| Type | Description |
|---|---|
| Definition | ectodysplasin A receptor |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:31:00 | Novel EDAR mutation in tooth agenesis and variable associated features. | 32325225 |
| 2020-08-01 13:28:00 | study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in Hypohidrotic ectodermal dysplasia and 44.4% in non-syndromic tooth agenesis. | 31796081 |
| 2020-07-18 11:38:00 | The identification of the same homozygous mutation segregating with disease in two different families supports the important role of the gene in the development of the disorder and this may contribute to novel approaches, prenatal diagnosis and genetic counseling of families with EDAR related disorders. | 31310406 |
| 2020-06-06 13:21:00 | Authors 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. | 29855541 |
| 2020-03-10 20:26:00 | The p.Trp434Gly substitution of EDAR might be a loss-of-function alteration that would significantly alter its affinity to EDARADD, and finally, influence the downstream activation of NF-kappa B. | 31652981 |
| Type | IDs |
|---|---|
| Synonymous | DL, ECTD10A, ECTD10B, ED1R, ED3, ED5, EDA-A1R, EDA1R, EDA3, HRM1 |
| Gene |
UniProtKB-ID:
EDAR_HUMAN
UniprotKB:
Q9UNE0
UniParc:
UPI0000129BC4,
UPI000047F9AC
EMBL:
AF130990,
AC092160,
AC073415,
CH471182,
BC093872,
AF130991,
AC133784,
AF130995,
AK296936,
AF130996,
BC093870,
AF130992,
AF130988,
AK313781,
AF130993,
AF130994
Ensembl:
ENSG00000135960
KO:
hsa:10913
|
| Nucleutide sequences |
EMBL-CDS:
AAD50077.1,
EAW53869.1,
AAD50076.1,
AAH93870.1,
BAG59487.1,
AAH93872.1,
BAG36519.1
Ensembl_TRS:
ENST00000258443,
ENST00000376651,
ENST00000409271
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000365839,
ENSP00000386371,
ENSP00000258443
RefSeq:
NP_071731.1,
XP_011508804.2,
XP_006712267.1,
XP_011508805.2
|
| Others |
UniRef100:
UniRef100_Q9UNE0
UniRef90:
UniRef90_Q9UNE0
UniRef50:
UniRef50_Q9UNE0
UniGene:
Hs.171971
CCDS:
CCDS2081.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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