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

IVL Gene

protein-coding   GIFtS: 57
GCID: GC01P152881

Involucrin

Microbiology & Infectious Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
involucrin1 2

External Ids:    HGNC: 61871   Entrez Gene: 37132   Ensembl: ENSG000001632077   OMIM: 1473605   UniProtKB: P074763   

Export aliases for IVL gene to outside databases

Previous GC identifers: GC01P150697 GC01P148663 GC01P149656 GC01P150097 GC01P149695 GC01P151147 GC01P124244


(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 IVL Gene:
Involucrin, a component of the keratinocyte crosslinked envelope, is found in the cytoplasm and crosslinked to
membrane proteins by transglutaminase. This gene is mapped to 1q21, among calpactin I light chain, trichohyalin,
profillaggrin, loricrin, and calcyclin. (provided by RefSeq, Jul 2008)

GeneCards Summary for IVL Gene: 
IVL (involucrin) is a protein-coding gene. Diseases associated with IVL include senile angioma, and clear cell acanthoma, and among its related super-pathways are G-Beta Gamma Signaling. GO annotations related to this gene include structural molecule activity and protein binding, bridging.

UniProtKB/Swiss-Prot: INVO_HUMAN, P07476
Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia

Gene Wiki entry for IVL (Involucrin) 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_000001.10  NC_018912.2  NT_004487.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the IVL gene promoter:
         USF1   AP-1   ATF-2   NF-kappaB   HEN1   SREBP-1a   USF-1   c-Jun   NF-kappaB1   Pax-4a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidIVL promoter sequence
   Search SABiosciences Chromatin IP Primers for IVL

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


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

Entrez Gene cytogenetic band: 1q21   Ensembl cytogenetic band:  1q21.3   HGNC cytogenetic band: 1q21

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P152881:  view genomic region     (about GC identifiers)

Start:
152,881,021 bp from pter      End:
152,884,362 bp from pter
Size:
3,342 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: INVO_HUMAN, P07476 (See protein sequence)
Recommended Name: Involucrin  
Size: 585 amino acids; 68479 Da
Subunit: Directly or indirectly cross-linked to cornifelin (CNFN)
Subcellular location: Cytoplasm. Note=Constituent of the scaffolding of the cornified envelope
1 PDB 3D structure from and Proteopedia for IVL:
1EU0 (3D)    
Secondary accessions: Q5T7P4

Explore the universe of human proteins at neXtProt for IVL: NX_P07476

Explore proteomics data for IVL at MOPED 

Post-translational modifications:

  • UniProtKB: Substrate of transglutaminase. Some glutamines and lysines are cross-linked to other involucrin molecules, to
    other proteins such as keratin, desmoplakin, periplakin and envoplakin, and to lipids like omega-hydroxyceramide
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07476

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

    IVL Protein Expression
    REFSEQ proteins: NP_005538.2  
    ENSEMBL proteins: 
     ENSP00000357753   ENSP00000376435  

    Human Recombinant Protein Products for IVL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for IVL
    GenScript Custom Purified and Recombinant Proteins Services for IVL
    Novus Biologicals IVL Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for IVL
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001533cornified envelope IDA10908733
    GO:0005737cytoplasm IDA16639001

    IVL for ontologies           About GeneDecksing



    IVL Antibody Products: 
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    Novus Biologicals IVL Antibodies
    Abcam antibodies for IVL
    Browse Antibodies at Cloud-Clone Corp. 
    ThermoFisher Antibody for IVL
    LSBio Antibodies in human, mouse, rat for IVL 

    Assay Products for IVL: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for IVL
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp. 
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR019743 Involucrin_CS
     IPR002360 Involucrin
     IPR019571 Involucrin_N
     IPR000354 Involucrin_rpt

    Graphical View of Domain Structure for InterPro Entry P07476

    ProtoNet protein and cluster: P07476

    2 Blocks protein domains:
    IPB000354 Involucrin repeat
    IPB002360 Involucrin


    UniProtKB/Swiss-Prot: INVO_HUMAN, P07476
    Similarity: Belongs to the involucrin family


    IVL 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: INVO_HUMAN, P07476
    Function: Part of the insoluble cornified cell envelope (CE) of stratified squamous epithelia

         Genatlas biochemistry entry for IVL:
    involucrin,precursor of cornified cell enveloppe (major component of keratinocyte cross-linked enveloppe),SPRR
    family,cytosol protein ultimately cross-linked to membrane by transglutaminase

