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

CDH1 Gene

protein-coding   GIFtS: 76
GCID: GC16P068771

cadherin 1, type 1, E-cadherin (epithelial)


(Previous symbol: UVO)
 Explore 243 diseases affiliated with
CDH1 via our new
 Human Malady Compendium 
Biological research products
for CDH1
    

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

Aliases
Cadherin 1, Type 1, E-Cadherin (Epithelial)1 2     Arc-12
UVO1 2 3 5     E-Cadherin2
CD3241 2     Cadherin 1, E-Cadherin (Epithelial)2
Uvomorulin3     Cadherin-11
Epithelial Cadherin2 3     Calcium-Dependent Adhesion Protein, Epithelial2
CDHE2 3     Cell-CAM 120/802
CAM 120/802 3     E-Cadherin2
ECAD2 5     Uvomorulin3
LCAM2 5     CD324 Antigen3

External Ids:    HGNC: 17481   Entrez Gene: 9992   Ensembl: ENSG000000390687   OMIM: 1920905   UniProtKB: P128303   

Export aliases for CDH1 gene to outside databases

Previous GC identifers: GC16P059456 GC16P069148 GC16P068506 GC16P068547 GC16P067328 GC16P054643


(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 CDH1:
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. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer.
Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or
metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain
is required for internalization. Identified transcript variants arise from mutation at consensus splice sites.
(provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
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. CDH1
is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Has a potent
invasive suppressor role. It is a ligand for integrin alpha-E/beta-7
Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP
C99 and C83 production

Gene Wiki entry for CDH1


(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_000016.9  NC_018927.1  NT_010498.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CDH1 gene promoter:
         AP-2alpha isoform 3   p53   HNF-4alpha2   AP-2alpha isoform 2   HNF-4alpha1   COUP-TF   AP-2alpha isoform 4   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCDH1 promoter sequence
   Search SABiosciences Chromatin IP Primers for CDH1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CDH1


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

CDH1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CDH1 gene location

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P068771:  view genomic region     (about GC identifiers)

Start:
68,771,128 bp from pter      End:
68,869,445 bp from pter
Size:
98,318 bases      Orientation:
plus strand

(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: CADH1_HUMAN, P12830 (See protein sequence)
Recommended Name: Cadherin-1 precursor  
Size: 882 amino acids; 97456 Da
Subunit: Homodimer; disulfide-linked. Component of an E-cadherin/ catenin adhesion complex composed of at least
E-cadherin/CDH1, beta-catenin/CTNNB1 or gamma-catenin/JUP, and potentially alpha-catenin/CTNNA1; the complex is
located to adherens junctions. The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to
F-actin when assembled in the complex. Alternatively, the CTNNA1-containing complex may be linked to F-actin by other
proteins such as LIMA1. Interaction with PSEN1, cleaves CDH1 resulting in the disassociation of cadherin-based
adherens junctions (CAJs). Interacts with AJAP1, CTNND1 and DLGAP5 (By similarity). Interacts with TBC1D2. Interacts
with LIMA1. Interacts with CAV1. Interacts with the TRPV4 and CTNNB1 complex (By similarity). Interacts with PIP5K1C.
Interacts with RAB8B (By similarity). Interacts with DDR1; this stabilizes CDH1 at the cell surface and inhibits its
internalization
Subcellular location: Cell junction. Cell membrane; Single-pass type I membrane protein. Endosome. Golgi apparatus,
trans-Golgi network. Note=Colocalizes with DLGAP5 at sites of cell-cell contact in intestinal epithelial cells.
Anchored to actin microfilaments through association with alpha-, beta- and gamma-catenin. Sequential proteolysis
induced by apoptosis or calcium influx, results in translocation from sites of cell-cell contact to the cytoplasm.
Colocalizes with RAB11A endosomes during its transport from the Golgi apparatus to the plasma membrane
Sequence caution: Sequence=AAA61259.1; Type=Frameshift; Positions=16, 22, 25, 28, 31, 34, 52, 67, 73, 76, 94, 102, 633,
636;
6/12 PDB 3D structures from and Proteopedia for CDH1 (see all 12):
1O6S (3D)        2O72 (3D)        2OMT (3D)        2OMU (3D)        2OMV (3D)        2OMX (3D)    
Secondary accessions: A8K1U7 Q13799 Q14216 Q15855 Q16194 Q4PJ14

