Edar ectodysplasin-A receptor [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Edarprovided by MGI
Official Full Name: ectodysplasin-A receptorprovided by MGI
Primary source: MGI:MGI:1343498
See related: Ensembl:ENSMUSG00000003227 AllianceGenome:MGI:1343498
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: dl; ED3; ED5; ED1R; EDA3; EDA-A1R
Summary: Enables signaling receptor activity. Involved in cytokine-mediated signaling pathway and positive regulation of canonical NF-kappaB signal transduction. Acts upstream of or within several processes, including hair follicle development; positive regulation of non-canonical NF-kappaB signal transduction; and salivary gland cavitation. Located in apical part of cell and plasma membrane. Is expressed in several structures, including embryo ectoderm; integumental system; male accessory gland; sensory organ; and tooth. Used to study hypohidrotic ectodermal dysplasia. Human ortholog(s) of this gene implicated in ectodermal dysplasia 10A and ectodermal dysplasia 10B. Orthologous to human EDAR (ectodysplasin A receptor). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Broad expression in genital fat pad adult (RPKM 2.0), limb E14.5 (RPKM 0.8) and 19 other tissues See more
Orthologs: human all
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Genomic context

Location:: 10 B4; 10 29.37 cM

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	10	NC_000076.7 (58436602..58511518, complement)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	10	NC_000076.6 (58600780..58675696, complement)

Chromosome 10 - NC_000076.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-kappaB signaling in keratinocyte.
Title: Depletion of G9A attenuates imiquimod-induced psoriatic dermatitis via targeting EDAR-NF-κB signaling in keratinocyte.
Author report an unexpected pro-apoptotic activity of EDAR when unbound to its ligand Eda-A1, which is independent of NF-kappaB pathway. Contrarily to other death receptors, EDAR does recruit caspase-8 to trigger apoptosis but solely upon ligand withdrawal, thereby behaving as the so-called dependence receptors.
Title: The Ectodysplasin receptor EDAR acts as a tumor suppressor in melanoma by conditionally inducing cell death.
broad activation of Edar expression precedes its spatial restriction to tooth signaling centers.
Title: Modeling Edar expression reveals the hidden dynamics of tooth signaling center patterning.
EDAR protein signaling pathway plays an important role in wound healing in mice and human.
Title: Ectodysplasin A Pathway Contributes to Human and Murine Skin Repair.
Mouse models with HED also carry Eda, Edar or Edaradd mutations and have defects that map to the same structures.We report that otitis media, rhinitis and nasopharyngitis occur at high frequency in Eda and Edar mutant mice and explore the pathogenic mechanisms related to glandular function, microbial and immune parameters in these lines
Title: Ectodysplasin signalling deficiency in mouse models of hypohidrotic ectodermal dysplasia leads to middle ear and nasal pathology.
Edar is expressed in the developing ear. Edar-deficient mice have an abnormally shaped pinna.
Title: A genome-wide association study identifies multiple loci for variation in human ear morphology.
Edar signalling has pleiotropic effects on craniofacial and cutaneous glands
Title: Enhanced Edar signalling has pleiotropic effects on craniofacial and cutaneous glands.
These data reveal a complex interplay and interdependence of Wnt/beta-catenin and EDA/EDAR/NF-kappaB signaling pathways in initiation and maintenance of primary hair follicle placodes.
Title: Reciprocal requirements for EDA/EDAR/NF-kappaB and Wnt/beta-catenin signaling pathways in hair follicle induction.
Salivary gland branching morphogenesis: a quantitative systems analysis of the Edar
Title: Salivary gland branching morphogenesis: a quantitative systems analysis of the Eda/Edar/NFkappaB paradigm.
results indicate that unknown mechanisms of the Eda pathway are implicated in tooth morphogenesis
Title: Distinct impacts of Eda and Edar loss of function on the mouse dentition.

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Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (3)
Endonuclease-mediated (2)
Spontaneous (4) 1 citation
Targeted (4) 1 citation
Transgenic (2) 1 citation

General gene information

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Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables transmembrane signaling receptor activity	IEA Inferred from Electronic Annotation more info
enables transmembrane signaling receptor activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in cytokine-mediated signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cytokine-mediated signaling pathway	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within hair follicle development	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within hair follicle development	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within odontogenesis of dentin-containing tooth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within pigmentation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of JNK cascade	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of canonical NF-kappaB signal transduction	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of gene expression	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of non-canonical NF-kappaB signal transduction	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within salivary gland cavitation	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in apical part of cell	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: tumor necrosis factor receptor superfamily member EDAR

Names: anhidrotic ectodysplasin receptor 1; downless; ectodermal dysplasia receptor

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001428455.1 → NP_001415384.1 tumor necrosis factor receptor superfamily member EDAR isoform 2

Status: VALIDATED

Source sequence(s)

AC158593, AC166081
NM_010100.4 → NP_034230.1 tumor necrosis factor receptor superfamily member EDAR isoform 1 precursor

See identical proteins and their annotated locations for NP_034230.1

Status: VALIDATED

Source sequence(s)

AC158593, AC166081

Consensus CDS

CCDS23862.1

UniProtKB/Swiss-Prot

Q9DC43, Q9R187

UniProtKB/TrEMBL

Q6NV51

Related

ENSMUSP00000003312.5, ENSMUST00000003312.5

Conserved Domains (2) summary

cd13421
Location:13 → 148

TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)

cl14633
Location:354 → 428

DD; Death Domain Superfamily of protein-protein interaction domains

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000076.7 Reference GRCm39 C57BL/6J

Range

58436602..58511518 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006513204.5 → XP_006513267.1 tumor necrosis factor receptor superfamily member EDAR isoform X1

UniProtKB/TrEMBL

Q6NV51

Conserved Domains (3) summary

cd13421
Location:35 → 170

TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)

pfam04277
Location:212 → 257

OAD_gamma; Oxaloacetate decarboxylase, gamma chain

cl14633
Location:378 → 452

DD; Death Domain Superfamily of protein-protein interaction domains
XM_006513205.5 → XP_006513268.1 tumor necrosis factor receptor superfamily member EDAR isoform X2

UniProtKB/TrEMBL

Q6NV51

Conserved Domains (2) summary

cd13421
Location:35 → 170

TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)

cl14633
Location:377 → 451

DD; Death Domain Superfamily of protein-protein interaction domains
XM_006513206.5 → XP_006513269.1 tumor necrosis factor receptor superfamily member EDAR isoform X3

UniProtKB/TrEMBL

Q6NV51

Conserved Domains (2) summary

cd13421
Location:35 → 170

TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)

cl14633
Location:376 → 450

DD; Death Domain Superfamily of protein-protein interaction domains
XM_030244869.1 → XP_030100729.1 tumor necrosis factor receptor superfamily member EDAR isoform X4

Conserved Domains (2) summary

cd13421
Location:1 → 128

TNFRSF_EDAR; Tumor necrosis factor receptor superfamily member ectodysplasin A receptor (EDAR)

cl14633
Location:334 → 408

DD; Death Domain Superfamily of protein-protein interaction domains