         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 IDA10908733
    GO:0030674protein binding, bridging IDA10908733
         
    IVL for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for IVL:
     Increased gamma-H2AX phosphory  Metaphase cells 

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

    IVL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ivltm1Dji for IVL

       inGenious Targeting Laboratory - Custom generated mouse model solutions for IVL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for IVL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for IVL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for IVL 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IVL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate IVL:
    hsa-miR-92a-1*
    SwitchGear 3'UTR luciferase reporter plasmidIVL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for IVL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IVL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for IVL
    Sirion Biotech Customized adenovirus for overexpression of IVL

    Clone
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    Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene clones in human, mouse for IVL (see all 4)
    OriGene ORF clones in mouse, rat for IVL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IVL (NM_005547)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IVL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IVL
    Sirion Biotech Customized lentivirus for stable overexpression of IVL 
                         Customized lentivirus expression plasmids for stable overexpression of IVL 

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for IVL
    Search LifeMap BioReagents cell lines for IVL
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IVL


    (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 IVL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1G-Beta Gamma Signaling
    CRHR Pathway0.44
    2Validated transcriptional targets of AP1 family members Fra1 and Fra2
    Validated transcriptional targets of AP1 family members Fra1 and Fra2

    1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for IVL
        CRHR Pathway

    1 BioSystems Pathway for IVL
        Validated transcriptional targets of AP1 family members Fra1 and Fra2


    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for IVL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

    5/15 Interacting proteins for IVL (P074763 ENSP000003577534) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CSTAP010403, ENSP000002644744I2D: score=1 STRING: ENSP00000264474
    LORP234903, ENSP000003577314I2D: score=1 STRING: ENSP00000357731
    SPRR3Q9UBC93, ENSP000002953674I2D: score=1 STRING: ENSP00000295367
    DSPP159243, ENSP000003691294I2D: score=1 STRING: ENSP00000369129
    EVPLQ928173, ENSP000003016074I2D: score=2 STRING: ENSP00000301607
    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:0010224response to UV-B IDA16639001
    GO:0018149peptide cross-linking IDA10908733
    GO:0018153isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine TAS1601889
    GO:0030216keratinocyte differentiation IDA10908733
    GO:0031424keratinization IEA--

    IVL 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

    IVL for compounds           About GeneDecksing

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

    Browse Tocris compounds for IVL (INVO)

    10/87 Novoseek inferred chemical compound relationships for IVL gene (see all 87)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    calcipotriol 61.8 3 8996256 (1), 11394895 (1), 8818184 (1)
    ceramides 60.5 4 7979551 (1), 9209676 (1), 15908761 (1), 9651377 (1)
    retinoic acid 56.3 29 19120344 (3), 10389939 (2), 8959344 (2), 7516397 (2) (see all 17)
    1,25 dihydroxy vitamin d3 53.1 12 12445200 (4), 8996256 (1), 8359229 (1), 9990355 (1) (see all 5)
    ro 31 8220 53 2 12652652 (1), 7512976 (1)
    cholesterol-sulfate 52.3 5 11254751 (3)
    retinoid 52.3 9 1693821 (2), 8649863 (1), 10210784 (1), 8381448 (1) (see all 6)
    12-o-tetradecanoylphorbol 13-acetate 51.3 5 9506439 (2), 1716253 (1), 10636851 (1)
    epsilon-(gamma-glutamyl)lysine 51 2 1601889 (1), 10657763 (1)
    calcium 49.6 87 1970572 (4), 10469331 (3), 12652652 (3), 7910167 (3) (see all 53)

    Search CenterWatch for drugs/clinical trials and news about IVL / INVO

    (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 IVL gene: 
    NM_005547.2  

    Unigene Cluster for IVL:

    Involucrin
    Hs.516439  [show with all ESTs]
    Unigene Representative Sequence: NM_005547
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000368764(uc001fau.3) ENST00000392667
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat IVL
    1 QIAGEN miScript miRNA Assays for microRNA that regulate IVL:
    hsa-miR-92a-1*
    SwitchGear 3'UTR luciferase reporter plasmidIVL 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for IVL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat IVL
    Clone
    Products:
         
