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

COL4A5 Gene

protein-coding   GIFtS: 63
GCID: GC0XP107683

Collagen, Type IV, Alpha 5

(Previous name: Alport syndrome)
(Previous symbols: ASLN, ATS)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Collagen, Type 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   

Export aliases for COL4A5 gene to outside databases

Previous GC identifers: GC0XP103090 GC0XP104759 GC0XP105716 GC0XP106455 GC0XP107489 GC0XP097305


(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 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 alport syndrome, and among its related super-pathways are Collagen biosynthesis and modifying enzymes and ECM-receptor interaction. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NT_011651.17  NC_018934.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for COL4A5

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

UniProtKB/Swiss-Prot: 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
Subcellular location: Secreted, extracellular space, extracellular matrix, basement membrane
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:

  • UniProtKB: Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the
    chains
  • UniProtKB: 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 collagens
  • UniProtKB: The trimeric structure of the NC1 domains is stabilized by covalent bonds between Lys and Met residues (By
    similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P29400

  • COL4A5 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A5 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_000486.1  NP_203699.1  

    ENSEMBL proteins: 
     ENSP00000331902   ENSP00000354505   ENSP00000424137   ENSP00000423520   ENSP00000424845  
    Reactome Protein details: P29400
    Human Recombinant Protein Products for COL4A5: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (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--

    COL4A5 for ontologies           About GeneDecksing



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

    3 InterPro protein domains:
     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


    COL4A5 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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 (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IEA--
         
    COL4A5 for ontologies           About GeneDecksing


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

    COL4A5 for phenotypes           About GeneDecksing

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    SwitchGear 3'UTR luciferase reporter plasmidCOL4A5 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for COL4A5 About   (see all 22)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.74
    Intrinsic Prothrombin Activation Pathway0.40
    Collagen formation0.74
    Extracellular matrix organization0.39
    Assembly of collagen fibrils and other multimeric structures0.65
    Blood Coagulation Cascade0.39
    2Non-integrin membrane-ECM interactions
    Non-integrin membrane-ECM interactions0.44
    ECM proteoglycans0.38
    ECM-receptor interaction0.42
    Integrin cell surface interactions0.32
    3Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    4Integrin Pathway
    Integrin Pathway0.67
    UPA-UPAR Pathway0.56
    FAK1 Signaling0.67
    Inhibition of Angiogenesis by TSP10.50
    GnRH Signaling0.56
    Transendothelial Migration of Leukocytes0.38
    5Rho Family GTPases
    Rho Family GTPases0.61
    Molecular Mechanisms of Cancer0.51
    ERK Signaling0.61
    ILK Signaling0.49
    MAPK Signaling0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for COL4A5 (see all 6)
        Cell adhesion Integrin-mediated cell adhesion and migration
    Cytoskeleton remodeling Integrin outside-in signaling
    Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation
    Cell adhesion Plasmin signaling

    5/15 Downloadable PowerPoint Slides of QIAGEN 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

    5/16        Reactome Pathways for COL4A5 (see all 16)
        Developmental Biology
    Integrin cell surface interactions
    NCAM1 interactions
    Assembly of collagen fibrils and other multimeric structures
    NCAM signaling for neurite out-growth

    1 PharmGKB Pathway for COL4A5
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for COL4A5) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A5 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for COL4A5

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

    5/88 Interacting proteins for COL4A5 (P294002, 3 ENSP000003319024) via UniProtKB, MINT, STRING, and/or I2D (see all 88)
    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 (GO ID links to tree view):    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--

    COL4A5 for ontologies           About GeneDecksing



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

    COL4A5 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about COL4A5 / CO4A5

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for 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

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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 

    24/97 AceView cDNA sequences (see all 97):

    BE877326 AV728760 AI655075 NM_033380 BI491030 AI095703 CN478447 M90464 
    BM721457 NM_000495 AW263708 N52364 AI581340 BQ883937 AI312904 T29644 
    NM_033381 BU688037 CR618621 AI804559 CA390814 AI431877 BU688391 BI753672 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    COL4A5 expression in normal human tissues (normalized intensities)      COL4A5 embryonic expression: see
    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 
     5/17 selected tissues (see all 17) fully expand
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Decidua-derived mesenchymal cells
             Placenta Pericyte   
     
