GFI1B

Chr 9q34.13

growth factor independent 1B transcriptional repressor

Aliases:: ZNF163B
MANE:: ENST00000372122.4

OMIM: 604383 ↗NCBI: 8328 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GFI1B · Q5VTD9

v62025-08-01

Predicted Aligned Error matrix for GFI1B — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

63.8/ 100

Low

330 residues

Confidence breakdown

Very high(≥ 90)25%
Confident(70–90)25%
Low(50–70)5%
Very low(< 50)45%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Bleeding and platelet disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Inherited bleeding disorders
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Disease associations (Open Targets)

platelet-type bleeding disorder 17
0.72
gray platelet syndrome
0.47
hereditary disease
0.41
Thrombocytopenia
0.37
platelet storage pool deficiency
0.37
autosomal dominant macrothrombocytopenia
0.37
factor V and factor VIII, combined deficiency of, type 1
0.35
Platelet storage pool disease
0.34
Abnormal bleeding
0.33
Alzheimer disease
0.29

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Zinc finger protein Gfi-1b

Essential proto-oncogenic transcriptional regulator necessary for development and differentiation of erythroid and megakaryocytic lineages. Component of a RCOR-GFI-KDM1A-HDAC complex that suppresses, via histone deacetylase (HDAC) recruitment, a number of genes implicated in multilineage blood cell development and controls hematopoietic differentiation. Transcriptional repressor or activator depending on both promoter and cell type context; represses promoter activity of SOCS1 and SOCS3 and thus, may regulate cytokine signaling pathways. Cooperates with GATA1 to repress target gene transcription, such as the apoptosis regulator BCL2L1; GFI1B silencing in leukemic cell lines markedly increase apoptosis rate. Inhibits down-regulation of MYC and MYB as well as the cyclin-dependent kinase inhibitor CDKN1A/P21WAF1 in IL6-treated myelomonocytic cells. Represses expression of GATA3 in T-cell lymphomas and inhibits GATA1-mediated transcription; as GATA1 also mediates erythroid GFI1B transcription, both GATA1 and GFI1B participate in a feedback regulatory pathway controlling the expression of GFI1B gene in erythroid cells. Suppresses GATA1-mediated stimulation of GFI1B promoter through protein interaction. Binds to gamma-satellite DNA and to its own promoter, auto-repressing its own expression. Alters histone methylation by recruiting histone methyltransferase to target genes promoters. Plays a role in heterochromatin formation