Explore the universe of human proteins at neXtProt for CDH1: NX_P12830

Post-translational modifications:

  • During apoptosis or with calcium influx, cleaved by a membrane-bound metalloproteinase (ADAM10), PS1/gamma-secretase
  • and caspase-3 to produce fragments of about 38 kDa (E-CAD/CTF1), 33 kDa (E-CAD/CTF2) and 29 kDa (E-CAD/CTF3),
    respectively. Processing by the metalloproteinase, induced by calcium influx, causes disruption of cell-cell adhesion
    and the subsequent release of beta-catenin into the cytoplasm. The residual membrane-tethered cleavage product is
    rapidly degraded via an intracellular proteolytic pathway. Cleavage by caspase-3 releases the cytoplasmic tail
    resulting in disintegration of the actin microfilament system. The gamma-secretase-mediated cleavage promotes
    disassembly of adherens junctions1
  • N-glycosylation at Asn-637 is essential for expression, folding and trafficking1
  • Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated by
  • CBLL1/HAKAI, requires prior phosphorylation at Tyr-7541
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P12830

  • CDH1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_004351.1  
    ENSEMBL proteins: 
     ENSP00000261769   ENSP00000454782   ENSP00000414946   ENSP00000458139   ENSP00000463170  
    Reactome Protein details: P12830
    Human Recombinant Protein Products: 
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    Novus Biologicals CDH1 Proteins
    Novus Biologicals CDH1 Lysate
    Sino Biological Recombinant Protein for CDH1
    ProSpec Recombinant Protein for CDH1
    Uscn Proteins for CDH1

    Gene Ontology (GO): 5/25 cellular component terms (GO ID links to tree view) (see all 25):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005768endosome IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005802trans-Golgi network IMP17620337
    GO:0005886plasma membrane TAS--


    CDH1 for ontologies           About GeneDecksing



    CDH1 Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CDH1
    R&D Systems Antibodies for CDH1 (E-Cadherin)
    Cell Signaling Technology (CST) Antibodies for CDH1 
    OriGene Antibodies (see all 11): CDH1
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    Novus Biologicals CDH1 Antibodies
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    ThermoFisher Antibody for CDH1

    Assay Products for CDH1: 
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    R&D Systems ELISAs for CDH1 (E-Cadherin)         (see all)
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    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CDH1


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

    CDH1 for domains           About GeneDecksing

    5 InterPro domains/families:
     IPR000233 Cadherin_cytoplasmic-dom
     IPR015919 Cadherin-like
     IPR014868 Cadherin_pro_dom
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry P12830

    ProtoNet protein and cluster: P12830

    2 Blocks protein families:
    IPB000233 Cadherin cytoplasmic region
    IPB002126 Cadherin


    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
    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
    Similarity: Contains 5 cadherin domains


    (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: CADH1_HUMAN, P12830
    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. CDH1
    is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells. Has a potent
    invasive suppressor role. It is a ligand for integrin alpha-E/beta-7
    Function: E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP
    C99 and C83 production
    Induction: Expression is repressed by MACROD1

         Genatlas biochemistry entry for CDH1:
    cadherin 1,E-cadherin,transmembrane glycoprotein major adhesion receptor component of adherens junction,expressed in
    epithelial cell,downregulator of cell growth,complexing with CTNNB1,mutated in signet ring cell carcinoma of stomach
    (with poor clinical outcome) in colorectal cancer and in lobular breast cancer (see TSG16A) not in adenocarcinoma of
    the oesophagus,deleted during development of carcinomas (see TSG16H and TSG16A),involved in metaplasia of ovarian
    surface epithelium and in ovarian neoplastic progression

    miRNA
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    miRTarBase miRNAs that target CDH1:
    hsa-mir-9 (MIRT000029)

    OriGene 3'-UTR Clone: CDH1
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CDH1
    8/22 QIAGEN miScript miRNA Assays for microRNAs that regulate CDH1 (see all 22):
    hsa-miR-495 hsa-miR-340 hsa-miR-373* hsa-miR-3692 hsa-miR-374a* hsa-miR-511 hsa-miR-9 hsa-miR-1323
    SwitchGear 3'UTR luciferase reporter plasmidCDH1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CDH1 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH1

    Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding IPI--
    GO:0008013beta-catenin binding IDA17620337
    GO:0019903protein phosphatase binding IEA--
    GO:0019904protein domain specific binding IEA--


    CDH1 for ontologies           About GeneDecksing


    3 GenomeRNAi human phenotypes for CDH1:
     G0/1 arrest  Increased G1 DNA content  Synthetic lethal with c-Myc af 

    Animal Models:
         Mouse knock-outs for CDH1: Cdh1tm1Cbm Cdh1tm3.2Kem Cdh1tm2.1Kem
         14 MGI mutant phenotypes (inferred from 16 alleles(MGI details for Cdh1):
     cardiovascular system  cellular  digestive/alimentary  embryogenesis  endocrine/exocrine gland 
     growth/size  homeostasis/metabolism  immune system  integument  mortality/aging 
     no phenotypic analysis  normal  reproductive system  tumorigenesis 

    CDH1 for phenotypes           About GeneDecksing


    (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 - 5/51 super-pathways (see all 51About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cell-cell junction organization
    Cell-cell junction organization1.00
    Adherens junctions interactions0.51
    Cell junction organization0.69
    Cell-Cell communication0.45
    2Rho Family GTPases
    Rho Family GTPases1.00
    ILK Signaling0.45
    Molecular Mechanisms of Cancer0.51
    3Immune System
    Immune System1.00
    Adaptive Immune System0.59
    4Apoptotic cleavage of cellular proteins
    Apoptotic cleavage of cellular proteins1.00
    Apoptotic execution phase0.73
    5Pathogenic Escherichia coli infection
    Pathogenic Escherichia coli infection1.00
    Pathogenic Escherichia coli infection0.98

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    3 EMD Millipore Pathways for CDH1
        Selected targets of Oct-3/4
    Cell adhesion Cadherin-mediated cell adhesion
    Metalloproteases in connective tissue degradation

    5/17 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for CDH1 (see all 17)
        Sertoli-Sertoli Cell Junction Dynamics
    Remodeling of Adherens Junctions
    Molecular Mechanisms of Cancer
    G12-G13 in Cellular Signaling
    EGF Pathway

    2 Cell Signaling Technology (CST) Pathways for CDH1
        Cytoskeletal Signaling
    Adhesion

    2 GeneGo (Thomson Reuters) Pathways for CDH1
        Development HGF signaling pathway
    Cell adhesion Cadherin-mediated cell adhesion

    5/17 BioSystems Pathways for CDH1 (see all 17
        Neural Crest Differentiation
    Cell cycle
    Integrated Breast Cancer Pathway
    Wnt Signaling Pathway NetPath
    Pathogenic Escherichia coli infection

    5/13        Reactome Pathways for CDH1 (see all 13)
        Integrin cell surface interactions
    Apoptotic execution phase
    Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
    Adaptive Immune System
    Apoptosis


    5/9         Kegg Pathways  (Kegg details for CDH1) (see all 9):
        Cell adhesion molecules (CAMs)
    Adherens junction
    Bacterial invasion of epithelial cells
    Pathogenic Escherichia coli infection
    Pathways in cancer


    CDH1 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CDH1

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

    5/140 Interacting proteins for CDH1 (P128301, 2, 3 ENSP000002617694) via UniProtKB, MINT, STRING, and/or I2D (see all 140)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CTNNA1P352212, 3, ENSP000003046694MINT-7010191 I2D: score=6 STRING: ENSP00000304669
    CTNND1O607162, 3, ENSP000003820044MINT-8385411 I2D: score=5 STRING: ENSP00000382004
    PSEN1P497682, 3, ENSP000003263664MINT-49819 I2D: score=4 STRING: ENSP00000326366
    PPP1CAP621361, 3, ENSP000003260314EBI-727477,EBI-2623163 I2D: score=2 STRING: ENSP00000326031
    PRKD1Q151391, 3, ENSP000003335684EBI-727477,EBI-1181072 I2D: score=1 STRING: ENSP00000333568
    About this table

