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CDH1 Gene(Protein Coding)

Cadherin 1

GCID:
GC16P068737
GIFtS:
62
Genes Participants
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Aliases for CDH1 Gene

Aliases for CDH1 Gene

  • Cadherin 1 2 3 5
  • Cadherin 1, Type 1, E-Cadherin (Epithelial) 2 3
  • Epithelial Cadherin 3 4
  • E-Cadherin 2 4
  • CAM 120/80 3 4
  • Uvomorulin 3 4
  • CDHE 3 4
  • UVO 3 4
  • Calcium-Dependent Adhesion Protein, Epithelial 3
  • Cadherin 1, E-Cadherin (Epithelial) 3
  • Cell-CAM 120/80 3
  • CD324 Antigen 4
  • E-Cadherin 1 3
  • Cadherin-1 3
  • BCDS1 3
  • Arc-1 3
  • CD324 3
  • ECAD 3
  • LCAM 3

External Ids for CDH1 Gene

Previous HGNC Symbols for CDH1 Gene

  • UVO

Previous GeneCards Identifiers for CDH1 Gene

  • GC16P059456
  • GC16P069148
  • GC16P068506
  • GC16P068547
  • GC16P067328
  • GC16P068771
  • GC16P054643

Summaries for CDH1 Gene

Entrez Gene Summary for CDH1 Gene

  • This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is 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 of this gene is thought to contribute to cancer progression 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. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

CIViC summary for CDH1 Gene

GeneCards Summary for CDH1 Gene

CDH1 (Cadherin 1) is a Protein Coding gene. Diseases associated with CDH1 include Gastric Cancer, Hereditary Diffuse and Blepharocheilodontic Syndrome 1. Among its related pathways are PAK Pathway and ERK Signaling. Gene Ontology (GO) annotations related to this gene include calcium ion binding and protein phosphatase binding. An important paralog of this gene is CDH3.

UniProtKB/Swiss-Prot for CDH1 Gene

  • Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). 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 (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.

  • 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 Gene

Additional gene information for CDH1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH1 Gene

Genomics for CDH1 Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for CDH1 Gene

Promoters and enhancers for CDH1 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH16I068736 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE dbSUPER 558.4 +4.8 4768 10.6 PKNOX1 CLOCK FOXA2 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 IRF4 CDH1 RNA5SP429 GC16P068743 NFAT5 ZFP90 SNTB2 RANBP10 CHTF8 EDC4 ENSG00000263276
GH16I068789 Enhancer 1.4 Ensembl ENCODE dbSUPER 23.8 +54.8 54761 5.4 ATF1 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 SLC30A9 RXRA CDH1 ZFP90 RNU4-36P FTLP14 RNA5SP429 GC16P068743
GH16I068785 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.2 +49.6 49587 1.8 ELF3 FOXA2 ARID4B DMAP1 DNMT3B ZSCAN9 RAD21 RARA ETS1 YY1 ZFP90 TANGO6 CDH1 RNU4-36P ENSG00000252040 ENSG00000252640 FTLP14 GC16P068743 RNA5SP429
GH16I068776 Enhancer 1.1 Ensembl ENCODE dbSUPER 12.1 +39.8 39806 1.4 EBF1 IRF4 RELA ZNF121 ZNF664 ATF7 ETV6 BCLAF1 IKZF2 RUNX3 ZFP90 CDH1 RNU4-36P THAP11 RNA5SP429 GC16P068743 FTLP14
GH16I068731 Enhancer 1.4 Ensembl ENCODE dbSUPER 8.8 -4.0 -4005 3.3 CLOCK FOXA2 MLX ARID4B DMAP1 ZNF48 TCF12 ZNF766 GATA2 KLF7 ZFP90 CDH1 GC16P068724
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around CDH1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CDH1 gene promoter:

Genomic Locations for CDH1 Gene

Genomic Locations for CDH1 Gene
chr16:68,737,225-68,835,548
(GRCh38/hg38)
Size:
98,324 bases
Orientation:
Plus strand
chr16:68,771,128-68,869,451
(GRCh37/hg19)

Genomic View for CDH1 Gene

Genes around CDH1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CDH1 Gene

Proteins for CDH1 Gene

Products:

