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COL5A3 Gene

protein-coding   GIFtS: 54
GCID: GC19M010071

Collagen, Type V, Alpha 3

  See COL5A3-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 31 2
Collagen Alpha-3(V) Chain2
Pro-(Alpha)3(V) Collagen2

External Ids:    HGNC: 148641   Entrez Gene: 505092   Ensembl: ENSG000000805737   OMIM: 1202165   UniProtKB: P259403   

Export aliases for COL5A3 gene to outside databases

Previous GC identifers: GC19M010191 GC19M010293 GC19M009916 GC19M009931 GC19M009650


(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 COL5A3 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 thought to be responsible for the symptoms of a subset of patients with Ehlers-Danlos syndrome type
III. Messages of several sizes can be detected in northern blots but sequence information cannot confirm the
identity of the shorter messages. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL5A3 Gene:
COL5A3 (collagen, type V, alpha 3) is a protein-coding gene. Diseases associated with COL5A3 include arterial tortuosity syndrome, and pulmonary valve stenosis. GO annotations related to this gene include heparin binding and collagen binding. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940
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

Gene Wiki entry for COL5A3 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_000019.9  NC_018930.2  NT_011295.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL5A3 gene promoter:
         Bach1   AML1a   Sp1   Bach2   NRSF form 1   NRSF form 2   HEN1   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL5A3 promoter sequence
   Search Chromatin IP Primers for COL5A3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL5A3


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

Entrez Gene cytogenetic band: 19p13.2   Ensembl cytogenetic band:  19p13.2   HGNC cytogenetic band: 19p13.2

COL5A3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL5A3 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M010071:  view genomic region     (about GC identifiers)

Start:
10,070,237 bp from pter      End:
10,121,147 bp from pter
Size:
50,911 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., 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: CO5A3_HUMAN, P25940 (See protein sequence)
Recommended Name: Collagen alpha-3(V) chain precursor  
Size: 1745 amino acids; 172121 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
Secondary accessions: Q9NZQ6

Explore the universe of human proteins at neXtProt for COL5A3: NX_P25940

Explore proteomics data for COL5A3 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 Asn102, Asn141
  • Modification sites at PhosphoSitePlus

  • See COL5A3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_056534.2  
    ENSEMBL proteins: 
     ENSP00000264828  
    Reactome Protein details: P25940

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

     
    Search eBioscience for Proteins for COL5A3 

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    LSBio Antibodies in human, mouse, rat for COL5A3

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    Search eBioscience for ELISAs for COL5A3 


    (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

    5 InterPro protein domains:
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR000885 Fib_collagen_C
     IPR008160 Collagen
     IPR008985 ConA-like_lec_gl_sf

    Graphical View of Domain Structure for InterPro Entry P25940

    ProtoNet protein and cluster: P25940

    5 Blocks protein domains:
    IPB000885 Fibrillar collagen
    IPB001791 Laminin G
    IPB003129 Thrombospondin
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO5A3_HUMAN, P25940
    Similarity: Belongs to the fibrillar collagen family
    Similarity: Contains 6 collagen-like domains
    Similarity: Contains 1 fibrillar collagen NC1 domain
    Similarity: Contains 1 laminin G-like domain


    Find genes that share domains with COL5A3           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: CO5A3_HUMAN, P25940
    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

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent NAS10722718
    GO:0005518collagen binding NAS10722718
    GO:0008201heparin binding IEA--
    GO:0043394proteoglycan binding IEA--
         
    Find genes that share ontologies with COL5A3           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for COL5A3:
     Increased gamma-H2AX phosphory  Synthetic lethal with Ras  Synthetic lethal with c-Myc af 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col5a3):
     adipose tissue  behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body 
     homeostasis/metabolism  integument  muscle 

    Find genes that share phenotypes with COL5A3           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Col5a3tm1Dgr for COL5A3

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL5A3
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL5A3

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    miRNA
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    miRTarBase miRNAs that target COL5A3:
    hsa-mir-204-5p (MIRT005822), hsa-mir-29b-3p (MIRT000098)

    Block miRNA regulation of human, mouse, rat COL5A3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL5A3 (see all 24):
    hsa-miR-642a hsa-miR-520f hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-216b hsa-miR-3921 hsa-miR-20b*
    SwitchGear 3'UTR luciferase reporter plasmidCOL5A3 3' UTR sequence
    Inhib. RNA
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    (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
    CO5A3_HUMAN, P25940: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane3
    golgi apparatus1
    lysosome1

    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 NAS10722718
    GO:0005788endoplasmic reticulum lumen TAS--
    GO:0031012extracellular matrix ----

