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

CDH3 Gene

protein-coding   GIFtS: 69
GCID: GC16P068679

Cadherin 3, Type 1, P-Cadherin (Placental)

(Previous names: cadherin 3, P-cadherin (placental))
  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
Cadherin 3, Type 1, P-Cadherin (Placental)1 2     cadherin-32
CDHP2 3 5     Calcium-Dependent Adhesion Protein, Placental2
HJMD2 5     P-cadherin3
PCAD2 5     Placental Cadherin3
Cadherin 3, P-Cadherin (Placental)1     

External Ids:    HGNC: 17621   Entrez Gene: 10012   Ensembl: ENSG000000620387   OMIM: 1140215   UniProtKB: P222233   

Export aliases for CDH3 gene to outside databases

Previous GC identifers: GC16P059362 GC16P069056 GC16P068414 GC16P068454 GC16P067236 GC16P054551


(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 CDH3 Gene:
This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium-dependent
cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a
highly conserved cytoplasmic tail. This gene is located in a six-cadherin cluster in a region on the long arm of
chromosome 16 that is involved in loss of heterozygosity events in breast and prostate cancer. In addition,
aberrant expression of this protein is observed in cervical adenocarcinomas. Mutations in this gene have been
associated with congential hypotrichosis with juvenile macular dystrophy. (provided by RefSeq, Jul 2008)

GeneCards Summary for CDH3 Gene: 
CDH3 (cadherin 3, type 1, P-cadherin (placental)) is a protein-coding gene. Diseases associated with CDH3 include malignant mixed mullerian tumor, and eem syndrome, and among its related super-pathways are Cell-cell junction organization and MAPK Signaling. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DSC1.

UniProtKB/Swiss-Prot: CADH3_HUMAN, P22223
Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types

Gene Wiki entry for CDH3 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_000016.9  NT_010498.15  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDH3 gene promoter:
         COUP-TF1   Sp1   AP-1   ATF-2   COUP   HNF-4alpha2   HNF-4alpha1   AREB6   COUP-TF   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDH3 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDH3

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDH3


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

Entrez Gene cytogenetic band: 16q22.1   Ensembl cytogenetic band:  16q22.1   HGNC cytogenetic band: 16q22.1

CDH3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDH3 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P068679:  view genomic region     (about GC identifiers)

Start:
68,670,092 bp from pter      End:
68,756,519 bp from pter
Size:
86,428 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: CADH3_HUMAN, P22223 (See protein sequence)
Recommended Name: Cadherin-3 precursor  
Size: 829 amino acids; 91418 Da
Subunit: Interacts with CDCP1
Subcellular location: Cell membrane; Single-pass type I membrane protein
Secondary accessions: B2R6F4 Q05DI6
Alternative splicing: 2 isoforms:  P22223-1   P22223-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CDH3: NX_P22223

Explore proteomics data for CDH3 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P22223

  • CDH3 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CDH3 Protein Expression
    REFSEQ proteins: NP_001784.2  
    ENSEMBL proteins: 
     ENSP00000264012   ENSP00000398485   ENSP00000464021   ENSP00000462111   ENSP00000464058  
     ENSP00000463267   ENSP00000463364   ENSP00000463415   ENSP00000462948  
    Reactome Protein details: P22223
    Human Recombinant Protein Products for CDH3: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005913cell-cell adherens junction IEA--
    GO:0016020membrane ----
    GO:0016021integral to membrane IEA--

    CDH3 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: 
    MCDH: Cadherins / Major cadherins

    5 InterPro protein domains:
     IPR000233 Cadherin_cytoplasmic-dom
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR027397 Catenin_binding_dom
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry P22223

    ProtoNet protein and cluster: P22223

    2 Blocks protein domains:
    IPB000233 Cadherin cytoplasmic region
    IPB002126 Cadherin


    UniProtKB/Swiss-Prot: CADH3_HUMAN, P22223
    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 5 cadherin domains


    CDH3 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: CADH3_HUMAN, P22223
    Function: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in
    a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types

         Genatlas biochemistry entry for CDH3:
    cadherin 3,P-cadherin,placental,transmembrane glycoprotein component of adherens junction,expressed in
    placenta,forming a complex with the catenin that is loss in poorly differentiated esophageal squamous carcinoma

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
         
    CDH3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for CDH3:
     Stronger migration 

         2 MGI mutant phenotypes (inferred from 1 allele(MGI details for Cdh3):
     endocrine/exocrine gland  integument 

    CDH3 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cdh3tm1Hyn for CDH3

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CDH3 
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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 CDH3 About   (see all 11)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Cell-cell junction organization
    Cell-cell junction organization0.69
    Cell-Cell communication0.64
    Cell junction organization0.69
    Adherens junctions interactions0.51
    2Rho Family GTPases
    Rho Family GTPases0.61
    ILK Signaling0.49
    3Nanog in Mammalian ESC Pluripotency
    GSK3 Signaling0.61
    4Canonical Wnt Pathway
    Canonical Wnt Pathway0.53
    5Cell adhesion Cadherin-mediated cell adhesion
    Cell adhesion Cadherin-mediated cell adhesion1.00

