Recombinant Human Chorion-specific transcription factor GCMb (GCM2)

1. The present study investigated the prevalence of the Y282D variant of the GCM2 gene and its association with clinical parameters in patients with a definitive histological diagnosis of sporadic parathyroid carcinoma (SPC) or atypical adenoma (AA). PMID: 28609842
2. GCM2-associated primary hyperparathyroidism patients have greater preoperative parathyroid hormone levels, a greater rate of multigland disease, a lesser rate of biochemical cure PMID: 29108698
3. Our results demonstrate that germline-activating mutations affecting the C-terminal conserved inhibitory domain of GCM2 can cause familial isolated hyperparathyroidism. PMID: 27745835
4. Gata3 interacted with Gcm2 and MafB, two known transcriptional regulators of parathyroid development, and synergistically stimulated the PTH promoter. PMID: 25917456
5. 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 PMID: 25279501
6. 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 PMID: 25137426
7. 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. PMID: 24133354
8. First described GCM2 mutation in exon 3 in patients with severe congenital hypoparathyroidism. PMID: 23155703
9. Data suggest that replacement of cysteine 106 with arginine (C106R) would interfere with DNA binding of glial cells missing B (GCMB). PMID: 22066718
10. We conclude that mutations in the transcription factor GCMB do not seem to play a major role in the pathogenesis of primary hyperparathyroidism. PMID: 21642377
11. These results indicate that GCMB and vitamin D receptor are involved in the positive and negative regulation of parathyroid hormone gene expression, respectively. PMID: 20558332
12. Gcm2 is a useful adjunct marker for the diagnosis of parathyroid lesions. PMID: 21164298
13. 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. PMID: 20463099
14. 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. PMID: 20190276
15. significant association of R110W variant of GCM2 with isolated hypoparathyroidism PMID: 19940031
16. 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. PMID: 15657585
17. 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. PMID: 18182452
18. 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. PMID: 18583467
19. Glial cells missing-2 (GCM2) transactivates the calcium-sensing receptor gene PMID: 18712808
20. one function of Gcm2 is to maintain high levels of CaR expression in parathyroid cells. PMID: 19257819

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HGNC: 4198

OMIM: 146200

KEGG: hsa:9247

STRING: 9606.ENSP00000368805

UniGene: Hs.227098