GFI1B (growth factor independent 1B transcriptional repressor)

Gene

• Entrez ID: 8328
• Gene name: Growth factor independent 1B transcriptional repressor
• Gene symbol: GFI1B
• Synonyms (NCBI Gene): BDPLT17, ZNF163B
• Chromosome: 9
• Chromosome location: 9q34.13
• 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 transc

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs397989794	->C	Pathogenic	Frameshift variant, coding sequence variant
rs587777211	C>T	Pathogenic	Stop gained, coding sequence variant
rs775963992	T>A,C	Pathogenic	Coding sequence variant, missense variant
rs1554724691	G>A	Pathogenic	Coding sequence variant, missense variant
rs1554724694	A>T	Pathogenic	Coding sequence variant, stop gained
rs1564180346	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1016641	hsa-miR-1228	CLIP-seq
MIRT1016642	hsa-miR-124	CLIP-seq
MIRT1016643	hsa-miR-214	CLIP-seq
MIRT1016644	hsa-miR-3120-5p	CLIP-seq
MIRT1016645	hsa-miR-3125	CLIP-seq
MIRT1016646	hsa-miR-3619-5p	CLIP-seq
MIRT1016647	hsa-miR-3663-3p	CLIP-seq
MIRT1016648	hsa-miR-3665	CLIP-seq
MIRT1016649	hsa-miR-3689d	CLIP-seq
MIRT1016650	hsa-miR-3916	CLIP-seq
MIRT1016651	hsa-miR-4476	CLIP-seq
MIRT1016652	hsa-miR-4514	CLIP-seq
MIRT1016653	hsa-miR-4690-5p	CLIP-seq
MIRT1016654	hsa-miR-4692	CLIP-seq
MIRT1016655	hsa-miR-4736	CLIP-seq
MIRT1016656	hsa-miR-506	CLIP-seq
MIRT1016657	hsa-miR-619	CLIP-seq
MIRT1016658	hsa-miR-761	CLIP-seq
MIRT1016659	hsa-miR-875-3p	CLIP-seq
MIRT1016660	hsa-miR-877	CLIP-seq
MIRT1016661	hsa-miR-940	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
GATA1	Unknown	19965638;20564185
HMGB2	Activation	19965638
NFYA	Unknown	19965638
NFYB	Unknown	19965638
NFYC	Unknown	19965638
POU2F1	Unknown	19965638

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	9566867
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	NAS	15920471
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA
GO:0003677	Function	DNA binding	IEA
GO:0005515	Function	Protein binding	IPI	12874834, 16713569
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	12874834
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005667	Component	Transcription regulator complex	IDA	15920471
GO:0005886	Component	Plasma membrane	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0008270	Function	Zinc ion binding	IEA
GO:0016363	Component	Nuclear matrix	IDA	12874834
GO:0016363	Component	Nuclear matrix	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IPI	15920471
GO:1903706	Process	Regulation of hemopoiesis	IBA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000134	Process	Negative regulation of G1/S transition of mitotic cell cycle	TAS	9566867

Other IDs

• MIM: 604383
• HGNC: 4238
• e!Ensembl: ENSG00000165702

Protein

• UniProt ID: Q5VTD9
• Protein name: Zinc finger protein Gfi-1b (Growth factor independent protein 1B) (Potential regulator of CDKN1A translocated in CML)
• Protein function: 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
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00096	zf-C2H2	163 → 186	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	192 → 214	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	220 → 242	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	276 → 298	Zinc finger, C2H2 type	Domain
  PF00096	zf-C2H2	304 → 327	Zinc finger, C2H2 type	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in bone marrow and fetal liver, but also detectable in fetal spleen, fetal thymus, and testes. Detected in hematopoietic stem cells, erythroblasts, and megakaryocytes. Overexpressed in bone marrow of patients with erythroleuk
• Sequence:

  MPRSFLVKSKKAHTYHQPRVQEDEPLWPPALTPVPRDQAPSNSPVLSTLFPNQCLDWTNL
  KREPELEQDQNLARMAPAPEGPIVLSRPQDGDSPLSDSPPFYKPSFSWDTLATTYGHSYR
  QAPSTMQSAFLEHSVSLYGSPLVPSTEPALDFSLRYSPGMDAYHCVKCNKVFSTPHGLEV
  HVRRSHSGTRPFACDICGKTFGHAVSLEQHTHVHSQERSFECRMCGKAFKRSSTLSTHLL
  IHSDTRPYPCQFCGKRFHQKSDMKKHTYIHTGEKPHKCQVCGKAFSQSSNLITHSRKHTG
  FKPFSCELCTKGFQRKVDLRRHRESQHNLK