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CDH3
        Cell adhesion Cadherin-mediated cell adhesion

    5/7 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDH3 (see all 7)
        S-1P Stimulated Signaling
    ILK Signaling
    GSK3 Signaling
    G12-G13 in Cellular Signaling
    Presenilin-Mediated Signaling

    1 Cell Signaling Technology (CST) Pathway for CDH3
        Adhesion

    1 GeneGo (Thomson Reuters) Pathway for CDH3
        Cell adhesion Cadherin-mediated cell adhesion

    1 Sino Biological Pathway for CDH3 
        Canonical Wnt Pathway

    4        Reactome Pathways for CDH3
        Adherens junctions interactions
    Cell junction organization
    Cell-Cell communication
    Cell-cell junction organization


    1         Kegg Pathway  (Kegg details for CDH3):
        Cell adhesion molecules (CAMs)


    CDH3 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDH3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    5/10 Interacting proteins for CDH3 (P222233 ENSP000002640124) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNND1O607163, ENSP000003820044I2D: score=3 STRING: ENSP00000382004
    CTNNA1P352213, ENSP000003046694I2D: score=2 STRING: ENSP00000304669
    CDH1P128303, ENSP000002617694I2D: score=1 STRING: ENSP00000261769
    JUPP149233, ENSP000003111134I2D: score=1 STRING: ENSP00000311113
    CTNNB1P352223, ENSP000003444564I2D: score=2 STRING: ENSP00000344456
    About this table

    Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007155cell adhesion TAS2793940
    GO:0007156homophilic cell adhesion IEA--
    GO:0007601visual perception IEA--
    GO:0016337cell-cell adhesion ----
    GO:0034329cell junction assembly TAS--

    CDH3 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

    CDH3 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CDH3 (CADH3)

    1 HMDB Compound for CDH3    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--

    6 Novoseek inferred chemical compound relationships for CDH3 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    estrogen 40.9 25 15548699 (3), 12608656 (3), 16115928 (2), 7534041 (1) (see all 17)
    paraffin 37.3 8 12657131 (1), 18184410 (1), 16803529 (1), 18990147 (1) (see all 8)
    progesterone 36.7 7 7534041 (1), 15933754 (1), 18811693 (1), 17146782 (1) (see all 7)
    nitric oxide 4.76 2 14669304 (1), 16475686 (1)
    calcium 0 23 9840799 (4), 9359492 (3), 10381572 (1), 9297684 (1) (see all 11)
    tyrosine 0 2 9359492 (2)

    Search CenterWatch for drugs/clinical trials and news about CDH3 / CADH3

    (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 CDH3 gene: 
    NM_001793.4  

    Unigene Cluster for CDH3:

    Cadherin 3, type 1, P-cadherin (placental)
    Hs.191842  [show with all ESTs]
    Unigene Representative Sequence: NM_001793
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000565453 ENST00000264012(uc002ewf.2 uc010vli.1) ENST00000429102
    ENST00000542274 ENST00000566808 ENST00000569036 ENST00000567674 ENST00000568292
    ENST00000569080 ENST00000569117 ENST00000581171
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    Additional mRNA sequence: 

    AK225396.1 AK296968.1 AK312554.1 BC014462.1 BC041846.1 X63629.1 

    12 DOTS entries:

    DT.113659  DT.100779495  DT.100779494  DT.91947365  DT.120665526  DT.120665528  DT.120665631  DT.75102866 
    DT.92033387  DT.95080929  DT.97780589  DT.95258646 

    24/160 AceView cDNA sequences (see all 160):

    CA489338 CA454360 BM766222 CA454560 CB992509 CA489357 BM045728 BU168948 
    BQ676796 CA489124 BU543746 BE378969 BM909817 BG319601 AW473194 AI827275 
    NM_001793 BM923882 CB996355 BG538137 C00249 BQ936686 CF593464 CB997053 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDH3    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15 ^ 16
    SP1:                                                                                            -                           
    SP2:              -                                                                                                         
    SP3:                                      -                                                                                 
    SP4:                    -                                                                                                   
    SP5:                                                                                                                        


    ECgene alternative splicing isoforms for CDH3

    (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

    CDH3 expression in normal human tissues (normalized intensities)      CDH3 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TACGGTGGCG
    CDH3 Expression
    About this image


    CDH3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/44 selected tissues (see all 44) fully expand
     
