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FLASH GENE

Symbol

EDARADD

contributors: mct - updated : 31-08-2016

HGNC name	EDAR-associated death domain
HGNC id	14341

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	HEDAD ectodermal dysplasia, anhidrotic
Location	1q42.3      Physical location : 236.557.679 - 236.648.008
Synonym name	ectodysplasin A receptor associated adapter protein
	crinkled homolog
Synonym symbol(s)	EDAD

DNA

TYPE	functioning gene
STRUCTURE	90.33 kb     6 Exon(s)

Genomic sequence alignment details
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_080738 6 splicing 2891 236 205 - 2002 11882293 NM_145861 6 splicing 2772 24.8 215 - 2002 11882293 EDARADD variant A

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 tooth         Reproductive female system uterus cervix     Skin/Tegument skin           skin appendages hair

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Muscular striatum skeletal     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol   epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal, pregnancy

Text	placenta, developing skin, hair follicle

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N terminal region comprising the TRAF interaction consensus sequence
	a C terminal DEATH domain

HOMOLOGY

interspecies

homolog to murine Edaradd

Homologene

FAMILY

enolase family

CATEGORY

adaptor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
text	coexpressed with EDAR

basic FUNCTION	interacting with EDAR death domain, coupling the receptor to EDA signaling pathway during morphogenesis of ectodermal organs and mediating activation of NFKB, possibly by recruiting TRAF2 to the receptor-signaling complex
	playing a role as a downstream effector in EDAR signaling

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

PHYSIOLOGICAL PROCESS

development

text	skin and appendages

PATHWAY

metabolism

signaling

signal transduction

signaling pathway towards NF-kappa B

a component

INTERACTION

DNA

RNA

small molecule

protein	TRAF1, TRAF2, TRAF3
	interacting with EDAR
	essential role of interaction between EDAR and EDARADD in ectodermal development

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

HEDAD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

murine crinkled (Cr) phenotypically identical to Tabby and downless