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COL4A4 Gene

protein-coding   GIFtS: 63
GCID: GC02M227867

Collagen, Type IV, Alpha 4

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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)
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Aliases
Collagen, Type IV, Alpha 41 2     Collagen Alpha-4(IV) Chain2
Alpha-4 Chain1     Collagen IV, Alpha-4 Polypeptide2
Collagen Of Basement Membrane1     Collagen Of Basement Membrane, Alpha-4 Chain2
CA442     

External Ids:    HGNC: 22061   Entrez Gene: 12862   Ensembl: ENSG000000810527   OMIM: 1201315   UniProtKB: P534203   

Export aliases for COL4A4 gene to outside databases

Previous GC identifers: GC02M225892 GC02M226590 GC02M227833 GC02M228072 GC02M227695 GC02M227578 GC02M219710


(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 COL4A4 Gene:
This gene encodes one of the six subunits of type IV collagen, the major structural component of basement
membranes. This particular collagen IV subunit, however, is only found in a subset of basement membranes. 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. Mutations in this gene are
associated with type II autosomal recessive Alport syndrome (hereditary glomerulonephropathy) and with familial
benign hematuria (thin basement membrane disease). Two transcripts, differing only in their transcription start
sites, have been identified for this gene and, as is common for collagen genes, multiple polyadenylation sites
are found in the 3' UTR. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL4A4 Gene:
COL4A4 (collagen, type IV, alpha 4) is a protein-coding gene. Diseases associated with COL4A4 include autosomal recessive alport syndrome, and col4a4-related nephropathy. GO annotations related to this gene include extracellular matrix structural constituent. An important paralog of this gene is COL4A6.

UniProtKB/Swiss-Prot: CO4A4_HUMAN, P53420
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 COL4A4 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:
NC_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COL4A4 gene promoter:
         ER-alpha   USF1   AML1a   MEF-2   Evi-1   E47   MEF-2A   Zic1   USF-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOL4A4 promoter sequence
   Search Chromatin IP Primers for COL4A4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat COL4A4


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

Entrez Gene cytogenetic band: 2q35-q37   Ensembl cytogenetic band:  2q36.3   HGNC cytogenetic band: 2q35-q37

COL4A4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A4 gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M227867:  view genomic region     (about GC identifiers)

Start:
227,867,427 bp from pter      End:
228,029,275 bp from pter
Size:
161,849 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: CO4A4_HUMAN, P53420 (See protein sequence)
Recommended Name: Collagen alpha-4(IV) chain precursor  
Size: 1690 amino acids; 164038 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. The alpha 3(IV) chain forms a triple helical
protomer with alpha 4(IV) and alpha 5(IV); this triple helical structure dimerizes through NC1-NC1 domain
interactions such that the alpha 3(IV), alpha 4(IV) and alpha 5(IV) chains of one protomer connect with the alpha
5(IV), alpha 4(IV) and alpha 3(IV) chains of the opposite protomer, respectively. Associates with LAMB2 at the
neuromuscular junction and in GBM (By similarity)
Secondary accessions: A8MTZ1 Q53RW9 Q53S42 Q53WR1

Explore the universe of human proteins at neXtProt for COL4A4: NX_P53420

Explore proteomics data for COL4A4 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
  • Ubiquitination2 at Lys1229
  • Glycosylation2 at Asn142, Asn669
  • Modification sites at PhosphoSitePlus

  • See COL4A4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000083.3  
    ENSEMBL proteins: 
     ENSP00000379866   ENSP00000328553  
    Reactome Protein details: P53420

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    (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 P53420

    ProtoNet protein and cluster: P53420

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


    UniProtKB/Swiss-Prot: CO4A4_HUMAN, P53420
    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


    COL4A4 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CO4A4_HUMAN, P53420
    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 COL4A4:
    collagen type IV,alpha 4,glomerular basement membrane,Bowman capsule,distal TBM,neuromuscular
    junction,preferentially expressed early in development,suggesting a potential role in dermoepidermal junction
    (DEJ) formation

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent IMP17942953
         
    COL4A4 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for COL4A4:
     Decreased POU5F1-GFP protein e 

