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FLASH GENE

Symbol

CDH3

contributors: mct/pgu - updated : 25-03-2011

HGNC name	cadherin 3, type 1, P-cadherin (placental)
HGNC id	1762

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	EEM ectodermal dysplasia, ectrodactyly, macular dystrophy HJMD hypotrichosis congenital with juvenile macular dystrophy
Location	16q22.1      Physical location : 68.678.150 - 68.732.957
Synonym name	calcium-dependent adhesion protein placental
	placental cadherin
Synonym symbol(s)	PCADL1, CDHP, PCAD, CAD3, A15C2, HJMD

DNA

TYPE	like-sequence
SPECIAL FEATURE	component of a cluster
text	six-cadherin cluster
STRUCTURE	54.81 kb     16 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see TSG16H

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001793 16 - 4276 NP_001784 - 829 - 1998 9615235

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive mouth gingiva       Endocrine thyroid         Skin/Tegument skin appendages hair follicle     Urinary kidney nephron renal capsule glomerulus   Homo sapiens Visual eye retina

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier lining retinal pigment epithelium (RPE)     Epithelial barrier lining epidermis

cells

System Cell Pubmed Species Stage Rna symbol Endocrine islet cell (alpha,beta...) Skin/Tegument hair follicle cell Skin/Tegument keratinocyte Skin/Tegument melanocyte Urinary podocyte Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	placenta
	predominant expression not only in the hair follicle placode, but also at the apical ectodermal ridge (AER) of the limb bud

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal hydrophobic domain
	five extracellular cadherin repeats with four cysteines in the most proximal (MPED)
	a transmembrane segment (TM)
	a highly conserved cytoplasmic tail required for interactions

conjugated

GlycoP

HOMOLOGY

intraspecies

homolog to cdh1

Homologene

FAMILY

cadherin superfamily of calcium dependent cell-cell adhesion glycoproteins

CATEGORY

adhesion

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane,junction,tight
text	type 1 membrane protein

basic FUNCTION	calcium-dependent cell-cell adhesion glycoprotein involved in cell-cell or cell-ECM interactions,critical for correct location of cells and epithelial tissue integrity
	playing an important role in shaping the hand
	member of cadherin family that forms the transmembrane core of adherens junctions
	playing a crucial role in hair follicle morphogenesis as well as the apical ectodermal ridge during limb bud outgrowth

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

sensory transduction/vision

a component	constituent of transmembrane glycoprotein component of adherens junction
	forming a complex with the catenin
	component of the slit diaphragm apparatus of the glomerular podocyte

INTERACTION

DNA

RNA

small molecule

protein	hemophilic,calcium dependent interactions
	interacting by its C terminus with the cytoskeleton via beta-catenin
	beta-Catenin regulates its expression in mammary basal epithelial cells
	transcriptional target gene of TP63, with a crucial role in hair follicle morphogenesis as well as the AER (apical ectodermal ridge) during limb bud outgrowth

cell & other

REGULATION

repressed by

ZEB2, a transcriptional repressor of CDH1 and CDH3 gene expression

ASSOCIATED DISORDERS

corresponding disease(s)

HJMD , EEM

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral   deletion     loss of a complex formed with the beta-catenin in poorly differentiated esophageal squamous carcinoma tumoral     --over   malignant melanoma tumoral     --over   in breast cancer cells with wild-type CDH1, promotes cell invasion, motility and migration tumoral     --over   by demethylation in advanced colorectal carcinomas

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed cancer endocrine pancreas novel tumor-associated antigen useful for immunotherapy against a broad spectrum of cancers, including pancreatic cancer

ANIMAL & CELL MODELS