EDA - ectodysplasin A Gene

Homo sapiens

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

Gene ID: 1896 | Gene type: protein coding

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	Reference	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	Reference	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

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

Bioactive Molecules (15)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-N2587	Irigenin		99.84%	Unkown
HY-130893	Biotin-EDA		97.49%	Unkown
HY-147097A	EDA-DA TFA		≥95.0%	Unkown
HY-126688	Mal-C2-Gly3-EDA-PNU-159682		93.43%	Unkown
HY-D1603	BODIPY FL-EDA		99.23%	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-145078	PNU-EDA-Gly5		/	Unkown
HY-147097	EDA-DA		/	Unkown
HY-D1395	RH-EDA		/	Unkown
HY-RS04151	EDA Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04152	EDA2R Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-151829	Fmoc-L-Asn(EDA-N3)-OH		/	Unkown
HY-151842	Fmoc-EDA-N3		/	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
Macaca fascicularis	EDA	NCBI	NCBI:102126767
Others	EDA	NCBI

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