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DSG4 Gene

protein-coding   GIFtS: 54
GCID: GC18P028956

Desmoglein 4

  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)
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Aliases
Desmoglein 41 2     CDGF132
Cadherin Family Member 132 3     CDH Family Member 132
CDHF132 3     desmoglein-42
LAH2 5     

External Ids:    HGNC: 213071   Entrez Gene: 1474092   Ensembl: ENSG000001750657   OMIM: 6078925   UniProtKB: Q86SJ63   

Export aliases for DSG4 gene to outside databases

Previous GC identifers: GC18P028776 GC18P027208 GC18P027210 GC18P025812


(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 DSG4 Gene:
This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a
transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in
the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders.
Alternate splicing results in multiple transcript variants. (provided by RefSeq, Sep 2009)

GeneCards Summary for DSG4 Gene:
DSG4 (desmoglein 4) is a protein-coding gene. Diseases associated with DSG4 include localized autosomal recessive hypotrichosis, and autosomal recessive hypotrichosis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6
Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to
differentiation in hair follicle keratinocytes (By similarity)

Gene Wiki entry for DSG4 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_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the DSG4 gene promoter:
         HFH-3   TBP   AML1a   POU6F1 (c2)   Gfi-1   FOXI1   RORalpha1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDSG4 promoter sequence
   Search Chromatin IP Primers for DSG4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat DSG4


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

Entrez Gene cytogenetic band: 18q12.1   Ensembl cytogenetic band:  18q12.1   HGNC cytogenetic band: 18q12.1

DSG4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
DSG4 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18P028956:  view genomic region     (about GC identifiers)

Start:
28,956,740 bp from pter      End:
28,994,875 bp from pter
Size:
38,136 bases      Orientation:
plus 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: DSG4_HUMAN, Q86SJ6 (See protein sequence)
Recommended Name: Desmoglein-4 precursor  
Size: 1040 amino acids; 113824 Da
Secondary accessions: A2RUI1 Q6Y9L9 Q8IXV4
Alternative splicing: 2 isoforms:  Q86SJ6-1   Q86SJ6-2   

Explore the universe of human proteins at neXtProt for DSG4: NX_Q86SJ6

Explore proteomics data for DSG4 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn110, Asn545
  • Modification sites at PhosphoSitePlus

  • See DSG4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001127925.1  NP_817123.1  

    ENSEMBL proteins: 
     ENSP00000311859   ENSP00000352785  

    DSG4 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for DSG4
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    Novus Biologicals DSG4 Protein
    Novus Biologicals DSG4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DSG4

    DSG4 Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    R&D Systems Antibodies for DSG4 (Desmoglein-4)
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    Novus Biologicals DSG4 Antibodies
    Abcam antibodies for DSG4
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    Search ThermoFisher Antibodies for DSG4
    LSBio Antibodies in human, mouse, rat for DSG4

    DSG4 Assay Products:

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    Cloud-Clone Corp. ELISAs for DSG4
    Cloud-Clone Corp. CLIAs for DSG4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    MCDH: Cadherins / Major cadherins

    Selected InterPro protein domains (see all 7):
     IPR027397 Catenin_binding_dom
     IPR009123 Desmoglein
     IPR000233 Cadherin_cytoplasmic-dom
     IPR002126 Cadherin
     IPR015919 Cadherin-like

    Graphical View of Domain Structure for InterPro Entry Q86SJ6

    ProtoNet protein and cluster: Q86SJ6

    3 Blocks protein domains:
    IPB002126 Cadherin
    IPB009122 Desmosomal cadherin signature
    IPB009123 Desmoglein signature


    UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain (By similarity)
    Similarity: Contains 4 cadherin domains


    DSG4 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: DSG4_HUMAN, Q86SJ6
    Function: Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and
    intermediate filaments mediating cell-cell adhesion. Coordinates the transition from proliferation to
    differentiation in hair follicle keratinocytes (By similarity)

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    DSG4 for ontologies           About GeneDecksing


