GeneID: 263


Common Name: FLG2 Type: Gene
Chromosome: 1 (NC_000001.11) Locus: NM_001014342.2 (FLG2)
HUGO Symbol: FLG2 Full Name: filaggrin family member 2
Exons: 3 Introns: 2

The FLG2 gene encodes a member of the S100 fused-type protein (SFTP) family. It is a histidine- and glutamine-rich protein of approximately 248 kDa with structural features shared by the filaggrin (FLG) group. The SFTP proteins are essential components that maintain epithelial homeostasis and barrier function. FLG2 is expressed in several tissues, including skin, thymus, stomach, tonsils, testis and placenta, and is upregulated upon Ca2+ stimulation in cultured keratinocytes. It is essential for normal cell-cell adhesion in the cornified cell layers, as well as for proper integrity and mechanical strength of the stratum corneum of the epidermis. Defects in this gene have been associated with skin diseases. A variant in FLG2 associated with persistent atopic dermatitis and is also a probable contributor to a genetic predisposition to leg ulcers in sickle cell anaemia, possibly because it weakens the protective barrier of the skin, compromising healing.

Synonyms: IFPS , PSS6


Sequence Viewer

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Publications / Origin

  1. Wu Z, Hansmann B, Meyer-Hoffert U, Gläser R, Schröder JM, Molecular identification and expression analysis of filaggrin-2, a member of the S100 fused-type protein family., PLoS ONE, 4(4), e5227, 2009 PubMed
  2. Bolling MC, Jan SZ, Pasmooij AMG, Lemmink HH, Franke LH, Yenamandra VK, Sinke RJ, van den Akker PC, Jonkman MF, Generalized Ichthyotic Peeling Skin Syndrome due to FLG2 Mutations., J. Invest. Dermatol., 138(8), 1881-1884, 2018 PubMed
  3. Mohamad J, Sarig O, Godsel LM, Peled A, Malchin N, Bochner R, Vodo D, Rabinowitz T, Pavlovsky M, Taiber S, Fried M, Eskin-Schwartz M, Assi S, Shomron N, Uitto J, Koetsier JL, Bergman R, Green KJ, Sprecher E, Filaggrin 2 Deficiency Results in Abnormal Cell-Cell Adhesion in the Cornified Cell Layers and Causes Peeling Skin Syndrome Type A., J. Invest. Dermatol., 138(8), 1736-1743, 2018 PubMed
  4. de Carvalho-Siqueira GQ, Ananina G, de Souza BB, Borges MG, Ito MT, da Silva-Costa SM, de Farias Domingos I, Falcão DA, Lopes-Cendes I, Bezerra MAC, da Silva Araújo A, Lucena-Araújo AR, de Souza Gonçalves M, Saad STO, Costa FF, de Melo MB, Whole-exome sequencing indicates FLG2 variant associated with leg ulcers in Brazilian sickle cell anemia patients., Exp. Biol. Med. (Maywood), 2019 PubMed
Created on 2019-07-02 10:37:22, Last reviewed on (Show full history)

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