GCM2 gene

glial cells missing homolog 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jul 2008]

From UniProt:

Probable transcriptional regulator.

From NCBI Gene:

  • Hypoparathyroidism familial isolated

From UniProt:

Hypoparathyroidism, familial isolated (FIH): A disorder characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Clinical features include seizures, tetany and cramps. [MIM:146200]

Cytogenetic Location: 6p24.2, which is the short (p) arm of chromosome 6 at position 24.2

Molecular Location: base pairs 10,873,223 to 10,881,865 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6p24.2, which is the short (p) arm of chromosome 6 at position 24.2
  • GCMB
  • hGCMb