     Epithelium
             Human Bronchial Epithelial Cells (HBEpiC)   
     
     Brain (Nervous System)    fully expand to see all 11 entries
             Thalamus
             Olfactory Bulb   
     
     Lung (Respiratory System)    fully expand to see all 7 entries
             Trachea
             bronchus ; respiratory epithelial cells   
     
     Epidermis (Integumentary System)    fully expand to see all 7 entries
             Full-thickness skin substitutes
             Human EpiDermal Keratinocytes (HEK)   
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 6 entries
             ES03(HES-3)
             ESI-051   

    See CDH3 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDH3

    SOURCE GeneReport for Unigene cluster: Hs.191842

    UniProtKB/Swiss-Prot: CADH3_HUMAN, P22223
    Tissue specificity: Expressed in some normal epithelial tissues and in some carcinoma cell lines

        SABiosciences Expression via Pathway-Focused PCR Arrays including CDH3: 
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              Adherens Junctions in human mouse rat

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

    This gene was present in the common ancestor of chordates.

    Orthologs for CDH3 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cdh31 , 5 cadherin 31, 5 82.5(n)1
    83.27(a)1
      8 (53.16 cM)5
    125601  NM_001037809.41  NP_001032898.11 
     1065109135 
    chicken
    (Gallus gallus)
    Aves CDH31 cadherin 3, type 1, P-cadherin (placental) 68.99(n)
    65.91(a)
      414845  XM_003641956.1  XP_003642004.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.340612 X.laevis mRNA for blastomere cadherin 73.03(n)    X78546.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdh16
    si:ch211-206i14.26
    (see all 5)
    si:ch211-206i14.2
    (see all 5)
    45(a)
    42(a)
    (see all 5)
    many ↔ many
    many ↔ many
    (see all 5)
    7(56206925-56228078)
    7(56377825-56427099)


    ENSEMBL Gene Tree for CDH3 (if available)
    TreeFam Gene Tree for CDH3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDH3 gene
    DSC12  CDH42  DSG42  CDH162  DSG12  CDH132  DSG22  CDH12  
    CDH262  DSC32  CDH22  DSC22  CDH152  DSG32  CDH172  
    18/26 SIMAP similar genes for CDH3 using alignment to 8 protein entries:     CADH3_HUMAN (see all proteins) (see all similar genes):
    CDH1    CDH2    CDH4    DSC2    CDH15    DKFZp434K1130
    CDH13    DKFZp686P18250    CDH24    CDH7    CDH26    CDH9
    DSC1    PCDH1    CDH11    CDH10    CDH19    CDH20

    CDH3 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

    10/1310 SNPs in CDH3 are shown (see all 1310)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0154224
    Hypotrichosis congenital with juvenile macular dystrophy (HJMD)4--see VAR_0154222 R H mis40--------
    VAR_0330104
    Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM)4--see VAR_0330102 N I mis40--------
    rs1214345421,2
    Cpathogenic169725614(+) CGACCG/ATGAGG 2 /H /R mis11Minor allele frequency- A:0.00NA 4552
    rs1939210541,2
    Cuntested169716847(+) ATGGCA/GAGACA 2 K E mis10--------
    rs343944041,2
    C,Funtested169725011(+) TAGTGG/ATCCAC 2 /I /V mis16Minor allele frequency- A:0.01NA EU 6057
    rs350052791,2
    C--68680440(+) CCTGAG/-GGGGG 1 -- int12Minor allele frequency- -:0.25NA 4
    rs353948361,2
    C--68680576(+) AAACCT/-TAGTT 1 -- int12Minor allele frequency- -:0.25NA 4
    rs30496971,2
    C--68680902(-) TGCAGAG/-TTATT 1 -- int12Minor allele frequency- -:0.25NA CSA 4
    rs99339071,2
    C,F,A,H--68687154(+) ATTTTT/ATTTTT 1 -- int14Minor allele frequency- A:0.20NA WA 10
    rs1114421321,2
    C--68688344(+) CTCACA/GCCTGT 1 -- int10--------

    HapMap Linkage Disequilibrium report for CDH3 (68670092 - 68756519 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CDH3:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv1005955CNV Deletion20482838
    esv2668844CNV Deletion23128226
    esv1728945CNV Deletion17803354
    esv2714657CNV Deletion23290073
    nsv833267CNV Gain17160897
    nsv827712CNV Gain20364138
    nsv457515CNV Gain19166990


    Human Gene Mutation Database (HGMD): CDH3

    Locus Specific Mutation Databases (LSDB): CDH3
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CDH3
    DNA2.0 Custom Variant and Variant Library Synthesis for CDH3