    Phenotypes:
         9 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Dsg4):
     adipose tissue  endocrine/exocrine gland  growth/size/body  hematopoietic system  homeostasis/metabolism 
     immune system  integument  mortality/aging  pigmentation 

    DSG4 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for DSG4
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for DSG4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for DSG4
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for DSG4

    miRNA
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    Block miRNA regulation of human, mouse, rat DSG4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DSG4:
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidDSG4 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for DSG4
    Predesigned siRNA for gene silencing in human, mouse, rat DSG4

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for DSG4

    Clone
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    OriGene clones in human, mouse for DSG4 (see all 11)
    OriGene ORF clones in mouse, rat for DSG4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DSG4 (NM_177986)
    Sino Biological Human cDNA Clone for DSG4
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG4

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for DSG4 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG4


    (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
    DSG4_HUMAN, Q86SJ6: Cell membrane; Single-pass type I membrane protein (By similarity). Cell junction, desmosome
    (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    extracellular2
    cytoskeleton1
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0030057desmosome IEA--

    DSG4 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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG4: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for DSG4

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for DSG4 (Q86SJ63 ENSP000003527854) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MLST8Q9BVC43I2D: score=1 
    RAB24Q969Q53I2D: score=1 
    PKP3ENSP000003316784STRING: ENSP00000331678
    --Q6FG913I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001942hair follicle development ----
    GO:0007156homophilic cell adhesion IEA--
    GO:0016337cell-cell adhesion ----
    GO:0030216keratinocyte differentiation IEA--
    GO:0030509BMP signaling pathway IEA--

    DSG4 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 DSG4

    1 HMDB Compound for DSG4    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (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 DSG4 gene (2 alternative transcripts): 
    NM_001134453.1  NM_177986.3  

    Unigene Cluster for DSG4:

    Desmoglein 4
    Hs.407618  [show with all ESTs]
    Unigene Representative Sequence: NM_001134453
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000308128(uc002kwq.2) ENST00000359747(uc002kwr.2)
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat DSG4 using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate DSG4:
    hsa-miR-20a hsa-miR-519d hsa-miR-106a hsa-miR-106b hsa-miR-93 hsa-miR-20b hsa-miR-17 hsa-miR-526b*
    SwitchGear 3'UTR luciferase reporter plasmidDSG4 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for DSG4
    Predesigned siRNA for gene silencing in human, mouse, rat DSG4
    Clone
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    OriGene clones in human, mouse for DSG4 (see all 11)
    OriGene ORF clones in mouse, rat for DSG4
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): DSG4 (NM_177986)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for DSG4
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat DSG4
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for DSG4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSG4
      QuantiTect SYBR Green Assays in human, mouse, rat DSG4
      QuantiFast Probe-based Assays in human, mouse, rat DSG4

    Additional mRNA sequence: 

    AY168788.1 AY177664.1 AY227350.1 AY228236.1 BC039098.1 BC132907.1 BC132909.1 

    1 DOTS entry:

    DT.100741566 

    6 AceView cDNA sequences:

    NM_177986 AY177664 AY227350 BC039098 BG723199 AY168788 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for DSG4    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b
    SP1:                                                                                -                     
    SP2:                                                                          -                           


    ECgene alternative splicing isoforms for DSG4

    (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 Genevestigator, and/or 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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    DSG4 expression in normal human tissues (normalized intensities)      DSG4 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTTTCTGCCT
    DSG4 Expression
    About this image


    DSG4 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Epithelial Cells
             Spinous Keratinocytes Stratified Epidermis
     
     Epidermis (Integumentary System)
             Spinous Keratinocytes Stratified Epidermis
    DSG4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DSG4 Protein Expression

    Genevestigator expression for DSG4

    SOURCE GeneReport for Unigene cluster: Hs.407618

    UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6
    Tissue specificity: Highly expressed in skin, testis and prostate; less in salivary gland. In scalp follicles,
    present in the inner root sheath (IRS) and all layers of the matrix and precortex

