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Gene Review

GCM2  -  glial cells missing homolog 2 (Drosophila)

Homo sapiens

Synonyms: Chorion-specific transcription factor GCMb, GCM motif protein 2, GCMB, Glial cells missing homolog 2, hGCMb
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Disease relevance of GCM2


High impact information on GCM2

  • We conclude that homozygous loss of function of the GCMB gene impairs normal parathyroid gland embryology and is responsible for isolated hypoparathyroidism in a subset of patients with this disease [5].
  • We defined the boundaries of the five exons of the human GCMB gene and then identified a large intragenic mutation in the GCMB genes of the proband of an extensive kindred with isolated hypoparathyroidism [5].
  • Despite an absence of any history of consanguinity, microsatellite analysis showed shared genotypes that flanked the GCMB gene over a span of 5 cM, suggesting that both of the proband's GCMB alleles had been derived from a single common ancestor [5].
  • Functional studies in transfected cells showed that the mutation caused loss of GCMB function, as it abolished transactivation capacity, despite normal subcellular localization, protein stability, and DNA-binding specificity [6].
  • The mutation consisted of the substitution of a glycine residue with a serine at position 63 (G63S) in the DNA-binding GCM domain of GCMB [6].

Biological context of GCM2


Anatomical context of GCM2

  • GCMA and GCMB are related transcription factors that are critically important for embryological development of the placenta and parathyroid glands, respectively [1].
  • A novel human homologue (GCMB) of the Drosophila glial cells missing gene (dGCM) was isolated using RACE [2].
  • Using organ-specific markers, we have previously shown that thymus and parathyroid-specific organ domains are established within the primordium prior to formation of the organs proper: Gcm2 expression defines the prospective parathyroid cells in the dorsal pouch from E9.5, while Foxn1 is expressed in the thymus domain from E11.25 [7].

Other interactions of GCM2


Analytical, diagnostic and therapeutic context of GCM2


  1. Expression of GCMB by intrathymic parathyroid hormone-secreting adenomas indicates their parathyroid cell origin. Maret, A., Bourdeau, I., Ding, C., Kadkol, S.S., Westra, W.H., Levine, M.A. J. Clin. Endocrinol. Metab. (2004) [Pubmed]
  2. Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene. Kanemura, Y., Hiraga, S., Arita, N., Ohnishi, T., Izumoto, S., Mori, K., Matsumura, H., Yamasaki, M., Fushiki, S., Yoshimine, T. FEBS Lett. (1999) [Pubmed]
  3. GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism. Kebebew, E., Peng, M., Wong, M.G., Ginzinger, D., Duh, Q.Y., Clark, O.H. Surgery (2004) [Pubmed]
  4. Underexpression of Gcm2, a master regulatory gene of parathyroid gland development, in adenomas of primary hyperparathyroidism. Correa, P., Akerström, G., Westin, G. Clin. Endocrinol. (Oxf) (2002) [Pubmed]
  5. Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. Ding, C., Buckingham, B., Levine, M.A. J. Clin. Invest. (2001) [Pubmed]
  6. GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone. Thomée, C., Schubert, S.W., Parma, J., Lê, P.Q., Hashemolhosseini, S., Wegner, M., Abramowicz, M.J. J. Clin. Endocrinol. Metab. (2005) [Pubmed]
  7. Bmp4 and Noggin expression during early thymus and parathyroid organogenesis. Patel, S.R., Gordon, J., Mahbub, F., Blackburn, C.C., Manley, N.R. Gene Expr. Patterns (2006) [Pubmed]
  8. Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism. Baumber, L., Tufarelli, C., Patel, S., King, P., Johnson, C.A., Maher, E.R., Trembath, R.C. J. Med. Genet. (2005) [Pubmed]
  9. Serial right ventricular endomyocardial biopsy in rapid-onset severe heart failure due to giant cell myocarditis. van Haelst, P.L., Brügemann, J., Diercks, G.F., Suurmeijer, A., van Veldhuisen, D.J. Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology. (2006) [Pubmed]
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