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

    Gene ID: 128178, updated on 4-Dec-2023

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See EDARADD in Genome Data Viewer
    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_000001.11Genomic Context describing neighboring genes Neighboring gene FKBP prolyl isomerase 3 pseudogene Neighboring gene ReSE screen-validated silencer GRCh37_chr1:236453609-236453847 Neighboring gene uncharacterized LOC124904852 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2821 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr1:236528741-236529521 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2822 Neighboring gene MPRA-validated peak784 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr1:236553124-236553300 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2823 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2002 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:236588023-236588524 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2003 Neighboring gene NANOG hESC enhancer GRCh37_chr1:236634853-236635427 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:236636352-236636876 Neighboring gene Sharpr-MPRA regulatory region 2344 Neighboring gene enolase 1 pseudogene 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr1:236679601-236679779 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2004 Neighboring gene LGALS8 antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 1811 Neighboring gene galectin 8 Neighboring gene MPRA-validated peak785 silencer Neighboring gene HEAT repeat containing 1 Neighboring gene MPRA-validated peak786 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2825

    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

    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

    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)

    NEW Try the new Transcript table

    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..95551
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001422628.1NP_001409557.1  ectodysplasin-A receptor-associated adapter protein isoform C

      Status: REVIEWED

      Source sequence(s)
      AL136105, AL354693, AL450309
      UniProtKB/TrEMBL
      A0A0K0VQ49, A0A1B0GV26
      Related
      ENSP00000490347.1, ENST00000637660.1
    2. NM_080738.5NP_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)
      AL136105, AL354693
      Consensus CDS
      CCDS31065.1
      UniProtKB/TrEMBL
      A0A0K0VQ49
      Related
      ENSP00000352320.4, ENST00000359362.6
      Conserved Domains (1) summary
      pfam00531
      Location:122189
      Death; Death domain
    3. 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
      A2VCK5, A8K7B5, B1AL54, B9ZVW5, Q5VYJ7, Q8WWZ3
      UniProtKB/TrEMBL
      A0A0K0VQ49
      Related
      ENSP00000335076.4, ENST00000334232.9
      Conserved Domains (1) summary
      pfam00531
      Location:132199
      Death; Death domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      236348259..236484930
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      235750587..235884698
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)