GFI1B (Growth Factor Independent 1B Transcriptional Repressor)
A key hematopoietic transcription factor implicated in blood disorders and leukemia
Gene Information Card
| Symbol | GFI1B |
|---|---|
| Full Name | Growth Factor Independent 1B Transcriptional Repressor |
| Gene Type | protein-coding |
| Chromosomal Location | 9q34.13 |
| NCBI Gene ID | 8328 ncbi.nlm.nih.gov/gene/8328 |
| Ensembl ID | ENSG00000115568 |
| UniProt ID | Q5VTD9 |
| OMIM ID | 604383 |
| HGNC ID | 4238 |
| Aliases | GFI-1B, FLJ11232, MGC126595 |
Description
GFI1B encodes a zinc-finger transcriptional repressor that is essential for normal hematopoiesis. It regulates the differentiation and survival of erythroid and megakaryocytic lineages, and also plays roles in lymphoid and myeloid development. Mutations in GFI1B are associated with inherited bleeding disorders and have been implicated in leukemogenesis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Bleeding disorder, platelet-type, 17 | Loss-of-function mutations impair megakaryocyte differentiation, leading to macrothrombocytopenia and platelet dysfunction. | ClinVar, OMIM |
| Acute myeloid leukemia (AML) | GFI1B overexpression or aberrant splicing may block differentiation and promote leukemic transformation. | COSMIC, PubMed |
| Myelodysplastic syndrome (MDS) | Somatic mutations and altered expression contribute to dysplastic hematopoiesis. | COSMIC, PubMed |
| Erythroleukemia | GFI1B dysregulation affects erythroid differentiation, contributing to malignant transformation. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | 25.4 | High |
| Spleen | 12.3 | Medium |
| Thymus | 8.7 | Medium |
| Lymph Node | 6.2 | Low |
| Blood | 4.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K562 (leukemia) | 45.2 | High expression; used as model for erythroid/megakaryocytic differentiation |
| HL-60 (promyelocytic) | 18.9 | Moderate expression; myeloid lineage |
| Jurkat (T-cell leukemia) | 3.1 | Low expression; lymphoid lineage |
| HEK293 (embryonic kidney) | 0.5 | Very low; non-hematopoietic control |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Gln287* | Nonsense | Rare | Loss-of-function; causes thrombocytopenia |
| p.Arg340Cys | Missense | Rare | Impaired DNA binding; dominant-negative effect |
| p.Leu348Pro | Missense | Rare | Disrupts zinc finger domain; loss of function |
| c.745+1G>A | Splice site | Rare | Aberrant splicing; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic mutations are loss-of-function, leading to haploinsufficiency or truncated proteins that fail to repress target genes, causing defective megakaryopoiesis and thrombocytopenia.
Gain of Function (GOF)
Rare gain-of-function mutations may enhance repressive activity, potentially contributing to leukemic transformation by silencing differentiation genes.
Dominant Negative (DN)
Some missense mutations in the DNA-binding domain produce proteins that bind but cannot repress, interfering with wild-type GFI1B function.
View complete mutation data：
Gene Ontology (GO)
| • DNA-binding transcription factor activity | • RNA polymerase II cis-regulatory region sequence-specific DNA binding |
| • protein homodimerization activity | • chromatin binding |
| • negative regulation of transcription by RNA polymerase II | • regulation of cell differentiation |
| • erythrocyte differentiation | • megakaryocyte differentiation |
| • hemopoiesis | • cell population proliferation |
Pathways
• Hematopoietic stem cell differentiation
• Erythropoiesis
• Megakaryopoiesis and platelet production
• Transcriptional regulation by GFI1B
Protein Summary
GFI1B is a 330-amino acid nuclear protein containing six C2H2-type zinc fingers that mediate sequence-specific DNA binding. It functions as a transcriptional repressor by recruiting histone deacetylases and other co-repressors. It is critical for the development of erythroid and megakaryocytic cells, and also regulates quiescence of hematopoietic stem cells. Alternative splicing produces multiple isoforms with distinct functions.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| GFI1B Knockout HEK293 Cell Line | EDJ-KQ6199 | Human | 8328 | Details Get a Quote |
| GFI1B Knockout HeLa Cell Line | EDJ-KQ54856 | Human | 8328 | Details Get a Quote |
| GFI1B Knockout A-549 Cell Line | EDJ-KQ63343 | Human | 8328 | Details Get a Quote |
| GFI1B Knockout HCT 116 Cell Line | EDJ-KQ71812 | Human | 8328 | Details Get a Quote |
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