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COL5A2 Gene

protein-coding   GIFtS: 64
GCID: GC02M189861

Collagen, Type V, Alpha 2

  See COL5A2-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 V, Alpha 21 2
AB Collagen1 2
Collagen Alpha-2(V) Chain2
Collagen, Fetal Membrane, A Polypeptide2
Type V Preprocollagen Alpha 2 Chain2

External Ids:    HGNC: 22101   Entrez Gene: 12902   Ensembl: ENSG000002042627   OMIM: 1201905   UniProtKB: P059973   

Export aliases for COL5A2 gene to outside databases

Previous GC identifers: GC02U990016 GC02M188580 GC02M190100 GC02M190101 GC02M189722 GC02M189604 GC02M181756


(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 COL5A2 Gene:
This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules
are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues
containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and
type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen
chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in
this gene are associated with Ehlers-Danlos syndrome, types I and II. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL5A2 Gene:
COL5A2 (collagen, type V, alpha 2) is a protein-coding gene. Diseases associated with COL5A2 include ehlers-danlos syndrome, classic type, col5a2-related, and ehlers?Óˇdanlos syndrome classical type. GO annotations related to this gene include extracellular matrix structural constituent and SMAD binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO5A2_HUMAN, P05997
Function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective
tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate,
thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific
matrices (By similarity)

Gene Wiki entry for COL5A2 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)
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RefSeq DNA sequence at NCBI GenBank:
NC_000002.11  NC_018913.2  NT_005403.18  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL5A2 gene promoter:
         CUTL1   C/EBPalpha   HNF-1A   CHOP-10   HNF-1   FOXO1a   STAT3   Meis-1   En-1   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL5A2 promoter sequence
   Search Chromatin IP Primers for COL5A2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL5A2


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

Entrez Gene cytogenetic band: 2q14-q32   Ensembl cytogenetic band:  2q32.2   HGNC cytogenetic band: 2q14-q32

COL5A2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL5A2 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M189861:  view genomic region     (about GC identifiers)

Start:
189,896,622 bp from pter      End:
190,044,605 bp from pter
Size:
147,984 bases      Orientation:
minus 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., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CO5A2_HUMAN, P05997 (See protein sequence)
Recommended Name: Collagen alpha-2(V) chain precursor  
Size: 1499 amino acids; 144910 Da
Subunit: Trimers of two alpha 1(V) and one alpha 2(V) chains in most tissues and trimers of one alpha 1(V), one
alpha 2(V), and one alpha 3(V) chains in placenta
Sequence caution: Sequence=AAH43613.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAY24185.1; Type=Erroneous gene model prediction; Sequence=BAD92282.1; Type=Erroneous initiation;
Note=Translation N-terminally shortened;
1 PDB 3D structure from and Proteopedia for COL5A2:
1A9A (3D)    
Secondary accessions: P78440 Q13908 Q53WR4 Q59GR4 Q6LDJ5 Q7KZ55 Q86XF6 Q96QB0 Q96QB3

Explore the universe of human proteins at neXtProt for COL5A2: NX_P05997

Explore proteomics data for COL5A2 at MOPED

Post-translational modifications: 

  • Prolines at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the
    chains. Probably 3-hydroxylated on Pro-919 and Pro-1156 by LEPREL11
  • Glycosylation2 at Thr1015, Asn1262, Asn1400
  • Modification sites at PhosphoSitePlus

  • See COL5A2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000384.2  
    ENSEMBL proteins: 
     ENSP00000364000  
    Reactome Protein details: P05997

    COL5A2 Human Recombinant Protein Products:

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    Sino Biological Recombinant Protein for COL5A2
    Sino Biological Cell Lysate for COL5A2
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    Browse Proteins at Cloud-Clone Corp.