    Find genes that share ontologies with COL5A3           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 COL5A3 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 COL5A3           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL5A3 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 BioSystems Pathway for COL5A3
        Focal Adhesion

    Selected Reactome Pathways for COL5A3 (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 COL5A3):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Pathway & Disease-focused RT2 Profiler PCR Array including COL5A3: 
              Wound Healing in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for COL5A3

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

    Selected Interacting proteins for COL5A3 (P259403 ENSP000002648284) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL5A1P209083, ENSP000003608824I2D: score=2 STRING: ENSP00000360882
    COL1A2P081233, ENSP000002972684I2D: score=1 STRING: ENSP00000297268
    COL10A1ENSP000002432224STRING: ENSP00000243222
    COL11A1ENSP000003511634STRING: ENSP00000351163
    COL12A1ENSP000003251464STRING: ENSP00000325146
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007160cell-matrix adhesion IEA--
    GO:0007411axon guidance TAS--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization NAS10722718

    Find genes that share ontologies with COL5A3           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 COL5A3 (CO5A3)



    (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 COL5A3 gene: 
    NM_015719.3  

    Unigene Cluster for COL5A3:

    Collagen, type V, alpha 3
    Hs.235368  [show with all ESTs]
    Unigene Representative Sequence: AF177941
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264828(uc002mmq.1) ENST00000461214
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate COL5A3 (see all 24):
    hsa-miR-642a hsa-miR-520f hsa-miR-767-5p hsa-miR-29c hsa-miR-29a hsa-miR-216b hsa-miR-3921 hsa-miR-20b*
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      QuantiFast Probe-based Assays in human, mouse, rat COL5A3

    Additional mRNA sequence: 

    AB209175.1 AF177941.1 

    4 DOTS entries:

    DT.111540  DT.121444410  DT.99957391  DT.99938632 

    Selected AceView cDNA sequences (see all 72):

    AA887620 BE042923 BQ575544 CR623259 AI906061 R49984 AA359428 BQ015205 
    BQ006907 BI828870 AW841530 CA415802 BE219883 NM_015719 BE327304 CB054372 
    BE677262 BQ448429 BM704665 BQ878345 BE048302 BM668467 BM684992 AW015044 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for COL5A3    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44 ^ 45 ^ 46 ^ 47 ^ 48 ^ 49 ^ 50 ^ 51 ^ 52 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            

    ExUns: 53 ^ 54 ^ 55 ^ 56 ^ 57 ^ 58a · 58b ^ 59 ^ 60 ^ 61a · 61b ^ 62 ^ 63 ^ 64 ^ 65 ^ 66 ^ 67
    SP1:                                -                             -                                       
    SP2:                                                                                                      


    ECgene alternative splicing isoforms for COL5A3

    (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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    COL5A3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCAGGTGGTT
    COL5A3 Expression
    About this image


    COL5A3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
     
     Bone (Muscoskeletal System)
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Mesenchymal Stem Cells
             Notch-transfected mesenchymal stromal cells (SB623)
     
     Cartilage (Muscoskeletal System)
             Chondrocranium
     
     Eye (Sensory Organs)
             Mature Rod Cells Outer Nuclear Layer
    COL5A3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL5A3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.235368
        Pathway & Disease-focused RT2 Profiler PCR Array including COL5A3: 
              Wound Healing in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL5A3

    (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 chordates.

    Orthologs for COL5A3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col5a31 , 5 collagen, type V, alpha 31, 5 80.77(n)1
    82.56(a)1
      9 (7.63 cM)5
    538671  NM_016919.21  NP_058615.11 
     207700505 
    lizard
    (Anolis carolinensis)
    Reptilia COL5A36
    collagen, type V, alpha 3
    71(a)
    1 ↔ 1
    GL343198.1(5442068-5503809)
    zebrafish
    (Danio rerio)
    Actinopterygii col5a3a6
    col5a3b6
    collagen, type V, alpha 3b
    60(a)
    56(a)
    many → 1
    many → 1
    3(54697355-54769855) ENSDARG00000017360
    1(60230505-60263365) ENSDARG00000028524


    ENSEMBL Gene Tree for COL5A3 (if available)
    TreeFam Gene Tree for COL5A3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL5A3 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL4A42  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    13 SIMAP similar genes for COL5A3 using alignment to 1 protein entry:     CO5A3_HUMAN:
    COL11A1    COL5A1    COL11A2    COL2A1    SFTPD    FCN2
    COL5A2    COLQ    DKFZp434L081    MARCO    C1QTNF9    C1QTNF9B
    COL1A2

