EDARADD EDAR associated via death domain [Homo sapiens (human)] - Gene

Summary

Official Symbol: EDARADDprovided by HGNC
Official Full Name: EDAR associated via death domainprovided by HGNC
Primary source: HGNC:HGNC:14341
See related: Ensembl:ENSG00000186197 MIM:606603; AllianceGenome:HGNC:14341
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: CR; ED3; EDA3; ECTD11A; ECTD11B
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 to interact with EDAR, a death domain receptor known to be required for the development of hair, teeth and other ectodermal derivatives. This protein and EDAR are coexpressed in epithelial cells during the formation of hair follicles and teeth. Through its interaction with EDAR, this protein acts as an adaptor, and links the receptor to downstream signaling pathways. Two alternatively spliced transcript variants of this gene encoding distinct isoforms have been reported. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in urinary bladder (RPKM 9.3), kidney (RPKM 6.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 1q42.3-q43

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	1	NC_000001.11 (236348259..236484930)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	1	NC_060925.1 (235750587..235884698)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	1	NC_000001.10 (236557586..236648230)

Chromosome 1 - NC_000001.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

EDARADD promotes colon cancer progression by suppressing E3 ligase Trim21-mediated ubiquitination and degradation of Snail.
Title: EDARADD promotes colon cancer progression by suppressing E3 ligase Trim21-mediated ubiquitination and degradation of Snail.
EDARADD silencing suppresses the proliferation and migration of bladder cancer cells.
Title: EDARADD silencing suppresses the proliferation and migration of bladder cancer cells.
Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Title: Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations.
Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Title: Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia.
Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Title: Homozygous variants of EDAR underlying hypohidrotic ectodermal dysplasia in three consanguineous families.
Alterations in the methylome of the stromal tumour microenvironment signal the presence and severity of prostate cancer.
Title: Alterations in the methylome of the stromal tumour microenvironment signal the presence and severity of prostate cancer.
study conducted to date in the Spanish population affected by ED. The EDA, EDAR, EDARADD and WNT10A genes constitute the molecular basis in 70.8% of patients with a 74.6% yield in Hypohidrotic ectodermal dysplasia and 44.4% in non-syndromic tooth agenesis.
Title: EDA, EDAR, EDARADD and WNT10A allelic variants in patients with ectodermal derivative impairment in the Spanish population.
report a mutation consisting of the first gross deletion identified in this gene (c.131-?_189+?del), with a recessive mode of inheritance
Title: First homozygous large deletion in EDARADD gene associated with a severe form of anhidrotic ectodermal dysplasia.
detected a novel missense mutation c.367G>A (p.Asp123Asn) in the death domain of the gene EDARADD, which co-segregated with hypohidrotic ectodermal dysplasia in the affected family. This mutation led to an impaired ability of EDARADD to activate NF-kappaB signaling.
Title: A novel missense mutation in the gene EDARADD associated with an unusual phenotype of hypohidrotic ectodermal dysplasia.
The study data demonstrate an association between SNP rs3916983 of the EDARADD gene and non-syndromic hypodontia in Chinese Han individuals.
Title: A case-control study of the association between tooth-development gene polymorphisms and non-syndromic hypodontia in the Chinese Han population.

Submit: New GeneRIF Correction See all GeneRIFs (15)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant MedGen: C3888065 OMIM: 129490 GeneReviews: Hypohidrotic Ectodermal Dysplasia	Compare labs
Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive MedGen: C3887494 OMIM: 224900 GeneReviews: Hypohidrotic Ectodermal Dysplasia	Compare labs
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant MedGen: C3541517 OMIM: 614940 GeneReviews: Not available	Compare labs
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive MedGen: C3539920 OMIM: 614941 GeneReviews: Hypohidrotic Ectodermal Dysplasia	Compare labs

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S2678 (e-PCR), detects polymorphism
- UniSTS:1808

99-13794 (e-PCR)
- UniSTS:240722

RH121427 (e-PCR)
- UniSTS:138080

SHGC-150737 (e-PCR)
- UniSTS:173160

D1S1680 (e-PCR)
- UniSTS:39305

D1S3450 (e-PCR)
- UniSTS:58011

D1S372 (e-PCR)
- UniSTS:23964

D1S2850 (e-PCR), detects polymorphism
- UniSTS:34271

AB072753 (e-PCR)
- UniSTS:479726

D1S2680 (e-PCR)
- UniSTS:81905

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytosol	TAS Traceable Author Statement more info

General protein information

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Preferred Names: ectodysplasin-A receptor-associated adapter protein

Names: EDAR associated death domain; EDAR-associated death domain protein; crinkled homolog; ectodysplasia A receptor associated death domain

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.