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Gene : EDAR Homo sapiens

Name  ? ectodysplasin A receptor Cytological Location  2q13
Brief Description  ectodysplasin A receptor
description  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]
  • synonyms:
  • EDA1R,
  • NM_022336,
  • OTTHUMG00000130982,
  • DL,
  • HGNC:2895,
  • ED5,
  • EDAR,
  • EDA3,
  • ED5,
  • DL,
  • HRM1,
  • ectodysplasin 1, anhidrotic receptor,
  • uc002teq.4,
  • EDA-A1R,
  • ECTD10B,
  • EDA1R,
  • Edar,
  • ED3,
  • AF130988,
  • ED1R,
  • ECTD10A,
  • ED3,
  • EDA3,
  • ED1R
  • identifiers:
  • 10913,
  • ENSG00000135960,
  • EDAR

Genome feature

Region: gene ? Length: 94902  
Location: 2:108894471-108989372 reverse strand Cyto location: 2q13


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Function

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Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Gene --> Chromosomal location.

Gene --> GO terms.

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Interactions

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Gene --> Physical and Genetic Interactions

Expression

Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.

 

Other

12 SN Ps

5 Cross References

20 Data Sets

5 Homologues

1 Located Features

90 Rna Seq Results