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Gene

EDAR

ectodysplasin A receptor

Summary

Cytogenetic location
2q13
Coordinates
Chromosome 2: 108,894,471–108,989,220 (GRCh38)
Exons
12 exons across 94.8 kb
Protein
448 amino acids
Also known as
ED5, EDA3, ED1R, EDA1R
Previous symbols
ED3, DL
MANE Select transcript
ENST00000258443.7NM_022336.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Ectodermal Dysplasias

    • Hypohidrotic Ectodermal Dysplasia

      A genetic disorder of ectoderm development characterized by malformation of ectodermal structures such as skin, hair, teeth and sweat glands. It comprises three clinically almost indistinguishable subtypes with impaired sweating as the key symptom: Christ-Siemens-Touraine (CST) syndrome (X-linked), autosomal recessive (AR), and autosomal dominant (AD) HED, as well as a fourth rare subtype with immunodeficiency as the key symptom (HED with immunodeficiency).

      • ClinGen rates the link definitive
      • 5 GenCC submitters rate it definitive or strong

How EDAR is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 2, with a bracket where EDAR sits. EDAR and 5 genes near it on chromosome 2, from 108,441,846 to 109,441,845.Chromosome 22q13p25.3p25.2p25.1p24.3p24.2p24.1p23.3p23.2p23.1p22.3p22.2p22.1p21p16.3p16.2p16.1p15p14p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13q14.1q14.2q14.3q21.1q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q31.1q31.2q31.3q32.1q32.2q32.3q33.1q33.2q33.3q34q35q36.1q36.2q36.3q37.1q37.2q37.3108.6 Mb108.8 Mb109 Mb109.2 Mb109.4 MbGCC2: 108,449,107–108,509,415, forward strandGCC2LIMS1: 108,533,671–108,687,347, forward strandLIMS1RANBP2: 108,719,367–108,785,810, forward strandRANBP2CCDC138: 108,786,730–108,885,477, forward strandCCDC138EDAR: 108,894,471–108,989,220, reverse strandEDARSH3RF3: 109,128,228–109,504,638, forward strandSH3RF3Diagram of EDAR: 12 exons on the reverse strand of chromosome 2Exon 12: 37 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 10: 3 known disease-causing sitesExon 9: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 7: 2 known disease-causing sitesExon 5: 1 known disease-causing siteExon 4: 9 known disease-causing sitesExon 3: 3 known disease-causing sitesExon 12: 108,894,471–108,897,229, 2,759 basesExon 11: 108,906,308–108,906,368, 61 basesExon 10: 108,907,860–108,908,019, 160 basesExon 9: 108,910,460–108,910,532, 73 basesExon 8: 108,910,776–108,910,850, 75 basesExon 7: 108,910,947–108,911,072, 126 basesExon 6: 108,912,678–108,912,764, 87 basesExon 5: 108,923,368–108,923,453, 86 basesExon 4: 108,929,198–108,929,379, 182 basesExon 3: 108,930,120–108,930,242, 123 basesExon 2: 108,930,964–108,931,032, 69 basesExon 1: 108,988,960–108,989,220, 261 bases1210864215′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.1 kb of the gene's 94.8 kb; 1,347 of those bases code for the protein.

How a genome test reads EDAR

69

positions in EDAR where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 94.8 kb of EDAR, introns included, not only the 4.1 kb of exons.

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). EDAR gene: ectodysplasin A receptor. Retrieved 17 October 2026, from https://dantelabs.com/genes/edar

Vancouver

Dante Labs. EDAR gene: ectodysplasin A receptor [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/edar

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