     
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    antibodies-online proteins for COL5A2 (2 products) 

     
    antibodies-online peptides for COL5A2

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    antibodies-online antibodies for COL5A2 (6 products) 

    COL5A2 Assay Products:

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for COL5A2 
    antibodies-online kits for COL5A2 (13 products) 


    (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

    3 InterPro protein domains:
     IPR000885 Fib_collagen_C
     IPR001007 VWF_C
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P05997

    ProtoNet protein and cluster: P05997

    4 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB001007 von Willebrand factor
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO5A2_HUMAN, P05997
    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


    Find genes that share domains with COL5A2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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: CO5A2_HUMAN, P05997
    Function: Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective
    tissue component of nearly ubiquitous distribution. Type V collagen binds to DNA, heparan sulfate,
    thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific
    matrices (By similarity)

         Genatlas biochemistry entry for COL5A2:
    collagen type V,alpha 2,fibril forming

         Gene Ontology (GO): 5 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005201extracellular matrix structural constituent IEA--
    GO:0005515protein binding ----
    GO:0046332SMAD binding IEA--
    GO:0046872metal ion binding IEA--
         
    Find genes that share ontologies with COL5A2           About GenesLikeMe


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col5a2):
     behavior/neurological  growth/size/body  integument  mortality/aging  respiratory system 
     skeleton  vision/eye 

    Find genes that share phenotypes with COL5A2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col5a2tm1Rmz for COL5A2

       genOway: Develop your customized and physiologically relevant rodent model for COL5A2

    miRNA
    Products:
        
    miRTarBase miRNAs that target COL5A2:
    hsa-mir-222-3p (MIRT046753), hsa-mir-21-5p (MIRT030666)

    Block miRNA regulation of human, mouse, rat COL5A2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL5A2 (see all 39):
    hsa-miR-3678-3p hsa-let-7d hsa-miR-29a hsa-miR-578 hsa-miR-105 hsa-let-7g hsa-let-7a hsa-miR-616
    SwitchGear 3'UTR luciferase reporter plasmidCOL5A2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL5A2

    Gene Editing
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COL5A2

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A2


    (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
    CO5A2_HUMAN, P05997: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum4
    extracellular4
    plasma membrane1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005588collagen type V IMP9425231
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012extracellular matrix NAS17666000

    Find genes that share ontologies with COL5A2           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 COL5A2 About   (see all 9)  
    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
    5Phospholipase-C Pathway
    Phospholipase-C Pathway0.56
    PTEN Pathway0.56


    Find genes that share SuperPaths with COL5A2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL5A2 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL5A2
        Focal Adhesion


    Selected Reactome Pathways for COL5A2 (see all 10)
        Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation
    ECM proteoglycans


    5 Kegg Pathways  (Kegg details for COL5A2):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL5A2: 
              Wound Healing in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for COL5A2

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

    Selected Interacting proteins for COL5A2 (P059973 ENSP000003640004) via UniProtKB, MINT, STRING, and/or I2D (see all 78)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DDR1Q083453, ENSP000004060914I2D: score=2 STRING: ENSP00000406091
    ENSG00000137332Q083453I2D: score=2 
    ENSG00000215522Q083453I2D: score=2 
    ENSG00000230456Q083453I2D: score=2 
    ENSG00000234078Q083453I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0007411axon guidance TAS--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization ISS--

    Find genes that share ontologies with COL5A2           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 COL5A2 (CO5A2)



    (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 COL5A2 gene: 
    NM_000393.3  

    Unigene Cluster for COL5A2:

    Collagen, type V, alpha 2
    Hs.445827  [show with all ESTs]
    Unigene Representative Sequence: NM_000393
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374866(uc010frx.3 uc002uqk.3) ENST00000470524
    miRNA
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    hsa-miR-3678-3p hsa-let-7d hsa-miR-29a hsa-miR-578 hsa-miR-105 hsa-let-7g hsa-let-7a hsa-miR-616
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      QuantiFast Probe-based Assays in human, mouse, rat COL5A2

    Additional mRNA sequence: 

    AB209045.1 AK297936.1 AK300146.1 BC015705.1 BC043613.1 BC086874.1 J04478.1 M10956.1 
    M11718.1 M31365.1 X04758.1 Y14690.1 

