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

COL4A6 Gene

protein-coding   GIFtS: 63
GCID: GC0XM107386

collagen, type IV, alpha 6
 Explore 18 diseases affiliated with
COL4A6 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for COL4A6    

Aliases
for COL4A6 gene

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


Summaries
for COL4A6 gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for COL4A6:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_011651.17  
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

Proteins
for COL4A6 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q14031

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

    COL4A6 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000361290   ENSP00000334733   ENSP00000406002   ENSP00000378340   ENSP00000443707  
     ENSP00000445236  
    Reactome Protein details: Q14031
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

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

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


    COL4A6 for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for COL4A6 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    COL4A6 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 families:
    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


    Function
    for COL4A6 gene

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

         UniProtKB/Swiss-Prot: 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

    miRNA
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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A6 (see all 32):
    hsa-miR-4254 hsa-miR-4251 hsa-let-7d hsa-miR-200a hsa-miR-29a hsa-miR-29c hsa-let-7c hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmid: COL4A6 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 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


    Animal Models:
         Mouse knock-out Col4a6tm1Jrs for COL4A6
         1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Col4a6):
     normal 

    COL4A6 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for COL4A6 gene

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

    Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell adhesion_Integrin-mediated cell adhesion and migration
    		Cell adhesion_Integrin-mediated cell adhesion and migration1.00
    		Cytoskeleton remodeling Integrin outside-in signaling0.37
    		Cell adhesion Integrin-mediated cell adhesion and migration1.00
    		Cell adhesion_Endothelial cell contacts by non-junctional mechanisms0.21
    		Cytoskeleton remodeling_Integrin outside-in signaling0.37
    		Cell adhesion Endothelial cell contacts by non-junctional mechanisms0.21
    2Integrin Pathway
    		Integrin Pathway1.00
    		UPA-UPAR Pathway0.51
    		FAK1 Signaling0.67
    		Transendothelial Migration of Leukocytes0.38
    		GnRH Signaling0.56
    		Inhibition of Angiogenesis by TSP10.37
    3Collagen formation
    		Collagen formation1.00
    		Extracellular matrix organization0.54
    		Collagen biosynthesis and modifying enzymes0.74
    		Secretion of collagens0.49
    		Assembly of collagen fibrils and other multimeric structures0.65
    4Rho Family GTPases
    		Rho Family GTPases1.00
    		MAPK Signaling0.51
    		ERK Signaling0.61
    		ILK Signaling0.45
    		Molecular Mechanisms of Cancer0.51
    5Gelatin degradation by MMP19
    		Gelatin degradation by MMP191.00
    		Anchoring fibril formation0.39
    		Gelatin degradation by MMP1, 2, 3, 7, 8, 9, 12, 130.64

    Pathway sources
    See GeneCards unified pathways
    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

    5/10        Reactome Pathways for COL4A6 (see all 10)
        Secretion of collagens
    Assembly of collagen fibrils and other multimeric structures
    Collagen formation
    Degradation of collagen
    Gelatin degradation by MMP19

    1 PharmGKB Pathway for COL4A6
        Platelet Aggregation Inhibitor Pathway, Pharmacodynamics

    5/6         Kegg Pathways  (Kegg details for COL4A6) (see all 6):
        Focal adhesion
    ECM-receptor interaction
    Protein digestion and absorption
    Amoebiasis
    Pathways in cancer


    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): 3 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion IEA--
    GO:0030198extracellular matrix organization TAS--
    GO:0071230cellular response to amino acid stimulus IEA--


    COL4A6 for ontologies           About GeneDecksing



    Drugs & Compounds
    for COL4A6 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

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

    Transcripts
    for COL4A6 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for 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:
    ENST00000372216(uc004enw.4) ENST00000334504(uc004env.4 uc011msn.2 uc010npk.3)
    ENST00000487645 ENST00000468338 ENST00000477085(uc004eny.2) ENST00000461897(uc004enx.2)
    ENST00000418180(uc011msm.1) ENST00000394872 ENST00000545689 ENST00000538570


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    8/32 QIAGEN miScript miRNA Assays for microRNAs that regulate COL4A6 (see all 32):
    hsa-miR-4254 hsa-miR-4251 hsa-let-7d hsa-miR-200a hsa-miR-29a hsa-miR-29c hsa-let-7c hsa-miR-29b-1*
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    Inhib. RNA
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    Clone
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    Additional cDNA 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):

    CA488244 BG740770 AA910008 CD676232 AI273913 CR605243 BG680578 CA397764 
    BM699063 AW627863 AA912712 AW082083 BC000874 AI889941 AW452474 BQ941056 
    BC005305 AI378422 BC070203 U04845 CA489342 AI889828 BX390747 L22763 

