Format

Send to:

Choose Destination

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

Gene ID: 128178, updated on 13-Mar-2020

Summary

Official Symbol
EDARADDprovided by HGNC
Official Full Name
EDAR associated death domainprovided by HGNC
Primary source
HGNC:HGNC:14341
See related
Ensembl:ENSG00000186197 MIM:606603
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
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

Genomic context

See EDARADD in Genome Data Viewer
Location:
1q42.3-q43
Exon count:
7
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 1 NC_000001.11 (236394286..236484930)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (236557680..236648008)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene endoplasmic reticulum oxidoreductase 1 beta Neighboring gene FKBP prolyl isomerase 3 pseudogene Neighboring gene RNA, U2 small nuclear 70, pseudogene Neighboring gene Sharpr-MPRA regulatory region 2344 Neighboring gene enolase 1 pseudogene 1 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene galectin 8

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
multicellular organism development IEA
Inferred from Electronic Annotation
more info
 
positive regulation of NIK/NF-kappaB signaling IEA
Inferred from Electronic Annotation
more info
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
ectodysplasin-A receptor-associated adapter protein
Names
EDAR-associated death domain protein
crinkled homolog
ectodysplasia A receptor associated death domain

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_011566.1 RefSeqGene

    Range
    4907..95530
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080738.4NP_542776.1  ectodysplasin-A receptor-associated adapter protein isoform B

    See identical proteins and their annotated locations for NP_542776.1

    Status: REVIEWED

    Source sequence(s)
    AK096339, AL136105, AL354693, BC006533
    Consensus CDS
    CCDS31065.1
    UniProtKB/Swiss-Prot
    Q8WWZ3
    Related
    ENSP00000352320.4, ENST00000359362.5
    Conserved Domains (1) summary
    pfam00531
    Location:122189
    Death; Death domain
  2. NM_145861.4NP_665860.2  ectodysplasin-A receptor-associated adapter protein isoform A

    See identical proteins and their annotated locations for NP_665860.2

    Status: REVIEWED

    Source sequence(s)
    AL136105, AL354693
    Consensus CDS
    CCDS1610.1
    UniProtKB/Swiss-Prot
    Q8WWZ3
    Related
    ENSP00000335076.4, ENST00000334232.8
    Conserved Domains (1) summary
    pfam00531
    Location:132199
    Death; Death domain

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p13 Primary Assembly

    Range
    236394286..236484930
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Support Center