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

COL4A6 Gene

protein-coding   GIFtS: 64
GCID: GC0XM107386

Collagen, Type IV, Alpha 6

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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 61 2     Collagen IV, Alpha-6 Polypeptide2
CXDELq22.32 5     Collagen Of Basement Membrane, Alpha-62
DELXq22.32 5     DJ889N15.4 (Collagen Alpha 6(IV))2
Collagen Alpha-6(IV) Chain2     EC 2.7.7.88

External Ids:    HGNC: 22081   Entrez Gene: 12882   Ensembl: ENSG000001975657   OMIM: 3036315   UniProtKB: Q140313   

Export aliases for COL4A6 gene to outside databases

Previous GC identifers: GC0XM102806 GC0XM104474 GC0XM105431 GC0XM106170 GC0XM107204 GC0XM107285 GC0XM097021


(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 COL4A6 Gene:
This gene encodes one of the six subunits of type IV collagen, the major structural component 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, alpha 5 type IV collagen, so that the gene pair shares a common
promoter. Deletions in the alpha 5 gene that extend into the alpha 6 gene result in diffuse leiomyomatosis
accompanying the X-linked Alport syndrome caused by the deletion in the alpha 5 gene. Two splice variants have
been identified for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for COL4A6 Gene: 
COL4A6 (collagen, type IV, alpha 6) is a protein-coding gene. Diseases associated with COL4A6 include leiomyomatosis, and 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 COL11A2.

UniProtKB/Swiss-Prot: CO4A6_HUMAN, Q14031
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 COL4A6 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 COL4A6 gene promoter:
         NF-AT4   NF-AT2   HOXA5   NF-AT3   NF-AT1   NF-AT   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): COL4A6 promoter sequence
   Search SABiosciences Chromatin IP Primers for COL4A6

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat COL4A6


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

COL4A6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
COL4A6 gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM107386:  view genomic region     (about GC identifiers)

Start:
107,386,780 bp from pter      End:
107,682,727 bp from pter
Size:
295,948 bases      Orientation:
minus 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: CO4A6_HUMAN, Q14031 (See protein sequence)
Recommended Name: Collagen alpha-6(IV) chain precursor  
Size: 1691 amino acids; 163807 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: Q12823 Q14053 Q5JYH6 Q5JYH8 Q9NQM5 Q9NTX3 Q9UJ76 Q9UMG6 Q9Y4L4
Alternative splicing: 2 isoforms:  Q14031-1   Q14031-2   

Explore the universe of human proteins at neXtProt for COL4A6: NX_Q14031

Explore proteomics data for COL4A6 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_Q14031

  • 2 DME Specific Peptides for COL4A6 (Q14031)
     LPGRDGL  LPGKDGL 

    COL4A6 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    COL4A6 Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001838.2  NP_378667.1  

    ENSEMBL proteins: 
     ENSP00000334733   ENSP00000361290   ENSP00000406002   ENSP00000378340   ENSP00000443707  
     ENSP00000445236  
    Reactome Protein details: Q14031
    Human Recombinant Protein Products for COL4A6: 
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    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005581collagen ----
    GO:0005587collagen type IV NAS8125972
    GO:0005604basement membrane ----
    GO:0005788endoplasmic reticulum lumen TAS--

    COL4A6 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 Q14031

    ProtoNet protein and cluster: Q14031

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


    UniProtKB/Swiss-Prot: CO4A6_HUMAN, Q14031
    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


    COL4A6 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: CO4A6_HUMAN, Q14031
    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 COL4A6:
    collagen type IV,alpha 6,basement membrane,expressed in kidney renal tubules,not located in glomerular BM,also
    expressed in esophagus and lung and in the dermoepidermal junction during fetal skin development

         Enzyme Number (IUBMB): EC 2.7.7.82

         Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005201extracellular matrix structural constituent NAS--
         
    COL4A6 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Col4a6):
     normal 

    COL4A6 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Col4a6tm1Jrs for COL4A6