    Gene Ontology (GO): 5/34 biological process terms (GO ID links to tree view) (see all 34):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001701in utero embryonic development ----
    GO:0001829trophectodermal cell differentiation IEA--
    GO:0006915apoptotic process TAS--
    GO:0006921cellular component disassembly involved in execution phase of apoptosis TAS--
    GO:0007156homophilic cell adhesion NAS16338932


    CDH1 for ontologies           About GeneDecksing



    (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

    CDH1 for compounds           About GeneDecksing

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

    Browse Tocris compounds for CDH1

    1 HMDB Compound for CDH1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    10/142 Novoseek chemical compound relationships for CDH1 gene (see all 142)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    matrigel 67.8 20 1793731 (2), 7881109 (1), 19497979 (1), 19293150 (1) (see all 15)
    tyrosine 57.3 214 17087658 (5), 15662113 (4), 11710913 (4), 14675348 (4) (see all 99)
    paraffin 56.9 47 10070338 (1), 12657131 (1), 12800081 (1), 16575127 (1) (see all 45)
    5-aza-2'deoxycytidine 56.8 30 15015578 (3), 15065602 (3), 19881540 (2), 16887905 (2) (see all 17)
    estrogen 51.1 128 19383788 (4), 17893710 (3), 17652530 (3), 14500345 (3) (see all 85)
    vegf 47.2 126 15571312 (6), 14981918 (4), 10424737 (4), 17167724 (3) (see all 76)
    progesterone 46.5 75 15459769 (2), 15605082 (2), 7534041 (1), 10545751 (1) (see all 66)
    sodium bisulfite 46.1 1 17369979 (1)
    tgf beta1 45.2 27 20043090 (3), 19741012 (3), 20440766 (2), 16253118 (2) (see all 13)
    erlotinib 38.4 12 19433879 (3), 19147758 (2), 16361555 (2), 18473353 (1) (see all 5)

    Search CenterWatch for drugs/clinical trials and news about CDH1 / CADH1 

    (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,
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    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 CDH1 gene: 
    NM_004360.3  

    Unigene Cluster for CDH1:

    Cadherin 1, type 1, E-cadherin (epithelial)
    Hs.461086  [show with all ESTs]
    Unigene Representative Sequence: NM_004360
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000261769(uc002ewg.1 uc010vlj.1 uc010cfg.1) ENST00000566612
    ENST00000422392 ENST00000566510 ENST00000562836 ENST00000564676 ENST00000564745
    ENST00000561751 ENST00000567320 ENST00000565810 ENST00000562118 ENST00000563198


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    hsa-miR-495 hsa-miR-340 hsa-miR-373* hsa-miR-3692 hsa-miR-374a* hsa-miR-511 hsa-miR-9 hsa-miR-1323
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    Inhib. RNA
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    Additional cDNA sequence: 

    AB025105.1 AB025106.1 AK290012.1 AK297913.1 AK309703.1 AK311198.1 AK312551.1 BC013851.1 
    BC141838.1 BC144283.1 BC146662.1 EU709494.1 L08599.1 X12790.1 X52279.1 Z13009.1 
    Z18923.1 

    15 DOTS entries:

    DT.218339  DT.86847981  DT.91769179  DT.40226053  DT.91769199  DT.120670403  DT.100778483  DT.91769188 
    DT.91769192  DT.91769203  DT.91970482  DT.95253807  DT.95321029  DT.100801895  DT.120670391 

    24/391 AceView cDNA sequences (see all 391):

    CB854410 X12790 N85687 BM981473 BI335747 AI459018 BI789185 X52279 
    T58996 BM825567 AI146368 BQ083439 AA603448 AW517069 AL708474 N30761 
    BM822938 T11384 AI864888 AU125850 BM769814 BX439592 AW002816 BI061555 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for CDH1    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16a · 16b ^ 17a · 17b
    SP1:                    -                                               -                       -                                       
    SP2:                    -                                                                       -                                       
    SP3:                    -                                         -     -                       -                                       
    SP4:                                                                                                                                    
    SP5:                                                                                                                                    


