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EDAR

GENERAL INFORMATION

Gene name

 EDAR

Gene description

 Ectodysplasin A receptor

Protein class

 Disease related genes
Plasma proteins
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 3
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Tissue enhanced (esophagus, urinary bladder)
FANTOM5:Tissue enhanced (tonsil)

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Pending external verification.

Reliability score

 Approved based on 1 antibody.
HPA042292
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus, urinary bladder)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (tonsil)

GENE INFORMATION

Gene name

 EDAR (HGNC Symbol)

Synonyms

 DL, ED1R, ED3, ED5, EDA1R, EDA3, Edar

Description

 Ectodysplasin A receptor (HGNC Symbol)

Entrez gene 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]

Chromosome

 2

Cytoband

 q13

Chromosome location (bp)

 108894471 - 108989372

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000135960 (version 83.38)

Entrez gene

 10913

UniProt

 Q9UNE0 (UniProt - Evidence at protein level)

neXtProt

 NX_Q9UNE0

Antibodypedia

 EDAR antibodies

PROTEIN BROWSER
EDAR-001
EDAR-002
EDAR-201

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EDAR-001
ENSP00000258443
ENST00000258443
Q9UNE0 [Direct mapping]
Tumor necrosis factor receptor superfamily member EDAR
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Show all
GO:0001942 [hair follicle development]
GO:0004872 [receptor activity]
GO:0004888 [transmembrane signaling receptor activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0007165 [signal transduction]
GO:0008544 [epidermis development]
GO:0010628 [positive regulation of gene expression]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0033209 [tumor necrosis factor-mediated signaling pathway]
GO:0042346 [positive regulation of NF-kappaB import into nucleus]
GO:0042475 [odontogenesis of dentin-containing tooth]
GO:0043473 [pigmentation]
GO:0045177 [apical part of cell]
GO:0060662 [salivary gland cavitation]
Show all
 448 aa
48.6 kDa 		Yes 1
EDAR-002
ENSP00000386371
ENST00000409271
Q9UNE0 [Direct mapping]
Tumor necrosis factor receptor superfamily member EDAR
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Show all
GO:0004872 [receptor activity]
GO:0004888 [transmembrane signaling receptor activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0007165 [signal transduction]
GO:0008544 [epidermis development]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0033209 [tumor necrosis factor-mediated signaling pathway]
Show all
 480 aa
51.7 kDa 		Yes 1
EDAR-201
ENSP00000365839
ENST00000376651
Q9UNE0 [Direct mapping]
Tumor necrosis factor receptor superfamily member EDAR
Show all
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Show all
GO:0004872 [receptor activity]
GO:0004888 [transmembrane signaling receptor activity]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0006915 [apoptotic process]
GO:0007165 [signal transduction]
GO:0008544 [epidermis development]
GO:0016021 [integral component of membrane]
GO:0030154 [cell differentiation]
GO:0033209 [tumor necrosis factor-mediated signaling pathway]
Show all
 480 aa
51.7 kDa 		Yes 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.