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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 COL4A6 About   (see all 18)                                                                                              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
    3Focal Adhesion
    Focal Adhesion0.64
    Focal adhesion0.64
    4Cell adhesion ECM remodeling
    Cell adhesion ECM remodeling0.31
    Metalloproteases in connective tissue degradation0.31
    5Integrin 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

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5/6 EMD Millipore Pathways for COL4A6 (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 COL4A6 (see all 15)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    5 GeneGo (Thomson Reuters) Pathways for COL4A6
        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 COL4A6
        Focal Adhesion

    5/9        Reactome Pathways for COL4A6 (see all 9)
        Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Degradation of collagen
    Anchoring fibril formation
    ECM proteoglycans

    1 PharmGKB Pathway for COL4A6
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/7         Kegg Pathways  (Kegg details for COL4A6) (see all 7):
        PI3K-Akt signaling pathway
    Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis


    COL4A6 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for COL4A6

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

    5/80 Interacting proteins for COL4A6 (Q140313 ENSP000003612904) via UniProtKB, MINT, STRING, and/or I2D (see all 80)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    CD93Q9NPY33, ENSP000002460064I2D: score=1 STRING: ENSP00000246006
    DCNP075853, ENSP000000527544I2D: score=1 STRING: ENSP00000052754
    FN1P027513, ENSP000003468394I2D: score=1 STRING: ENSP00000346839
    HABP2Q145203, ENSP000002779034I2D: score=1 STRING: ENSP00000277903
    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:0007155cell adhesion IEA--
    GO:0022617extracellular matrix disassembly TAS--
    GO:0030198extracellular matrix organization TAS--
    GO:0030574collagen catabolic process TAS--
    GO:0071230cellular response to amino acid stimulus IEA--

    COL4A6 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
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for COL4A6 (CO4A6)

    Search CenterWatch for drugs/clinical trials and news about COL4A6 / CO4A6

    (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 COL4A6 gene (2 alternative transcripts): 
    NM_001847.2  NM_033641.2  

    Unigene Cluster for COL4A6:

    Collagen, type IV, alpha 6
    Hs.145586  [show with all ESTs]
    Unigene Representative Sequence: NM_033641
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000334504(uc004env.4 uc011msn.2 uc010npk.3) ENST00000372216(uc004enw.4)
    ENST00000487645 ENST00000468338 ENST00000461897(uc004enx.2) ENST00000477085(uc004eny.2)
    ENST00000418180(uc011msm.1) ENST00000394872 ENST00000545689 ENST00000538570


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    Additional mRNA sequence: 

    AK098221.1 AK300502.1 AK302734.1 BC000874.1 BC005305.1 BC070203.1 BC140855.1 BC144669.1 
    BT007228.1 D21337.1 EU182215.1 L22763.1 U04845.1 

    7 DOTS entries:

    DT.100022166  DT.97797434  DT.91903198  DT.443940  DT.91824900  DT.99934091  DT.95338592 

    24/55 AceView cDNA sequences (see all 55):

    AW082083 CD676232 CR605243 BG740770 CA397764 AI273913 AW627863 BG680578 
    CA488244 BM699063 AA912712 AA910008 BG330884 BC070203 AI889828 CD635211 
    U04845 NM_033641 BF726518 BQ941056 AI378422 CA489342 AI890815 BC000874 

    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

    COL4A6 expression in normal human tissues (normalized intensities)      COL4A6 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGTCAGTTT
    COL4A6 Expression
    About this image


    COL4A6 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
     
     Uncategorized (Uncategorized)    fully expand to see all 5 entries
             PureStem Progenitor W10
     
     Endothelium (Cardiovascular System)    fully expand to see all 3 entries
             Umbilical cord blood-derived endothelial progenitor cells
             Human Villous Capillary Endothelial Cells (HVCEC)   
             aorta   
     
     Dermis (Integumentary System)    fully expand to see all 3 entries
             Dermal Fibroblasts Dorsal Dermis
     
     Uterus (Reproductive System)    fully expand to see all 2 entries
             uterine fibroid tissue   
     
