EDAR - ectodysplasin A receptor Gene

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

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 10913

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

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	参考文献	由来
enables protein binding	IPI IPI: Inferred from physical interaction	11039935	GOA
enables transmembrane signaling receptor activity	IDA IDA: Inferred from direct assay	11039935	GOA

Biological Process GO Annotation	Evidence	参考文献	由来
involved in cytokine-mediated signaling pathway	IDA IDA: Inferred from direct assay	11039935	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

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

製品番号	製品名	アクセッション番号	純度
HY-P75262	EDAR Protein, Human (HEK293, His)	Q9UNE0-1 (E27-I189)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75263	EDAR Protein, Human (HEK293, Fc)	Q9UNE0-1 (E27-I189)	≥ 95%, as determined by reducing SDS-PAGE.

関連疾患

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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS04153	EDAR Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS17803	Edar Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24271	Edar Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	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
Others	EDAR	NCBI