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

Gene ID: 128178, updated on 6-Aug-2017
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; Vega:OTTHUMG00000039954
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]
Orthologs
Location:
1q42.3-q43
Exon count:
7
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 1 NC_000001.11 (236394380..236484708)
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 FK506 binding protein 3, 25kDa pseudogene Neighboring gene RNA, U2 small nuclear 70, pseudogene Neighboring gene enolase 1 pseudogene 1 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene uncharacterized LOC107985367 Neighboring gene galectin 8

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Cytokine Signaling in Immune system, organism-specific biosystem (from REACTOME)
    Cytokine Signaling in Immune system, organism-specific biosystemCytokines are small proteins that regulate and mediate immunity, inflammation, and hematopoiesis. They are secreted in response to immune stimuli, and usually act briefly, locally, at very low concen...
  • Immune System, organism-specific biosystem (from REACTOME)
    Immune System, organism-specific biosystemHumans are exposed to millions of potential pathogens daily, through contact, ingestion, and inhalation. Our ability to avoid infection depends on the adaptive immune system and during the first crit...
  • TNFR2 non-canonical NF-kB pathway, organism-specific biosystem (from REACTOME)
    TNFR2 non-canonical NF-kB pathway, organism-specific biosystemTumor necrosis factor-alpha (TNFA) exerts a wide range of biological effects through TNF receptor 1 (TNFR1) and TNF receptor 2 (TNFR2). Under normal physiological conditions TNFR2 exhibits more restr...
  • TNFs bind their physiological receptors, organism-specific biosystem (from REACTOME)
    TNFs bind their physiological receptors, organism-specific biosystemMembers of the tumour necrosis factor superfamily (TNFSF) and TNF receptor superfamily (TNFRSF) have crucial roles in both innate and adaptive immunity. These members are implicated in various acquir...
Products Interactant Other Gene Complex Source Pubs Description

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
 
tumor necrosis factor-mediated signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytosol TAS
Traceable Author Statement
more info
 
Preferred Names
ectodysplasin-A receptor-associated adapter protein
Names
EDAR-associated death domain protein
crinkled homolog
ectodysplasia A receptor associated death domain

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
    5001..95329
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_080738.3NP_542776.1  ectodysplasin-A receptor-associated adapter protein isoform B

    See identical proteins and their annotated locations for NP_542776.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (B) differs in the 5' region compared to variant A. It encodes an isoform (B) that contains a distinct and shorter N-terminus, as compared to isoform (A).
    Source sequence(s)
    AK096339, BC006533
    Consensus CDS
    CCDS31065.1
    UniProtKB/Swiss-Prot
    Q8WWZ3
    Related
    ENSP00000352320.4, OTTHUMP00000037858, ENST00000359362.5, OTTHUMT00000096369
    Conserved Domains (1) summary
    pfam00531
    Location:122189
    Death; Death domain
  2. NM_145861.2NP_665860.2  ectodysplasin-A receptor-associated adapter protein isoform A

    See identical proteins and their annotated locations for NP_665860.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (A) encodes a longer isoform (A).
    Source sequence(s)
    AL136105, AL354693, AY028913
    Consensus CDS
    CCDS1610.1
    UniProtKB/Swiss-Prot
    Q8WWZ3
    Related
    ENSP00000335076.4, OTTHUMP00000037857, ENST00000334232.8, OTTHUMT00000096368
    Conserved Domains (1) summary
    pfam00531
    Location:132199
    Death; Death domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p7 Primary Assembly

    Range
    236394380..236484708
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    237829988..237920874
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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