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Gene Review

LAMC2  -  laminin, gamma 2

Homo sapiens

Synonyms: B2T, BM600, BM600-100kDa, CSF, CSF 140 kDa subunit, ...
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Disease relevance of LAMC2


High impact information on LAMC2


Biological context of LAMC2


Anatomical context of LAMC2


Associations of LAMC2 with chemical compounds

  • Furthermore, we present evidence that implicates mutations in the kalinin/laminin 5 gamma 2 chain gene (LAMC2) in some forms of junctional EB [16].
  • EB has been described in several species, like cattle, sheep, dogs, cats and horses where the mutation, a cytosine insertion in exon 10 of the LAMC2 gene, was very recently identified in Belgian horses as the mutation responsible for JEB [17].
  • This bacterium, designated strain B2T, represents aerobic, gram-negative, colourless, non-motile, curved coccoids that form conglomerates covered by an extracellular polysaccharide matrix [18].
  • Three of them were obtained with methanol (strains H1M, H3M, and B1M), three strains with triethylene glycol (strains H1T, B1T, and B2T) and one strain with a mixture of lactate, acetate and butyrate (strain H1-13) [19].
  • In uninvolved, perilesional and early pre-blistered lesional BP skin the distribution of both the alpha 6 and beta 4 integrin subunits, BPA laminin, collagen types IV and VII and the BM600 antigen was identical to normal skin, i.e. a linear band in the BMZ [20].

Other interactions of LAMC2

  • Collectively, five mutations appeared to be frequent in laminin-5 JEB patients: R635X, 29insC, E210K, W143X in LAMB3 and R95X in LAMC2 [21].
  • Laminin-5 is a heterotrimer protein consisting of the alpha3, beta3, and gamma2 chains, and another unique component of laminin-5 is the gamma2 chain encoded by the LAMC2 gene [22].
  • Expression and topography of integrins and basement membrane proteins in epidermal carcinomas: basal but not squamous cell carcinomas display loss of alpha 6 beta 4 and BM-600/nicein [23].
  • The localization and sensitivity of basement membrane components (bullous pemphigoid antigen, BM 600/nicein, epiligrin, kalinin, laminin, collagens IV and VII (EBA antigen) and linkin) were determined after the DEJ was fractured by each method [24].
  • RESULTS: Four genes were demonstrated to be consistently overexpressed in invasive cervical cancer biopsies; three novel genes not previously related to cervical cancer: MMP10, Lamc2 and Claudin 1 [25].