    GeneLoc Exon Structure


    Expression
    for COL4A6 gene

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

    COL4A6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTGTCAGTTT

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

    COL4A6 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeLensEye
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 8 LifeMap Cells 
    NameCategory
    PureStem™ endothelial progenitor RP1-MV2-18 (Embryonic Progenitor Cell)Endothelium
    PureStem™ mesenchymal progenitor 7PEND24 (Embryonic Progenitor Cell)Cartilage, Neural Crest
    PureStem™ progenitor EN2 (Embryonic Progenitor Cell)
    PureStem™ progenitor EN27 (Embryonic Progenitor Cell)
    PureStem™ progenitor SM22 (Embryonic Progenitor Cell)
    PureStem™ progenitor W10 (Embryonic Progenitor Cell)
    PureStem™ progenitor W8 (Embryonic Progenitor Cell)
    Primitive gut tube-like cells (A scalable, suspensi...)

    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:     
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    Orthologs
    for COL4A6 gene

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

    Orthologs for COL4A6 gene from 2/11 species (see all 11)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves COL4A61 collagen, type IV, alpha 6 65.71(n)
    65.11(a)    		   422350  XM_420322.3  XP_420322.3 
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.36402 Xenopus laevis transcribed sequence with moderate similarity more 80(n)    BJ073613.1 


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

    Paralogs
    for COL4A6 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for COL4A6 gene
    COL19A12  COL11A22  COL4A52  COL24A12  COL4A42  COL5A32  COL1A12  COL16A12  
    COL4A22  COL5A22  COL5A12  COL4A32  COL22A12  COL7A12  COL1A22  COL27A12  
    COL2A12  COL3A12  COL4A12  COL11A12  
    12 SIMAP similar genes for COL4A6 using alignment to 9 protein entries:     CO4A6_HUMAN (see all proteins):
    MSR1    COL4A5    C1QB    COL4A2    COL4A4    FCN2
    SCARA5    COL4A1    COLEC11    COL4A3    COLQ    MARCO

    COL4A6 for paralogs           About GeneDecksing



    Genomic Variants
    for COL4A6 gene

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

    10/3122 NCBI SNPs in COL4A6 are shown (see all 3122)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2001320411,2
    		--107398409(+) CACAC-/AACACA 2 -- ds50010--------
    rs2021734981,2
    		--107398681(+) CAGCT-/CTTTGA
                CTTTG     		2 -- ds50010--------
    rs1426048231,2
    		--107398967(+) TTTATA/GTAATA 2 -- ut310--------
    rs1509925171,2
    		--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
    rs1895878941,2
    		--107399765(+) GTGCAA/GACTTG 2 -- ut310--------

    HapMap Linkage Disequilibrium report for COL4A6 (107386780 - 107636780 bp, first 250kb of COL4A6)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for COL4A6
         1 Indel: 60776
    Human Gene Mutation Database (HGMD): COL4A6

    Locus Specific Mutation Databases (LSDB): COL4A6

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing COL4A6
    DNA2.0 Custom Variant and Variant Library Synthesis for COL4A6

    Disorders / Diseases
    for COL4A6 gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    COL4A6 for disorders           About GeneDecksing

    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
    alport syndrome    leiomyomatosis    smooth muscle tumor    secretory meningioma
    squamous cell carcinoma    laryngeal squamous cell carcinoma    esophageal squamous cell carcinoma    hematuria
    leiomyoma    laryngitis    meningioma    alzheimer's disease
    esophagitis    pancreatic diseases    colorectal cancer    lung cancer
    carcinoma    pancreatitis

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

    7 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: COL4A6 (6 documents)

    Export disorders for COL4A6 gene to outside databases

    Publications
    for COL4A6 gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for COL4A6 gene, integrated from 9 sources (see all 79):
    (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. The DNA sequence of the human X chromosome. (PubMed id 15772651)1, 2 Ross M.T.... Bentley D.R. (2005)
    4. 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)
    5. 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)
    6. 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)
    7. 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)
    8. Type IV collagen alpha6 chain-derived noncollagenous domain 1 (alpha6(IV)NC1) inhibits angiogenesis and tumor growth. (PubMed id 18074349)1, 9 Mundel T.M....Kalluri R. (2008)
    9. The expression of type IV collagen alpha6 chain is related to the prognosis in patients with esophageal squamous cell carcinoma. (PubMed id 17955302)1, 9 Baba Y....Baba H. (2008)
    10. Tissue- and developmental stage-specific activation of alpha 5 and alpha 6(IV) collagen expression in the upper gastrointestinal tract of transgenic mice. (PubMed id 14592452)1, 9 Herzog C....Zhou J. (2003)

    External Searches for COL4A6 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    Genome Databases showing COL4A6 gene

    (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

    Other Databases showing COL4A6 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing COL4A6 gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for COL4A6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COL4A6 Genetics and Cytogenetics in Oncology and Haematology

    Intellectual Property
    for COL4A6 gene

    (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



    Products
    for COL4A6 gene

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    About This Section

     
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