    17 DOTS entries:

    DT.99973450  DT.119817  DT.97805313  DT.97773777  DT.100702364  DT.92442586  DT.100652866  DT.75193004 
    DT.102835429  DT.120969460  DT.121627132  DT.91983311  DT.92442585  DT.95368986  DT.97814202  DT.99979295 
    DT.99998182 

    Selected AceView cDNA sequences (see all 520):

    AA121511 AI052797 AW069514 AW008422 AI754803 BQ343832 AW073493 BE302102 
    CB163716 BF939492 AW196741 AI670785 BX113441 W57799 AA346374 AW302579 
    AI357733 AA330407 BE764164 AI457114 BP373073 BE764212 BM973812 BQ343908 

    GeneLoc Exon Structure


    (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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    COL5A2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GACGATCAAG
    COL5A2 Expression
    About this image


    COL5A2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 3 entries
             Inner Cell Mass Cells Inner Cell Mass
             Human embryonic stem cells (family)
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Extraembryonic Angioblasts Extraembryonic Capillary Plexus
             Human umbilical vein endothelial cells (HUVEC)
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Crescent Cells Cardiac Crescent
     
     NULL (Uncategorized)
             Vascular endothelial growth factor-induced cells
    COL5A2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL5A2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.445827
        Pathway & Disease-focused RT2 Profiler PCR Arrays including COL5A2: 
              Wound Healing in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COL5A2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COL5A2
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    QuantiFast Probe-based Assays in human, mouse, rat COL5A2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A2

    (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 animals.

    Orthologs for COL5A2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col5a21 , 5 collagen, type V, alpha 21, 5 89.13(n)1
    94.79(a)1
      1 (23.69 cM)5
    128321  NM_007737.21  NP_031763.21 
     453743215 
    chicken
    (Gallus gallus)
    Aves COL5A21 collagen, type V, alpha 2 80.57(n)
    89.76(a)
      423986  XM_004942396.1  XP_004942453.1 
    lizard
    (Anolis carolinensis)
    Reptilia COL5A26
    collagen, type V, alpha 2
    85(a)
    1 ↔ 1
    GL343290.1(1535974-1721555)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia col5a21 collagen, type V, alpha 2 74.47(n)
    82.08(a)
      100492754  XM_002931500.2  XP_002931546.2 
    zebrafish
    (Danio rerio)
    Actinopterygii col5a2a1 collagen, type V, alpha 2a 69.46(n)
    74.25(a)
      564821  NM_001145782.1  NP_001139254.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C6
    Collagen type IV
    27(a)
    1 → many
    2L(5029609-5037279)


    ENSEMBL Gene Tree for COL5A2 (if available)
    TreeFam Gene Tree for COL5A2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL5A2 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    13 SIMAP similar genes for COL5A2 using alignment to 3 protein entries:     CO5A2_HUMAN (see all proteins):
    COL2A1    DKFZp434L081    COL1A1    COL1A2    COL3A1    COL7A1
    COL11A1    COL5A1    SFTPD    C1QTNF9B    COL5A3    ECM2
    C1QTNF9

    Find genes that share paralogs with COL5A2           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 COL5A2 (see all 2955)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0135884
    Ehlers-Danlos syndrome 2 (EDS2)4--see VAR_0135882 G R mis40--------
    rs58371191,2
    C--181773306(+) AAGGGG/-AAAGA 1 -- int1 trp32Minor allele frequency- -:0.25NA CSA 4
    rs674563961,2
    C--181802510(+) AAAAG-/AAAAAA 1 -- int11Minor allele frequency- A:0.00CSA 2
    rs2004734981,2
    C--181839072(+) AAAAA-/TGTTTC 1 -- int10--------
    rs58371271,2
    C--181842156(+) TACTC-/T/TTT 
            