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  2. Protein
  3. Assay

  • Protein details for CDH1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P12830-CADH1_HUMAN
    Recommended name:
    Cadherin-1
    Protein Accession:
    P12830
    Secondary Accessions:
    • A8K1U7
    • Q13799
    • Q14216
    • Q15855
    • Q16194
    • Q4PJ14
    • Q9UII8

    Protein attributes for CDH1 Gene

    Size:
    882 amino acids
    Molecular mass:
    97456 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:11856755). 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 (PubMed:16126725, PubMed:7982500). Interacts with the TRPV4 and CTNNB1 complex (By similarity). Interacts with CTNND1 (PubMed:15240885). The stable association of CTNNA1 is controversial as CTNNA1 was shown not to bind to F-actin when assembled in the complex (By similarity). Alternatively, the CTNNA1-containing complex may be linked to F-actin by other proteins such as LIMA1 (By similarity). Interaction with PSEN1, cleaves CDH1 resulting in the disassociation of cadherin-based adherens junctions (CAJs) (PubMed:11226248, PubMed:16126725). Interacts with AJAP1 and DLGAP5 (PubMed:14699157, PubMed:14595118). Interacts with TBC1D2 (PubMed:20116244). Interacts with LIMA1 (PubMed:18093941). Interacts with CAV1. Interacts with PIP5K1C (PubMed:17261850). Interacts with RAB8B (By similarity). Interacts with RAPGEF2 (By similarity). Interacts with DDR1; this stabilizes CDH1 at the cell surface and inhibits its internalization (PubMed:20432435). Interacts with KLRG1 (PubMed:19604491).
    SequenceCaution:
    • Sequence=AAA61259.1; Type=Frameshift; Positions=16, 22, 25, 28, 31, 34, 52, 67, 73, 76, 94, 102, 633, 636; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for CDH1 Gene

    Alternative splice isoforms for CDH1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH1 Gene

Protein Expression for CDH1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CDH1 Gene

  • 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 junctions.
  • N-glycosylation at Asn-637 is essential for expression, folding and trafficking.
  • Ubiquitinated by a SCF complex containing SKP2, which requires prior phosphorylation by CK1/CSNK1A1. Ubiquitinated by CBLL1/HAKAI, requires prior phosphorylation at Tyr-754.
  • Glycosylation at Thr217, Asn558, Asn570, posLast=622622, and posLast=637637
  • Modification sites at PhosphoSitePlus

Other Protein References for CDH1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for CDH1 Gene

Domains & Families for CDH1 Gene

Gene Families for CDH1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for CDH1 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for CDH1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P12830

UniProtKB/Swiss-Prot:

CADH1_HUMAN :
  • 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.
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.
genes like me logo Genes that share domains with CDH1: view

Function for CDH1 Gene

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Molecular function for CDH1 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot Function:
Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). 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 (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7.
UniProtKB/Swiss-Prot Function:
E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production.
UniProtKB/Swiss-Prot Induction:
Expression is repressed by MACROD1.

Phenotypes From GWAS Catalog for CDH1 Gene

Gene Ontology (GO) - Molecular Function for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 11401320
GO:0008013 beta-catenin binding IDA 17620337
GO:0030506 ankyrin binding IPI 17620337
GO:0032794 GTPase activating protein binding IPI 20116244
genes like me logo Genes that share ontologies with CDH1: view
genes like me logo Genes that share phenotypes with CDH1: view

Human Phenotype Ontology for CDH1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH1 Gene

MGI Knock Outs for CDH1:

Animal Model Products

Clone Products

  • Addgene plasmids for CDH1

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDH1 Gene

Localization for CDH1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH1 Gene

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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CDH1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 5
golgi apparatus 5
endosome 5
nucleus 3
cytosol 3
peroxisome 2
mitochondrion 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (3)
  • Golgi apparatus (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005802 trans-Golgi network IMP 17620337
genes like me logo Genes that share ontologies with CDH1: view

Pathways & Interactions for CDH1 Gene

genes like me logo Genes that share pathways with CDH1: view

SIGNOR curated interactions for CDH1 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for CDH1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA,NAS 8033105
GO:0007416 synapse assembly IEA --
GO:0009636 response to toxic substance IEA --
GO:0010033 response to organic substance IEA --
genes like me logo Genes that share ontologies with CDH1: view