     Smooth Muscle (Muscoskeletal System)
             Human Bladder Smooth Muscle Cells (HBdSMC)   

    See COL4A6 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for COL4A6

    SOURCE GeneReport for Unigene cluster: Hs.145586
        SABiosciences Custom PCR Arrays for COL4A6
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COL4A6

    (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 COL4A6 gene from 7/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Col4a61 , 5 collagen, type IV, alpha 61, 5 82.07(n)1
    80.25(a)1
      X (61.80 cM)5
    942161  NM_053185.21  NP_444415.21 
     1411654035 
    chicken
    (Gallus gallus)
    Aves COL4A61 collagen, type IV, alpha 6 65.71(n)
    65.11(a)
      422350  XM_420322.3  XP_420322.3 
    lizard
    (Anolis carolinensis)
    Reptilia COL4A66
    collagen, type IV, alpha 6
    63(a)
    1 ↔ 1
    GL343202.1(3989034-4145144)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.36402 Xenopus laevis transcribed sequence with moderate similarity more 80(n)    BJ073613.1 
    zebrafish
    (Danio rerio)
    Actinopterygii col4a66
    BX511067.16
    (see all 4)
    Uncharacterized protein
    (see all 4)
    53(a)
    45(a)
    (see all 4)
    1 ↔ 1
    possible ortholog
    (see all 4)
    7(52375619-52557318)
    7(60514062-60533771)
    fruit fly
    (Drosophila melanogaster)
    Insecta Cg25C3 dorsal closure 39(a)
    (best of 2)
      25C1   --
    worm
    (Caenorhabditis elegans)
    Secernentea let-23 alpha-2 type IV collagen 71(a)
    (best of 2)
      X(16411823-16420128)   --


    ENSEMBL Gene Tree for COL4A6 (if available)
    TreeFam Gene Tree for COL4A6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A6 gene
    COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL4A22  COL5A22  
    COL5A12  COL4A32  COL1A22  COL7A12  COL2A12  COL3A12  COL27A12  COL4A12  
    COL11A12  
    9 SIMAP similar genes for COL4A6 using alignment to 9 protein entries:     CO4A6_HUMAN (see all proteins):
    MSR1    COL4A5    C1QB    COL4A2    COL4A4    FCN2
    COL4A1    COLEC11    COL4A3

    COL4A6 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

    10/3756 SNPs in COL4A6 are shown (see all 3756)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr X posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0357484
    A colorectal cancer sample4--see VAR_0357482 G E mis40--------
    rs2001320411,2
    --107398409(+) CACAC-/AACACA 2 -- ds50010--------
    rs2021734981,2
    --107398681(+) CAGCT-/CTTTGA
            
    CTTTG
    2 -- ds50010--------
    rs1426048231,2
    --107398967(+) TTTATA/GTAATA 2 -- ut310--------
    rs1509925171,2
    C--107399162(+) TTTTAA/TGAGGT 2 -- ut310--------
    rs1399524551,2
    --107399248(+) AACATA/CCTCAG 2 -- ut310--------
    rs1435051491,2
    --107399251(+) ATCCTC/GAGAAT 2 -- ut310--------
    rs1836434581,2
    --107399363(+) TACCTC/TTTTGT 2 -- ut310--------
    rs59738501,2
    C,F,A,H--107399421(+) CTACTT/CCTGGC 2 -- ut31 ese316Minor allele frequency- C:0.39NS EA NA WA 1974
    rs10420711,2
    C,F,A,H--107399513(-) GAGGAT/CGTGGC 2 -- ut31 ese320Minor allele frequency- C:0.37MN NA NS EA WA 2290

    HapMap Linkage Disequilibrium report for COL4A6 (107386780 - 107636780 bp, first 250kb of COL4A6)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for COL4A6:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv9265CNV Gain19470904


    Human Gene Mutation Database (HGMD): COL4A6

    Locus Specific Mutation Databases (LSDB): COL4A6
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing COL4A6
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A6