        Pathway & Disease-focused RT2 Profiler PCR Arrays including DSG4: 
              Adherens Junctions in human mouse rat
              Cell Junction PathwayFinder in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for DSG4
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat DSG4
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    QuantiFast Probe-based Assays in human, mouse, rat DSG4
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for DSG4

    (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 DSG4 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dsg41 , 5 desmoglein 41, 5 82.93(n)1
    82.64(a)1
      18 (11.35 cM)5
    167691  NM_181564.21  NP_853543.11 
     204361755 
    chicken
    (Gallus gallus)
    Aves DSG41 desmoglein 4 60.56(n)
    54.45(a)
      428528  XM_426082.4  XP_426082.4 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    46(a)
    1 → many
    GL343207.1(3859127-3883207)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia dsg41 desmoglein 4 53.52(n)
    44.31(a)
      100495741  XM_002934132.2  XP_002934178.2 
    zebrafish
    (Danio rerio)
    Actinopterygii dsg2l6
    si:ch73-74h11.16
    (see all 3)
    si:ch73-74h11.1
    (see all 3)
    28(a)
    24(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    2(2392159-2424881) ENSDARG00000076426
    20(16989151-17012815) ENSDARG00000062750


    ENSEMBL Gene Tree for DSG4 (if available)
    TreeFam Gene Tree for DSG4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for DSG4 gene
    DSC12  CDH42  DSG12  CDH132  CDH32  DSG22  CDH12  CDH262  
    DSC32  CDH22  DSC22  CDH152  DSG32  
    4 SIMAP similar genes for DSG4 using alignment to 1 protein entry:     DSG4_HUMAN:
    DSG3    DSG1    DSG2    CDH13

    DSG4 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 DSG4 (see all 1004)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs58238071,2
    C--25838714(+) GAAGC-/AAAAAA 2 -- int10--------
    rs785631301,2
    --28947066(+) GTACTG/TTAGGA 2 -- us2k10--------
    rs1450166811,2
    --28947276(+) CACTAC/TTGCAC 2 -- us2k10--------
    rs1132055981,2
    C,F--28947284(+) CACTCC/TAGCCT 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs10317311,2
    C,F,A--28947295(+) GAGAAA/GCAGAG 2 -- us2k110Minor allele frequency- G:0.35NA CSA WA EA 372
    rs10317321,2
    C,F,A,H--28947404(+) CTCCTC/TAGTTA 2 -- us2k126Minor allele frequency- T:0.32NS EA NA CSA WA 2762
    rs1414773511,2
    --28947585(+) TTCAAA/GTAGAT 2 -- us2k10--------
    rs1112677161,2
    F--28947658(+) AGTGTA/GAACAA 2 -- us2k12Minor allele frequency- G:0.04CSA WA 120
    rs124582941,2
    C,F,A,H--28947748(+) GTCACA/TTAAAG 2 -- us2k127Minor allele frequency- T:0.32NS EA NA CSA WA 2776
    rs1115603721,2
    C,F--28947900(+) GAATAC/TATTCT 2 -- us2k12Minor allele frequency- T:0.10WA 120

    HapMap Linkage Disequilibrium report for DSG4 (28956740 - 28994875 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for DSG4:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv909517CNV Loss21882294
    nsv458045CNV Gain19166990
    esv2751776CNV Gain17911159
    nsv524890CNV Gain19592680

    Human Gene Mutation Database (HGMD): DSG4
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing DSG4
    DNA2.0 Custom Variant and Variant Library Synthesis for DSG4

    (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: 607892   
    OMIM disorders: 607903  
    UniProtKB/Swiss-Prot: DSG4_HUMAN, Q86SJ6
  • Hypotrichosis 6 (HYPT6) [MIM:607903]: A condition characterized by the presence of less than the normal
    amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The disorder affects the
    trunk and extremities as well as the scalp, and the eyebrows and eyelashes may also be involved, whereas beard,
    pubic, and axillary hairs are largely spared. In addition, patients can develop hyperkeratotic follicular
    papules, erythema, and pruritus in affected areas. In some patients with congenital hypotrichosis,
    monilethrix-like hairs showing elliptical nodes have been observed. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Note=Autoantibodies against DSG4 are found in patients with pemphigus vulgaris. Pemphigus vulgaris is a
    potentially lethal skin disease in which epidermal blisters occur as the result of the loss of cell-cell adhesion