    Find genes that share paralogs with COL5A3           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 COL5A3 (see all 1786)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1416505341,2
    Cuntested110079145(+) CCAATA/GAGACC 2 L syn10--------
    rs58270811,2
    C--10056022(+) GTGGT-/T/TG  
            
    GTGTG
    1 -- int11NA 2
    rs1400108441,2
    --10069789(+) CACTCA/GAGTCC 1 -- ds50010--------
    rs81081471,2
    C,F,A--10069821(+) gccatT/Gatcat 1 -- ds500111Minor allele frequency- G:0.44NA WA CSA EA 373
    rs598437161,2
    F--10069930(+) TTTGGA/GAGATC 1 -- ds50010--------
    rs1119789681,2
    C,F--10069934(+) GGAGAT/CCAAGG 1 -- ds50013Minor allele frequency- C:0.17WA CSA EA 124
    rs1463283701,2
    --10069940(+) CAAGGC/TGGGCG 1 -- ds50010--------
    rs1179825011,2
    C,F--10069999(+) ATCCCA/GTCTCT 1 -- ds50011Minor allele frequency- G:0.06NA 120
    rs1863102361,2
    --10070148(+) CTGGGC/TGACAG 1 -- ds50010--------
    rs735029691,2
    C,F--10070204(+) ACAAAC/AAAATT 1 -- ds50011Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for COL5A3 (10070237 - 10121147 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for COL5A3 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2667691CNV Deletion23128226
    esv2659051CNV Deletion23128226
    esv2406867CNV Deletion18987734
    esv2718164CNV Deletion23290073
    esv2718163CNV Deletion23290073
    esv1756302CNV Deletion17803354
    esv2718167CNV Deletion23290073
    esv2718165CNV Deletion23290073
    esv2718166CNV Deletion23290073
    esv1205344CNV Deletion17803354

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL5A3
    DNA2.0 Custom Variant and Variant Library Synthesis for COL5A3

    (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: 120216    OMIM disorders: --

    2 diseases for COL5A3:    
    About MalaCards
    arterial tortuosity syndrome    pulmonary valve stenosis

    3 diseases from the University of Copenhagen DISEASES database for COL5A3:
    Arterial tortuosity syndrome     Ehlers-Danlos syndrome     Pulmonary valve stenosis

    Find genes that share disorders with COL5A3           About GenesLikeMe


    Export disorders for COL5A3 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 COL5A3 gene, integrated from 10 sources (see all 16):
    (articles sorted by number of sources associating them with COL5A3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The pro-alpha3 (V) collagen chain. Complete primary structure, expression domains in adult and developing tissues, and comparison to the structures and expression domains of the other types V and XI procollagen chains. (PubMed id 10722718)1, 2, 3 Imamura Y.... Greenspan D.S. (J. Biol. Chem. 2000)
    2. Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. (PubMed id 1571108)1, 2 Mann K. (Biol. Chem. Hoppe-Seyler 1992)
    3. Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry. (PubMed id 19159218)2 Chen R.... Zou H. (J. Proteome Res. 2009)
    4. Absence of apparent disease causing mutations in COL5A3 in 13 patients with hypermobility Ehlers-Danlos syndrome. (PubMed id 19012342)1 Hoffman G.G....Greenspan D.S. (Am. J. Med. Genet. A 2008)
    5. The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)2 Grimwood J.... Lucas S.M. (Nature 2004)
    6. The transcription factor CCAAT-binding factor CBF/NF-Y and two repressors regulate the core promoter of the human pro-alpha3(V) collagen gene (COL5A3). (PubMed id 15316020)1 Nagato H....Yoshioka H. (J. Biol. Chem. 2004)
    7. Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer. (PubMed id 15136578)1 Gopalakrishnan B....Greenspan D.S. (J. Biol. Chem. 2004)
    8. Control of heterotypic fibril formation by collagen V is determined by chain stoichiometry. (PubMed id 11423559)1 Chanut-Delalande H....Ruggiero F. (J. Biol. Chem. 2001)
    9. Basic fibroblast growth factor decreases type V/XI collagen expression in cultured bovine aortic smooth muscle cells. (PubMed id 9443080)1 Kypreos K.E. and Sonenshein G.E. (J. Cell. Biochem. 1998)
    10. Another look at collagen V and XI molecules. (PubMed id 8535602)1 Fichard A....Ruggiero F. (Matrix Biol. 1995)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 50509 HGNC: 14864 AceView: COL5A3 Ensembl:ENSG00000080573 euGenes: HUgn50509
    ECgene: COL5A3 Kegg: 50509 H-InvDB: COL5A3

    (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 COL5A3 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 COL5A3 gene:
    Search GeneIP for patents involving COL5A3

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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