    ECgene alternative splicing isoforms for CDH1

    (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

    CDH1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TGTGGGTGCT

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

    About this image

    CDH1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/34 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 34
    Tissue Anatomical Compartment CellCategory (developmental path)
    PancreasDorsal Pancreatic MesenchymeDorsal Pancreatic Mesenchymal CellsMesoderm
    AmnionAmniotic MembraneAmniotic CellsAmnion, Extraembryonic Tissues
    Early Embryo (Zygote)Morula8-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)MorulaMorula CellsEarly Embryo
    Early Embryo (Zygote)Zygote2-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)Zygote4-Cell EmbryoEarly Embryo
    Early Embryo (Zygote)ZygoteZygoteEarly Embryo
    EpiblastEpiblastIntraembryonic Epiblast CellsEarly Embryo
    Gut TubeForegutForegut Endoderm CellsEndoderm
    Gut TubeVentral Foregut EndodermVentral Foregut Endoderm CellsEndoderm
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/16 LifeMap Cells (see all 16
    NameCategory
    CyT203 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    CyT49 (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    mK4 (Cell line)Kidney
    mK3 (Cell line)Kidney
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass
    Primitive Streak Mesendoderm cells (Direct differentiati...)
    Primitive gut tube-like cells (A scalable, suspensi...)
    Mesendoderm-like cells (A scalable, suspensi...)
    Floating aggregates (A scalable, suspensi...)
    Immature hepatocyte-like cells (Hepatocyte-like cell...)

    See CDH1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CDH1

    SOURCE GeneReport for Unigene cluster: Hs.461086

    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
    Tissue specificity: Non-neural epithelial tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including CDH1 (see all 17): 
              Lung Cancer in human mouse rat
              Extracellular Matrix & Adhesion Molecules in human mouse rat
              Adherens Junctions in human mouse rat
              Wound Healing in human mouse rat
              Lymphoma in human mouse rat

    Primer
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CDH1

    (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 CDH1 gene from 4/14 species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves CDH11 cadherin 1, type 1, E-cadherin (epithelial) 64.36(n)
    63.67(a)
      415860  NM_001039258.1  NP_001034347.1 
    lizard
    (Anolis carolinensis)
    Reptilia CDH36
    --
    62(a)
    1 ↔ 1
    GL343914.1(89036-111068)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.74832 Xenopus laevis (clone XTCAD-1) cadherin gene, complete more 71.79(n)    L29057.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cdh12 cadherin 1, epithelial 73.52(n)   114424  AF364811.1 


    ENSEMBL Gene Tree for CDH1 (if available)
    TreeFam Gene Tree for CDH1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CDH1 gene
    CDH42  CDH182  DSG42  CDH32  CDH102  CDH112  CDH62  DSC22  
    CDH82  CDH202  CDH222  DSC12  CDH192  DSG12  CDH72  DSG22  
    CDH92  CDH122  CDH262  DSC32  CDH22  CDH242  CDH152  CDH52  
    DSG32  
    18/29 SIMAP similar genes for CDH1 using alignment to 8 protein entries:     CADH1_HUMAN (see all proteins) (see all similar genes):
    CDH3    CDH2    CDH4    DKFZp434K1130    DKFZp686P18250    CDH15
    ME1    CDH26    Nbla04261    CDH17    CDH13    DSC2
    CDH10    CDH19    CDH7    CDH24    CDH20    DSC1

    CDH1 for paralogs           About GeneDecksing



    (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

    10/1932 NCBI SNPs in CDH1 are shown (see all 1932    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs339351541,2
    C,F,pathogenic54729428(+) TTGATG/ACAGAC 2 /T /A mis116Minor allele frequency- A:0.02NS MN NA WA 5706
    rs1160937411,2
    C,F,probable-pathogenic54719434(+) TCCCTA/GCGTAT 2 T A mis11Minor allele frequency- G:0.01EA 218
    rs355723551,2
    C,probable-pathogenic54740633(+) TGCTCG/ATGTTT 2 /M /V mis17Minor allele frequency- A:0.00NS NA 188
    rs1219648721,2
    Cother54740651(+) AAGGAA/GGCGGT 2 S G mis11Minor allele frequency- G:0.00NA 4550
    rs1157568101,2
    C,F,--54642134(+) GTGTCA/GAATGC 1 -- us2k11Minor allele frequency- G:0.25WA 118
    rs357906031,2
    C,F,H,--54642555(+) ACAGAG/ACATTT 1 -- us2k112Minor allele frequency- A:0.01NS NA 1256
    rs133359801,2
    C,F,A,--54642856(+) tttttA/Taaaaa 1 -- us2k113Minor allele frequency- T:0.04NS MN WA 696
    rs339299801,2
    C,F,--54643012(+) TAGCCG/AGTGTG 1 -- us2k110Minor allele frequency- A:0.01NS MN 576
    rs353445121,2
    C,--54643050(+) TCAATA/CGGCTG 1 -- us2k15Minor allele frequency- C:0.01NS 176
    rs355824631,2
    C,F,--54643108(+) GAGATC/TGTGCC 1 -- us2k15Minor allele frequency- T:0.03NS 176