         6 MGI mutant phenotypes (inferred from 1 allele(MGI details for Col4a4):
     digestive/alimentary  growth/size/body  hearing/vestibular/ear  homeostasis/metabolism  mortality/aging 
     renal/urinary system 

    COL4A4 for phenotypes           About GeneDecksing

    Animal Models:
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CO4A4_HUMAN, P53420: Secreted, extracellular space, extracellular matrix, basement membrane (By similarity).
    Note=Colocalizes with COL4A4 and COL4A5 in GBM, tubular basement membrane (TBM) and synaptic basal lamina (BL)
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum4
    mitochondrion2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005587collagen type IV IDA7523402
    GO:0005604basement membrane ----
    GO:0005605basal lamina IDA2211832

    COL4A4 for ontologies           About GeneDecksing


    (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 COL4A4 About   (see all 21)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Collagen biosynthesis and modifying enzymes0.75
    Intrinsic Prothrombin Activation Pathway0.39
    Collagen formation0.75
    Blood Coagulation Cascade0.38
    Assembly of collagen fibrils and other multimeric structures0.62
    2Focal adhesion
    Focal adhesion0.65
    ECM-receptor interaction0.31
    Focal Adhesion0.65
    3Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31
    Cell adhesion ECM remodeling0.31
    4Integrin 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
    5ERK Signaling
    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

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for COL4A4 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A4
        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

    1 BioSystems Pathway for COL4A4
        Focal Adhesion

    Selected Reactome Pathways for COL4A4 (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 COL4A4
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for COL4A4) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A4 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for COL4A4
    Interactions:

        GeneGlobe Interaction Network for COL4A4

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

    Selected Interacting proteins for COL4A4 (P534203 ENSP000003798664) via UniProtKB, MINT, STRING, and/or I2D (see all 89)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CD93Q9NPY33, ENSP000002460064I2D: score=1 STRING: ENSP00000246006
    DCNP075853, ENSP000000527544I2D: score=1 STRING: ENSP00000052754
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    HABP2Q145203, ENSP000002779034I2D: score=1 STRING: ENSP00000277903
    MATN2O003393, ENSP000002548984I2D: score=1 STRING: ENSP00000254898
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007411axon guidance TAS--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--
    GO:0032836glomerular basement membrane development IMP17942953

    COL4A4 for ontologies           About GeneDecksing



    (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 COL4A4 (CO4A4)



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COL4A4 gene: 
    NM_000092.4  

    Unigene Cluster for COL4A4:

    Collagen, type IV, alpha 4
    Hs.591645  [show with all ESTs]
    Unigene Representative Sequence: NM_000092
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000396625(uc021vxr.1 uc021vxs.1) ENST00000329662

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    Additional mRNA sequence: 

    BC065843.1 D17391.1 X81053.1 

    7 DOTS entries:

    DT.210475  DT.40105859  DT.95138853  DT.97795814  DT.75106745  DT.91705678  DT.92026057 

    8 AceView cDNA sequences:

    BM676114 BX094848 BX951197 BX100928 AV749200 AW390527 AI373628 H67349 

    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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    COL4A4 expression in normal human tissues (normalized intensities)      COL4A4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    COL4A4 Expression
    About this image


    COL4A4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Kidney (Urinary System)
             Podocytes Podocyte Layer
     
     Epithelial Cells
             Podocytes Podocyte Layer
     
     Blood (Hematopoietic System)
             Mature B-Cells Peripheral Blood
     
     Lung (Respiratory System)
     
     Testis (Reproductive System)
    COL4A4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COL4A4 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.591645

    UniProtKB/Swiss-Prot: CO4A4_HUMAN, P53420
    Tissue specificity: Alpha 3 and alpha 4 type IV collagens are colocalized and present in kidney, eye, basement
    membranes of lens capsule, cochlea, lung, skeletal muscle, aorta, synaptic fibers, fetal kidney and fetal lung.
    PubMed:8083201 reports similar levels of expression of alpha 3 and alpha 4 type IV collagens in kidney, but
    PubMed:7523402 reports that in kidney levels of alpha 3 type IV collagen are significantly lower than those of
    alpha 4 type IV collagen. Highest levels of expression of alpha 4 type IV collagen are detected in kidney,
    calvaria, neuroretina and cardiac muscle. Lower levels of expression are observed in brain, lung and thymus, and
    no expression is detected in choroid plexus, liver, adrenal, pancreas, ileum or skin

