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COL4A5 Gene

protein-coding   GIFtS: 64
GCID: GC0XP107683

Collagen, Type IV, Alpha 5

(Previous name: Alport syndrome)
(Previous symbols: ASLN, ATS)
  See COL4A5-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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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Collagen, Type IV, Alpha 51 2     Collagen Alpha-5(IV) Chain2
ASLN1 2 5     Collagen IV, Alpha-5 Polypeptide2
ATS1 2 5     Collagen Of Basement Membrane, Alpha-5 Chain2
Alport Syndrome1     dA149D17.32
CA542     dA24A23.12

External Ids:    HGNC: 22071   Entrez Gene: 12872   Ensembl: ENSG000001881537   OMIM: 3036305   UniProtKB: P294003   
ORGUL members:         

Export aliases for COL4A5 gene to outside databases

Previous GC identifers: GC0XP103090 GC0XP104759 GC0XP105716 GC0XP106455 GC0XP107489 GC0XP097305


(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 COL4A5 Gene:
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement
membranes. Mutations in this gene are associated with X-linked Alport syndrome, also known as hereditary
nephritis. Like the other members of the type IV collagen gene family, this gene is organized in a head-to-head
conformation with another type IV collagen gene so that each gene pair shares a common promoter. Alternatively
spliced transcript variants have been identified for this gene. (provided by RefSeq, Aug 2010)

GeneCards Summary for COL4A5 Gene:
COL4A5 (collagen, type IV, alpha 5) is a protein-coding gene. Diseases associated with COL4A5 include alport syndrome, and col4a5-related nephropathy. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO4A5_HUMAN, P29400
Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen

Gene Wiki entry for COL4A5 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_000023.10  NT_011651.18  NC_018934.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL4A5 gene promoter:
         Nkx3-1   Nkx3-1 v1   NF-AT   NF-AT4   NF-AT2   HOXA5   SEF-1 (1)   NF-AT3   Nkx3-1 v3   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL4A5 promoter sequence
   Search Chromatin IP Primers for COL4A5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL4A5


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

Entrez Gene cytogenetic band: Xq22   Ensembl cytogenetic band:  Xq22.3   HGNC cytogenetic band: Xq22

COL4A5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A5 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XP107683:  view genomic region     (about GC identifiers)

Start:
107,683,074 bp from pter      End:
107,940,775 bp from pter
Size:
257,702 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: CO4A5_HUMAN, P29400 (See protein sequence)
Recommended Name: Collagen alpha-5(IV) chain precursor  
Size: 1685 amino acids; 161044 Da
Subunit: There are six type IV collagen isoforms, alpha 1(IV)-alpha 6(IV), each of which can form a triple helix
structure with 2 other chains to generate type IV collagen network
Secondary accessions: Q16006 Q16126 Q6LD84 Q7Z700 Q9NUB7
Alternative splicing: 2 isoforms:  P29400-1   P29400-2   (Contains 2 extra G-X-X repeats into the triple-helix domain)

Explore the universe of human proteins at neXtProt for COL4A5: NX_P29400

Explore proteomics data for COL4A5 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
  • Type IV collagens contain numerous cysteine residues which are involved in inter- and intramolecular disulfide
    bonding. 12 of these, located in the NC1 domain, are conserved in all known type IV collagens1
  • The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By
    similarity)1
  • Glycosylation2 at Asn125

  • See COL4A5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_000486.1  NP_203699.1  

    ENSEMBL proteins: 
     ENSP00000331902   ENSP00000354505   ENSP00000424137   ENSP00000423520   ENSP00000424845  
    Reactome Protein details: P29400

    COL4A5 Human Recombinant Protein Products:

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

     
    Search eBioscience for Proteins for COL4A5 

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    Abcam antibodies for COL4A5 (Q01955, P08572, P02462, P29400, P53420)
    Browse Antibodies at Cloud-Clone Corp.
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    LSBio Antibodies in human, mouse, rat for COL4A5

