Gene: GCM2
Alternate names for this Gene: FIH2|GCMB|HRPT4|hGCMb
Gene Summary: This gene is a homolog of the Drosophila glial cells missing gene, which is thought to act as a binary switch between neuronal and glial cell determination. The protein encoded by this gene contains a conserved N-terminal GCM motif that has DNA-binding activity. The protein is a transcription factor that acts as a master regulator of parathyroid development. It has been suggested that this transcription factor might mediate the effect of calcium on parathyroid hormone expression and secretion in parathyroid cells. Mutations in this gene are associated with hypoparathyroidism.
Gene is located in Chromosome: 6
Location in Chromosome : 6p24.2
Description of this Gene: glial cells missing transcription factor 2
Type of Gene: protein-coding
rs142287570 in
GCM2 gene and
HYPERPARATHYROIDISM 4
PMID 27745835 2016 GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
rs104893959 in
GCM2 gene and
Hypoparathyroidism familial isolated
PMID 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.
PMID 15863676 2005 Identification of a novel mutation disrupting the DNA binding activity of GCM2 in autosomal recessive familial isolated hypoparathyroidism.
PMID 20463099 2010 A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.
PMID 15728199 2005 GCMB mutation in familial isolated hypoparathyroidism with residual secretion of parathyroid hormone.
PMID 23155703 2012 A novel mutation in the GCM2 gene causing severe congenital isolated hypoparathyroidism.