
              Extracellular Matrix & Adhesion Molecules in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for COL6A2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL6A2
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    QuantiFast Probe-based Assays in human, mouse, rat COL6A2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A2

    (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

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    This gene was present in the common ancestor of animals.

    Orthologs for COL6A2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col6a21 , 5 collagen, type VI, alpha 21, 5 85.38(n)1
    91.07(a)1
      10 (39.32 cM)5
    128341  NM_146007.21  NP_666119.11 
     765957625 
    chicken
    (Gallus gallus)
    Aves COL6A21 collagen, type VI, alpha 2 69.9(n)
    72.11(a)
      396292  NM_205348.3  NP_990679.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL6A26
    collagen, type VI, alpha 2
    69(a)
    1 ↔ 1
    1(123192607-123244010)
    African clawed frog
    (Xenopus laevis)
    Amphibia CB198354.22   -- 73.27(n)    CB198354.2 
    zebrafish
    (Danio rerio)
    Actinopterygii col6a21 collagen, type VI, alpha 2 62.08(n)
    62.15(a)
      567771  XM_691072.5  XP_696164.2 
    worm
    (Caenorhabditis elegans)
    Secernentea mec-56
    Protein MEC-5 (mec-5) mRNA, complete cds
    40(a)
    1 → many
    X(15944009-15948951) WBGene00003169


    ENSEMBL Gene Tree for COL6A2 (if available)
    TreeFam Gene Tree for COL6A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL6A2 gene
    COL28A12  COL6A12  COLEC122  COL6A52  COLQ2  COL6A62  SCARA32  COL17A12  
    COL6A32  
    14 SIMAP similar genes for COL6A2 using alignment to 4 protein entries:     CO6A2_HUMAN (see all proteins):
    COL1A1    COL6A1    COL11A2    COL25A1    COL7A1    COL24A1
    MARCO    COLQ    COL4A3    COL13A1    COL10A1    COL21A1
    COL27A1    COL4A2

    COL6A2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for COL6A2 (see all 1561)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 21 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1417037101,2,,4
    C,FBethlem myopathy (BM)4 --38026734(+) AGGTGG/AAGGTG 6 /K /E mis12Minor allele frequency- A:0.01NA EU 5855
    rs751206951,2,,4
    C,FUllrich congenital muscular dystrophy (UCMD)4 --38040725(+) GGTGCG/ACAACA 6 /H /R mis13Minor allele frequency- A:0.01NA EU 5741
    rs1448309481,2,,4
    C,FBethlem myopathy (BM)4 --38046607(+) GGCCCG/AGCGCT 2 /Q /R mis12Minor allele frequency- A:0.00NA EU 4215
    VAR_0582264
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582262 G R mis40--------
    VAR_0582414
    Bethlem myopathy (BM)4--see VAR_0582412 P L mis40--------
    VAR_0582314
    Bethlem myopathy (BM)4--see VAR_0582312 G S mis40--------
    VAR_0582304
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582302 G R mis40--------
    VAR_0582364
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582362 L P mis40--------
    VAR_0582384
    Ullrich congenital muscular dystrophy (UCMD)4--see VAR_0582382 R S mis40--------
    VAR_0582334
    Bethlem myopathy (BM)4--see VAR_0582332 C R mis40--------

    HapMap Linkage Disequilibrium report for COL6A2 (47518011 - 47552763 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL6A2 (see all 29):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2723889CNV Deletion23290073
    esv2723890CNV Deletion23290073
    esv1002133CNV Deletion20482838
    esv2723891CNV Deletion23290073
    nsv187077CNV Insertion16902084
    esv995411CNV Insertion20482838
    esv1003876CNV Insertion20482838
    esv1546631CNV Insertion17803354
    nsv509804CNV Insertion20534489
    esv1216777CNV Insertion17803354

    Human Gene Mutation Database (HGMD): COL6A2
    Locus Specific Mutation Databases (LSDB): COL6A2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL6A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL6A2

