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EDA2R - ectodysplasin A2 receptor Gene

Also Known as XEDAR; EDAA2R; EDA-A2R; TNFRSF27

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 60401

About EDA2R

Cytogenetic location: Xq12 Genomic coordinates (GRCh38): X:66,595,637-66,639,269 (from NCBI)

This gene has 4 transcripts (splice variants), 134 orthologues, 2 paralogues and is associated with 1 phenotype. Broad expression in thyroid (RPKM 3.4), ovary (RPKM 3.3) and 22 other tissues.

Summary

The protein encoded by this gene is a type III transmembrane protein of the TNFR (tumor necrosis factor receptor) superfamily, and contains cysteine-rich repeats and a single transmembrane domain. This protein binds to the EDA-A2 isoform of ectodysplasin, which plays an important role in maintenance of hair and teeth. Alternatively spliced transcript variants encodes distinct protein isoforms. [provided by RefSeq, Apr 2016]

EDA2R Products (9)

mRNA	Protein	Name
NM_001199687.3	NP_001186616.2	tumor necrosis factor receptor superfamily member 27 isoform 1
NM_001242310.1	NP_001229239.1	tumor necrosis factor receptor superfamily member 27 isoform 2
NM_001324199.2	NP_001311128.2	tumor necrosis factor receptor superfamily member 27 isoform 3
NM_001324201.2	NP_001311130.2	tumor necrosis factor receptor superfamily member 27 isoform 4
NM_001324202.2	NP_001311131.2	tumor necrosis factor receptor superfamily member 27 isoform 5
NM_001324204.2	NP_001311133.2	tumor necrosis factor receptor superfamily member 27 isoform 6
NM_001324205.2	NP_001311134.2	tumor necrosis factor receptor superfamily member 27 isoform 7
NM_001324206.2	NP_001311135.2	tumor necrosis factor receptor superfamily member 27 isoform 8
NM_021783.5	NP_068555.2	tumor necrosis factor receptor superfamily member 27 isoform 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	Références	Source
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	Références	Source
involved in cytokine-mediated signaling pathway	IDA IDA: Inferred from direct assay	11039935	GOA
involved in positive regulation of JNK cascade	IDA IDA: Inferred from direct assay	12270937	GOA
involved in positive regulation of canonical NF-kappaB signal transduction	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

EDA2R Protein Structure

TNFR_c6

0
100
200
297 a.a.

Protein Preferred Names	Protein Names
tumor necrosis factor receptor superfamily member 27	EDA-A2 receptor

EDA2R Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Références
Intra	EDA2R	Q9HAV5	TRAF3	Homo sapiens	Q13114	Anti Tag CoIP	33961781
Intra	EDA2R	Q9HAV5	TRAF3	Homo sapiens	Q13114	Anti Tag CoIP	28514442
Intra	EDA2R	Q9HAV5	TRAF6	Homo sapiens	Q9Y4K3	Anti Tag CoIP	33961781
Intra	EDA2R	Q9HAV5	TRAF6	Homo sapiens	Q9Y4K3	Anti Tag CoIP	28514442
Intra	EDA2R	Q9HAV5	TRAF6	Homo sapiens	Q9Y4K3	CoIP	15280356

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant EDA2R Proteins

Cat. No.	Nom du produit	Accession	Pureté
HY-P75727	EDA2R/XEDAR Protein, Human (HEK293, Fc)	Q9HAV5 (M1-E136)	≥ 95%, as determined by reducing SDS-PAGE.
HY-P75728	EDA2R/XEDAR Protein, Human (HEK293, His)	Q9HAV5 (M1-T138)	≥ 95%, as determined by reducing SDS-PAGE.

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
Ectodermal Dysplasia	Congenital Ectodermal Defect Congenital Ectodermal Dysplasia Ectodermal Dysplasia Syndrome Dysplasia, Ectodermal
Ectodermal Dysplasia 10b	Ectd10b Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Nail Type, Autosomal Recessive
Androgenic Alopecia	Androgenetic Alopecia Alopecia Androgenetica, Male Pattern Baldness
Megabladder, Congenital	MGBL Congenital Megabladder
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
Myopathy, Congenital, Compton-North	Compton-North Congenital Myopathy MYPCN Congenital Lethal Myopathy, Compton-North Type
Alopecia
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 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
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
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth

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)

Cat. No.	Nom du produit	Effect	Pureté	Rare Diseases
HY-RS04152	EDA2R Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18272	Eda2r Mouse 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
Bos taurus	EDA2R	VGNC	VGNC:28317
Felis catus	EDA2R	VGNC	VGNC:61718
Rattus norvegicus	EDA2R	RGD	RGD:1564025
Mus musculus	EDA2R	MGD	MGI:2442860
Macaca mulatta	EDA2R	VGNC	VGNC:72062
Others	EDA2R	NCBI