GFI1B growth factor independent 1B transcriptional repressor
Gene ID: 8328, updated on 7-Apr-2024Gene type: protein coding
Also known as: BDPLT17; ZNF163B
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- Go to complete Gene record for GFI1B
- Go to Variation Viewer for GFI1B variants
Summary
This gene encodes a zinc-finger containing transcriptional regulator that is primarily expressed in cells of hematopoietic lineage. The encoded protein complexes with numerous other transcriptional regulatory proteins including GATA-1, runt-related transcription factor 1 and histone deacetylases to control expression of genes involved in the development and maturation of erythrocytes and megakaryocytes. Mutations in this gene are the cause of the autosomal dominant platelet disorder, platelet-type bleeding disorder-17. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Platelet-type bleeding disorder 17 | See labs |
Genomic context
- Location:
- 9q34.13
- Sequence:
- Chromosome: 9; NC_000009.12 (132945531..132993434)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for GFI1B 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
- Variation ViewerRelated Variants
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