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

COL5A2 Gene

protein-coding   GIFtS: 60
GCID: GC02M189861

collagen, type V, alpha 2
 Explore 18 diseases affiliated with
COL5A2 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL5A2    

Aliases
for COL5A2 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Collagen, Type V, Alpha 21 2
AB Collagen2
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


Summaries
for COL5A2 gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
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 plasmid: COL5A2 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

Proteins
for COL5A2 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P05997

    • COL5A2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_000384.2  
    ENSEMBL proteins: 
     ENSP00000364000  
    Reactome Protein details: P05997
    Human Recombinant Protein Products: 
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    Browse Proteins at Uscn

    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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    Protein Domains /
    Families
    for COL5A2 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL5A2 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for COL5A2 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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)

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A2
    8/39 QIAGEN miScript miRNA 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 plasmid: COL5A2 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 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:0046332SMAD binding IEA--
    GO:0046872metal ion binding IEA--


    COL5A2 for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Col5a2tm1Rmz for COL5A2
         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


    Pathways & Interactions
    for COL5A2 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/15 super-pathways (see all 15) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    2Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    3Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    4NCAM signaling for neurite out-growth
    		NCAM signaling for neurite out-growth1.00
    		NCAM1 interactions0.62
    5Degradation of the extracellular matrix
    		Degradation of the extracellular matrix1.00
    		Degradation of collagen0.79

    Pathway sources
    See GeneCards unified pathways
    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

    5/15        Reactome Pathways for COL5A2 (see all 15)
        Developmental Biology
    Formation of collagen fibrils
    Secretion of collagens
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures


    4         Kegg Pathways  (Kegg details for COL5A2):
        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)

    5/73 Interacting proteins for COL5A2 (P059973 ENSP000003640004) via UniProtKB, MINT, STRING, and/or I2D (see all 73)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BMP1P134973, ENSP000003057144I2D: score=2 STRING: ENSP00000305714
    DDR1Q083453, ENSP000004060914I2D: score=2 STRING: ENSP00000406091
    COL5A1P209083, ENSP000003608824I2D: score=1 STRING: ENSP00000360882
    COL11A1P121073, ENSP000003511634I2D: score=1 STRING: ENSP00000351163
    PXNP490233I2D: score=1 
    About this table

    Gene Ontology (GO): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development IEA--
    GO:0007411axon guidance TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030199collagen fibril organization ISS--
    GO:0043588skin development ISS--


    COL5A2 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL5A2 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL5A2
    Search CenterWatch for drugs/clinical trials and news about COL5A2 / CO5A2 

    Transcripts
    for COL5A2 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat COL5A2
    8/39 QIAGEN miScript miRNA 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 plasmid: COL5A2 3' UTR sequence
    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    CB111087 AI127162 AI755281 H88165 BM473641 BQ343844 BG370234 BC043613 
    AI754803 AI457114 N68613 T29615 BM990352 BM993801 CB107536 AI357733 
    BQ343900 BE889246 BF197847 BQ343924 BU626142 AI088658 BM679618 BQ716101 

    GeneLoc Exon Structure


    Expression
    for COL5A2 gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GACGATCAAG

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    COL5A2 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    6 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Tendons & LigamentsAxial Tendon PrimordiaEarly Tenocyte CellsTendons & Ligaments
    Tendons & LigamentsAxial Tendons and LigamnetsTenocytesTendons & Ligaments
    Tendons & LigamentsLimb Tendon PrimordiaEarly Tenocyte CellsTendons & Ligaments
    Tendons & LigamentsLimb Tendons and LigamnetsTenocytesTendons & Ligaments
    HeartMyocardiumCardiac FibroblastsEpicardium
    Extraembryonic MesodermExtraembryonic Capillary PlexusExtraembryonic AngioblastsEndothelium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Definitive endoderm-like cells (A scalable, suspensi...)
    Definitive Endoderm (Generation of beta c...)

    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
    Assay Products:     
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    Orthologs
    for COL5A2 gene

    (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 animals.

