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COL6A5 Gene

protein-coding   GIFtS: 51
GCID: GC03P130065

Collagen, Type VI, Alpha 5

(Previous names: collagen, type XXIX, alpha 1)
(Previous symbol: COL29A1)
  See COL6A5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Collagen, Type VI, Alpha 51 2     Von Willebrand Factor A Domain-Containing Protein 42 3
COL29A11 2 3 5     Von Willebrand Factor A Domain Containing 41
Collagen, Type XXIX, Alpha 11 2     Collagen Alpha-5(VI) Chain2
VWA42 3     Collagen Alpha-1(XXIX) Chain3

External Ids:    HGNC: 266741   Entrez Gene: 2560762   Ensembl: ENSG000001727527   OMIM: 6119165   UniProtKB: A8TX703   

Export aliases for COL6A5 gene to outside databases

Previous GC identifer: GC03P127449


(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 COL6A5 Gene:
This gene encodes a member of the collagen superfamily of proteins. The encoded protein contains multiple von
Willebrand factor A-like domains and may interact with the alpha 1 and alpha 2 chains of collagen VI to form the
complete collagen VI trimer. Polymorphisms in this gene may be linked to dermal phenotypes, such as eczema.
Alternative splicing results in multiple transcript variants. (provided by RefSeq, May 2013)

GeneCards Summary for COL6A5 Gene:
COL6A5 (collagen, type VI, alpha 5) is a protein-coding gene. Diseases associated with COL6A5 include bethlem myopathy, and ullrich congenital muscular dystrophy. An important paralog of this gene is COL28A1.

UniProtKB/Swiss-Prot: CO6A5_HUMAN, A8TX70
Function: Collagen VI acts as a cell-binding protein (By similarity)




(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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_005612.17  
Regulatory elements:
   Search for regulatory transcription factor binding sites for COL6A5
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for COL6A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL6A5


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

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

COL6A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL6A5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P130065:  view genomic region     (about GC identifiers)

Start:
130,064,359 bp from pter      End:
130,203,688 bp from pter
Size:
139,330 bases      Orientation:
plus strand

(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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, 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: CO6A5_HUMAN, A8TX70 (See protein sequence)
Recommended Name: Collagen alpha-5(VI) chain precursor  
Size: 2615 amino acids; 289926 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) (Probable)
Sequence caution: Sequence=BAC04092.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC04092.1; Type=Frameshift; Positions=2591; Sequence=BAC85681.1; Type=Erroneous initiation;
Secondary accessions: A9J6L2 A9J6L4 A9J6L6 A9J6L7 A9J6M0 A9J6M1 A9J6M2 B5MEA7 Q6ZW26 Q8NA36
Alternative splicing: 2 isoforms:  A8TX70-1   A8TX70-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for COL6A5: NX_A8TX70

Explore proteomics data for COL6A5 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
    chains (By similarity)1
  • Glycosylation2 at Asn201, Asn260, Asn835, Asn2509
  • Modification sites at PhosphoSitePlus

  • See COL6A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001265227.1  NP_694996.5  

    ENSEMBL proteins: 
     ENSP00000309762   ENSP00000422898   ENSP00000362250   ENSP00000424968   ENSP00000390895  
     ENSP00000265379  
    Reactome Protein details: A8TX70

    COL6A5 Human Recombinant Protein Products:

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    Browse Sino Biological Cell Lysates
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    Browse Proteins at Cloud-Clone Corp.

     
    Search eBioscience for Proteins for COL6A5 

    COL6A5 Antibody Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for COL6A5 


    (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 A8TX70

    ProtoNet protein and cluster: A8TX70

    UniProtKB/Swiss-Prot: CO6A5_HUMAN, A8TX70
    Similarity: Belongs to the type VI collagen family
    Similarity: Contains 10 VWFA domains


    Find genes that share domains with COL6A5           About GenesLikeMe


    (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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO6A5_HUMAN, A8TX70
    Function: Collagen VI acts as a cell-binding protein (By similarity)

    Animal Models:

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL6A5
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL6A5
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COL6A5

    miRNA
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    miRTarBase miRNAs that target COL6A5:
    hsa-mir-335-5p (MIRT019045)

    Block miRNA regulation of human, mouse, rat COL6A5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COL6A5:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOL6A5 3' UTR sequence
    Inhib. RNA
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    Browse Sino Biological Human cDNA Clones
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A5


    (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
    CO6A5_HUMAN, A8TX70: Secreted, extracellular space, extracellular matrix (By similarity). Note=Deposed in the
    extracellular matrix of skeletal muscle (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum3
    plasma membrane1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen IEA--
    GO:0031012colocalizes with extracellular matrix ISS--