    TTTTT
    2 -- int1 cds1 trp31NA 2
    rs2003024381,2
    --181873805(+) ATATC-/TGATTGA 1 -- int10--------
    rs67172311,2
    C,F,A,H--189282754(+) gagggC/Aaagag 1 -- ds500124Minor allele frequency- A:0.16NS EA NA WA CSA 2355
    rs743820771,2
    C,F--189282765(+) TGCATG/ACCTGA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1497668461,2
    --189282803(+) TCAGGC/TGAGAC 1 -- ds50010--------
    rs1459006251,2
    --189282834(+) GATAAC/TGGCAG 1 -- ds50010--------

    HapMap Linkage Disequilibrium report for COL5A2 (189896622 - 190044605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for COL5A2:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721258CNV Deletion23290073
    nsv214396CNV Insertion16902084
    esv273345CNV Insertion20981092
    esv269940CNV Insertion20981092
    esv1526387CNV Insertion17803354
    nsv875610CNV Loss21882294
    nsv875613CNV Loss21882294
    nsv3074CNV Loss18451855
    nsv821859CNV Gain20364138

    Human Gene Mutation Database (HGMD): COL5A2
    Locus Specific Mutation Databases (LSDB): COL5A2

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL5A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL5A2

    (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: 120190   
    OMIM disorders: 130000  
    UniProtKB/Swiss-Prot: CO5A2_HUMAN, P05997
  • Ehlers-Danlos syndrome 1 (EDS1) [MIM:130000]: A connective tissue disorder characterized by
    hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDS1 is the severe
    form of classic Ehlers-Danlos syndrome. Note=The disease is caused by mutations affecting the gene represented in
    this entry
  • Ehlers-Danlos syndrome 2 (EDS2) [MIM:130010]: Mild form of classic Ehlers-Danlos syndrome. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 8 diseases for COL5A2:    
    About MalaCards
    ehlers-danlos syndrome, classic type, col5a2-related    ehlers?Óˇdanlos syndrome classical type    familial cervical artery dissections    type i ehlers-danlos syndrome
    larsen-like syndrome    ehlers-danlos syndrome    stickler syndrome    nail-patella syndrome

    1 disease from the University of Copenhagen DISEASES database for COL5A2:
    Ehlers-Danlos syndrome

    Find genes that share disorders with COL5A2           About GenesLikeMe

    2 Novoseek inferred disease relationships for COL5A2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    ehlers-danlos syndrome, type i 94.7 1 8923000 (1)
    ehlers-danlos syndrome 91.4 1 16431952 (1)

    GeneTests: COL5A2
    GeneReviews: COL5A2
    Genetic Association Database (GAD): COL5A2
    Human Genome Epidemiology (HuGE) Navigator: COL5A2 (12 documents)

    Export disorders for COL5A2 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 COL5A2 gene, integrated from 10 sources (see all 73):
    (articles sorted by number of sources associating them with COL5A2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. (PubMed id 11566270)1, 2, 9 Valkkila M....Ala-Kokko L. (Matrix Biol. 2001)
    2. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. (PubMed id 9783710)1, 2, 9 Richards A.J....Burrows N.P. (J. Med. Genet. 1998)
    3. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. (PubMed id 11940702)1, 2, 9 Grond-Ginsbach C.... Brandt T. (Neurology 2002)
    4. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce Ehlers-Danlos syndrome type I. (PubMed id 9425231)1, 2, 9 Michalickova K.... Cole W.G. (Hum. Mol. Genet. 1998)
    5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)1, 4 Ryckman K.K....Jacobsson B. (PLoS ONE 2010)
    6. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    7. A genetic association study of maternal and fetal candidate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    9. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    10. Spontaneous preterm birth in African Americans is associated with infection and inflammatory response gene variants. (PubMed id 19019335)1, 4 Velez D.R....Menon R. (Am. J. Obstet. Gynecol. 2009)

    (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: 1290 HGNC: 2210 AceView: COL5A2 Ensembl:ENSG00000204262 euGenes: HUgn1290
    ECgene: COL5A2 Kegg: 1290 H-InvDB: COL5A2

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for COL5A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL5A2[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 COL5A2 gene:
    Search GeneIP for patents involving COL5A2

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



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