    OriGene clones in human, mouse for IVL (see all 4)
    OriGene ORF clones in mouse, rat for IVL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: IVL (NM_005547)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for IVL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat IVL
    Sirion Biotech Customized lentivirus for stable overexpression of IVL 
                         Customized lentivirus expression plasmids for stable overexpression of IVL 
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for IVL
    SABiosciences RT2 qPCR Primer Assay in human, mouse / rat IVL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat IVL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IVL

    Additional mRNA sequence: 

    AK300492.1 AK301649.1 BC046391.2 

    2 DOTS entries:

    DT.40305592  DT.100667468 

    17 AceView cDNA sequences:

    BF842492 BG288752 NM_005547 BF843102 BM563605 BX093013 BC046391 AA582881 
    AI924634 AI333571 BG289354 BM811601 AW265277 BG677646 BG679040 BE551822 
    BE350364 

    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

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


    IVL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/13 selected tissues (see all 13) fully expand
     
     Epidermis (Integumentary System)    fully expand to see all 6 entries
             Spinous Keratinocytes Stratified Epidermis
             Full-thickness skin substitutes
             vulva/anal skin ; epidermal cells   
     
     Epithelium (Reproductive System)    fully expand to see all 4 entries
             vagina ; squamous epithelial cells   
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Oral Cavity (Gastrointestinal Tract)    fully expand to see all 2 entries
             oral mucosa ; squamous epithelial cells   
             mouth   
     
     Pancreas (Endocrine System)    fully expand to see all 2 entries
             Islets of Langerhans
             pancreas ; exocrine glandular cells   

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

    SOURCE GeneReport for Unigene cluster: Hs.516439

    UniProtKB/Swiss-Prot: INVO_HUMAN, P07476
    Tissue specificity: Keratinocytes of epidermis and other stratified squamous epithelia

        SABiosciences Custom PCR Arrays for IVL
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat IVL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for IVL

    (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 and fungi.

    Orthologs for IVL gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ivl1 , 5 involucrin1, 5 56.56(n)1
    36.04(a)1
      3 (40.14 cM)5
    164471  NM_008412.21  NP_032438.21 
     925709125 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG343826
    --
    5(a)
    1 → many
    3L(9872085-9877593)
    worm
    (Caenorhabditis elegans)
    Secernentea sma-96
    Protein SMA-9, isoform l
    2(a)
    1 → many
    X(10769288-10782962)
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes DEF16
    RNAPII degradation factor, forms a complex with Ra...
    3(a)
    1 → many
    XI(336537-338753)


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

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

    (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

    10/244 SNPs in IVL are shown (see all 244)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1906239981,2
    C--124246671(+) CTGAAA/GCACCT 2 K syn10--------
    rs617313401,2
    C,F--124246725(+) GGGCAG/ATTGGA 2 /Q syn13Minor allele frequency- A:0.02NS WA NA 3002
    rs75455201,2,4
    C,F,A,H--124246816(+) GCCAGG/CTGAAG 2 /L /V mis1 ese314Minor allele frequency- C:0.34EA NS NA WA CSA 3582
    rs2020362061,2
    --124246878(+) CAGCCA/GAAGCA 2 P syn10--------
    rs1395854071,2
    C--124246881(+) CCAAAG/TCACCT 2 K N mis10--------
    rs1497188231,2
    C,F--124246891(+) TGGAAC/GAGCAG 2 Q E mis11Minor allele frequency- G:0.00NA 3134
    rs1477695561,2
    C--124246892(+) GGAACA/G/TGCAGG 3 Q R L mis11NA 3140
    rs1412669531,2
    C--124246894(+) AACAGC/GAGGAA 2 Q E mis11Minor allele frequency- G:0.00NA 3180
    rs626376991,2
    F--152882981(+) CTCCCA/TCAGCA 2 P syn11Minor allele frequency- T:0.30NS 56
    rs122396481,2
    C,F,H--159380493(+) TGATTA/TGTTCT 1 -- us2k115Minor allele frequency- T:0.10NA NS EA WA CSA 803

    HapMap Linkage Disequilibrium report for IVL (152881021 - 152884362 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for IVL:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv29281CNV Loss19812545
    nsv831592CNV Gain17160897
    dgv131e1CNV Complex17122850

    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing IVL
    DNA2.0 Custom Variant and Variant Library Synthesis for IVL

    (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: 147360    OMIM disorders: --