    Find genes that share ontologies with COL6A5           About GenesLikeMe


    (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 COL6A5 About   (see all 6)  
    See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Assembly of collagen fibrils and other multimeric structures0.62
    Collagen formation0.75
    2L1CAM interactions
    Axon guidance0.63
    Developmental Biology0.63
    3NCAM signaling for neurite out-growth
    NCAM1 interactions0.59
    NCAM signaling for neurite out-growth0.59
    4Signaling by FGFR
    Signaling by PDGF0.87
    5Signaling by GPCR
    Signal Transduction0.58


    Find genes that share SuperPaths with COL6A5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    Selected Reactome Pathways for COL6A5 (see all 7)
        ECM proteoglycans
    Integrin cell surface interactions
    NCAM1 interactions
    Collagen biosynthesis and modifying enzymes
    Assembly of collagen fibrils and other multimeric structures


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL6A5
    Interactions:

        Search GeneGlobe Interaction Network for COL6A5

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for COL6A5 (ENSP000003097624) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 4 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    Find genes that share ontologies with COL6A5           About GenesLikeMe



    (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 COL6A5 (CO6A5)



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for COL6A5 gene (2 alternative transcripts): 
    NM_001278298.1  NM_153264.6  

    Unigene Cluster for COL6A5:

    Collagen, type VI, alpha 5
    Hs.205403  [show with all ESTs]
    Unigene Representative Sequence: EU085556
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000312481(uc010hti.1 uc010htj.1) ENST00000512836(uc021xdz.1)
    ENST00000373157 ENST00000512482 ENST00000432398 ENST00000265379(uc010htk.1)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat COL6A5 using miScript Target Protectors
    1 qRT-PCR Assays for microRNA that regulate COL6A5:
    hsa-miR-330-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOL6A5 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for COL6A5
    Predesigned siRNA for gene silencing in human, mouse, rat COL6A5
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat COL6A5
      QuantiFast Probe-based Assays in human, mouse, rat COL6A5

    Additional mRNA sequence: 

    AK093199.1 AK123718.1 AM906078.1 AM906079.1 AM906080.1 AM906081.1 AM906082.1 AM906083.1 
    AM906084.1 EU085556.1 NR_022012.1 

    5 DOTS entries:

    DT.101975688  DT.120851496  DT.99998351  DT.120860937  DT.120863309 

    9 AceView cDNA sequences:

    BX097868 AK093199 AX747986 CA438505 NM_153264 AK123718 BG192944 AI743837 
    BG193493 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for COL6A5    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9
    SP1:                                                            
    SP2:                                            -     -         


    ECgene alternative splicing isoforms for COL6A5

    (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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    COL6A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CTTTGCTTTG
    COL6A5 Expression
    About this image


    COL6A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
    COL6A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL6A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.205403

    UniProtKB/Swiss-Prot: CO6A5_HUMAN, A8TX70
    Tissue specificity: Expressed in skin, followed by lung, small intestine, colon and testis. In skin, it is
    expressed in the epidermis with strongest staining in suprabasal viable layers. In ATOD patients, it is absent in
    the most differentiated upper spinous and granular layers (at protein level)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL6A5

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for COL6A5 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col6a51 , 5 collagen, type VI, alpha 51, 5 78.89(n)1
    73.97(a)1
      9 (57.34 cM)5
    6650331  NM_001167923.11  NP_001161395.11 
     1058586685 
    chicken
    (Gallus gallus)
    Aves --
    Uncharacterized protein
    33(a)
    many ↔ many
    2(42137315-42175947)
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    21(a)
    many ↔ many
    GL343362.1(331780-397712)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col6a61 collagen, type VI, alpha 6 54.36(n)
    43.1(a)
      100487679  XM_002937742.2  XP_002937788.2 
    zebrafish
    (Danio rerio)
    Actinopterygii col6a66
    collagen, type VI, alpha 6
    30(a)
    many ↔ many
    16(38076697-38125338) ENSDARG00000079752


    ENSEMBL Gene Tree for COL6A5 (if available)
    TreeFam Gene Tree for COL6A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL6A5 gene
    COL28A12  COL6A12  COLEC122  COLQ2  COL6A62  COL6A22  SCARA32  COL17A12  
    COL6A32  
    8 SIMAP similar genes for COL6A5 using alignment to 6 protein entries:     CO6A5_HUMAN (see all proteins):
    COL6A6    COCH    COL21A1    COL6A3    MATN1    COL13A1
    MSR1    VIT