     Mesenchymal Stem Cells (Muscoskeletal System)    fully expand to see all 2 entries
             Decidua-derived mesenchymal cells
             Human Mesenchymal Stem Cell-hepatic (HMSC-he)   
     
     Uncategorized (Uncategorized)    fully expand to see all 2 entries
             PureStem Progenitor W10
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See COL4A5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A5

    SOURCE GeneReport for Unigene cluster: Hs.369089

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

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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for COL4A5 gene from 7/16 species (see all 16)    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 89.52(n)1
    91.28(a)1
      X (62.16 cM)5
    128301  NM_001163155.11  NP_001156627.11 
     1414753855 
    chicken
    (Gallus gallus)
    Aves COL4A51 collagen, type IV, alpha 5 74.5(n)
    79.49(a)
      422348  XM_420320.3  XP_420320.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A56
    Uncharacterized protein
    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 col4a51 collagen, type IV, alpha 5 (Alport syndrome) 64.74(n)
    66.63(a)
      323561  NM_001123230.1  NP_001116702.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C1 Collagen type IV 50.53(n)
    50.58(a)
      33727  NM_164615.1  NP_723044.1 
    worm
    (Caenorhabditis elegans)
    Secernentea let-21 , 3 alpha-2 type IV collagen3
    Protein LET-21
    66(a)
    (best of 2)3
    55.31(n)1
    56.79(a)1
      X(16411823-16420128)3
    1817081  NM_078263.21  NP_510664.11 


    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)
    About This Section
    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 6 protein entries:     CO4A5_HUMAN (see all proteins):
    COL4A1    C1QC    COL4A3    COL4A6    COL4A4    COL8A2
    COL4A2    DKFZp434L081    C1QTNF9    C1QTNF9B    MARCO

    COL4A5 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3959 SNPs in COL4A5 are shown (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
    ----------
    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--------
    VAR_0112724
    Alport syndrome, X-linked (APSX)4--see VAR_0112722 G R mis40--------
    VAR_0080094
    Alport syndrome, X-linked (APSX)4--see VAR_0080092 G R 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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)

  • 20/32 diseases for COL4A5 (see all 32):    About MalaCards
    alport syndrome    col4a5 alport syndrome    leiomyomatosis, esophageal and vulval, with nephropathy    nephritis
    malignant cylindroma    thin basement membrane nephropathy    alport syndrome and thin basement membrane nephropathy    collagen iv-related nephropathies
    x-linked nonsyndromic deafness    leiomyomatosis    goodpasture syndrome    exostosis
    pendred syndrome    nonsyndromic deafness    smooth muscle tumor    end stage renal failure
    pancreatic diseases    leiomyoma    cataract    sensorineural hearing loss

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

    COL4A5 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/24 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)
    About This Section

    PubMed articles for COL4A5 gene, integrated from 9 sources (see all 244):
    (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. (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. (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. (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. (1996)
    5. Spectrum of COL4A5 mutations in Finnish Alport syndrome patients. (PubMed id 10862091)1, 2, 9 Martin P.... Tryggvason K. (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. (2001)
    7. Mutational analysis of COL4A5 gene in Korean Alport syndrome. (PubMed id 10684360)1, 2, 9 Cheong H.I.... Choi Y. (2000)
    8. Detection of mutations in COL4A5 in patients with Alport syndrome. (PubMed id 10094548)1, 2, 9 Plant K.E.... Flinter F.A. (1999)
    9. Phenotypic and genotypic features of Alport syndrome in Chinese children. (PubMed id 12478350)1, 4, 9 Wang F....Yang J. (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. (2000)

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

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

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1287 HGNC: 2207 AceView: COL4A5 Ensembl:ENSG00000188153 euGenes: HUgn1287
    ECgene: COL4A5 Kegg: 1287 H-InvDB: COL4A5

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL4A5 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COL4A5
    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.)
    About This Section
    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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