  • 14 diseases for DSG4:    About MalaCards
    localized autosomal recessive hypotrichosis    autosomal recessive hypotrichosis    hypotrichosis    ritter's disease
    pemphigus vulgaris    hypotrichosis 11    monilethrix    impetigo
    pemphigus foliaceus    pemphigus    skin disease    multiple myeloma
    myeloma    prostatitis

    3 diseases from the University of Copenhagen DISEASES database for DSG4:
    Monilethrix     Hypotrichosis     Impetigo

    DSG4 for disorders           About GeneDecksing

    4 Novoseek inferred disease relationships for DSG4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hypotrichosis, localized, autosomal recessive 98.7 5 16575393 (2), 16439973 (1), 16382669 (1)
    monilethrix 94.2 4 16575393 (2), 19683850 (1)
    pemphigus 71.9 3 17294735 (1), 19456767 (1)
    pemphigus vulgaris 66.7 1 17294735 (1)


    Export disorders for DSG4 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 DSG4 gene, integrated from 10 sources (see all 29):
    (articles sorted by number of sources associating them with DSG4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Genetic evidence for a novel human desmosomal cadherin, desmoglein 4. (PubMed id 12648213)1, 2, 3, 9 Whittock N.V. and Bower C. (J. Invest. Dermatol. 2003)
    2. A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis. (PubMed id 15191570)1, 2 Rafiq M.A.... Ahmad W. (J. Invest. Dermatol. 2004)
    3. 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. (Genome Res. 2004)
    4. Desmoglein 4 in hair follicle differentiation and epidermal adhesion. Evidence from inherited hypotrichosis and acquired pemphigus vulgaris. (PubMed id 12705872)1, 2 Kljuic A....Christiano A.M. (Cell 2003)
    5. Desmoglein 4 is expressed in highly differentiated keratinocytes and trichocytes in human epidermis and hair follicle. (PubMed id 16533311)1, 9 Bazzi H....Christiano A.M. ( research in biological diversity 2006)
    6. Desmoglein 4 is regulated by transcription factors implicated in hair shaft differentiation. (PubMed id 19683850)1, 9 Bazzi H....Christiano A.M. ( research in biological diversity 2009)
    7. [Gene fragments cloned and immune recognition studied preliminarily for desmoglein 4 in pemphigus vulgaris]. (PubMed id 17294735)1, 9 Li W....Ran Y.P. (Sichuan Da Xue Xue Bao Yi Xue Ban 2007)
    8. Mutations in the desmoglein 4 gene are associated with monilethrix-like congenital hypotrichosis. (PubMed id 16439973)1, 9 Shimomura Y....Ito M. (J. Invest. Dermatol. 2006)
    9. An autosomal recessive form of monilethrix is caused by mutations in DSG4: clinical overlap with localized autosomal recessive hypotrichosis. (PubMed id 16575393)1, 9 Zlotogorski A....Pras E. (J. Invest. Dermatol. 2006)
    10. Mutations in the desmoglein 4 gene underlie localized autosomal recessive hypotrichosis with monilethrix hairs and congenital scalp erosions. (PubMed id 16543896)1, 9 Schaffer J.V....Christiano A.M. (J. Invest. Dermatol. 2006)

    (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: 147409 HGNC: 21307 AceView: DSG4 Ensembl:ENSG00000175065 euGenes: HUgn147409
    ECgene: DSG4 H-InvDB: DSG4

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for DSG4 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/gtr/tests/217391/

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for DSG4 gene:
    Search GeneIP for patents involving DSG4

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



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