FOXG1 forkhead box G1
Gene ID: 2290, updated on 5-Mar-2024Gene type: protein coding
Also known as: BF1; BF2; QIN; FKH2; HBF2; HFK1; HFK2; HFK3; KHL2; FHKL3; FKHL1; FKHL2; FKHL3; FKHL4; HBF-1; HBF-2; HBF-3; FOXG1A; FOXG1B; FOXG1C; HBF-G2
- See all available tests in GTR for this gene
- Go to complete Gene record for FOXG1
- Go to Variation Viewer for FOXG1 variants
Summary
This locus encodes a member of the fork-head transcription factor family. The encoded protein, which functions as a transcriptional repressor, is highly expressed in neural tissues during brain development. Mutations at this locus have been associated with Rett syndrome and a diverse spectrum of neurodevelopmental disorders defined as part of the FOXG1 syndrome. This gene is disregulated in many types of cancer and is the target of multiple microRNAs that regulate the proliferation of tumor cells. [provided by RefSeq, Jul 2020]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common genetic variants associated with resting oxygenation in chronic obstructive pulmonary disease. GeneReviews: Not available | |
| Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium. GeneReviews: Not available | |
| Genetic variation influences glutamate concentrations in brains of patients with multiple sclerosis. GeneReviews: Not available | |
| Joint influence of small-effect genetic variants on human longevity. GeneReviews: Not available | |
| Rett syndrome, congenital variant | See labs |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2021-03-09) ClinGen Genome Curation PagePubMedTriplosensitivity No evidence available (Last evaluated 2021-03-09) ClinGen Genome Curation Page |
Genomic context
- Location:
- 14q12
- Sequence:
- Chromosome: 14; NC_000014.9 (28766787..28770277)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for FOXG1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- 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
- RettBASE
- Variation ViewerRelated Variants
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