Free for academic non-profit institutions. Other users need a Commercial license

Aliases for CDH3 Gene

Aliases for CDH3 Gene

  • Cadherin 3 2 3 5
  • Cadherin 3, Type 1, P-Cadherin (Placental) 2 3
  • CDHP 3 4
  • Calcium-Dependent Adhesion Protein, Placental 3
  • Cadherin 3, P-Cadherin (Placental) 2
  • Placental Cadherin 4
  • Cadherin-3 3
  • P-Cadherin 4
  • HJMD 3
  • PCAD 3

External Ids for CDH3 Gene

Previous GeneCards Identifiers for CDH3 Gene

  • GC16P059362
  • GC16P069056
  • GC16P068414
  • GC16P068454
  • GC16P067236
  • GC16P054551

Summaries for CDH3 Gene

Entrez Gene Summary for CDH3 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. This gene is located in a gene 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 are associated with hypotrichosis with juvenile macular dystrophy and ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS). [provided by RefSeq, Nov 2015]

GeneCards Summary for CDH3 Gene

CDH3 (Cadherin 3) is a Protein Coding gene. Diseases associated with CDH3 include Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy and Hypotrichosis, Congenital, With Juvenile Macular Dystrophy. Among its related pathways are Cell junction organization and Adhesion. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is CDH1.

UniProtKB/Swiss-Prot for CDH3 Gene

  • 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

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CDH3 Gene

Genomics for CDH3 Gene

Regulatory Elements for CDH3 Gene

Enhancers for CDH3 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16G068655 1.4 Ensembl ENCODE dbSUPER 12.5 +22.6 22623 5.8 FOXA2 NFIB INSM2 RAD21 ZBTB40 ZNF121 ELK1 ZSCAN5C SMARCC2 FOS ACD CDH3 ENSG00000252640 ENSG00000252040 TERF2 RNU4-36P SLC7A6OS ENSG00000259797 ZFP90 GFOD2
GH16G068797 1.4 Ensembl ENCODE dbSUPER 10.8 +164.4 164365 5.2 ELF3 ARID4B DNMT3B RAD21 RFX5 ZNF143 MIXL1 ZNF654 ZNF680 REST UTP4 ZFP90 RNU4-36P ENSG00000252640 ENSG00000252040 CDH3 TANGO6 PRMT7 FTLP14 RNA5SP429
GH16G068663 1.2 FANTOM5 ENCODE dbSUPER 12.4 +30.5 30473 6.7 NFIB RNF2 JUNB MAFG FOXA1 MAFF ZNF316 JUND GATA3 EGR1 ZFP90 CDH3 ENSG00000252040 ENSG00000252640 CDH1 ESRP2 LOC100418868 HSPE1P5
GH16G068642 1.4 Ensembl ENCODE dbSUPER 5.1 +9.3 9337 6.9 THRB ZBTB7B GLIS2 RCOR1 SMARCA5 SP3 NFYC CEBPB ZNF843 PRDM6 ZFP90 CDH3 ENSG00000260577
GH16G068675 0.6 ENCODE dbSUPER 11.9 +40.2 40169 0.8 THRB CDH3 RNU4-36P HSPE1P5 LOC100418868
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CDH3 on UCSC Golden Path with GeneCards custom track

Genomic Location for CDH3 Gene

Chromosome:
16
Start:
68,636,189 bp from pter
End:
68,727,577 bp from pter
Size:
91,389 bases
Orientation:
Plus strand

Genomic View for CDH3 Gene

Genes around CDH3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CDH3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CDH3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CDH3 Gene

Proteins for CDH3 Gene

  • Protein details for CDH3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22223-CADH3_HUMAN
    Recommended name:
    Cadherin-3
    Protein Accession:
    P22223
    Secondary Accessions:
    • B2R6F4
    • Q05DI6

    Protein attributes for CDH3 Gene

    Size:
    829 amino acids
    Molecular mass:
    91418 Da
    Quaternary structure:
    • Interacts with CDCP1 and CTNNB1.