    (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: 114021   
    OMIM disorders: 601553  225280  
    UniProtKB/Swiss-Prot: CADH3_HUMAN, P22223
  • Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553]: A disorder characterized by
    congenital hypotrichosis, early hair loss, and severe degenerative changes of the retinal macula that culminate
    in blindness during the second to third decade of life. Note=The disease is caused by mutations affecting the
    gene represented in this entry
  • Ectodermal dysplasia, with ectrodactyly and macular dystrophy (EEM) [MIM:225280]: A form of ectodermal
    dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures.
    It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows
    and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • 20/68 diseases for CDH3 (see all 68):    About MalaCards
    malignant mixed mullerian tumor    eem syndrome    cervical adenocarcinoma    radiation proctitis
    cervicitis    hypotrichosis    hereditary diffuse gastric cancer    diffuse gastric cancer
    north american indian childhood cirrhosis    hailey-hailey disease    hereditary breast cancer    adenocarcinoma
    proctitis    pemphigus    tooth agenesis    ectodermal dysplasia
    bladder carcinoma    ductal carcinoma in situ    cutaneous malignant melanoma    prostate cancer

    2 diseases from the University of Copenhagen DISEASES database for CDH3:
    Stomatitis     Plague

    CDH3 for disorders           About GeneDecksing

    10/56 Novoseek inferred disease relationships for CDH3 gene (see all 56)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast carcinoma 68.9 32 10506713 (4), 14645693 (3), 12608656 (3), 16115928 (3) (see all 23)
    carcinoma lobular 57.6 5 7534041 (1), 14645693 (1), 11921707 (1), 10506713 (1) (see all 5)
    darier disease 56.4 3 11401672 (1), 15206690 (1)
    carcinoma 55.5 33 14645693 (5), 7743525 (3), 9842964 (2), 10492037 (2) (see all 20)
    breast cancer 55.2 56 15930334 (7), 18811693 (5), 19901964 (5), 18001487 (4) (see all 25)
    carcinoma ductal 55.1 9 7534041 (2), 11942571 (2), 11454996 (1), 12608656 (1) (see all 7)
    carcinoma medullary 50.6 2 10492037 (2)
    tumors 47.8 81 15051772 (3), 16115928 (3), 16361544 (3), 8902651 (2) (see all 49)
    pemphigus vulgaris 46.9 1 10771476 (1)
    hailey-hailey disease 46.3 1 11401672 (1)

    Genetic Association Database (GAD): CDH3
    Human Genome Epidemiology (HuGE) Navigator: CDH3 (4 documents)

    Export disorders for CDH3 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 CDH3 gene, integrated from 9 sources (see all 291):
    (articles sorted by number of sources associating them with CDH3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. (PubMed id 12445216)1, 2, 9 Indelman M.... Sprecher E. (2002)
    2. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. (PubMed id 11544476)1, 2, 9 Sprecher E....Szargel R. (2001)
    3. P-cadherin is a basal cell-specific epithelial marker that is not expressed in prostate cancer. (PubMed id 9815605)1, 2, 9 Jarrard D.F.... Isaacs W.B. (1997)
    4. Single nucleotide polymorphisms in the Wnt and BMP pa thways and colorectal cancer risk in a Spanish cohort. (PubMed id 20844743)1, 4 FernA!ndez-Rozadilla C....Ruiz-Ponte C. (2010)
    5. Genome-wide association study of ulcerative colitis i dentifies three new susceptibility loci, including the HNF4A region. (PubMed id 19915572)1, 4  .... D.P. (2009)
    6. Adhesion signaling by a novel mitotic substrate of src kinases. (PubMed id 16007225)1, 2 Bhatt A.S.... Moasser M.M. (2005)
    7. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). (PubMed id 15805154)1, 2 Kjaer K.W.... Rosenberg T. (2005)
    8. 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)
    9. The gene for the cell adhesion molecule M-cadherin maps to mouse chromosome 8 and human chromosome 16q24.1-qter and is near the E-cadherin (uvomorulin) locus in both species. (PubMed id 1427864)1, 3 Kaupmann K....Starzinski-Powitz A. (1992)
    10. Molecular cloning of a human Ca2+-dependent cell-cell adhesion molecule homologous to mouse placental cadherin: its low expression in human placental tissues. (PubMed id 2793940)1, 2 Shimoyama Y....Hirohashi S. (1989)

    (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: 1001 HGNC: 1762 AceView: CDH3 Ensembl:ENSG00000062038 euGenes: HUgn1001
    ECgene: CDH3 Kegg: 1001 H-InvDB: CDH3

    (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 CDH3 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDH3 Genetics and Cytogenetics in Oncology and Haematology
    Mutations of the CDH3 genehttp://www.retina-international.org/files/sci-news/cdh3mut.htm
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH3

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CDH3 gene:
    Search GeneIP for patents involving CDH3

    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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