Drugs & Compounds for CDH1 Gene

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(74) Drugs for CDH1 Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
Combretastatin-A4 phosphate Pharma Vascular disrupting agents (VDA) 0

(68) Additional Compounds for CDH1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDH1: view

Transcripts for CDH1 Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for CDH1 Gene

(6) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(391) Selected AceView cDNA sequences:
(14) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CDH1 Gene

Cadherin 1, type 1, E-cadherin (epithelial):
Representative Sequences:

Clone Products

  • Addgene plasmids for CDH1

Alternative Splicing Database (ASD) splice patterns (SP) for CDH1 Gene

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:

Relevant External Links for CDH1 Gene

GeneLoc Exon Structure for
CDH1
ECgene alternative splicing isoforms for
CDH1

Expression for CDH1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDH1 Gene

mRNA expression in normal human tissues for CDH1 Gene
mRNA expression by GTEx for CDH1 GenemRNA expression by BioGPS for CDH1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH1 Gene

This gene is overexpressed in Esophagus - Mucosa (x6.0), Colon - Transverse (x5.4), Pancreas (x4.9), and Minor Salivary Gland (x4.0).

Protein differential expression in normal tissues from HIPED for CDH1 Gene

This gene is overexpressed in Urine (18.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CDH1 Gene



NURSA nuclear receptor signaling pathways regulating expression of CDH1 Gene:

CDH1

SOURCE GeneReport for Unigene cluster for CDH1 Gene:

Hs.461086

mRNA Expression by UniProt/SwissProt for CDH1 Gene:

P12830-CADH1_HUMAN
Tissue specificity: Non-neural epithelial tissues.

Evidence on tissue expression from TISSUES for CDH1 Gene

  • Liver(4.7)
  • Pancreas(4.6)
  • Nervous system(4.5)
  • Intestine(4.4)
  • Lung(3.7)
  • Stomach(3.7)
  • Kidney(3.5)
  • Skin(3.5)
  • Lymph node(3.2)
  • Thyroid gland(3)
  • Muscle(2.4)
  • Blood(2.3)
  • Gall bladder(2.2)
  • Heart(2.1)
  • Spleen(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • digestive
  • immune
  • integumentary
  • reproductive
  • skeletal muscle
Regions:
Thorax:
  • breast
Abdomen:
  • stomach
Pelvis:
  • ovary
  • testicle
  • uterus
genes like me logo Genes that share expression patterns with CDH1: view

No data available for Protein tissue co-expression partners for CDH1 Gene

Orthologs for CDH1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia CDH1 33 34
  • 99.24 (n)
dog
(Canis familiaris)
 Mammalia CDH1 33 34
  • 84.24 (n)
cow
(Bos Taurus)
 Mammalia CDH1 33
  • 83.11 (n)
E-CADHERIN 34
  • 83 (a)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Cdh1 33
  • 80.02 (n)
mouse
(Mus musculus)
 Mammalia Cdh1 33 16 34
  • 79.6 (n)
oppossum
(Monodelphis domestica)
 Mammalia CDH1 34
  • 76 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia CDH1 34
  • 73 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves CDH1 33 34
  • 64.21 (n)
tropical clawed frog
(Silurana tropicalis)
 Amphibia LOC100485633 33
  • 59.67 (n)
Str.3002 33
African clawed frog
(Xenopus laevis)
 Amphibia Xl.7483 33
zebrafish
(Danio rerio)
 Actinopterygii cdh1 33 34
  • 57.33 (n)
si:ch211-206i14.2 34
  • 46 (a)
 ManyToMany
si:dkey-173l11.5 34
  • 44 (a)
 ManyToMany
si:dkey-30c15.12 34
  • 44 (a)
 ManyToMany
si:dkey-173l11.3 34
  • 41 (a)
 ManyToMany
Species where no ortholog for CDH1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDH1 Gene