    Three dimensional structures from OCA and Proteopedia for CDH3 Gene

    Alternative splice isoforms for CDH3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CDH3 Gene

Post-translational modifications for CDH3 Gene

  • Glycosylation at Asn200 and Asn566
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for CDH3 (CDH3)

No data available for DME Specific Peptides for CDH3 Gene

Domains & Families for CDH3 Gene

Gene Families for CDH3 Gene

Suggested Antigen Peptide Sequences for CDH3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P22223

UniProtKB/Swiss-Prot:

CADH3_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 CDH3: view

Function for CDH3 Gene

Molecular function for CDH3 Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CDH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with CDH3: view
genes like me logo Genes that share phenotypes with CDH3: view

Human Phenotype Ontology for CDH3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CDH3 Gene

MGI Knock Outs for CDH3:

Animal Model Products

miRNA for CDH3 Gene

miRTarBase miRNAs that target CDH3

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CDH3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CDH3 Gene

Localization for CDH3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CDH3 Gene

Cell membrane; Single-pass type I membrane protein.

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 CDH3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytosol 2
peroxisome 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for CDH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005913 cell-cell adherens junction IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with CDH3: view

Pathways & Interactions for CDH3 Gene

genes like me logo Genes that share pathways with CDH3: view

Pathways by source for CDH3 Gene

1 Sino Biological pathway for CDH3 Gene
1 Cell Signaling Technology pathway for CDH3 Gene
1 BioSystems pathway for CDH3 Gene

Gene Ontology (GO) - Biological Process for CDH3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001895 retina homeostasis IMP 23143461
GO:0007155 cell adhesion TAS 2793940
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0007601 visual perception IEA --
GO:0010628 positive regulation of gene expression IMP 23334344
genes like me logo Genes that share ontologies with CDH3: view

No data available for SIGNOR curated interactions for CDH3 Gene

Drugs & Compounds for CDH3 Gene

(5) Drugs for CDH3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for CDH3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CDH3: view

Transcripts for CDH3 Gene

Unigene Clusters for CDH3 Gene

Cadherin 3, type 1, P-cadherin (placental):
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CDH3

Alternative Splicing Database (ASD) splice patterns (SP) for CDH3 Gene

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:

Relevant External Links for CDH3 Gene

GeneLoc Exon Structure for
CDH3
ECgene alternative splicing isoforms for
CDH3

Expression for CDH3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CDH3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CDH3 Gene

This gene is overexpressed in Ovary (x7.9), Esophagus - Mucosa (x6.5), and Minor Salivary Gland (x4.4).

Protein differential expression in normal tissues from HIPED for CDH3 Gene

This gene is overexpressed in Esophagus (22.8), Ovary (18.2), Islet of Langerhans (14.1), and Uterus (10.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CDH3 Gene



NURSA nuclear receptor signaling pathways regulating expression of CDH3 Gene:

CDH3

SOURCE GeneReport for Unigene cluster for CDH3 Gene:

Hs.191842

mRNA Expression by UniProt/SwissProt for CDH3 Gene:

P22223-CADH3_HUMAN
Tissue specificity: Expressed in some normal epithelial tissues and in some carcinoma cell lines.

Evidence on tissue expression from TISSUES for CDH3 Gene

  • Skin(4.5)
  • Nervous system(4.3)
  • Lung(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CDH3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • mouth
  • scalp
  • skull
  • tooth
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • peripheral nervous system
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with CDH3: view

Primer Products

No data available for Protein tissue co-expression partners for CDH3 Gene

Orthologs for CDH3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CDH3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CDH3 34 35
  • 99.44 (n)
cow
(Bos Taurus)
Mammalia CDH3 34 35
  • 87.25 (n)
dog
(Canis familiaris)
Mammalia CDH3 34 35
  • 86.19 (n)
rat
(Rattus norvegicus)
Mammalia Cdh3 34
  • 82.82 (n)
mouse
(Mus musculus)
Mammalia Cdh3 34 16 35
  • 82.5 (n)
oppossum
(Monodelphis domestica)
Mammalia CDH3 35
  • 76 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CDH3 35
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves CDH3 34 35
  • 69.55 (n)
lizard
(Anolis carolinensis)
Reptilia CDH3 35
  • 52 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.34061 34
zebrafish
(Danio rerio)
Actinopterygii cdh1 35
  • 46 (a)
ManyToMany
si:ch211-206i14.2 35
  • 43 (a)
ManyToMany
si:dkey-30c15.12 35
  • 41 (a)
ManyToMany
si:dkey-173l11.3 35
  • 36 (a)
ManyToMany
si:dkey-173l11.5 35
  • 36 (a)
ManyToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10910 34
Species where no ortholog for CDH3 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)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CDH3 Gene