    Orthologs for COL5A2 gene from 4/13 species (see all 13)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    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
    		 --
    		 85(a)
    		 1 ↔ 1
    		 GL343290.1(1538654-1635305)
    zebrafish
    (Danio rerio)    		 Actinopterygii col5a2a1 collagen, type V, alpha 2a 68.48(n)
    72.04(a)    		   564821  NM_001145782.1  NP_001139254.1 
    honey bee
    (Apis mellifera)    		 Insecta --
    		 --
    		 46(a)
    		 1 → many
    		 GroupUn.493(29585-38789)


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

    Paralogs
    for COL5A2 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL5A2 gene
    COL4A62  COL19A12  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  
    COL16A12  COL4A22  COL5A12  COL4A32  COL22A12  COL7A12  COL1A22  COL27A12  
    COL3A12  COL2A12  COL4A12  COL11A12  
    14 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    COL11A2

    COL5A2 for paralogs           About GeneDecksing



    Genomic Variants
    for COL5A2 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/2409 NCBI SNPs in COL5A2 are shown (see all 2409)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs743820771,2
    		F,--181755714(+) TGCATG/ACCTGA 1 -- ds50011Minor allele frequency- A:0.03WA 118
    rs2011553701,2
    		C--181755792(-) TGATCC/TCCACT 1 -- ds50010--------
    rs1128933791,2
    		--181755912(+) CTCTCG/AGGTTT 1 -- ds50012Minor allele frequency- A:0.04CSA WA 120
    rs1122976621,2
    		--181755937(+) TGGATG/AGATAA 1 -- ds50012Minor allele frequency- A:0.04CSA WA 120
    rs1130852681,2
    		--181756087(+) TGTCTA/TTGGGA 1 -- ds50013Minor allele frequency- T:0.05CSA WA 121
    rs1135135541,2
    		--181756198(+) ATCCAT/AATAAG 1 -- ut311Minor allele frequency- A:0.50CSA 2
    rs778216751,2
    		C,--181756267(+) TATTTC/TTGATT 1 -- ut312Minor allele frequency- T:0.04CSA WA 120
    rs764826601,2
    		--181756369(+) AGATAT/CACAGG 1 -- ut312Minor allele frequency- C:0.04CSA WA 120
    rs750962341,2
    		C,--181756425(+) ATTGAG/AAATGA 1 -- ut312Minor allele frequency- A:0.04CSA WA 120
    rs761510831,2
    		C,--181756660(+) GTATCC/TGTTGT 1 -- ut312Minor allele frequency- T:0.05CSA WA 120

    HapMap Linkage Disequilibrium report for COL5A2 (189896622 - 190044605 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for COL5A2: --
    Human Gene Mutation Database (HGMD): COL5A2

    Locus Specific Mutation Databases (LSDB): COL5A2

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL5A2
    DNA2.0 Custom Variant and Variant Library Synthesis for COL5A2

    Disorders / Diseases
    for COL5A2 gene

    (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.)
    About This Section
    COL5A2 for disorders           About GeneDecksing

    OMIM gene information: 120190   
    OMIM disorders: 130000  
    UniProtKB/Swiss-Prot: CO5A2_HUMAN, P05997
  • Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 1 (EDS1) [MIM:130000]; also known as
    • Ehlers-Danlos syndrome gravis or severe classic type Ehlers-Danlos syndrome. EDS is 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
  • Defects in COL5A2 are a cause of Ehlers-Danlos syndrome type 2 (EDS2) [MIM:130010]; also known as
    • Ehlers-Danlos syndrome mitis or mild classic type Ehlers Danlos syndrome

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

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

    2 Novoseek 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
    Ehlers-Danlos Syndrome, Classic Type

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

    Export disorders for COL5A2 gene to outside databases

    Publications
    for COL5A2 gene

    (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 70):
    (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. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    7. Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients. (PubMed id 14557872)1, 4 McCarthy J.J....Topol E.J. (2003)
    8. Diversity in the processing events at the N-terminus of type-V collagen. (PubMed id 8181482)1, 2 Moradi-Ameli M.... van der Rest M. (1994)
    9. Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. (PubMed id 1571108)1, 2 Mann K. (1992)
    10. Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences. (PubMed id 1820205)1, 2 Greenspan D.S.... Hoffman G.G. (1991)

    External Searches for COL5A2 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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    Genome Databases showing COL5A2 gene

    (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

    Other Databases showing COL5A2 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL5A2 gene

    (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

    Intellectual Property
    for COL5A2 gene

    (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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