EDA (gene)

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Ectodysplasin A
PBB Protein EDA image.jpg
PDB rendering based on 1rj7.
Available structures
PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB
Identifiers
Symbols EDA ; ED1; ED1-A1; ED1-A2; EDA1; EDA2; HED; XHED; XLHED
External IDs OMIM: 300451 MGI1195272 HomoloGene68180
RNA expression pattern
PBB GE EDA 206217 at tn.png
More reference expression data
Orthologs

| | bgcolor="#C3FDB8" | Human | bgcolor="#C3FDB8" | Mouse |-

    | bgcolor="#C3FDB8" | Entrez 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 1896
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| 13607

|-

     | bgcolor="#C3FDB8" | Ensembl
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| ENSG00000158813
     | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

    | bgcolor="#C3FDB8" | Uniprot
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| Q92838
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

    | bgcolor="#C3FDB8" | Refseq
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" | NM_001005609 (mRNA)
NP_001005609 (protein)
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd" |NM_010099 (mRNA)
NP_034229 (protein)

|-

    | bgcolor="#C3FDB8" | Location
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"|  Chr X: 68.75 - 69.18 Mb 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| na

|-

|-

    | bgcolor="#C3FDB8" | Pubmed search 
    | bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [1]
| bgcolor="#eeeeee" style="border-top:2px solid #dddddd; border-right:2px solid #dddddd"| [2]
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Ectodysplasin A, also known as EDA, is a human gene.[1]

The protein encoded by this gene is a type II membrane protein that can be cleaved by furin to produce a secreted form. The encoded protein, which belongs to the tumor necrosis factor family, acts as a homotrimer and may be involved in cell-cell signaling during the development of ectodermal organs. Defects in this gene are a cause of ectodermal dysplasia, anhidrotic, which is also known as X-linked hypohidrotic ectodermal dysplasia. Several transcript variants encoding many different isoforms have been found for this gene.[1]

References

  1. 1.0 1.1 "Entrez Gene: EDA ectodysplasin A".

Further reading

  • Cui CY, Schlessinger D (2007). "EDA signaling and skin appendage development". Cell Cycle. 5 (21): 2477–83. PMID 17102627.
  • Srivastava AK, Montonen O, Saarialho-Kere U; et al. (1996). "Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed". Am. J. Hum. Genet. 58 (1): 126–32. PMID 8554048.
  • Kere J, Srivastava AK, Montonen O; et al. (1996). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein". Nat. Genet. 13 (4): 409–16. doi:10.1038/ng0895-409. PMID 8696334.
  • Montonen O, Ezer S, Saarialho-Kere UK; et al. (1998). "The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone". J. Histochem. Cytochem. 46 (3): 281–9. PMID 9487109.
  • Ferguson BM, Thomas NS, Munoz F; et al. (1998). "Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications". J. Med. Genet. 35 (2): 112–5. PMID 9507389.
  • Hertz JM, Nørgaard Hansen K, Juncker I; et al. (1998). "A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia". Clin. Genet. 53 (3): 205–9. PMID 9630076.
  • Monreal AW, Zonana J, Ferguson B (1998). "Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations". Am. J. Hum. Genet. 63 (2): 380–9. PMID 9683615.
  • Bayés M, Hartung AJ, Ezer S; et al. (1998). "The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats". Hum. Mol. Genet. 7 (11): 1661–9. PMID 9736768.
  • Martínez F, Millán JM, Orellana C, Prieto F (1999). "X-linked anhidrotic (hypohidrotic) ectodermal dysplasia caused by a novel mutation in EDA1 gene: 406T > G (Leu55Arg)". J. Invest. Dermatol. 113 (2): 285–6. doi:10.1046/j.1523-1747.1999.00656.x. PMID 10469321.
  • Ezer S, Bayés M, Elomaa O; et al. (1999). "Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells". Hum. Mol. Genet. 8 (11): 2079–86. PMID 10484778.
  • Yan M, Wang LC, Hymowitz SG; et al. (2000). "Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors". Science. 290 (5491): 523–7. PMID 11039935.
  • Drögemüller C, Distl O, Leeb T (2001). "Identification of a highly polymorphic microsatellite within the bovine ectodysplasin A (ED1) gene on BTA Xq22-24". Anim. Genet. 31 (6): 416. PMID 11167539.
  • Elomaa O, Pulkkinen K, Hannelius U; et al. (2001). "Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein". Hum. Mol. Genet. 10 (9): 953–62. PMID 11309369.
  • Vincent MC, Biancalana V, Ginisty D; et al. (2001). "Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia". Eur. J. Hum. Genet. 9 (5): 355–63. doi:10.1038/sj.ejhg.5200635. PMID 11378824.
  • Chen Y, Molloy SS, Thomas L; et al. (2001). "Mutations within a furin consensus sequence block proteolytic release of ectodysplasin-A and cause X-linked hypohidrotic ectodermal dysplasia". Proc. Natl. Acad. Sci. U.S.A. 98 (13): 7218–23. doi:10.1073/pnas.131076098. PMID 11416205.
  • Sinha SK, Zachariah S, Quiñones HI; et al. (2003). "Role of TRAF3 and -6 in the activation of the NF-kappa B and JNK pathways by X-linked ectodermal dysplasia receptor". J. Biol. Chem. 277 (47): 44953–61. doi:10.1074/jbc.M207923200. PMID 12270937.
  • Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
  • Kobielak A, Kobielak K, Biedziak B, Trzeciak WH (2003). "A novel mutation A1270G of the EDA1 gene causing Tyr343Cys substitution in ectodysplasin-A in a family with anhidrotic ectodermal dysplasia". Acta Biochim. Pol. 50 (1): 255–8. doi:035001255 Check |doi= value (help). PMID 12673367.
  • Zhang XJ, Chen JJ, Song YX; et al. (2004). "Mutation analysis of the ED1 gene in two Chinese Han families with X-linked hypohidrotic ectodermal dysplasia". Arch. Dermatol. Res. 295 (1): 38–42. doi:10.1007/s00403-003-0394-7. PMID 12682853.
  • Nishibu A, Hashiguchi T, Yotsumoto S; et al. (2004). "A frameshift mutation of the ED1 gene in sibling cases with X-linked hypohidrotic ectodermal dysplasia". Dermatology (Basel). 207 (2): 178–81. doi:10.1159/000071790. PMID 12920369.

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