    Find genes that share paralogs with COL6A5           About GenesLikeMe



    (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 COL6A5 (see all 3149)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs674458191,2
    C--127517571(+) CATTT-/GACTGC 2 -- int10--------
    rs732147291,2
    C--127523885(+) AAGAAA/GGAAGG 2 -- int10--------
    rs357857421,2
    C--127523887(+) GAAAG-/GAAG/ 
    GAAGGAAG
    AAGGA
    2 -- int10--------
    rs113557961,2
    C,F--127575593(+) GCACAT/-TTAGA 2 -- int1 nc-transcript-variant4Minor allele frequency- -:0.38NA 8
    rs349066541,2
    C--127579272(+) TAAAG-/ACAAAA 2 -- int10--------
    rs729963971,2
    C--130048138(+) CCATTC/TAAATC 2 -- us2k11Minor allele frequency- T:0.50WA 2
    rs790923611,2
    --130048262(+) GCTATC/GTTTTA 2 -- us2k10--------
    rs1412864061,2
    --130048322(+) AAGGTC/TGGGTT 2 -- us2k10--------
    rs1856250061,2
    --130048459(+) TGAAAA/CCCAAG 2 -- us2k10--------
    rs1507742171,2
    --130048477(+) AAGTAA/GGTTCA 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for COL6A5 (130064359 - 130203688 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL6A5 (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662769CNV Deletion23128226
    esv2665713CNV Deletion23128226
    esv269755CNV Insertion20981092
    esv23758CNV Loss19812545
    esv34166CNV Loss18971310
    nsv460854CNV Loss19166990
    nsv515803CNV Loss19592680
    nsv437881CNV Loss16468122
    nsv437854CNV Loss16327808
    dgv5258n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): COL6A5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL6A5
    DNA2.0 Custom Variant and Variant Library Synthesis for COL6A5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 611916    OMIM disorders: --

    UniProtKB/Swiss-Prot: CO6A5_HUMAN, A8TX70
  • Note=Patients affected by atopic dermatitis display an abnormal distribution of COL29A1 mRNA and protein
    in skin suggesting that COL29A1 may be involved in the pathogenesis of the disease

  • 2 diseases for COL6A5:    
    About MalaCards
    bethlem myopathy    ullrich congenital muscular dystrophy

    2 diseases from the University of Copenhagen DISEASES database for COL6A5:
    Ullrich congenital muscular dystrophy     Bethlem myopathy

    Find genes that share disorders with COL6A5           About GenesLikeMe

    Genetic Association Database (GAD): COL6A5
    Human Genome Epidemiology (HuGE) Navigator: COL6A5 (3 documents)

    Export disorders for COL6A5 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 COL6A5 gene, integrated from 10 sources (see all 13):
    (articles sorted by number of sources associating them with COL6A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. (PubMed id 17850181)1, 2, 3 Soederhaell C.... Lee Y.-A. (PLoS Biol. 2007)
    2. Three novel collagen VI chains with high homology to the alpha 3 chain. (PubMed id 18276594)1, 2 Gara S.K.... Wagener R. (J. Biol. Chem. 2008)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    4. Expression of collagen VI I+5 and I+6 chains in human muscle and in Duchenne muscular dystrophy-related muscle fibrosis. (PubMed id 22226732)1 Sabatelli P....Wagener R. (Matrix Biol. 2012)
    5. Expression of the collagen VI I+5 and I+6 chains in normal human skin and in skin of patients with collagen VI-related myopathies. (PubMed id 20882040)1 Sabatelli P....Wagener R. (J. Invest. Dermatol. 2011)
    6. Activity-based chemical proteomics accelerates inhibitor development for deubiquitylating enzymes. (PubMed id 22118674)1 Altun M....Kessler B.M. (amp 2011)
    7. A comprehensive analysis of the COL29A1 gene does not support a role in eczema. (PubMed id 21353297)1 Naumann A....Weidinger S. (J. Allergy Clin. Immunol. 2011)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Variation in the COL29A1 gene in German patients with atopic dermatitis, asthma and chronic obstructive pulmonary disease. (PubMed id 20649719)1 Harazin M....Stemmler S. (J. Dermatol. 2010)
    10. A pooling-based genome-wide analysis identifies new potential candidate genes for atopy in the European Community Respiratory Health Survey (ECRHS). (PubMed id 19961619)1 Castro-Giner F....de Cid R. (BMC Med. Genet. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 256076 HGNC: 26674 AceView: FLJ35880 Ensembl:ENSG00000172752 euGenes: HUgn256076
    ECgene: COL6A5 H-InvDB: COL6A5

    (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 COL6A5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL6A5 gene:
    Search GeneIP for patents involving COL6A5

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



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