Analytical, diagnostic and therapeutic context of LAMC2


  1. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Aberdam, D., Galliano, M.F., Vailly, J., Pulkkinen, L., Bonifas, J., Christiano, A.M., Tryggvason, K., Uitto, J., Epstein, E.H., Ortonne, J.P. Nat. Genet. (1994) [Pubmed]
  2. Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Pulkkinen, L., Christiano, A.M., Airenne, T., Haakana, H., Tryggvason, K., Uitto, J. Nat. Genet. (1994) [Pubmed]
  3. Aberrant promoter methylation and silencing of laminin-5-encoding genes in breast carcinoma. Sathyanarayana, U.G., Padar, A., Huang, C.X., Suzuki, M., Shigematsu, H., Bekele, B.N., Gazdar, A.F. Clin. Cancer Res. (2003) [Pubmed]
  4. Aberrant promoter methylation of laminin-5-encoding genes in prostate cancers and its relationship to clinicopathological features. Sathyanarayana, U.G., Padar, A., Suzuki, M., Maruyama, R., Shigematsu, H., Hsieh, J.T., Frenkel, E.P., Gazdar, A.F. Clin. Cancer Res. (2003) [Pubmed]
  5. Molecular analysis of the human laminin alpha3a chain gene (LAMA3a): a strategy for mutation identification and DNA-based prenatal diagnosis in Herlitz junctional epidermolysis bullosa. Pulkkinen, L., Cserhalmi-Friedman, P.B., Tang, M., Ryan, M.C., Uitto, J., Christiano, A.M. Lab. Invest. (1998) [Pubmed]
  6. Epiligrin, the major human keratinocyte integrin ligand, is a target in both an acquired autoimmune and an inherited subepidermal blistering skin disease. Domloge-Hultsch, N., Gammon, W.R., Briggaman, R.A., Gil, S.G., Carter, W.G., Yancey, K.B. J. Clin. Invest. (1992) [Pubmed]
  7. A truncated laminin chain homologous to the B2 chain: structure, spatial expression, and chromosomal assignment. Kallunki, P., Sainio, K., Eddy, R., Byers, M., Kallunki, T., Sariola, H., Beck, K., Hirvonen, H., Shows, T.B., Tryggvason, K. J. Cell Biol. (1992) [Pubmed]
  8. A large cell-adhesive scatter factor secreted by human gastric carcinoma cells. Miyazaki, K., Kikkawa, Y., Nakamura, A., Yasumitsu, H., Umeda, M. Proc. Natl. Acad. Sci. U.S.A. (1993) [Pubmed]
  9. Quantitative analysis of laminin 5 gene expression in human keratinocytes. Akutsu, N., Amano, S., Nishiyama, T. Exp. Dermatol. (2005) [Pubmed]
  10. Molecular detection of noninvasive and invasive bladder tumor tissues and exfoliated cells by aberrant promoter methylation of laminin-5 encoding genes. Sathyanarayana, U.G., Maruyama, R., Padar, A., Suzuki, M., Bondaruk, J., Sagalowsky, A., Minna, J.D., Frenkel, E.P., Grossman, H.B., Czerniak, B., Gazdar, A.F. Cancer Res. (2004) [Pubmed]
  11. Laminin 5 genes and Herlitz junctional epidermolysis bullosa: novel mutations and polymorphisms in the LAMB3 and LAMC2 genes. Mutations in brief no. 190. Online. Kon, A., Pulkkinen, L., Hara, M., Tamai, K., Tagami, H., Hashimoto, I., Uitto, J. Hum. Mutat. (1998) [Pubmed]
  12. Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. Pulkkinen, L., Meneguzzi, G., McGrath, J.A., Xu, Y., Blanchet-Bardon, C., Ortonne, J.P., Christiano, A.M., Uitto, J. J. Invest. Dermatol. (1997) [Pubmed]
  13. Novel mutations in the LAMC2 gene in non-Herlitz junctional epidermolysis bullosa: effects on laminin-5 assembly, secretion, and deposition. Castiglia, D., Posteraro, P., Spirito, F., Pinola, M., Angelo, C., Puddu, P., Meneguzzi, G., Zambruno, G. J. Invest. Dermatol. (2001) [Pubmed]
  14. Involvement of activator protein 1 complexes in the epithelium-specific activation of the laminin gamma2-chain gene promoter by hepatocyte growth factor (scatter factor). Olsen, J., Lefebvre, O., Fritsch, C., Troelsen, J.T., Orian-Rousseau, V., Kedinger, M., Simon-Assmann, P. Biochem. J. (2000) [Pubmed]
  15. Laminin-5 promotes adhesion and migration of epithelial cells: identification of a migration-related element in the gamma2 chain gene (LAMC2) with activity in transgenic mice. Salo, S., Haakana, H., Kontusaari, S., Hujanen, E., Kallunki, T., Tryggvason, K. Matrix Biol. (1999) [Pubmed]
  16. Molecular basis of the dystrophic and junctional forms of epidermolysis bullosa: mutations in the type VII collagen and kalinin (laminin 5) genes. Uitto, J., Pulkkinen, L., Christiano, A.M. J. Invest. Dermatol. (1994) [Pubmed]
  17. A mutation in the LAMC2 gene causes the Herlitz junctional epidermolysis bullosa (H-JEB) in two French draft horse breeds. Milenkovic, D., Chaffaux, S., Taourit, S., Guérin, G. Genet. Sel. Evol. (2003) [Pubmed]
  18. Methylocapsa acidiphila gen. nov., sp. nov., a novel methane-oxidizing and dinitrogen-fixing acidophilic bacterium from Sphagnum bog. Dedysh, S.N., Khmelenina, V.N., Suzina, N.E., Trotsenko, Y.A., Semrau, J.D., Liesack, W., Tiedje, J.M. Int. J. Syst. Evol. Microbiol. (2002) [Pubmed]
  19. Isolation of sulfate-reducing bacteria from the terrestrial deep subsurface and description of Desulfovibrio cavernae sp. nov. Sass, H., Cypionka, H. Syst. Appl. Microbiol. (2004) [Pubmed]
  20. The distribution of alpha 6 beta 4 integrins in lesional and non-lesional skin in bullous pemphigoid. Venning, V.A., Allen, J., Aplin, J.D., Kirtschig, G., Wojnarowska, F. Br. J. Dermatol. (1992) [Pubmed]
  21. Laminin-5 mutational analysis in an Italian cohort of patients with junctional epidermolysis bullosa. Posteraro, P., De Luca, N., Meneguzzi, G., El Hachem, M., Angelo, C., Gobello, T., Tadini, G., Zambruno, G., Castiglia, D. J. Invest. Dermatol. (2004) [Pubmed]
  22. Differential expression of the LAMB3 and LAMC2 genes between small cell and non-small cell lung carcinomas. Manda, R., Kohno, T., Niki, T., Yamada, T., Takenoshita, S., Kuwano, H., Yokota, J. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  23. Expression and topography of integrins and basement membrane proteins in epidermal carcinomas: basal but not squamous cell carcinomas display loss of alpha 6 beta 4 and BM-600/nicein. Savoia, P., Trusolino, L., Pepino, E., Cremona, O., Marchisio, P.C. J. Invest. Dermatol. (1993) [Pubmed]
  24. Labeling of fractured human skin with antibodies to BM 600/nicein, epiligrin, kalinin and other matrix components. Ceilley, E., Watanabe, N., Shapiro, D., Verrando, P., Bauer, E.A., Burgeson, R., Briggaman, R.A., Woodley, D.T. J. Dermatol. Sci. (1993) [Pubmed]
  25. Gene identification by cDNA arrays in HPV-positive cervical cancer. Vázquez-Ortíz, G., Ciudad, C.J., Piña, P., Vazquez, K., Hidalgo, A., Alatorre, B., Garcia, J.A., Salamanca, F., Peralta-Rodriguez, R., Rangel, A., Salcedo, M. Arch. Med. Res. (2005) [Pubmed]
  26. Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa. Pulkkinen, L., McGrath, J., Airenne, T., Haakana, H., Tryggvason, K., Kivirikko, S., Meneguzzi, G., Ortonne, J.P., Christiano, A.M., Uitto, J. Mol. Med. (1997) [Pubmed]
  27. The epithelium-tooth interface--a basal lamina rich in laminin-5 and lacking other known laminin isoforms. Hormia, M., Sahlberg, C., Thesleff, I., Airenne, T. J. Dent. Res. (1998) [Pubmed]
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