GFI1B Chromosome 9
Growth factor independent 1B transcriptional repressor
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What This Gene Does
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]
Gene Info
Gene Group
"Zinc fingers C2H2-type|SNAG transcriptional repressors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000165702
Associated Conditions (5)
Platelet-type bleeding disorder 17
Inborn genetic diseases
Storage pool disease of platelets
Abnormal bleeding
Thrombocytopenia
Key Variants
RS527297896
Conflicting classifications of pathogenicity
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS376762177
Likely pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS570058270
Likely pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS1554724691
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1554724694
Pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS1564180346
Pathogenic
Storage pool disease of platelets, Storage pool disease of platelets
Health Risk
RS1849228141
Pathogenic
Abnormal bleeding, Thrombocytopenia, Abnormal bleeding
Health Risk
RS397989794
Pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS587777211
Pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS761044764
Pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
RS762304847
Pathogenic
Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS527297896 | Health Risk | Conflicting classifications of pathogenicity | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS376762177 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS570058270 | Health Risk | Likely pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS1554724691 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1554724694 | Health Risk | Pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS1564180346 | Health Risk | Pathogenic | Storage pool disease of platelets, Storage pool disease of platelets |
| RS1849228141 | Health Risk | Pathogenic | Abnormal bleeding, Thrombocytopenia, Abnormal bleeding |
| RS397989794 | Health Risk | Pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS587777211 | Health Risk | Pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS761044764 | Health Risk | Pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |
| RS762304847 | Health Risk | Pathogenic | Platelet-type bleeding disorder 17, Platelet-type bleeding disorder 17 |