Gene Gene information from NCBI Gene database.
Entrez ID 128178
Gene name EDAR associated via death domain
Gene symbol EDARADD
Synonyms (NCBI Gene)
CRECTD11AECTD11BED3EDA3
Chromosome 1
Chromosome location 1q42.3-q43
Summary This gene was identified by its association with ectodermal dysplasia, a genetic disorder characterized by defective development of hair, teeth, and eccrine sweat glands. The protein encoded by this gene is a death domain-containing protein, and is found
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs74315309 G>A Pathogenic Missense variant, coding sequence variant
rs121908116 T>G Pathogenic Missense variant, coding sequence variant
rs397515575 AACGGT>- Pathogenic Coding sequence variant, inframe deletion
rs766500689 C>A,T Pathogenic Stop gained, synonymous variant, coding sequence variant
rs879255553 G>A Pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
529
miRTarBase ID miRNA Experiments Reference
MIRT043891 hsa-miR-378a-3p CLASH 23622248
MIRT040816 hsa-miR-18a-3p CLASH 23622248
MIRT638797 hsa-miR-6890-3p HITS-CLIP 23824327
MIRT638796 hsa-miR-6741-3p HITS-CLIP 23824327
MIRT638795 hsa-miR-1304-3p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
5
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 31515488
GO:0005737 Component Cytoplasm IEA
GO:0005829 Component Cytosol TAS
GO:0007165 Process Signal transduction IEA
GO:0030154 Process Cell differentiation IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606603 14341 ENSG00000186197
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8WWZ3
Protein name Ectodysplasin-A receptor-associated adapter protein (EDAR-associated death domain protein) (Protein crinkled homolog)
Protein function Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF-kappa-B.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00531 Death 122 199 Death domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in adult pancreas, placenta and fetal skin, and at lower levels in lung, thymus, prostate and testis.
Sequence
MGLRTTKQMGRGTKAPGHQEDHMVKEPVEDTDPSTLSFNMSDKYPIQDTELPKAEECDTI
TLNCPRNSDMKNQGEENGFPDSTGDPLPEISKDNSCKENCTCSSCLLRAPTISDLLNDQD
LLDVIRIKLDPCHPTVKNWRNFASKWGMSYDELCFLEQRPQSPTLEFLLRNSQRTVGQLM
ELCRLYHRADVEKVLRRWV
DEEWPKRERGDPSRHF
Sequence length 215
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  NF-kappa B signaling pathway   TNFs bind their physiological receptors
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
26
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant Likely pathogenic; Pathogenic rs74315309, rs121908116 RCV001729334
RCV000055985
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant Likely pathogenic; Pathogenic rs2103042605, rs74315309, rs121908116, rs879255629, rs2526890961, rs954823206 RCV001807985
RCV004798715
RCV000004408
RCV003765486
RCV003794981
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT Likely pathogenic rs879255629 RCV000239549
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Likely pathogenic; Pathogenic rs74315309, rs2526927321, rs879255629, rs879255553, rs766500689, rs2526890961, rs954823206, rs1657345576, rs200017138 RCV000004407
RCV003238157
RCV003765486
RCV000239464
RCV003338495
View all (4 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
AUTOIMMUNE THYROID DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA GenCC, Orphanet
GenCC, Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Alopecia HPO_DG
★☆☆☆☆
Found in Text Mining only
Anhidrosis Anhidrosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Anhydrotic Ectodermal Dysplasias Hypohidrotic ectodermal dysplasia BEFREE 17354266, 21771270
★☆☆☆☆
Found in Text Mining only
Anodontia Anodontia Pubtator 22581971, 27665865 Associate
★☆☆☆☆
Found in Text Mining only
Autosomal dominant hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autosomal dominant hypohidrotic ectodermal dysplasia syndrome (disorder) Hypohidrotic Ectodermal Dysplasia, X-Linked ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Autosomal recessive hypohidrotic ectodermal dysplasia Hypohidrotic ectodermal dysplasia Orphanet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Bloch Sulzberger syndrome Incontinentia pigmenti syndrome BEFREE 19504606
★☆☆☆☆
Found in Text Mining only
Christ-Siemens-Touraine syndrome Hypohidrotic Ectodermal Dysplasia, X-Linked BEFREE 11780064, 17354266, 18231121, 19504606, 20222921, 20477971, 21626677, 21771270, 21876339, 22013926, 26440664
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Christ-Siemens-Touraine syndrome Hypohidrotic Ectodermal Dysplasia, X-Linked GENOMICS_ENGLAND_DG 20222921, 25206167
★★☆☆☆
Found in Text Mining + Unknown/Other Associations