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    Browse ELISAs at Cloud-Clone Corp.
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    Search eBioscience for ELISAs for COL4A5 


    (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:
     IPR016187 C-type_lectin_fold
     IPR001442 Collagen_VI_NC
     IPR008160 Collagen

    Graphical View of Domain Structure for InterPro Entry P29400

    ProtoNet protein and cluster: P29400

    3 Blocks protein domains:
    IPB001442 Type 4 procollagen
    IPB008160 Collagen triple helix repeat
    IPB008161 Collagen helix repeat


    UniProtKB/Swiss-Prot: CO4A5_HUMAN, P29400
    Domain: Alpha chains of type IV collagen have a non-collagenous domain (NC1) at their C-terminus, frequent
    interruptions of the G-X-Y repeats in the long central triple-helical domain (which may cause flexibility in the
    triple helix), and a short N-terminal triple-helical 7S domain
    Similarity: Belongs to the type IV collagen family
    Similarity: Contains 1 collagen IV NC1 (C-terminal non-collagenous) domain


    Find genes that share domains with COL4A5           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: CO4A5_HUMAN, P29400
    Function: Type IV collagen is the major structural component of glomerular basement membranes (GBM), forming a
    'chicken-wire' meshwork together with laminins, proteoglycans and entactin/nidogen

         Genatlas biochemistry entry for COL4A5:
    collagen type IV,alpha 5,homotrimerizing and heterotrimerizing with COL4A3,COL4A4 kidney restricted,located in
    glomerular basement membrane,Bowman capsule,distal tubules,expressed in the dermoepidermal junction during fetal
    skin development

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
         
    Find genes that share ontologies with COL4A5           About GenesLikeMe


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col4a5):
     cardiovascular system  homeostasis/metabolism  immune system  mortality/aging  renal/urinary system 

    Find genes that share phenotypes with COL4A5           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COL4A5
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COL4A5

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COL4A5
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    miRNA
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    miRTarBase miRNAs that target COL4A5:
    hsa-mir-26b-5p (MIRT030043), hsa-mir-335-5p (MIRT018772)

    Block miRNA regulation of human, mouse, rat COL4A5 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate COL4A5 (see all 31):
    hsa-miR-100* hsa-miR-199b-3p hsa-let-7d hsa-miR-199a-3p hsa-miR-509-5p hsa-miR-202 hsa-miR-3129-5p hsa-miR-29c
    SwitchGear 3'UTR luciferase reporter plasmidCOL4A5 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COL4A5

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): COL4A5 (NM_033380)
    Browse Sino Biological Human cDNA Clones
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    eBioscience FlowRNA Probe Sets ( VA6-13342) for COL4A5 


    (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
    CO4A5_HUMAN, P29400: Secreted, extracellular space, extracellular matrix, basement membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    plasma membrane2
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005587collagen type IV IEA--
    GO:0005604basement membrane ----
    GO:0005605basal lamina IEA--

    Find genes that share ontologies with COL4A5           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 COL4A5 About   (see all 20)  
    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
    2Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    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
    5Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31


    Find genes that share SuperPaths with COL4A5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL4A5 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A5
        Cell adhesion Endothelial cell contacts by non-junctional mechanisms
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion Integrin-mediated cell adhesion and migration
    Cell adhesion ECM remodeling
    Cell adhesion Plasmin signaling

    Selected Reactome Pathways for COL4A5 (see all 11)
        Laminin interactions
    Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    Collagen degradation

    1 PharmGKB Pathway for COL4A5
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for COL4A5) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL4A5
    Interactions:

        GeneGlobe Interaction Network for COL4A5

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

    Selected Interacting proteins for COL4A5 (P294002, 3 ENSP000003319024) via UniProtKB, MINT, STRING, and/or I2D (see all 94)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMN1Q166372, 3MINT-8270981 I2D: score=2 
    SMN2Q166372, 3MINT-8270981 I2D: score=2 
    ANXA7P200732, 3MINT-8248164 I2D: score=2 
    CDKN1AP389362, 3MINT-8251707 I2D: score=2 
    DAZAP2Q150382, 3MINT-8254001 I2D: score=2 
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0007528neuromuscular junction development IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--