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

    Orthologs for COL4A4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a41 , 5 collagen, type IV, alpha 41, 5 80.81(n)1
    78.58(a)1
      1 (42.20 cM)5
    128291  NM_007735.21  NP_031761.11 
     824525585 
    chicken
    (Gallus gallus)
    Aves COL4A46
    collagen, type IV, alpha 4
    58(a)
    1 ↔ 1
    9(8788722-8851270)
    lizard
    (Anolis carolinensis)
    Reptilia COL4A46
    collagen, type IV, alpha 4
    59(a)
    1 ↔ 1
    3(23583599-23670714)
    zebrafish
    (Danio rerio)
    Actinopterygii col4a46
    collagen, type IV, alpha 4
    47(a)
    1 ↔ 1
    15(35219728-35323241) ENSDARG00000002831


    ENSEMBL Gene Tree for COL4A4 (if available)
    TreeFam Gene Tree for COL4A4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section

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    Paralogs for COL4A4 gene
    COL4A62  COL11A22  COL4A52  COL24A12  COL5A32  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    7 SIMAP similar genes for COL4A4 using alignment to 2 protein entries:     CO4A4_HUMAN (see all proteins):
    COL4A2    COL7A1    COL4A6    COL4A5    COL4A1    COL4A3
    MARCO

    COL4A4 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), 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 COL4A4 (see all 3770)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs130276591,2,,4
    C,FHematuria, benign familial (BFH)4 --227287091(+) TTCTCC/TCTTGC 2 E G mis1 trp34Minor allele frequency- T:0.02NA EU 1329
    VAR_0081534
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0081532 G V mis40--------
    VAR_0316234
    Hematuria, benign familial (BFH)4--see VAR_0316232 G E mis40--------
    VAR_0081554
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0081552 P L mis40--------
    VAR_0019124
    Hematuria, benign familial (BFH)4--see VAR_0019122 G E mis40--------
    VAR_0316264
    Hematuria, benign familial (BFH)4--see VAR_0316262 P L mis40--------
    VAR_0019134
    Alport syndrome, autosomal recessive (APSAR)4--see VAR_0019132 G S mis40--------
    VAR_0316244
    Hematuria, benign familial (BFH)4--see VAR_0316242 G R mis40--------
    rs1219128631,2
    Cpathogenic1227244035(-) GGCCCC/TGGCCC 2 P L mis11Minor allele frequency- T:0.00EU 823
    rs1474558621,2
    C--219745930(+) CTGGC-/AATGAG 1 -- int10--------

    HapMap Linkage Disequilibrium report for COL4A4 (227867427 - 228029275 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for COL4A4:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2721548CNV Deletion23290073
    esv2661705CNV Deletion23128226
    esv271089CNV Insertion20981092
    nsv526108CNV Loss19592680
    esv25855CNV Gain+Loss19812545

    Human Gene Mutation Database (HGMD): COL4A4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing COL4A4
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A4

    (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.)
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    OMIM gene information: 120131   
    OMIM disorders: 203780  
    UniProtKB/Swiss-Prot: CO4A4_HUMAN, P53420
  • Alport syndrome, autosomal recessive (APSAR) [MIM:203780]: A syndrome characterized by progressive
    glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye
    abnormalities (lenticonous and macular flecks). 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
  • Hematuria, benign familial (BFH) [MIM:141200]: An autosomal dominant condition characterized by
    non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized
    pathologically by thinning of the glomerular basement membrane. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • Selected diseases for COL4A4 (see all 29):    About MalaCards
    autosomal recessive alport syndrome    col4a4-related nephropathy    autosomal dominant alport syndrome    thin basement membrane nephropathy
    corneal ectasia    alport syndrome    alport syndrome and thin basement membrane nephropathy    nail-patella syndrome
    focal segmental glomerulosclerosis    leiomyomatosis    proteinuria    smallpox
    keratoconus    nephrotic syndrome    sensorineural hearing loss    glomerulonephritis
    nephritis    cataract    choroiditis    kidney disease

