EDA2R - ectodysplasin A2 receptor Gene

Homo sapiens

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

Gene ID: 60401 | Gene type: protein coding

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	Reference	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	Reference	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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
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.	Product Name	Accession	Purity
HY-P75727	EDA2R/XEDAR Protein, Human (HEK293, Fc)	Q9HAV5 (M1-E136)	≥95%
HY-P75728	EDA2R/XEDAR Protein, Human (HEK293, His)	Q9HAV5 (M1-T138)	≥95%

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04152	EDA2R Human Pre-designed siRNA Set A	Pre-designed Sets	/	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
Macaca fascicularis	EDA2R	NCBI	NCBI:102116506
Others	EDA2R	NCBI

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