EDA - ectodysplasin A Gene

Also Known as ED1; HED; EDA1; EDA2; HED1; ODT1; XHED; ECTD1; XLHED; ED1-A1; ED1-A2; EDA-A1; EDA-A2; TNLG7C; STHAGX1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1896

About EDA

Cytogenetic location: Xq13.1 Genomic coordinates (GRCh38): X:69,616,113-70,039,472 (from NCBI)

This gene has 13 transcripts (splice variants), 203 orthologues, 37 paralogues and is associated with 7 phenotypes. Broad expression in adrenal (RPKM 1.8), thyroid (RPKM 1.7) and 24 other tissues.

Summary

The protein encoded by this gene is a type II membrane protein that can be cleaved by Furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

EDA Products (5)

mRNA	Protein	Name
NM_001005609.2	NP_001005609.1	ectodysplasin-A isoform 2
NM_001005610.4	NP_001005610.2	ectodysplasin-A isoform 3
NM_001005612.3	NP_001005612.2	ectodysplasin-A isoform 5
NM_001005613.4	NP_001005613.1	ectodysplasin-A isoform 6
NM_001399.5	NP_001390.1	ectodysplasin-A isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables cytokine activity	IDA IDA: Inferred from direct assay	11039935	GOA
enables death receptor agonist activity	IMP IMP: Inferred from mutant phenotype	27144394	GOA
enables death receptor binding	IDA IDA: Inferred from direct assay	27144394	GOA
enables death receptor binding	IPI IPI: Inferred from physical interaction	27144394	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11039935	GOA
enables signaling receptor binding	IDA IDA: Inferred from direct assay	11039935	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytokine-mediated signaling pathway	IDA IDA: Inferred from direct assay	11039935	GOA
involved in cytokine-mediated signaling pathway	IMP IMP: Inferred from mutant phenotype	27144394	GOA
involved in odontogenesis of dentin-containing tooth	IMP IMP: Inferred from mutant phenotype	27144394	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	IDA IDA: Inferred from direct assay	11039935	GOA
involved in regulation of non-canonical NF-kappaB signal transduction	IMP IMP: Inferred from mutant phenotype	27144394	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

EDA Protein Structure

Collagen

TNF

0
100
200
300
391 a.a.

Protein Preferred Names	Protein Names
ectodysplasin-A	X-linked anhidroitic ectodermal dysplasia protein

EDA Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Validated Y2H	25416956
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Y2H Array	25416956
Intra	EDA	Q92838	LEPROTL1	Homo sapiens	Q6FHL7	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	NIPAL3	Homo sapiens	Q6P499	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	NIPAL3	Homo sapiens	Q6P499	Y2H Array	25416956
Intra	EDA	Q92838	OSTCL	Homo sapiens	Q8TBU1	Y2H Array	25416956
Intra	EDA	Q92838	OSTCL	Homo sapiens	Q8TBU1	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	SLC38A7	Homo sapiens	Q9NVC3	Validated Y2H	32296183
Intra	EDA	Q92838	OSTC	Homo sapiens	Q9NRP0	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	LPAR3	Homo sapiens	Q9UBY5	Validated Y2H	32296183
Intra	EDA	Q92838	TMEM60	Homo sapiens	Q9H2L4	Validated Y2H	32296183
Intra	EDA	Q92838	EMP3	Homo sapiens	P54852	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	MAL	Homo sapiens	P21145	Y2H Array	25416956
Intra	EDA	Q92838	GIMAP5	Homo sapiens	Q96F15	Validated Y2H	32296183
Intra	EDA	Q92838	GIMAP5	Homo sapiens	Q96F15	Y2H Array	25416956
Intra	EDA	Q92838	PLN	Homo sapiens	P26678	Validated Y2H	25416956
Intra	EDA	Q92838	ATP6V0C	Homo sapiens	P27449	Y2H Array	25416956
Intra	EDA	Q92838	DOLK	Homo sapiens	Q9UPQ8	Validated Y2H	32296183
Intra	EDA	Q92838	CYB561	Homo sapiens	P49447	Y2H Prey Pooling	25416956
Intra	EDA	Q92838	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	25416956
Intra	EDA	Q92838	SEC22A	Homo sapiens	Q96IW7	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

EDA Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811213	EDA Antibody	WB, IHC-P	Human, Mouse
HY-P89539	EDA Antibody (YA8883)	WB, IP, ELISA	human, mouse, rat