    5 diseases from the University of Copenhagen DISEASES database for COL4A4:
    Alport syndrome     Kidney failure     Nephritis     Proteinuria
    Sensorineural hearing loss

    COL4A4 for disorders           About GeneDecksing


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

    Selected Novoseek inferred disease relationships for COL4A4 gene (see all 11)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alport syndrome, autosomal recessive 98.7 21 12325029 (3), 17216251 (3), 9792860 (3), 12631110 (1) (see all 11)
    hematuria benign familial 97.6 9 12768082 (1), 19937058 (1), 11685592 (1), 8971907 (1) (see all 9)
    alport syndrome, autosomal dominant 97.1 3 9269635 (2), 19129241 (1)
    alports syndrome 96.5 23 15086897 (2), 17570934 (2), 12203217 (1), 12748344 (1) (see all 20)
    alport syndrome, x-linked 93.1 4 19937058 (1), 15954103 (1), 10854213 (1), 11473630 (1)
    nail-patella syndrome 76.7 1 11956245 (1)
    renal disease 70.7 9 19675380 (2), 14871398 (1), 11956245 (1), 16775036 (1) (see all 7)
    renal failure 61 2 16648256 (1), 11473630 (1)
    proteinuria 60.9 2 18726620 (1), 16648256 (1)
    glomerulonephritis 41.8 1 9792860 (1)

    GeneTests: COL4A4
    GeneReviews: COL4A4
    Genetic Association Database (GAD): COL4A4
    Human Genome Epidemiology (HuGE) Navigator: COL4A4 (11 documents)

    Export disorders for COL4A4 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 COL4A4 gene, integrated from 10 sources (see all 125):
    (articles sorted by number of sources associating them with COL4A4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the COL4A4 gene in thin basement membrane disease. (PubMed id 12631110)1, 2, 4, 9 Buzza M....Savige J. (Kidney Int. 2003)
    2. Polymorphisms in COL4A3 and COL4A4 genes associated with keratoconus. (PubMed id 20029656)1, 4, 9 Stabuc-Silih M....Strazisar M. (Mol. Vis. 2009)
    3. Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy. (PubMed id 19675380)1, 4, 9 Baek J.I....Kim U.K. (Indian J. Med. Res. 2009)
    4. Two genes, COL4A3 and COL4A4 coding for the human alpha3(IV) and alpha4(IV) collagen chains are arranged head-to-head on chromosome 2q36. (PubMed id 9537506)1, 2, 9 Momota R....Ninomiya Y. (FEBS Lett. 1998)
    5. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome. (PubMed id 9792860)1, 2, 9 Boye E.... Antignac C. (Am. J. Hum. Genet. 1998)
    6. The clinical spectrum of type IV collagen mutations. (PubMed id 9195222)1, 2, 9 Lemmink H.H.... Smeets H.J.M. (Hum. Mutat. 1997)
    7. Benign familial hematuria due to mutation of the type IV collagen alpha4 gene. (PubMed id 8787673)1, 2, 9 Lemmink H.H.... Smeets H.J.M. (J. Clin. Invest. 1996)
    8. Isolation and sequencing of cDNAs and genomic DNAs encoding the alpha 4 chain of basement membrane collagen type IV and assignment of the gene to the distal long arm of human chromosome 2. (PubMed id 1429714)1, 2, 9 Kamagata Y.... Ninomiya Y. (J. Biol. Chem. 1992)
    9. Genetics and clinical characteristics of keratoconus. (PubMed id 20664914)1, 4 Stabuc-Silih M....Glavac D. (Acta Dermatovenerol Alp Panonica Adriat 2010)
    10. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (Am. J. Obstet. Gynecol. 2010)

    (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: 1286 HGNC: 2206 AceView: COL4A4 Ensembl:ENSG00000081052 euGenes: HUgn1286
    ECgene: COL4A4 Kegg: 1286 H-InvDB: COL4A4

    (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 COL4A4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COL4A4[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for COL4A4 gene:
    Search GeneIP for patents involving COL4A4

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



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