    (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.)
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    OMIM gene information: 120240   
    OMIM disorders: 158810  254090  255600  
    UniProtKB/Swiss-Prot: CO6A2_HUMAN, P12110
  • Bethlem myopathy (BM) [MIM:158810]: A benign autosomal dominant proximal myopathy characterized by early
    childhood onset and joint contractures most frequently affecting the elbows and ankles. Note=The disease is
    caused by mutations affecting the gene represented in this entry
  • Ullrich congenital muscular dystrophy (UCMD) [MIM:254090]: UCMD is a congenital myopathy characterized by
    muscle weakness and multiple joint contractures, generally noted at birth or early infancy. The clinical course
    is more severe than in Bethlem myopathy. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Myosclerosis autosomal recessive (MYOSAR) [MIM:255600]: A condition characterized by chronic inflammation
    of skeletal muscle with hyperplasia of the interstitial connective tissue. The clinical picture includes slender
    muscles with firm 'woody' consistency and restriction of movement of many joints because of muscle contractures.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • Selected diseases for COL6A2 (see all 30):    
    About MalaCards
    myosclerosis, congenital    autosomal recessive myosclerosis myopathy    myosclerosis, autosomal recessive    collagen type vi-related disorders
    ullrich congenital muscular dystrophy    bethlem myopathy    congenital muscular dystrophy    myopathy congenital
    was-related disorders    myopathy    muscular dystrophy    epilepsy syndrome
    progressive myoclonus epilepsy    intracranial aneurysm    congenital heart defect    myoclonus epilepsy
    adrenoleukodystrophy    down syndrome    endocarditis    myoclonus

    2 diseases from the University of Copenhagen DISEASES database for COL6A2:
    Myopathy     Neuropathy

    COL6A2 for disorders           About GeneDecksing

    6 Novoseek inferred disease relationships for COL6A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ullrich congenital muscular dystrophy 98.4 16 12218063 (2), 16447767 (2), 18761340 (1), 15563506 (1) (see all 14)
    bethlem myopathy 97.2 11 15563506 (2), 16447767 (1), 8817344 (1), 18366090 (1) (see all 9)
    contracture 73.2 3 15563506 (1), 8817344 (1), 12840783 (1)
    muscular dystrophies 70.2 1 14755496 (1)
    myopathy 60.5 3 18761340 (1), 20302629 (1), 8817344 (1)
    down syndrome 47.2 3 8094066 (2), 9491853 (1)

    GeneTests: COL6A2
    GeneReviews: COL6A2
    Genetic Association Database (GAD): COL6A2
    Human Genome Epidemiology (HuGE) Navigator: COL6A2 (1 document)

    Export disorders for COL6A2 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)
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    PubMed articles for COL6A2 gene, integrated from 10 sources (see all 79):
    (articles sorted by number of sources associating them with COL6A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. (PubMed id 15563506)1, 2, 9 Baker N.L.... Lamande S.R. (Hum. Mol. Genet. 2005)
    2. Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease. (PubMed id 19204726)1, 4 Chapuis J....Lambert J.C. (Mol. Psychiatry 2009)
    3. Autosomal recessive myosclerosis myopathy is a collagen VI disorder. (PubMed id 18852439)1, 2 Merlini L.... Bonaldo P. (Neurology 2008)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (PubMed id 11865138)1, 2 Scacheri P.C.... Hoffman E.P. (Neurology 2002)
    6. The membrane-spanning proteoglycan NG2 binds to collagens V and VI through the central nonglobular domain of its core protein. (PubMed id 9099729)1, 2 Tillet E.... Stallcup W.B. (J. Biol. Chem. 1997)
    7. Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures. (PubMed id 8782832)1, 2 Joebsis G.J.... Bohlhuis P.A. (Nat. Genet. 1996)
    8. Recombinant expression and structural and binding properties of alpha 1(VI) and alpha 2(VI) chains of human collagen type VI. (PubMed id 8168508)1, 2 Tillet E.... Timpl R. (Eur. J. Biochem. 1994)
    9. Expression of NG2 proteoglycan causes retention of type VI collagen on the cell surface. (PubMed id 8305732)1, 2 Nishiyama A. and Stallcup W.B. (Mol. Biol. Cell 1993)
    10. Human alpha 2(VI) collagen gene. Heterogeneity at the 5'-untranslated region generated by an alternate exon. (PubMed id 1556127)1, 2 Saitta B.... Chu M.-L. (J. Biol. Chem. 1992)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 1292 HGNC: 2212 AceView: COL6A2 Ensembl:ENSG00000142173 euGenes: HUgn1292
    ECgene: COL6A2 Kegg: 1292 H-InvDB: COL6A2

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for COL6A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL6A2[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL6A2 gene:
    Search GeneIP for patents involving COL6A2

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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