EDARADD - EDAR associated death domain Gene

Also Known as ED3; EDA3; ECTD11A; ECTD11B

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 128178

About EDARADD

Cytogenetic location: 1q42.3-q43 Genomic coordinates (GRCh38): 1:236,394,286-236,484,930 (from NCBI)

This gene has 5 transcripts (splice variants), 88 orthologues and is associated with 7 phenotypes. Ubiquitous expression in urinary bladder (RPKM 9.3), kidney (RPKM 6.2) and 25 other tissues.

Summary

This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and Other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]

EDARADD Products (2)

mRNA	Protein	Name
NM_080738.4	NP_542776.1	ectodysplasin-A receptor-associated adapter protein isoform B
NM_145861.4	NP_665860.2	ectodysplasin-A receptor-associated adapter protein isoform A

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EDARADD Protein Structure

Death

0
100
200
215 a.a.

Protein Preferred Names	Protein Names
ectodysplasin-A receptor-associated adapter protein	EDAR-associated death domain protein

EDARADD Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Prey Pooling	25416956
Intra	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	SUMO1P1	Homo sapiens	G2XKQ0	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	RNF111	Homo sapiens	Q6ZNA4	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	RNF111	Homo sapiens	Q6ZNA4	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	TRAF6	Homo sapiens	Q9Y4K3	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	SHPRH	Homo sapiens	Q149N8	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	SDCBP	Homo sapiens	O00560	Y2H Prey Pooling	25416956
Intra	EDARADD	Q8WWZ3	NTAQ1	Homo sapiens	Q96HA8	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	NTAQ1	Homo sapiens	Q96HA8	Y2H Array	31515488
Intra	EDARADD	Q8WWZ3	SUMO1	Homo sapiens	P63165	Y2H Array	25416956
Intra	EDARADD	Q8WWZ3	UBE2I	Homo sapiens	P63279	Validated Y2H	25416956
Intra	EDARADD	Q8WWZ3	UBE2I	Homo sapiens	P63279	Y2H Array	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	ECTD11B Hed Eda Ectodermal Dysplasia 11b Ectodermal Dysplasia, Hypohidrotic Ectodermal Dysplasia, Anhidrotic Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 11b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	ECTD11A Hed Ectodermal Dysplasia 11a Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant Ectodermal Dysplasia 11a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant Ectodermal Dysplasia Hypohidrotic Autosomal Dominant Dysplasia, Ectodermal, Type 11a, Hypohidrotic/Hair/Tooth, Autosomal Dominant
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	ECTD10A Hed Ectodermal Dysplasia 10a Ectodermal Dysplasia Hypohidrotic Autosomal Dominant Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant Hypohidrotic Ectodermal Dysplasia Autosomal Dominant Ad-Hed Autosomal Dominant Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia 3 Ed3 Eda3 Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant Dysplasia, Ectodermal, Type 3
Hypohidrotic Ectodermal Dysplasia Autosomal Recessive	Anhidrotic Ectodermal Dysplasia, Autosomal Recessive Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Ar-Hed Autosomal Recessive Anhidrotic Ectodermal Dysplasia Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Anodontia	Complete Absence Of Teeth Developmental Absence Of Tooth Total Anodontia Of Permanent And Deciduous Teeth Absence Of Permanent Teeth Anodontia Of Permanent Dentition Agomphiasis Agomphosis Anodontism Complete Developmental Absence Of Teeth Congenital Absence Of Teeth Congenital Complete Absence Of Teeth Congenital Edentia Absence Of Teeth Absent Teeth Congenital Partial Absence Of Teeth Partial Absence Of Teeth Partial Anodontia
Schopf-Schulz-Passarge Syndrome	SSPS Eccrine Tumors With Ectodermal Dysplasia Eccrine Tumors-Ectodermal Dysplasia Keratosis Palmoplantaris-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Palmoplantar Hyperkeratosis-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Palmoplantar Keratoderma-Cystic Eyelids-Hypodontia-Hypotrichosis Syndrome Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia, And Hypotrichosis Keratosis Palmoplantaris With Cystic Eyelids, Hypodontia And Hypotrichosis
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Christ-Siemens-Touraine Syndrome XHED Ectodermal Dysplasia 1 Xlhed Ed1 Cst Syndrome Ectodermal Dysplasia 1, Hypohidrotic/Hair/Tooth Type, X-Linked Ectd1 Ectodermal Dysplasia, Anhidrotic, X-Linked Eda Eda1 Hed1 Ectodermal Dysplasia 1, Anhidrotic X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia Hypohidrotic X-Linked Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic, 1 Hypohidrotic Ectodermal Dysplasia, X-Linked Anhidrotic Ectodermal Dysplasia X-Linked Hypohidrotic Ectodermal Dysplasia X-Linked Ectodermal Dysplasia 1 Hypohidrotic/Hair/Tooth Type X-Linked Ectodermal Dysplasia Anhidrotic
Sweat Gland Disease	Sweat Gland Diseases
Ectodermal Dysplasia 10b	Ectd10b Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive
Combined Oxidative Phosphorylation Deficiency 5	COXPD5 Hypotonia With Lactic Acidemia And Hyperammonemia Combined Oxidative Phosphorylation Defect Type 5 Combined Oxidative Phosphorylation Deficiency, Type 5
Hypotrichosis
Miliaria Profunda	Icd10cm:L74.2 Snomedct_us_2020_03_01:47317002
Anhidrosis	Hypohidrosis Absence Of Sweating Adiaphoresis Impaired Sweating Oligohidrosis
Pompholyx	Dyshidrosis Vesicular Eczema Of Hands And/Or Feet Cheiropompholyx Dyshydrotic Eczema Eczema, Dyshidrotic Vesicular Hand Eczema
Gapo Syndrome	GAPOS Growth Retardation, Alopecia, Pseudoanodontia, And Optic Atrophy Growth Delay-Alopecia-Pseudoanodontia-Optic Atrophy Syndrome Growth Retardation, Alopecia, Pseudoanodontia And Optic Atrophy
Ectodermal Dysplasia 4, Hair/Nail Type	Pure Hair And Nail Ectodermal Dysplasia ECTD4 Ectodermal Dysplasia, Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair/Nail Type Hned Hair-Nail Ectodermal Dysplasia Phned Ectodermal Dysplasia Pure Hair-Nail Type Ectodermal Dysplasia, 'Pure' Hair-Nail Type Dysplasia, Ectodermal, Type 4, Hair/Nail
Atrophic Rhinitis	Rhinitis, Atrophic Ozena Rhinitis Sicca Dry Rhinitis Ozaena
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04154	EDARADD Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	EDARADD	VGNC	VGNC:40191
Bos taurus	EDARADD	VGNC	VGNC:28319
Macaca mulatta	EDARADD	VGNC	VGNC:72043
Rattus norvegicus	EDARADD	RGD	RGD:1564010
Mus musculus	EDARADD	MGD	MGI:1931001
Others	EDARADD	NCBI