CDH3

Protein identityUniProt · HPA

UniProt accession

P22223

Gene

CDH3

Ensembl

ENSG00000062038

Chromosome

16

Canonical length

829 aa

Protein class

Disease related genes, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins

Subcellular location

Plasma membrane,Cell Junctions

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

829 residues, UniProt reviewed canonical sequence.

>P22223|CDH3
     1  MGLPRGPLAS LLLLQVCWLQ CAASEPCRAV FREAEVTLEA GGAEQEPGQA LGKVFMGCPG
    61  QEPALFSTDN DDFTVRNGET VQERRSLKER NPLKIFPSKR ILRRHKRDWV VAPISVPENG
   121  KGPFPQRLNQ LKSNKDRDTK IFYSITGPGA DSPPEGVFAV EKETGWLLLN KPLDREEIAK
   181  YELFGHAVSE NGASVEDPMN ISIIVTDQND HKPKFTQDTF RGSVLEGVLP GTSVMQVTAT
   241  DEDDAIYTYN GVVAYSIHSQ EPKDPHDLMF TIHRSTGTIS VISSGLDREK VPEYTLTIQA
   301  TDMDGDGSTT TAVAVVEILD ANDNAPMFDP QKYEAHVPEN AVGHEVQRLT VTDLDAPNSP
   361  AWRATYLIMG GDDGDHFTIT THPESNQGIL TTRKGLDFEA KNQHTLYVEV TNEAPFVLKL
   421  PTSTATIVVH VEDVNEAPVF VPPSKVVEVQ EGIPTGEPVC VYTAEDPDKE NQKISYRILR
   481  DPAGWLAMDP DSGQVTAVGT LDREDEQFVR NNIYEVMVLA MDNGSPPTTG TGTLLLTLID
   541  VNDHGPVPEP RQITICNQSP VRQVLNITDK DLSPHTSPFQ AQLTDDSDIY WTAEVNEEGD
   601  TVVLSLKKFL KQDTYDVHLS LSDHGNKEQL TVIRATVCDC HGHVETCPGP WKGGFILPVL
   661  GAVLALLFLL LVLLLLVRKK RKIKEPLLLP EDDTRDNVFY YGEEGGGEED QDYDITQLHR
   721  GLEARPEVVL RNDVAPTIIP TPMYRPRPAN PDEIGNFIIE NLKAANTDPT APPYDTLLVF
   781  DYEGSGSDAA SLSSLTSSAS DQDQDYDYLN EWGSRFKKLA DMYGGGEDD

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against CDH3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

1

Mean surface accessibility (rSASA)

0.4

Highest tissue expression

52 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about CDH3.

Disease | AllUniProt

Conditions CDH3 is implicated in, by any mechanism.

• Hypotrichosis congenital with juvenile macular dystrophy (HJMD) MIM:601553
• Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome (EEMS) MIM:225280

Disease | GeneticClinVar

56 pathogenic / likely-pathogenic of 838 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Congenital hypotrichosis with juvenile macular dystrophy
• Retinal dystrophy
• EEM syndrome
• Hypotrichosis with juvenile macular dystrophy
• Retinal disorder

Disease | ImmuneIEDB

Conditions an epitope on CDH3 was assayed in.

• skin melanoma T cell
• intrahepatic gall duct cancer T cell
• bile duct cancer T cell
• gallbladder cancer T cell
• pancreatic cancer T cell

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.85

gnomAD pLI

0

gnomAD missense Z

0.08

DepMap mean gene effect

-0.02

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• adherens junction organization
• calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules
• cell adhesion
• cell migration
• cell morphogenesis
• cell-cell adhesion mediated by cadherin
• cell-cell junction assembly
• hair cycle process
• hair follicle maturation
• homophilic cell adhesion via plasma membrane adhesion molecules
• keratinization
• negative regulation of transforming growth factor beta receptor signaling pathway
• positive regulation of canonical Wnt signaling pathway
• positive regulation of insulin-like growth factor receptor signaling pathway
• positive regulation of keratinocyte proliferation
• positive regulation of melanin biosynthetic process
• regulation of transport
• retina homeostasis
• visual perception
• negative regulation of timing of catagen

Molecular functions

• beta-catenin binding
• cadherin binding
• calcium ion binding

Cellular components

• adherens junction
• catenin complex
• cell junction
• cytoplasm
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Cadherin, Y-type LIR-motif
• Cadherin-like
• Cadherin prodomain
• Cadherin-like superfamily
• Cadherin conserved site
• Catenin binding domain superfamily
• Cadherin
• Cadherin domain
• Cadherin, Y-type LIR-motif

KeywordsUniProt

• Calcium
• Cell adhesion
• Cell membrane
• Cleavage on pair of basic residues
• Ectodermal dysplasia
• Glycoprotein
• Hypotrichosis
• Membrane
• Metal-binding
• Repeat
• Sensory transduction
• Signal
• Transmembrane
• Transmembrane helix
• Vision

InteractionsUniProt · HPA

Protein binding partners of CDH3 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• CDCP1
• CTNNB1