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Gene

EDA

ectodysplasin A

Summary

Cytogenetic location
Xq13.1
Coordinates
Chromosome X: 69,616,113–70,039,472 (GRCh38)
Exons
8 exons across 423.4 kb
Protein
391 amino acids
Also known as
EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2
Previous symbols
ED1, EDA2, ODT1
MANE Select transcript
ENST00000374552.9NM_001399.5
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 reports 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).

      • 4 GenCC submitters rate it definitive or strong

  • Hypodontia and Anodontia

    • Tooth Agenesis (Hypodontia)
      • 2 GenCC submitters rate it definitive or strong

How EDA is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome X, with a bracket where EDA sits. EDA and 13 genes near it on chromosome X, from 69,192,753 to 70,462,832.Chromosome XXq13.1p22.33p22.32p22.31p22.2p22.13p22.12p22.11p21.3p21.2p21.1p11.4p11.3p11.23p11.22p11.21p11.1q11.1q11.2q12q13.1q13.2q13.3q21.1q21.2q21.31q21.32q21.33q22.1q22.2q22.3q23q24q25q26.1q26.2q26.3q27.1q27.2q27.3q2869.2 Mb69.4 Mb69.6 Mb69.8 Mb70 Mb70.2 Mb70.4 MbNALF2: 69,504,321–69,532,508, forward strandNALF2EDA: 69,616,113–70,039,472, forward strandEDAAWAT2: 70,040,542–70,049,988, reverse strandAWAT2OTUD6A: 70,062,457–70,064,179, forward strandOTUD6AIGBP1: 70,133,345–70,166,327, forward strandIGBP1DGAT2L6: 70,177,483–70,205,704, forward strandDGAT2L6PDZD11: 70,223,409–70,290,596, reverse strandPDZD11AWAT1: 70,234,655–70,240,659, forward strandAWAT1P2RY4: 70,258,166–70,260,204, reverse strandP2RY4ARR3: 70,268,305–70,281,840, forward strandARR3RAB41: 70,282,093–70,285,003, forward strandKIF4A: 70,290,021–70,420,924, forward strandGDPD2: 70,423,031–70,433,710, forward strandGDPD2DLG3: 70,444,793–70,505,490, forward strandDLG3Diagram of EDA: 8 exons on the forward strand of chromosome XExon 1: 39 known disease-causing sitesExon 2: 19 known disease-causing sitesExon 3: 2 known disease-causing sitesExon 4: 45 known disease-causing sitesExon 5: 3 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 29 known disease-causing sitesExon 8: 42 known disease-causing sitesExon 1: 69,616,113–69,616,704, 592 basesExon 2: 69,957,027–69,957,132, 106 basesExon 3: 70,023,218–70,023,241, 24 basesExon 4: 70,027,857–70,028,036, 180 basesExon 5: 70,029,504–70,029,538, 35 basesExon 6: 70,030,469–70,030,520, 52 basesExon 7: 70,033,398–70,033,528, 131 basesExon 8: 70,035,358–70,039,472, 4,115 bases1585′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 5.2 kb of the gene's 423.4 kb; 1,176 of those bases code for the protein.

How a genome test reads EDA

205

positions in EDA 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 423.4 kb of EDA, introns included, not only the 5.2 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.). EDA gene: ectodysplasin A. Retrieved 16 October 2026, from https://dantelabs.com/genes/eda

Vancouver

Dante Labs. EDA gene: ectodysplasin A [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/eda

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