    HapMap Linkage Disequilibrium report for CDH1 (68771128 - 68869445 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 7 variations for CDH1
         6 CNVs: 67022 9761 67021 77388 77387 5831
         1 Indel: 88182
    Human Gene Mutation Database (HGMD): CDH1

    Locus Specific Mutation Databases (LSDB): CDH1

    5 SABiosciences Cancer Mutation PCR Assays for CDH1:
    Cosmic IdAA Change
    19761p.T399fs*17
    28934p.V82fs*13
    19785p.T263fs*3
    19748p.D370H
    19822p.A634V
    5/6 SABiosciences Cancer Mutation PCR Arrays containing CDH1 (see all 6):
    Breast Cancer
    Lung and Colon Cancers (Expanded Panel) 384HT   
    Cancer Comprehensive Panel 384HT
    APC/CTNNB1 Pathway
    Tumor Suppressor Panel 384HT
    2 SABiosciences qBiomarker Copy Number PCR Arrays containing CDH1:
    Oncogenes & Tumor Suppressor Genes 384HC
    WNT Signaling
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CDH1
    DNA2.0 Custom Variant and Variant Library Synthesis for CDH1

    (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

    CDH1 for disorders           About GeneDecksing

    OMIM gene information: 192090   
    OMIM disorders: 608089  167000  114480  137215  176807  
    UniProtKB/Swiss-Prot: CADH1_HUMAN, P12830
  • Defects in CDH1 are the cause of hereditary diffuse gastric cancer (HDGC) [MIM:137215]. An autosomal dominant
  • cancer predisposition syndrome with increased susceptibility to diffuse gastric cancer. Diffuse gastric cancer is a
    malignant disease characterized by poorly differentiated infiltrating lesions resulting in thickening of the stomach.
    Malignant tumors start in the stomach, can spread to the esophagus or the small intestine, and can extend through the
    stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. Note=Heterozygous
    germline mutations CDH1 are responsible for familial cases of diffuse gastric cancer. Somatic mutations in the has
    also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer
  • Defects in CDH1 are a cause of susceptibility to endometrial cancer (ENDMC) [MIM:608089]
  • Defects in CDH1 are a cause of susceptibility to ovarian cancer (OC) [MIM:167000]. Ovarian cancer common
  • malignancy originating from ovarian tissue. Although many histologic types of ovarian neoplasms have been described,
    epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs
    and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease

    20/243 diseases for CDH1 (see all 243):    About MalaCards
    gastric cancer, familial diffuse, with or without cleft lip and/or palate    cleft lip/palate    open-angle glaucoma    ovarian cancer
    monoclonal gammopathy of undetermined significance    zollinger-ellison syndrome    hailey-hailey disease    lymphoepithelioma-like carcinoma
    alveolar soft part sarcoma    thyroiditis    squamous cell carcinoma    diffuse large b-cell lymphoma
    primary open angle glaucoma    cleft lip    familial adenomatous polyposis    pseudomyxoma peritonei
    pemphigus vulgaris    carcinoma    biphasic synovial sarcoma    renal clear cell carcinoma

    17 diseases from the University of Copenhagen DISEASES database for CDH1:
    Carcinoma     Breast cancer     Colorectal cancer     Prostate cancer
    Lung cancer     Urinary bladder cancer     Hepatocellular carcinoma     Ovarian cancer
    Pancreatic cancer     Adenoma     Stomach cancer     Melanoma
    Ductal carcinoma in situ     Endometrial cancer     Nasopharynx carcinoma     Ureteral disease
    Renal cell carcinoma

