EDAR - ectodysplasin A receptor Gene

Homo sapiens

Also known as DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R

Gene ID: 10913 | Gene type: protein coding

About EDAR

Cytogenetic location: 2q13 Genomic coordinates (GRCh38): 2:108,894,471-108,989,220 (from NCBI)

This gene has 3 transcripts (splice variants), 202 orthologues, 2 paralogues and is associated with 9 phenotypes. Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues.

Summary

This gene encodes a member of the tumor necrosis factor receptor family. The encoded transmembrane protein is a receptor for the soluble ligand ectodysplasin A, and can activate the nuclear factor-kappaB, JNK, and caspase-independent cell death pathways. It is required for the development of hair, teeth, and other ectodermal derivatives. Mutations in this gene result in autosomal dominant and recessive forms of hypohidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]

EDAR Products(1)

mRNA	Protein	Name
NM_022336.4	NP_071731.1	tumor necrosis factor receptor superfamily member EDAR precursor

EDAR Protein Structure

Death

0
100
200
300
400
448 a.a.

Protein Preferred Names

Protein Names

tumor necrosis factor receptor superfamily member EDAR

EDA-A1 receptor

Recombinant EDAR Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75262	EDAR Protein, Human (HEK293, His)	Q9UNE0 (E27-I189)	≥95%
HY-P75263	EDAR Protein, Human (HEK293, Fc)	Q9UNE0 (M1-I189)	≥95%

Related Diseases

Diseases

Alias

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

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

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

Hair Morphology 1

Hair Morphology 1, Hair Thickness	HRM1
Hair Thickness, Variation In

Ectodermal Dysplasia

Congenital Ectodermal Defect	Congenital Ectodermal Dysplasia
Ectodermal Dysplasia Syndrome	Dysplasia, Ectodermal

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

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 10b

Ectd10b

Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive

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

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

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

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

Pompholyx

Dyshidrosis	Vesicular Eczema Of Hands And/Or Feet
Cheiropompholyx	Dyshydrotic Eczema
Eczema, Dyshidrotic	Vesicular Hand Eczema

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

Sweat Gland Disease

Sweat Gland Diseases

Hypotrichosis

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

Anhidrosis

Hypohidrosis	Absence Of Sweating
Adiaphoresis	Impaired Sweating
Oligohidrosis

Immunodeficiency 57 With Autoinflammation

Immunodeficiency 57	IMD57
Immune Dysregulation-Inflammatory Bowel Disease-Arthritis-Recurrent Infections-Lymphopenia Syndrome

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Miliaria Profunda

Icd10cm:L74.2

Snomedct_us_2020_03_01:47317002

Leiomyomatosis

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

Hair Disease

Hair Diseases	Hair Anomaly
Hair Disorder	Hair Problems

Cleft Palate, Isolated

Cleft Palate	Isolated Cleft Palate
CPI	Cp
Palatoschisis	Cleft Palate Isolated
Uranostaphyloschisis	Congenital Fissure Of Palate
Cleft Of Secondary Palate

Orofacial Cleft

Cleft, Orofacial

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04153	EDAR Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	EDAR	RGD	RGD:1561714
Bos taurus	EDAR	VGNC	VGNC:28318
Mus musculus	EDAR	MGD	MGI:1343498
Canis familiaris	EDAR	VGNC	VGNC:40190
Felis catus	EDAR	VGNC	VGNC:61719
Macaca mulatta	EDAR	VGNC	VGNC:72133
Macaca fascicularis	EDAR	NCBI
Others	EDAR	NCBI