    20/65 diseases for IVL (see all 65):    About MalaCards
    senile angioma    clear cell acanthoma    intravenous leiomyomatosis    cauda equina syndrome
    discoid lupus erythematosus    acanthoma    middle ear cholesteatoma    ichthyosis vulgaris
    keratoacanthoma    cholesteatoma    porokeratosis    pleomorphic carcinoma
    hailey-hailey disease    molluscum contagiosum    adenosquamous carcinoma    recessive dystrophic epidermolysis bullosa
    lichen sclerosus    monilethrix    cervical intraepithelial neoplasia    squamous cell carcinoma of the head and neck

    12 diseases from the University of Copenhagen DISEASES database for IVL:
    Psoriasis     Leiomyoma     Lymphoma     Congenital ichthyosiform erythroderma
    Keratosis     Carcinoma     Dermatitis     Clear cell acanthoma
    Uterine fibroid     Smooth muscle tumor     Hemophagocytic lymphohistiocytosis     Senile angioma

    IVL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    The International Symposium on Pneumococci and Pneumococcal Diseases (ISPPD) 9 - 13 March 2014

    10/63 Novoseek inferred disease relationships for IVL gene (see all 63)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    parakeratosis 74.8 5 14705799 (2), 9136148 (1), 9138475 (1), 17223863 (1)
    psoriasis 70.3 14 9167334 (2), 10738637 (1), 7516410 (1), 15187321 (1) (see all 12)
    carcinoma squamous cell 68.9 34 8932948 (3), 7645007 (2), 17878746 (2), 14760391 (2) (see all 26)
    skin diseases 62.8 5 9341972 (1), 18312435 (1), 8600780 (1), 10358171 (1) (see all 5)
    porokeratosis 57.9 2 8434728 (1), 1719839 (1)
    congenital ichthyosis 53.2 2 8740259 (1), 8097623 (1)
    other skin disorders 49.3 1 8740259 (1)
    metaplasia 49.3 5 15888153 (1), 12665627 (1), 18542030 (1), 19489101 (1)
    cholesteatoma middle ear 48.7 1 10406309 (1)
    ichthyosis vulgaris 48.1 1 8733372 (1)

    Genetic Association Database (GAD): IVL
    Human Genome Epidemiology (HuGE) Navigator: IVL (1 document)

    Export disorders for IVL 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 IVL gene, integrated from 9 sources (see all 623):
    (articles sorted by number of sources associating them with IVL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Structure and evolution of the human involucrin gene. (PubMed id 2873896)1, 2, 3 Eckert R.L. and Green H. (1986)
    2. Biophysical characterization of involucrin reveals a molecule ideally suited to function as an intermolecular cross-bridge of the keratinocyte cornified envelope. (PubMed id 1601889)1, 2, 9 Yaffe M.B.... Eckert R.L. (1992)
    3. Identification and characterization of a novel component of the cornified envelope, cornifelin. (PubMed id 15147942)1, 2, 9 Michibata H.... Imai Y. (2004)
    4. Ceramides are bound to structural proteins of the human foreskin epidermal cornified cell envelope. (PubMed id 9651377)1, 2, 9 Marekov L.N. and Steinert P.M. (1998)
    5. S100A11, S100A10, annexin I, desmosomal proteins, small proline-rich proteins, plasminogen activator inhibitor-2, and involucrin are components of the cornified envelope of cultured human epidermal keratinocytes. (PubMed id 9115270)1, 2, 9 Robinson N.A.... Eckert R.L. (1997)
    6. Variation in genes of the epidermal differentiation c omplex in German atopic dermatitis patients. (PubMed id 19601998)1, 4 Stemmler S....Hoffjan S. (2009)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. The glutamine residues reactive in transglutaminase-catalyzed cross- linking of involucrin. (PubMed id 2461365)1, 2 Simon M. and Green H. (1988)
    9. Direct evidence that involucrin is a major early isopeptide cross-linked component of the keratinocyte cornified cell envelope. (PubMed id 8999895)1, 9 Steinert P.M. and Marekov L.N. (1997)
    10. Roxithromycin suppresses involucrin expression by modulation of activator protein-1 and nuclear factor-kappaB activities of keratinocytes. (PubMed id 16140218)1, 9 Takahashi H....Iizuka H. (2005)

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

      Query String
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      (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: 3713 HGNC: 6187 AceView: IVL Ensembl:ENSG00000163207 euGenes: HUgn3713
    ECgene: IVL H-InvDB: IVL

    (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 IVL Pharmacogenomics, SNPs, Pathways

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

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



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