    10/96 Novoseek disease relationships for CDH1 gene (see all 96)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    metastasis 85 1015 14580257 (8), 17649807 (7), 16033070 (7), 12508543 (6) (see all 99)
    carcinoma lobular 83 139 9496256 (7), 8256859 (4), 12478484 (3), 10433926 (3) (see all 69)
    tumors 81.9 1887 12712492 (8), 12760799 (6), 19446405 (6), 9306561 (5) (see all 99)
    carcinoma 81.4 647 17649807 (6), 18062285 (5), 16033070 (5), 19253033 (5) (see all 99)
    gastric cancer 79.7 576 10072428 (7), 12908778 (7), 17991318 (6), 15288293 (5) (see all 99)
    cancer 78 660 8507565 (4), 10424737 (4), 15674322 (4), 10994623 (4) (see all 99)
    gastric carcinoma 76.3 247 11313896 (7), 18250063 (6), 15128072 (6), 10408833 (5) (see all 99)
    carcinoma ductal 72.4 92 7534041 (3), 12478484 (3), 17649807 (2), 12168049 (2) (see all 63)
    carcinoma squamous cell 72 272 9301546 (5), 16399195 (5), 8365008 (3), 15899218 (3) (see all 99)
    breast cancer 71.3 484 11597316 (6), 12658921 (6), 17997862 (6), 11912130 (5) (see all 99)

    GeneTests: CDH1
    Hereditary Diffuse Gastric Cancer

    Genetic Association Database (GAD): CDH1
    Human Genome Epidemiology (HuGE) Navigator: CDH1 (113 documents)

    Export disorders for CDH1 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 CDH1 gene, integrated from 9 sources (see all 3571):
    (articles sorted by number of sources associating them with CDH1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of E-cadherin germ-line alterations with prostate cancer. (PubMed id 11705864)1, 2, 4, 9 Ikonen T.... Koivisto P.A. (2001)
    2. Germline mutations in E-cadherin do not explain association of hereditary prostate cancer, gastric cancer and breast cancer. (PubMed id 11948460)1, 4, 9 Jonsson B.A....Gronberg H. (2002)
    3. Calcium influx triggers the sequential proteolysis of extracellular and cytoplasmic domains of E-cadherin, leading to loss of beta-catenin from cell-cell contacts. (PubMed id 10597309)1, 2, 9 Ito K.... Saya H. (1999)
    4. [Association of -160(C-->A) polymorphism in CDH1 gene with gastric cancer risk in Fujian Chinese population] (PubMed id 16215948)1, 4, 9 Song C.G....Huang W. (2005)
    5. Contribution of cyclin d1 (CCND1) and E-cadherin (CDH1) polymorphisms to familial and sporadic colorectal cancer. (PubMed id 11896626)1, 4, 9 Porter T.R....Maher E.R. (2002)
    6. Screening E-cadherin in gastric cancer families reveals germline mutations only in hereditary diffuse gastric cancer kindred. (PubMed id 11968083)1, 2, 9 Oliveira C....Caldas C. (2002)
    7. A germline E-cadherin mutation in a family with gastric and colon cancer. (PubMed id 11562785)1, 2, 9 Salahshor S.... Lindblom A. (2001)
    8. The E-cadherin gene (CDH1) variants T340A and L599V in gastric and colorectal cancer patients in Korea. (PubMed id 10896919)1, 2, 9 Kim H.C.... Bodmer W.F. (2000)
    9. E-cadherin germline mutations in familial gastric cancer. (PubMed id 9537325)1, 2, 9 Guilford P.J.... Reeve A.E. (1998)
    10. Mutations of the human E-cadherin (CDH1) gene. (PubMed id 9744472)1, 2, 9 Berx G.... van Roy F. (1998)

    (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: 999 HGNC: 1748 AceView: CDH1 Ensembl:ENSG00000039068 euGenes: HUgn999
    ECgene: CDH1 Kegg: 999 H-InvDB: CDH1

    (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 CDH1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CDH1 Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CDH1
    NIEHS-SNPshttp://egp.gs.washington.edu/data/cdh1/
    Wikipedia http://en.wikipedia.org/wiki/E-cadherin

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CDH1 gene:
    Search GeneIP for patents involving CDH1

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

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