EDAR ectodysplasin A receptor [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDARprovided by HGNC
Official Full Name: ectodysplasin A receptorprovided by HGNC
Primary source: HGNC:HGNC:2895
See related: Ensembl:ENSG00000135960 MIM:604095; AllianceGenome:HGNC:2895
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R
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]
Expression: Broad expression in esophagus (RPKM 1.4), lymph node (RPKM 0.8) and 18 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 2q13

Exon count:: 12

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	2	NC_000002.12 (108894471..108989220, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	2	NC_060926.1 (109355029..109449802, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	2	NC_000002.11 (109510927..109605676, complement)

Chromosome 2 - NC_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia.
Title: Elevated EDAR signalling promotes mammary gland tumourigenesis with squamous metaplasia.
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.
Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
Title: Different degree of loss-of-function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity.
A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
Title: A novel EDAR variant identified in non-syndromic tooth agenesis: Insights from molecular dynamics.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Title: Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
Title: The human EDAR 370V/A polymorphism affects tooth root morphology potentially through the modification of a reaction-diffusion system.
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Title: A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese family.
Association of EDARV370A with breast density and metabolic syndrome in Latinos.
Title: Association of EDARV370A with breast density and metabolic syndrome in Latinos.
Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Title: Comparative analysis of rare EDAR mutations and tooth agenesis pattern in EDAR- and EDA-associated nonsyndromic oligodontia.
Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.
Title: Missense mutations in EDA and EDAR genes cause dominant syndromic tooth agenesis.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MedGen: C3888065 OMIM: 129490 GeneReviews: Hypohidrotic Ectodermal Dysplasia	Compare labs
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MedGen: C3887494 OMIM: 224900 GeneReviews: Hypohidrotic Ectodermal Dysplasia	Compare labs
Hair morphology 1 MedGen: C2675460 OMIM: 612630 GeneReviews: Not available	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

NoName (e-PCR)
- UniSTS:483654

SGC44330 (e-PCR)
- UniSTS:9289

RH103303 (e-PCR)
- UniSTS:97634

RH48148 (e-PCR)
- UniSTS:80332

RH78194 (e-PCR)
- UniSTS:27120

T02821 (e-PCR)
- UniSTS:27386

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor activity	IBA Inferred from Biological aspect of Ancestor more info
enables transmembrane signaling receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables transmembrane signaling receptor activity	NAS Non-traceable Author Statement more info	PubMed

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	IDA Inferred from Direct Assay more info	PubMed
involved_in epidermis development	TAS Traceable Author Statement more info	PubMed
involved_in hair follicle development	IEA Inferred from Electronic Annotation more info
involved_in odontogenesis of dentin-containing tooth	IEA Inferred from Electronic Annotation more info
involved_in pigmentation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of JNK cascade	IBA Inferred from Biological aspect of Ancestor 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 gene expression	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of non-canonical NF-kappaB signal transduction	IEA Inferred from Electronic Annotation more info
involved_in salivary gland cavitation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in apical part of cell	IEA Inferred from Electronic Annotation more info
located_in membrane	NAS Non-traceable Author Statement more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: tumor necrosis factor receptor superfamily member EDAR

Names: EDA-A1 receptor; anhidrotic ectodysplasin receptor 1; downless homolog; downless, mouse, homolog of; ectodermal dysplasia receptor; ectodysplasin 1, anhidrotic receptor; ectodysplasin A1 receptor; hypohidrotic ectodermal dysplasia

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.

Genomic

NG_008257.1 RefSeqGene

Range

5153..99902

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_022336.4 → NP_071731.1 tumor necrosis factor receptor superfamily member EDAR precursor

See identical proteins and their annotated locations for NP_071731.1

Status: REVIEWED

Source sequence(s)

AC073415, AC092160, AC133784, AF130988, AI017384

Consensus CDS

CCDS2081.1

UniProtKB/Swiss-Prot

B2R9H2, B4DLC5, D3DX74, E9PC98, Q52LL5, Q9UND9, Q9UNE0

UniProtKB/TrEMBL

Q68DL5

Related

ENSP00000258443.2, ENST00000258443.7

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_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000002.12 Reference GRCh38.p14 Primary Assembly

Range

108894471..108989220 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006712204.2 → XP_006712267.1 tumor necrosis factor receptor superfamily member EDAR isoform X1

UniProtKB/TrEMBL

Q68DL5

Related

ENSP00000365839.1, ENST00000376651.1

Conserved Domains (2) summary

cd13421
Location:13 → 148

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

cl14633
Location:386 → 460

DD; Death Domain Superfamily of protein-protein interaction domains