Related Diseases

Diseases	Alias
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
Tooth Agenesis, Selective, X-Linked, 1	STHAGX1 Tooth Agenesis, Selective, X-Linked 1 Hypodontia/Oligodontia, X-Linked, 1 Hypodontia/Oligodontia X-Linked 1
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Tooth Agenesis, Selective, 1	STHAG1 Hypodontia/Oligodontia 1 Hyd1 Tooth Agenesis, Familial Tooth Agenesis, Selective, 1, With Or Without Orofacial Cleft Second Premolars And Third Molars, Absence Of Absence Of Second Premolars And Third Molars Familial Tooth Agenesis Hypodontia/Oligodontia With Orofacial Cleft Selective Tooth Agenesis 1 Selective Tooth Agenesis With Orofacial Cleft
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
Anhidrosis	Hypohidrosis Absence Of Sweating Adiaphoresis Impaired Sweating Oligohidrosis
Craniofrontonasal Syndrome	Craniofrontonasal Dysplasia CFNS Cfnd Craniofrontonasal Dysostosis Craniofrontonasal Dystosis Dysplasia, Craniofrontonasal
Incontinentia Pigmenti	Bloch-Sulzberger Syndrome IP Incontinentia Pigmenti, Familial Male-Lethal Type Incontinentia Pigmenti Syndrome Bloch-Siemens Syndrome Ip2 Incontinentia Pigmenti, Type Ii, Formerly Ip2, Formerly Incontinentia Pigmenti Type 2 Bloch-Siemens-Sulzberger Syndrome Familial Incontinentia Pigmenti Male-Lethal Type Familial Incontinentia Pigmenti Type Ii Incontinentia Pigmenti, Type Ii Bloch Sulzberger Syndrome Incontinentia Pigmenti Achromians Incontinentia Pigmenti Of Bloch-Sulzberger Nevus Pigmentosus Systematicus
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
Hypotrichosis
Sweat Gland Disease	Sweat Gland Diseases
Ectodermal Dysplasia 10b	Ectd10b Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive
Toxicodendron Dermatitis	Dermatitis, Toxicodendron Contact Dermatitis Due To Genus Toxicodendron Rhus Dermatitis Dermatitis Toxicodendron
Pompholyx	Dyshidrosis Vesicular Eczema Of Hands And/Or Feet Cheiropompholyx Dyshydrotic Eczema Eczema, Dyshidrotic Vesicular Hand Eczema
Atrophic Rhinitis	Rhinitis, Atrophic Ozena Rhinitis Sicca Dry Rhinitis Ozaena
Paraurethral Gland Cancer	Malignant Tumor Of Paraurethral Gland Malignant Tumor Of The Paraurethral Gland Skene Gland Carcinoma Carcinoma Of The Paraurethral Gland Paraurethral Gland Carcinoma
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 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
Hair Disease	Hair Diseases Hair Anomaly Hair Disorder Hair Problems
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

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 (24)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2587	Irigenin		99.84%	Unkown
HY-130893	Biotin-EDA		99.76%	Unkown
HY-126688	Mal-C2-Gly3-EDA-PNU-159682		93.43%	Unkown
HY-D1603	BODIPY FL-EDA		97.86%	Unkown
HY-147097A	EDA-DA TFA		95.0%	Unkown
HY-114346A	BODIPY FL EDA free base		/	Unkown
HY-125810	4'-Ethynyl-2'-deoxyadenosine	Inhibitor	/	Unkown
HY-126673	Mal-C2-Gly3-EDA		/	Unkown
HY-130893A	Biotin-EDA TFA		/	Unkown
HY-130893B	Biotin-EDA hydrobromide		/	Unkown
HY-145078	PNU-EDA-Gly5		/	Unkown
HY-147097	EDA-DA		/	Unkown
HY-171489	Mal-VC-PAB-EDA-N-Ac-Calicheamicin		/	Unkown
HY-D1395	RH-EDA		/	Unkown
HY-P11849	NOTA-PTP		/	Unkown
HY-RS04151	EDA Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04152	EDA2R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-151829	Fmoc-L-Asn(EDA-N3)-OH		/	Unkown
HY-151842	Fmoc-EDA-N3		/	Unkown
HY-186077	PEDA		/	Unkown
HY-RS16949	Eda Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18272	Eda2r Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23392	Eda Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24750	Eda2r Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	EDA	VGNC	VGNC:72153
Canis familiaris	EDA	VGNC	VGNC:54136
Mus musculus	EDA	MGD	MGI:1195272
Bos taurus	EDA	VGNC	VGNC:28316
Rattus norvegicus	EDA	RGD	RGD:1563178
Others	EDA	NCBI