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

Paralogs for CDH3 Gene

Variants for CDH3 Gene

Sequence variations from dbSNP and Humsavar for CDH3 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121434542 Pathogenic, Hypotrichosis congenital with juvenile macular dystrophy (HJMD) [MIM:601553] 68,685,288(+) CGACC(A/G)TGAGG reference, missense
rs121434543 Pathogenic, Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [MIM:225280] 68,681,065(+) TGCCA(A/G/T)TGACA reference, missense
rs724159984 Pathogenic 68,681,081(+) CCCAT(-/G)TTTGA reference, frameshift-variant
rs724159985 Pathogenic 68,679,937(+) CACAG(-/G)CACCA reference, frameshift-variant
rs755910254 Pathogenic 68,682,390(+) AGCGT(A/G)GCGTG reference, stop-gained

Structural Variations from Database of Genomic Variants (DGV) for CDH3 Gene

Variant ID Type Subtype PubMed ID
esv1005955 CNV deletion 20482838
esv1728945 CNV deletion 17803354
esv2668844 CNV deletion 23128226
esv2714657 CNV deletion 23290073
esv3638908 CNV loss 21293372
esv3638909 CNV gain 21293372
nsv1113816 CNV deletion 24896259
nsv457515 CNV gain 19166990
nsv472312 CNV novel sequence insertion 20440878
nsv572908 CNV gain 21841781
nsv572909 CNV gain 21841781
nsv827712 CNV gain 20364138
nsv833267 CNV gain 17160897
nsv978161 CNV duplication 23825009
nsv984343 CNV duplication 23825009

Variation tolerance for CDH3 Gene

Residual Variation Intolerance Score: 23.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.33; 85.30% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CDH3 Gene

Human Gene Mutation Database (HGMD)
CDH3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CDH3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CDH3 Gene

Disorders for CDH3 Gene

MalaCards: The human disease database

(12) MalaCards diseases for CDH3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
ectodermal dysplasia, ectrodactyly, and macular dystrophy
  • ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
hypotrichosis, congenital, with juvenile macular dystrophy
  • congenital hypotrichosis with juvenile macular dystrophy
hypotrichosis
juvenile macular degeneration and hypotrichosis
  • hjmd
ectodermal dysplasia
- elite association - COSMIC cancer census association via MalaCards
Search CDH3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CADH3_HUMAN
  • Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) [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. {ECO:0000269 PubMed:15805154}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • 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. {ECO:0000269 PubMed:11544476, ECO:0000269 PubMed:12445216}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CDH3

Genetic Association Database (GAD)
CDH3
Human Genome Epidemiology (HuGE) Navigator
CDH3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CDH3
genes like me logo Genes that share disorders with CDH3: view

No data available for Genatlas for CDH3 Gene

Publications for CDH3 Gene

  1. A missense mutation in CDH3, encoding P-cadherin, causes hypotrichosis with juvenile macular dystrophy. (PMID: 12445216) Indelman M. … Sprecher E. (J. Invest. Dermatol. 2002) 3 4 22 64
  2. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P-cadherin. (PMID: 11544476) Sprecher E. … Szargel R. (Nat. Genet. 2001) 3 4 22 64
  3. P-cadherin is a basal cell-specific epithelial marker that is not expressed in prostate cancer. (PMID: 9815605) Jarrard D.F. … Isaacs W.B. (Clin. Cancer Res. 1997) 3 4 22 64
  4. Extracellular cleavage and shedding of P-cadherin: a mechanism underlying the invasive behaviour of breast cancer cells. (PMID: 19901964) Ribeiro A.S. … Paredes J. (Oncogene 2010) 3 22 64
  5. Cadherin switching and activation of p120 catenin signaling are mediators of gonadotropin-releasing hormone to promote tumor cell migration and invasion in ovarian cancer. (PMID: 20118984) Cheung L.W. … Wong A.S. (Oncogene 2010) 3 22 64

Products for CDH3 Gene

  • Addgene plasmids for CDH3

Sources for CDH3 Gene

Content
Loading form....