GCM2

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.

Full Name

GCM2

Function

Transcription factor that binds specific sequences on gene promoters and activate their transcription. Through the regulation of gene transcription, may play a role in parathyroid gland development.

Biological Process

Cellular calcium ion homeostasis Source: UniProtKB
Cellular phosphate ion homeostasis Source: UniProtKB
Gliogenesis Source: GO_Central
Multicellular organism development Source: UniProtKB
Parathyroid gland development Source: UniProtKB
Regulation of transcription by RNA polymerase II Source: GO_Central
Transcription by RNA polymerase II Source: UniProtKB

Cellular Location

Nucleus

Involvement in disease

Hypoparathyroidism, familial isolated, 2 (FIH2):
An autosomal recessive form of hypoparathyroidism, a disorder characterized by hypocalcemia and hyperphosphatemia due to a deficiency of parathyroid hormone. Clinical features include seizures, tetany and cramps.
Hyperparathyroidism 4 (HRPT4):
A form of familial primary hyperparathyroidism, a hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone due to parathyroid hyperplasia or neoplasms. Clinical features include hypercalcemia, phosphaturia, and increased bone resorption. HRPT4 inheritance is autosomal dominant.