    Find genes that share ontologies with COL4A5           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 COL4A5 (CO4A5)

    5 Novoseek inferred chemical compound relationships for COL4A5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    mspi 40.2 2 1376965 (1), 1363780 (1)
    arginine 13.2 3 7706490 (1), 8893151 (1), 1376965 (1)
    valine 12.8 2 7706490 (1), 15100740 (1)
    serine 0 1 7969679 (1)
    cysteine 0 1 7706490 (1)



    Find genes that share compounds with COL4A5           About GenesLikeMe



    (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 COL4A5 gene (3 alternative transcripts): 
    NM_000495.4  NM_033380.2  NM_033381.1  

    Unigene Cluster for COL4A5:

    Collagen, type IV, alpha 5
    Hs.369089  [show with all ESTs]
    Unigene Representative Sequence: NM_033380
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000477429 ENST00000328300(uc022ccg.1) ENST00000361603(uc004enz.1)
    ENST00000470339 ENST00000483338(uc004eob.1) ENST00000505728 ENST00000489230
    ENST00000510690 ENST00000515658 ENST00000504541
    miRNA
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    hsa-miR-100* hsa-miR-199b-3p hsa-let-7d hsa-miR-199a-3p hsa-miR-509-5p hsa-miR-202 hsa-miR-3129-5p hsa-miR-29c
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    Primer
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    Additional mRNA sequence: 

    AK294066.1 AK307900.1 AK311302.1 BC035387.1 BC151846.1 M31115.1 M58526.1 M90464.1 

    11 DOTS entries:

    DT.113934  DT.102831041  DT.91740296  DT.95099872  DT.95365111  DT.121316562  DT.97782658  DT.102831043 
    DT.97837687  DT.102844952  DT.75102921 

    Selected AceView cDNA sequences (see all 97):

    CR618621 BQ883937 AV728760 AI581340 NM_033380 AI804559 AI431877 BU688391 
    BM721457 M90464 AI312904 AW263708 BU688037 CD676914 AI337995 BE877326 
    AI095703 AI828963 NM_033381 T29644 N52364 CA390814 CN478447 BI491030 

    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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    COL4A5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL4A5 Expression
    About this image


    COL4A5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 11) fully expand
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
             Lens
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
    COL4A5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL4A5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.369089

    UniProtKB/Swiss-Prot: CO4A5_HUMAN, P29400
    Tissue specificity: Isoform 2 is found in kidney

        Custom PCR Arrays for COL4A5
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A5

    (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 COL4A5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a51 , 5 collagen, type IV, alpha 51, 5 88.78(n)1
    90.74(a)1
      X (62.16 cM)5
    128301  NM_007736.41  NP_031762.21 
     1414753855 
    chicken
    (Gallus gallus)
    Aves COL4A56
    collagen, type IV, alpha 5
    64(a)
    1 ↔ 1
    4(13861296-13934946)
    lizard
    (Anolis carolinensis)
    Reptilia COL4A56
    collagen, type IV, alpha 5
    75(a)
    1 ↔ 1
    GL343202.1(4181089-4273662)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.237132 Xenopus laevis transcribed sequence with weak similarity more 78.48(n)    BX844974.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col4a56
    collagen, type IV, alpha 5 (Alport syndrome)
    66(a)
    1 ↔ 1
    7(52558412-52649610) ENSDARG00000052063
    fruit fly
    (Drosophila melanogaster)
    Insecta vkg6
    viking
    38(a)
    1 → many
    2L(5012144-5028191)
    worm
    (Caenorhabditis elegans)
    Secernentea let-23 alpha-2 type IV collagen 66(a)
    (best of 2)
      X(16411823-16420128)   --


