| UniProt Protein Function: | GCM2: Probable transcriptional regulator. Defects in GCM2 are a cause of familial isolated hypoparathyroidism (FIH); also known as autosomal dominant hypoparathyroidism or autosomal dominant hypocalcemia. FIH is characterized by hypocalcemia and hyperphosphatemia due to inadequate secretion of parathyroid hormone. Symptoms are seizures, tetany and cramps. An autosomal recessive form of FIH also exists.Protein type: Transcription factor; DNA-bindingChromosomal Location of Human Ortholog: 6p23Cellular Component: nucleusMolecular Function: DNA binding; sequence-specific DNA binding; metal ion bindingBiological Process: cellular calcium ion homeostasis; cellular phosphate ion homeostasis; transcription, DNA-dependent; regulation of transcription, DNA-dependent; multicellular organismal development; cell differentiation; parathyroid gland development; negative regulation of apoptosisDisease: Hypoparathyroidism, Familial Isolated |
| UniProt Protein Details: | |
| NCBI 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. [provided by RefSeq, Jul 2008] |
| UniProt Code: | O75603 |
| NCBI GenInfo Identifier: | 33301140 |
| NCBI Gene ID: | 9247 |
| NCBI Accession: | O75603.1 |
| UniProt Secondary Accession: | O75603,Q5THN5, D3GDV6 |
| UniProt Related Accession: | O75603 |
| Molecular Weight: | 56,610 Da |
| NCBI Full Name: | Chorion-specific transcription factor GCMb |
| NCBI Synonym Full Names: | glial cells missing homolog 2 (Drosophila) |
| NCBI Official Symbol: | GCM2 |
| NCBI Official Synonym Symbols: | GCMB; hGCMb |
| NCBI Protein Information: | chorion-specific transcription factor GCMb; GCM motif protein 2; glial cells missing 2; glide/gcm protein homolog; glial cells missing homolog b |
| UniProt Protein Name: | Chorion-specific transcription factor GCMb |
| UniProt Synonym Protein Names: | GCM motif protein 2; Glial cells missing homolog 2 |
| Protein Family: | Chorion-specific transcription factor |
| UniProt Gene Name: | GCM2 |
| UniProt Entry Name: | GCM2_HUMAN |
