GFI1 growth factor independent 1 transcriptional repressor
Gene ID: 2672, updated on 2-Nov-2024Gene type: protein coding
Also known as: SCN2; GFI-1; GFI1A; ZNF163
- See all available tests in GTR for this gene
- Go to complete Gene record for GFI1
- Go to Variation Viewer for GFI1 variants
Summary
This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofactors to control histone modifications that lead to silencing of the target gene promoters. Mutations in this gene cause autosomal dominant severe congenital neutropenia, and also dominant nonimmune chronic idiopathic neutropenia of adults, which are heterogeneous hematopoietic disorders that cause predispositions to leukemias and infections. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Neutropenia, severe congenital, 2, autosomal dominant | not available |
| Nonimmune chronic idiopathic neutropenia of adults | not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2024-07-22) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2024-07-22) ClinGen Genome Curation Page |
Genomic context
- Location:
- 1p22.1
- Sequence:
- Chromosome: 1; NC_000001.11 (92473043..92486925, complement)
- Total number of exons:
- 9
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for GFI1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- GFI1 database
- GFI1base: Mutation registry for SCN and NI-CINA
- 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.