Property Summary

NCBI Gene PubMed Count 28
PubMed Score 139.65
PubTator Score 54.30

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 9.2e-03

Gene RIF (18)

PMID Text
25917456 Gata3 interacted with Gcm2 and MafB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter.
25279501 The higher frequency of GCM2 282D in primary hyperparathyroidismand enhanced transcriptional activity of this variant supports the notion that it could contribute causally to parathyroid tumorigenesis
25137426 we identified the genetic defect in 35% of hypoparathyroidism patients in our cohort and discovered novel GCM2 mutations including submicroscopic deletion that was undetectable by array comparative genomic hybridization
24133354 Four single nucleotide polymorphisms of GCMB gene were found in the GCMB gene (c.-44T > C [rs16870746], c.91-242A > G [rs9379881], c.343+163G > A [rs9393726], and c.583-72A > T [rs2076257]) in our cohort.
23155703 First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism.
22066718 Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB).
21642377 We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of primary hyperparathyroidism.
21164298 Gcm2 is a useful adjunct marker for the diagnosis of parathyroid lesions.
20558332 These results indicate that GCMB and vitamin D receptor are involved in the positive and negative regulation of parathyroid hormone gene expression, respectively.
20463099 Our results have identified the first dominant missense GCMB mutation and help to increase our understanding of the mechanism underlying gene transactivation that is a prerequisite for the function of this parathyroid gland-specific transcription factor.
20190276 These results expand the spectrum of hypoparathyroidism-associated GCMB mutations and help elucidate the molecular mechanisms underlying DNA-binding and transactivation that are required for this parathyroid-specific transcription factor.
19940031 significant association of R110W variant of GCM2 with isolated hypoparathyroidism
19940031 Observational study of gene-disease association. (HuGE Navigator)
19257819 one function of Gcm2 is to maintain high levels of CaR expression in parathyroid cells.
18712808 Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene
18583467 The dominant-negative effect observed in vitro for both GCMB mutations provides a plausible explanation for the impaired PTH secretion observed in the two unrelated families with autosomal dominant form of hypoparathyroidism.
18182452 Although GCM2 mutations appear to be an uncommon cause of isolated hypoparathyroidism, the wide variety of GCM2 polymorphisms suggests that variant alleles may have a role in determining parathyroid function.
15657585 The glial cell missing gene, GCMB , encodes a transcription factor, which is a master regulator of parathyroid development. GCMB expression is upregulated in abnormal parathyroid glands of hyperparathyroidism and decreases in response to hypocalcemia.

AA Sequence

MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDGYVRFIYSSDEKKAQRHLSGWAMRNTN      1 - 70
NHNGHILKKSCLGVVVCTQACTLPDGSRLQLRPAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTN     71 - 140
FWRLDGNAIFFQAKGVHDHPRPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPP    141 - 210
LENPEDFDIVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYELANP    211 - 280
GYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWKPALGKPSLVERTNHGQ    281 - 350
FQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQAYQPPAMKYSDSVREVKSLSSCNYAPED    351 - 420
TGMSVYPEPWGPPVTVTRAASPSGPPPMKIAGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVS    421 - 490
YSDRVGPFFTYNNEDF                                                          491 - 506
//

Text Mined References (28)

PMID Year Title
25917456 2015 Gata3 cooperates with Gcm2 and MafB to activate parathyroid hormone gene expression by interacting with SP1.
25416956 2014 A proteome-scale map of the human interactome network.
25279501 2014 Increased prevalence of the GCM2 polymorphism, Y282D, in primary hyperparathyroidism: analysis of three Italian cohorts.
25137426 2014 Comprehensive next-generation sequencing analyses of hypoparathyroidism: identification of novel GCM2 mutations.
24133354 2013 Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
23155703 2012 A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.
22066718 2012 Identification and characterization of C106R, a novel mutation in the DNA-binding domain of GCMB, in a family with autosomal-dominant hypoparathyroidism.
21642377 2011 Mutational analysis of GCMB, a parathyroid-specific transcription factor, in parathyroid adenoma of primary hyperparathyroidism.
21164298 2011 Study of parathyroid transcription factor Gcm2 expression in parathyroid lesions.
20558332 2010 Involvement of GCMB in the transcriptional regulation of the human parathyroid hormone gene in a parathyroid-derived cell line PT-r: effects of calcium and 1,25(OH)2D3.
20463099 2010 A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
20190276 2010 Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.
19940031 2010 Presence and significance of a R110W mutation in the DNA-binding domain of GCM2 gene in patients with isolated hypoparathyroidism and their family members.
19448621 2009 Genome-wide association studies identify loci associated with age at menarche and age at natural menopause.
19257819 2009 Calcium-sensing receptor expression is regulated by glial cells missing-2 in human parathyroid cells.
18712808 2009 Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene: effect of a dominant-negative GCM2 mutant associated with autosomal dominant hypoparathyroidism.
18583467 2008 Dominant-negative GCMB mutations cause an autosomal dominant form of hypoparathyroidism.
18182452 2008 Analysis of the GCM2 gene in isolated hypoparathyroidism: a molecular and biochemical study.
15863676 2005 Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
15728199 2005 GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
15657585 2004 GCMB gene, a master regulator of parathyroid gland development, expression, and regulation in hyperparathyroidism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14715818 2004 Expression of GCMB by intrathymic parathyroid hormone-secreting adenomas indicates their parathyroid cell origin.
14574404 2003 The DNA sequence and analysis of human chromosome 6.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12354132 2002 Underexpression of Gcm2, a master regulatory gene of parathyroid gland development, in adenomas of primary hyperparathyroidism.
10343099 1999 GCMB, a second human homolog of the fly glide/gcm gene.
9928992 1999 Isolation and expression analysis of a novel human homologue of the Drosophila glial cells missing (gcm) gene.