    ENSEMBL Gene Tree for COL4A5 (if available)
    TreeFam Gene Tree for COL4A5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COL4A5 gene
    COL4A62  COL11A22  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL27A12  COL2A12  COL3A12  COL4A12  
    COL11A12  
    11 SIMAP similar genes for COL4A5 using alignment to 7 protein entries:     CO4A5_HUMAN (see all proteins):
    COL4A1    C1QC    COL4A3    COL4A6    COL4A4    COL8A2
    COL4A2    DKFZp434L081    C1QTNF9    C1QTNF9B    MARCO

    Find genes that share paralogs with COL4A5           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 COL4A5 (see all 3959)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048861641,2,,4
    CAlport syndrome, X-linked (APSX)4 pathogenic1107817897(+) GCCCTC/G/TCTGGG 4 P S mis10--------
    rs789727351,2,,4
    CAlport syndrome, X-linked (APSX)4 pathogenic1107837631(+) TCCTGG/TACCAA 4 G V mis11Minor allele frequency- T:0.00NA 4512
    VAR_0112294
    Alport syndrome, X-linked (APSX)4--see VAR_0112292 G R mis40--------
    VAR_0112404
    Alport syndrome, X-linked (APSX)4--see VAR_0112402 G E mis40--------
    VAR_0079954
    Alport syndrome, X-linked (APSX)4--see VAR_0079952 G V mis40--------
    VAR_0019714
    Alport syndrome, X-linked (APSX)4--see VAR_0019712 C S mis40--------
    VAR_0112684
    Alport syndrome, X-linked (APSX)4--see VAR_0112682 G S mis40--------
    VAR_0019204
    Alport syndrome, X-linked (APSX)4--see VAR_0019202 G S mis40--------
    VAR_0080154
    Alport syndrome, X-linked (APSX)4--see VAR_0080152 G A mis40--------
    VAR_0112794
    Alport syndrome, X-linked (APSX)4--see VAR_0112792 G C mis40--------

    HapMap Linkage Disequilibrium report for COL4A5 (107683074 - 107933074 bp, first 250kb of COL4A5)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for COL4A5:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv7031CNV Insertion18451855
    nsv519041CNV Gain19592680

    Human Gene Mutation Database (HGMD): COL4A5
    Locus Specific Mutation Databases (LSDB): COL4A5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL4A5
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A5

    (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: 303630   
    OMIM disorders: 301050  
    UniProtKB/Swiss-Prot: CO4A5_HUMAN, P29400
  • Alport syndrome, X-linked (APSX) [MIM:301050]: A syndrome that is characterized by progressive
    glomerulonephritis, renal failure, sensorineural deafness, specific eye abnormalities (lenticonous and macular
    flecks), and glomerular basement membrane defects. The disorder shows considerable heterogeneity in that families
    differ in the age of end-stage renal disease and the occurrence of deafness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Note=Deletions covering the N-terminal regions of COL4A5 and COL4A6, which are localized in a
    head-to-head manner, are found in the chromosome Xq22.3 centromeric deletion syndrome. This results in a
    phenotype with features of diffuse leiomyomatosis and Alport syndrome (DL-ATS)

  • 12 diseases for COL4A5:    
    About MalaCards
    alport syndrome    col4a5-related nephropathy    x-linked diffuse leiomyomatosis - alport syndrome    malignant cylindroma
    alport syndrome and thin basement membrane nephropathy    nephritis    retinitis pigmentosa 27    alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis
    leiomyomatosis    thin basement membrane nephropathy    exostosis    pendred syndrome

    6 diseases from the University of Copenhagen DISEASES database for COL4A5:
    Alport syndrome     Sensorineural hearing loss     Leiomyoma     Kidney failure
    Nephritis     Proteinuria

