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FLASH GENE

Symbol

EDAR

contributors: mct/npt - updated : 02-02-2022

HGNC name	ectodysplasin A receptor
HGNC id	2895

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	ED3 ectodermal dysplasia 3, anhidrotic
Location	2q12.3      Physical location : 109.510.930 - 109.605.828
Synonym name	downless murine homolog
	ectodysplasin 1, anhidrotic receptor
	EDA- A1 receptor
	tumor necrosis factor receptor superfamily member EDAR
Synonym symbol(s)	DL, TNFRH, ED5, ED1R, EDA-A1R, ED3, EDA3, EDA1R, ECTD10A, ECTD10B, FLJ94390, EDA3, HRM1

DNA

TYPE	functioning gene
STRUCTURE	94.90 kb     12 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_022336 12 - 4226 NP_071731 48.6 448 - 2005 16251197

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 Cardiovascular heart         Digestive tooth         Reproductive male system prostate       Skin/Tegument skin appendages hair         skin appendages skin gland sweat gland eccrine sweat gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Epithelial secretory glandular exocrine

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	basal cells of the developing epidermis with high expression in placodes

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a signal peptide
	an extracellular N terminal domain with three TNFR-Cys repeats
	a single transmembrane domain
	an intracellular domain with a C terminal DEATH domain

mono polymer

trimer

HOMOLOGY

interspecies

homolog to murine downless

Homologene

FAMILY

tumor necrosis factor receptor family

CATEGORY

signaling , receptor

SUBCELLULAR LOCALIZATION	plasma membrane
text	membrane protein type 1

basic FUNCTION	involved in hair induction and in the process of ectodermal differentiation
	activator of JNK, NFKB and cell caspase-independent cell death pathways
	activating the NF-kappaB pathway together with its downstream adaptator EDARADD (Edar-associated death domain) for the development of hair follicles, teeth, exocrine glands and other ectodermal derivatives
	major genetic determinant of Asian hair thickness
	crucial role of the EDAR signaling in development of hair, teeth, and sweat gland
	EDAR functions as a component of Wnt/CTNNB1 signaling pathway, and is a potential modulator in colorectal carcinogenesis
	is a death receptor in the Tumour Necrosis Factor Receptor (TNFR) superfamily with roles in the development of hair follicles, teeth and cutaneous glands

CELLULAR PROCESS	cell life, differentiation
	cell life, cell death/apoptosis

PHYSIOLOGICAL PROCESS

development

PATHWAY

metabolism

signaling

EDAR and TNFSFR19 signalling pathways act redundantly to regulate initiation of hair follicle development (Pispa 2008)

a component

involvement of the MAP3K7IP2/TRAF6/MAP3K7 signaling complex in the EDAR signal transduction pathway

INTERACTION

DNA

RNA

small molecule

protein	binding EDA
	binding to EDARADD by their DEATH domains
	activating NFKB through IKBKG (NEMO)
	interacting with TRAF family members
	EDAR constrains melanoma progression by acting as a dependence receptor
	essential role of interaction between EDAR and EDARADD in ectodermal development

cell & other

REGULATION

activated by

ED1during hair follicle morphogenesis

induced by

activin B6

ASSOCIATED DISORDERS

corresponding disease(s)

ED3

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in (ER) negative breast carcinomas which display squamous differentiation

Susceptibility

to high ear thickness in Asian people to tooth shoveling

Variant & Polymorphism other	association between the 1540T/C polymorphism of EDAR and hair thickness
	T1540C polymorphism (rs3827760) strongly associated with tooth shoveling in East Asian populations (Kimura 2009)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

murine downless (dl) phenotypically to Tabby and crinked