GCM2 glial cells missing transcription factor 2
Gene ID: 9247, updated on 2-Nov-2024Gene type: protein coding
Also known as: FIH2; GCMB; HRPT4; hGCMb
- See all available tests in GTR for this gene
- Go to complete Gene record for GCM2
- Go to Variation Viewer for GCM2 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association studies identify loci associated with age at menarche and age at natural menopause. GeneReviews: Not available | |
| Hyperparathyroidism 4 | See labs |
| Hypoparathyroidism, familial isolated, 2 | See labs |
Genomic context
- Location:
- 6p24.2
- Sequence:
- Chromosome: 6; NC_000006.12 (10873223..10882041, complement)
- Total number of exons:
- 5
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GCM2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GCM2 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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