    Find genes that share disorders with COL4A5           About GenesLikeMe

    Selected Novoseek inferred disease relationships for COL4A5 gene (see all 24)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alports syndrome 98.7 162 10862091 (3), 8406498 (3), 8599366 (3), 12796257 (3) (see all 99)
    alport syndrome, x-linked 98.7 77 16517570 (3), 15780079 (3), 19937058 (2), 11961405 (2) (see all 51)
    alport syndrome, autosomal recessive 91.2 1 15954103 (1)
    lenticonus 89.8 7 12796257 (3), 19965530 (1)
    hematuria benign familial 89.6 5 19937058 (3), 17396119 (1)
    leiomyomatosis 88.3 17 16114791 (2), 7833948 (2), 9562604 (1), 8599366 (1) (see all 14)
    deafness sensorineural 73.5 1 17277342 (1)
    nephritis 73.5 11 7993995 (3), 2349482 (1), 8662866 (1), 14531812 (1) (see all 7)
    renal disease 69.9 16 11798584 (3), 11798821 (2), 11773466 (2), 1330889 (1) (see all 12)
    renal failure 63.7 6 19965530 (2), 7706490 (1), 8738805 (1), 8238007 (1) (see all 5)

    GeneTests: COL4A5
    GeneReviews: COL4A5
    Genetic Association Database (GAD): COL4A5
    Human Genome Epidemiology (HuGE) Navigator: COL4A5 (10 documents)

    Export disorders for COL4A5 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 COL4A5 gene, integrated from 10 sources (see all 245):
    (articles sorted by number of sources associating them with COL4A5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Differential splicing of COL4A5 mRNA in kidney and white blood cells: a complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain. (PubMed id 8301933)1, 2, 9 Guo C.... Marynen P. (Kidney Int. 1993)
    2. Identification of four novel mutations in the COL4A5 gene of patients with Alport syndrome. (PubMed id 8406498)1, 2, 9 Lemmink H.L.... Smeets H.J.M. (Genomics 1993)
    3. Detection of mutations in the COL4A5 gene in over 90% of male patients with X-linked Alport's syndrome by RT-PCR and direct sequencing. (PubMed id 10561141)1, 2, 9 Inoue Y.... Yoshikawa N. (Am. J. Kidney Dis. 1999)
    4. X-linked Alport syndrome: an SSCP-based mutation survey over all 51 exons of the COL4A5 gene. (PubMed id 8651296)1, 2, 9 Renieri A.... de Marchi M. (Am. J. Hum. Genet. 1996)
    5. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. (PubMed id 10862091)1, 2, 9 Martin P.... Tryggvason K. (Hum. Mutat. 2000)
    6. Efficient detection of Alport syndrome COL4A5 mutations with multiplex genomic PCR-SSCP. (PubMed id 11223851)1, 2, 9 Barker D.F.... Gregory M.C. (Am. J. Med. Genet. 2001)
    7. Mutational analysis of COL4A5 gene in Korean Alport syndrome. (PubMed id 10684360)1, 2, 9 Cheong H.I.... Choi Y. (Pediatr. Nephrol. 2000)
    8. Detection of mutations in COL4A5 in patients with Alport syndrome. (PubMed id 10094548)1, 2, 9 Plant K.E.... Flinter F.A. (Hum. Mutat. 1999)
    9. Phenotypic and genotypic features of Alport syndrome in Chinese children. (PubMed id 12478350)1, 4, 9 Wang F....Yang J. (Pediatr. Nephrol. 2002)
    10. Dot-and-fleck retinopathy in Alport syndrome caused by a novel mutation in the COL4A5 gene. (PubMed id 11004279)1, 2, 9 Blasi M.A.... Grammatico P. (Am. J. Ophthalmol. 2000)

    (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: 1287 HGNC: 2207 AceView: COL4A5 Ensembl:ENSG00000188153 euGenes: HUgn1287
    ECgene: COL4A5 Kegg: 1287 H-InvDB: COL4A5

    (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 COL4A5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL4A5[genesymbol]
    Alport syndrome and COL4A5http://www.arup.utah.edu/database/ALPORT/ALPORT_welcome.php

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL4A5 gene:
    Search GeneIP for patents involving COL4A5

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



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