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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]
EDAR (Ectodysplasin A Receptor) is a Protein Coding gene. Diseases associated with EDAR include Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant and Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive. Among its related pathways are Innate Immune System and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is TNFRSF19.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004888 | transmembrane signaling receptor activity | IDA,NAS | 10431241 |
GO:0005515 | protein binding | IPI | 11039935 |
GO:0038023 | signaling receptor activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005886 | plasma membrane | TAS | -- |
GO:0016020 | membrane | IEA | -- |
GO:0016021 | integral component of membrane | NAS | 10431241 |
GO:0045177 | apical part of cell | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | TNF Superfamily Pathway: Human Ligand-Receptor Interactions and their Associated Functions | ||
2 | PEDF Induced Signaling | ||
3 | NF-kappa B signaling pathway | ||
4 | TRAF Pathway |
TNF Superfamily Pathway
.42
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5 | Cytokine Signaling in Immune system |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001942 | hair follicle development | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0008544 | epidermis development | TAS | 12270937 |
GO:0010628 | positive regulation of gene expression | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
ectodysplasin A1 | Pharma | 0 |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | EDAR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | EDAR 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | EDAR 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Edar 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Edar 30 |
|
||
Cow (Bos Taurus) |
Mammalia | EDAR 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | EDAR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | EDAR 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | EDAR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | edar 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | edar-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | edar 30 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 02 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
839010 | Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 108,897,216(-) |
C/T NM_022336.4(EDAR):c.1038G>A (p.Thr346=) |
SYNONYMOUS | |
840707 | Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 108,911,027(-) |
A/C NM_022336.4(EDAR):c.575T>G (p.Met192Arg) |
MISSENSE | |
840729 | Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 108,897,124(-) |
A/G NM_022336.4(EDAR):c.1130T>C (p.Leu377Pro) |
MISSENSE | |
847026 | Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 108,906,359(-) |
G/A NM_022336.4(EDAR):c.973C>T (p.Arg325Trp) |
MISSENSE | |
850904 | Uncertain Significance: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 108,923,418(-) |
T/C NM_022336.4(EDAR):c.392A>G (p.Tyr131Cys) |
MISSENSE |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv1161e212 | CNV | loss | 25503493 |
esv2132532 | CNV | deletion | 18987734 |
esv2657394 | CNV | deletion | 23128226 |
esv2720507 | CNV | deletion | 23290073 |
esv2762779 | CNV | loss | 21179565 |
esv3559928 | CNV | deletion | 23714750 |
esv3591934 | CNV | loss | 21293372 |
esv3591935 | CNV | loss | 21293372 |
nsv1149522 | OTHER | inversion | 26484159 |
nsv508854 | CNV | insertion | 20534489 |
nsv516437 | CNV | loss | 19592680 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant |
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ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive |
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hypohidrotic ectodermal dysplasia autosomal recessive |
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hair morphology 1 |
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ectodermal dysplasia |
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