    (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: 303631   
    OMIM disorders: 308940  
    UniProtKB/Swiss-Prot: CO4A6_HUMAN, Q14031
  • 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)

  • 18 diseases for COL4A6:    About MalaCards
    leiomyomatosis    alport syndrome    secretory meningioma    smooth muscle tumor
    pancreatic diseases    leiomyoma    laryngeal squamous cell carcinoma    meningioma
    cataract    laryngitis    squamous cell carcinoma    esophageal squamous cell carcinoma
    esophagitis    colorectal cancer    alzheimer's disease    pancreatitis
    lung cancer    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for COL4A6:
    Alport syndrome     Leiomyoma

    COL4A6 for disorders           About GeneDecksing


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

    7 Novoseek inferred disease relationships for COL4A6 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leiomyomatosis 94.6 17 16114791 (2), 7833948 (2), 9562604 (1), 8599366 (1) (see all 13)
    alport syndrome, x-linked 94.5 3 11096082 (1), 8587250 (1), 10499074 (1)
    alports syndrome 93.7 19 8599366 (3), 8738805 (2), 7833948 (2), 9562604 (1) (see all 13)
    leiomyoma 45.6 1 9502408 (1)
    renal failure 25.8 2 7706490 (1), 8738805 (1)
    cataract 9.44 1 16114791 (1)
    tumors 6.62 5 9042160 (3), 18074349 (1), 9915944 (1)

    Genetic Association Database (GAD): COL4A6
    Human Genome Epidemiology (HuGE) Navigator: COL4A6 (6 documents)

    Export disorders for COL4A6 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 COL4A6 gene, integrated from 9 sources (see all 80):
    (articles sorted by number of sources associating them with COL4A6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Deletion of the paired alpha 5(IV) and alpha 6(IV) collagen genes in inherited smooth muscle tumors. (PubMed id 8356449)1, 2, 3, 9 Zhou J.... Reeders S.T. (1993)
    2. Structure of the human type IV collagen COL4A6 gene, which is mutated in Alport syndrome-associated leiomyomatosis. (PubMed id 8661006)1, 2, 9 Zhang X.... Tryggvason K. (1996)
    3. Identification of fetal and maternal single nucleotid e polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PubMed id 20452482)1, 4 Romero R....Menon R. (2010)
    4. A genetic association study of maternal and fetal can didate genes that predispose to preterm prelabor rupture of membranes (PROM). (PubMed id 20673868)1, 4 Romero R....Menon R. (2010)
    5. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    6. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    7. Complete primary structure of the sixth chain of human basement membrane collagen, alpha 6(IV). Isolation of the cDNAs for alpha 6(IV) and comparison with five other type IV collagen chains. (PubMed id 8175748)1, 2 Zhou J.... Reeders S.T. (1994)
    8. Identification of a new collagen IV chain, alpha 6(IV), by cDNA isolation and assignment of the gene to chromosome Xq22, which is the same locus for COL4A5. (PubMed id 8125972)1, 2 Oohashi T.... Ninomiya Y. (1994)
    9. The genes COL4A5 and COL4A6, coding for basement membrane collagen chains alpha 5(IV) and alpha 6(IV), are located head-to-head in close proximity on human chromosome Xq22 and COL4A6 is transcribed from two alternative promoters. (PubMed id 7972123)1, 9 Sugimoto M....Ninomiya Y. (1994)
    10. Isolation and structure of the COL4A6 gene encoding the human alpha6(IV) collagen chain and comparison with other type IV collagen genes. (PubMed id 7592929)1, 9 Oohashi T.... Ninomiya Y. (1995)

    (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: 1288 HGNC: 2208 AceView: COL4A6 Ensembl:ENSG00000197565 euGenes: HUgn1288
    ECgene: COL4A6 Kegg: 1288 H-InvDB: COL4A6

    (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 COL4A6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL4A6 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for COL4A6 gene:
    Search GeneIP for patents involving COL4A6

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



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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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