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Gene

EDARADD

EDAR associated via death domain

Summary

Cytogenetic location
1q42.3-q43
Coordinates
Chromosome 1: 236,394,286–236,484,930 (GRCh38)
Exons
6 exons across 90.6 kb
Protein
215 amino acids
Also known as
CR
MANE Select transcript
ENST00000334232.9NM_145861.4
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).

      • 2 GenCC submitters rate it definitive or strong

How EDARADD is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where EDARADD sits. EDARADD and 7 genes near it on chromosome 1, from 235,939,608 to 236,939,607.Chromosome 11q42.3-q43p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q44236 Mb236.2 Mb236.4 Mb236.6 Mb236.8 MbNID1: 235,975,830–236,083,915, reverse strandNID1GPR137B: 236,142,148–236,253,151, forward strandGPR137BERO1B: 236,214,681–236,282,019, reverse strandERO1BEDARADD: 236,394,286–236,484,930, forward strandEDARADDLGALS8: 236,518,000–236,552,981, forward strandLGALS8HEATR1: 236,540,493–236,604,832, reverse strandHEATR1ACTN2: 236,664,141–236,764,631, forward strandACTN2MTR: 236,795,260–236,921,278, forward strandMTRDiagram of EDARADD: 6 exons on the forward strand of chromosome 1Exon 2: 1 known disease-causing siteExon 4: 1 known disease-causing siteExon 6: 6 known disease-causing sitesExon 1: 236,394,286–236,394,505, 220 basesExon 2: 236,409,216–236,409,274, 59 basesExon 3: 236,414,260–236,414,299, 40 basesExon 4: 236,427,392–236,427,450, 59 basesExon 5: 236,468,231–236,468,276, 46 basesExon 6: 236,482,267–236,484,930, 2,664 bases1234565′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 3.1 kb of the gene's 90.6 kb; 648 of those bases code for the protein.

How a genome test reads EDARADD

10

positions in EDARADD 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 90.6 kb of EDARADD, introns included, not only the 3.1 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.). EDARADD gene: EDAR associated via death domain. Retrieved 16 October 2026, from https://dantelabs.com/genes/edaradd

Vancouver

Dante Labs. EDARADD gene: EDAR associated via death domain [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/edaradd

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