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

Paralogs for CDH1 Gene

Variants for CDH1 Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for CDH1 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1001200905 uncertain-significance, Hereditary diffuse gastric cancer 68,828,240(+) C/T coding_sequence_variant, missense_variant
rs1003012321 uncertain-significance, Hereditary cancer-predisposing syndrome 68,822,132(+) A/G 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1028765743 uncertain-significance, Hereditary cancer-predisposing syndrome 68,822,174(+) G/C 5_prime_UTR_variant, coding_sequence_variant, missense_variant
rs1042391377 uncertain-significance, Hereditary diffuse gastric cancer 68,738,303(+) T/G 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant
rs1048961107 uncertain-significance, Hereditary diffuse gastric cancer 68,834,548(+) A/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for CDH1 Gene

Variant ID Type Subtype PubMed ID
dgv847e212 CNV gain 25503493
esv25425 CNV loss 19812545
esv2661913 CNV deletion 23128226
esv2714658 CNV deletion 23290073
esv2761911 CNV loss 21179565
esv29196 CNV gain 19812545
esv3582281 CNV loss 25503493
esv3638910 CNV loss 21293372
esv3638911 CNV gain 21293372
esv3638912 CNV gain 21293372
esv3638913 CNV gain 21293372
esv3638914 CNV gain 21293372
esv3638915 CNV loss 21293372
nsv103068 CNV deletion 16902084
nsv457515 CNV gain 19166990
nsv572908 CNV gain 21841781
nsv572910 CNV loss 21841781
nsv817735 CNV gain 17921354
nsv833267 CNV gain 17160897

Variation tolerance for CDH1 Gene

Residual Variation Intolerance Score: 16.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.41; 42.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CDH1 Gene

Human Gene Mutation Database (HGMD)
CDH1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH1 Gene

Disorders for CDH1 Gene

MalaCards: The human disease database

(125) MalaCards diseases for CDH1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
gastric cancer, hereditary diffuse
  • hdgc
blepharocheilodontic syndrome 1
  • bcds1
breast cancer
  • breast cancer, familial
endometrial cancer
  • endometrial cancer, familial
ovarian cancer
  • ovarian cancer, somatic
- elite association - COSMIC cancer census association via MalaCards
Search CDH1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CADH1_HUMAN
  • Blepharocheilodontic syndrome 1 (BCDS1) [MIM:119580]: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals. {ECO:0000269 PubMed:28301459}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Breast cancer, lobular (LBC) [MIM:137215]: A type of breast cancer that begins in the milk-producing glands (lobules) of the breast. {ECO:0000269 PubMed:17660459}. Note=The gene represented in this entry may be involved in disease pathogenesis.
  • Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
  • Hereditary diffuse gastric cancer (HDGC) [MIM:137215]: A 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. {ECO:0000269 PubMed:10319582, ECO:0000269 PubMed:12216071}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Heterozygous CDH1 germline mutations are responsible for familial cases of diffuse gastric cancer. Somatic mutations has also been found in patients with sporadic diffuse gastric cancer and lobular breast cancer.
  • Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors 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. {ECO:0000269 PubMed:8075649}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for CDH1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with CDH1: view

No data available for Genatlas for CDH1 Gene

Publications for CDH1 Gene

  1. Polymorphisms in E-cadherin (CDH1) result in a mis-localised cytoplasmic protein that is associated with Crohn's disease. (PMID: 19398441) Muise AM … Rotin D (Gut 2009) 3 22 44 58
  2. Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma. (PMID: 19551141) Ricketts C … Maher ER (PloS one 2009) 3 22 44 58
  3. Promoter-hypermethylation associated defective expression of E-cadherin in primary non-small cell lung cancer. (PMID: 18468719) Wang G … Luo ZW (Lung cancer (Amsterdam, Netherlands) 2008) 3 22 44 58
  4. Germline E-cadherin mutations in familial lobular breast cancer. (PMID: 17660459) Masciari S … Huntsman D (Journal of medical genetics 2007) 3 4 44 58
  5. Human homolog of disc-large is required for adherens junction assembly and differentiation of human intestinal epithelial cells. (PMID: 14699157) Laprise P … Rivard N (The Journal of biological chemistry 2004) 3 4 22 58

Products for CDH1 Gene

  • Addgene plasmids for CDH1