GCM2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GCM2 |
| Official Name | glial cells missing transcription factor 2 [Source:HGNC Symbol;Acc:HGNC:4198] |
| Ensembl ID | ENSG00000124827 |
| Bio databases IDs | |
| Aliases | glial cells missing transcription factor 2 |
| Synonyms | FIH2, Gcm1, Gcm1-rs2, GCMB, Gcm-rs1, glial cells missing homolog 2, glial cells missing transcription factor 2, hGCMb, HRPT4 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GCM2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA polymerase II transcription factor activity, sequence-specific DNA binding
- GCM motif protein
- transcription regulator
- DNA binding domain
- double-stranded DNA binding
- protein binding
- sequence-specific DNA binding
- transcription factor activity
- DNA binding
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- global developmental delay with intellectual disability
- familial isolated hypoparathyroidism type 2
- hypoplasia
- hyperphosphatemia
- familial isolated hypoparathyroidism
- hypoparathyroidism
- hypocalcemia
- hyperparathyroidism type 4
- hyperparathyroidism
- hypophosphatemia
role in cell
- apoptosis
- differentiation
- homeostasis in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GCM2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- gliogenesis
- transcription from RNA polymerase II promoter
- positive regulation of transcription from RNA polymerase II promoter
- parathyroid gland development
- cellular phosphate ion homeostasis
- regulation of transcription from RNA polymerase II promoter
- cellular calcium ion homeostasis
Cellular Component
Where in the cell the gene product is active
- nucleus
- chromatin
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding
- metal ion binding
- RNA polymerase II core promoter proximal region sequence-specific DNA binding
- RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription
- sequence-specific DNA binding
- sequence-specific DNA binding RNA polymerase II transcription factor activity