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

COL5A2 Gene

protein-coding   GIFtS: 63
GCID: GC02M189861

Collagen, Type V, 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, and/or 15RNAdb)
About This Section

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 larsen-like syndrome, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. GO annotations related to this gene include molecular_function 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NT_005403.17  NC_018913.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL5A2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
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:

  • UniProtKB: 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 LEPREL1
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P05997

  • COL5A2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL5A2 Protein Expression
    REFSEQ proteins: NP_000384.2  
    ENSEMBL proteins: 
     ENSP00000364000  
    Reactome Protein details: P05997
    Human Recombinant Protein Products for COL5A2: 
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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    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

    COL5A2 for ontologies           About GeneDecksing



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


    COL5A2 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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    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--
         
    COL5A2 for ontologies           About GeneDecksing


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

    COL5A2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col5a2tm1Rmz for COL5A2

       inGenious Targeting Laboratory - Custom generated mouse model solutions for COL5A2 
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL5A2 
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    SwitchGear 3'UTR luciferase reporter plasmidCOL5A2 3' UTR sequence
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    (Pathways according to EMD Millipore, 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 SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL5A2 About   (see all 15)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM-receptor interaction0.42
    Syndecan interactions0.44
    ECM proteoglycans0.38
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/15 Downloadable PowerPoint Slides of QIAGEN 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


    5/18        Reactome Pathways for COL5A2 (see all 18)
        Syndecan interactions
    Developmental Biology
    Assembly of collagen fibrils and other multimeric structures
    ECM proteoglycans
    Extracellular matrix organization


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


    COL5A2 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL5A2

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

    5/77 Interacting proteins for COL5A2 (P059973 ENSP000003640004) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    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): 5/9 biological process terms (GO ID links to tree view) (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--

    COL5A2 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for COL5A2 (CO5A2)

    Search CenterWatch for drugs/clinical trials and news about 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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
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    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 

    24/520 AceView cDNA sequences (see all 520):

    BM993821 H88165 AI285518 BE764212 M31365 BU632899 AA333851 CB159178 
    CN479353 BQ019983 AA329886 BQ343900 AU077196 BF197847 AW191921 BM833161 
    BQ343904 BQ716101 BQ343910 W87487 AA346374 AI537635 AI200515 AW068455 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL5A2 expression in normal human tissues (normalized intensities)      COL5A2 embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Tendon & Ligament (Muscoskeletal System)    fully expand to see all 4 entries
             Early Tenocyte Cells Limb Tendon Primordia
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Cardiac Crescent Cells Cardiac Crescent
             Cardiac Myocytes   
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Peripheral blood endothelial colony-forming cells
             Endothelial progenitor cells ( Derivation and purification of endothelial precursor...
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Inner Cell Mass Cells Inner Cell Mass
             Line H9 (WA09)
     
     Gut Tube (Gastrointestinal Tract)
             Definitive endoderm-like cells ( A scalable, suspension protocol for derivation of...

    See COL5A2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL5A2

    SOURCE GeneReport for Unigene cluster: Hs.445827
        SABiosciences Expression via Pathway-Focused PCR Arrays including COL5A2: 
              Wound Healing in human mouse rat
              Epithelial to Mesenchymal Transition (EMT) in human mouse rat

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for COL5A2 gene from 4/9 species (see all 9)    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 89.25(n)1
    94.92(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 80.66(n)
    89.89(a)
      423986  XM_421846.3  XP_421846.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL5A26
    collagen, type V, alpha 2
    85(a)
    1 ↔ 1
    GL343290.1(1535974-1721555)
    zebrafish
    (Danio rerio)
    Actinopterygii col5a2a1 collagen, type V, alpha 2a 68.48(n)
    72.04(a)
      564821  NM_001145782.1  NP_001139254.1 


    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)
    About This Section
    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

    COL5A2 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2955 SNPs in COL5A2 are shown (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--------
    VAR_0579124
    ----see VAR_0579122 T S mis40--------
    VAR_0579134
    ----see VAR_0579132 D V 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

    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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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

  • 17 diseases for COL5A2:    About MalaCards
    ehlers-danlos syndrome, classic type, col5a2-related    larsen-like syndrome    arterial tortuosity syndrome    ehlers-danlos syndrome
    hypermobility syndrome    cervical incompetence    stickler syndrome    nail-patella syndrome
    marfan syndrome    mitral valve prolapse    was-related disorders    rhabdomyosarcoma
    coronary heart disease    osteoarthritis    cervicitis    squamous cell carcinoma
    adenocarcinoma

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

    COL5A2 for disorders           About GeneDecksing

    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)
    About This Section

    PubMed articles for COL5A2 gene, integrated from 9 sources (see all 71):
    (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. (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. (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. (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. (1998)
    5. Maternal and fetal genetic associations of PTGER3 and PON1 with preterm birth. (PubMed id 20140262)1, 4 Ryckman K.K....Jacobsson B. (2010)
    6. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)
    7. A genetic association study of maternal and fetal can didate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (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. (2010)
    9. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    10. Racial disparity in pathophysiologic pathways of pret erm birth based on genetic variants. (PubMed id 19527514)1, 4 Menon R....Thorsen P. (2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1290 HGNC: 2210 AceView: COL5A2 Ensembl:ENSG00000204262 euGenes: HUgn1290
    ECgene: COL5A2 Kegg: 1290 H-InvDB: COL5A2

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL5A2 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL5A2

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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