EDAR ectodysplasin A receptor
Gene ID: 10913, updated on 10-Oct-2024Gene type: protein coding
Also known as: DL; ED3; ED5; ED1R; EDA3; HRM1; EDA1R; ECTD10A; ECTD10B; EDA-A1R
- See all available tests in GTR for this gene
- Go to complete Gene record for EDAR
- Go to Variation Viewer for EDAR variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | not available |
| Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive | not available |
| Hair morphology 1 | not available |
Genomic context
- Location:
- 2q13
- Sequence:
- Chromosome: 2; NC_000002.12 (108894471..108989220, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for EDAR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- EDAR database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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