• Sequence length: 330

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Abnormal bleeding	Pathogenic	rs1849228141	RCV001270507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Platelet-type bleeding disorder 17	Pathogenic; Likely pathogenic	rs587777211, rs376762177, rs570058270, rs762304847, rs761044764, rs1554724694, rs397989794	RCV000088664 RCV002245418 RCV002245460 RCV002281012 RCV002284153 RCV000505272 RCV000088665	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Storage pool disease of platelets	Pathogenic	rs1564180346	RCV000710041	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Thrombocytopenia	Pathogenic	rs1849228141	RCV001270507	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT MACROTHROMBOCYTOPENIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLEEDING DISORDER, PLATELET-TYPE, 17	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial pancreatic carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GFI1B-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GRAY PLATELET SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYELOPROLIFERATIVE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
THROMBASTHENIA-THROMBOCYTOPENIA, HEREDITARY	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Erythroblastic Leukemia	Erythroblastic Leukemia	BEFREE	17156408, 29765516, 30988160		★☆☆☆☆ Found in Text Mining only
Acute lymphocytic leukemia	Lymphocytic Leukemia	BEFREE	17156408		★☆☆☆☆ Found in Text Mining only
Acute Megakaryocytic Leukemias	Megakaryocytic Leukemia	BEFREE	17156408		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	19360458		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708		★☆☆☆☆ Found in Text Mining only
Alpha delta granule deficiency	Storage Pool Disease Of Platelets	Orphanet			★☆☆☆☆ Found in Text Mining only
Anemia Aplastic	Aplastic anemia	Pubtator	17156408	Inhibit	★☆☆☆☆ Found in Text Mining only
Arthrogryposis, renal dysfunction, and cholestasis 1	Arthrogryposis, Renal Dysfunction, And Cholestasis	BEFREE	26971401		★☆☆☆☆ Found in Text Mining only
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	ORPHANET_DG	28439885		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Autosomal dominant macrothrombocytopenia	Macrothrombocytopenia	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Blast Phase	Blast phase chronic myelogenous leukemia	BEFREE	23788109		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	23927492, 26447191, 30655368		★☆☆☆☆ Found in Text Mining only
Blood Platelet Disorders	Platelet disorder	Pubtator	23927492, 30655368, 36700500, 36736831, 38103735	Associate	★☆☆☆☆ Found in Text Mining only
Budd-Chiari Syndrome	Budd-Chiari syndrome	BEFREE	28983615		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33472357	Associate	★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Gray Platelet Syndrome	Gray Platelet Syndrome	BEFREE	24325358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gray Platelet Syndrome	Gray Platelet Syndrome	ORPHANET_DG	24325358		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gray Platelet Syndrome	Graves ophthalmopathy	Pubtator	24325358, 28880435	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gray platelet syndrome	Gray Platelet Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hematologic Neoplasms	Hematologic neoplasm	Pubtator	33472357	Associate	★☆☆☆☆ Found in Text Mining only
Hematological Disease	Hematological Disease	BEFREE	20143233, 26447191		★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	23927492, 28880435, 30655368, 32633597, 33472357	Associate	★☆☆☆☆ Found in Text Mining only
Hepatic Vein Thrombosis	Hepatic Vein Thrombosis	BEFREE	28983615		★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune System Diseases	BEFREE	27450272		★☆☆☆☆ Found in Text Mining only
Immune thrombocytopenic purpura	Immune Thrombocytopenic Purpura	BEFREE	31207059		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	26447191, 26851695		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	35804097	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35804097	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	17156408, 19360458, 26851695, 29326122		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	BEFREE	17272506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	LHGDN	17272506		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lymphoma	Lymphoma	Pubtator	17272506	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrothrombocytopenia	Macrothrombocytopenia	BEFREE	27122003, 28880435, 31207059		★☆☆☆☆ Found in Text Mining only
Malignant Childhood Neoplasm	Malignant Neoplasm	BEFREE	25043047		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	17156408, 19360458		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	25043047, 25117708		★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	BEFREE	17156408, 26851695, 29326122		★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myelofibrosis	Myelofibrosis	BEFREE	17156408		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	BEFREE	19360458		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia, Chronic	Myeloid Leukemia	BEFREE	17156408, 23788109		★☆☆☆☆ Found in Text Mining only
Platelet alpha-Granule Deficiency	Platelet Alpha-Granule Deficiency	ORPHANET_DG	24325358		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	BEFREE	28041820		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	ORPHANET_DG	28041820		★☆☆☆☆ Found in Text Mining only
Platelet Storage Pool Deficiency	Platelet Storage Pool Deficiency	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Primary Myelofibrosis	Myelofibrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
SEBASTIAN SYNDROME	SEBASTIAN SYNDROME	BEFREE	29143464		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28667074		★☆☆☆☆ Found in Text Mining only
T-Cell Lymphoma	T-Cell Lymphoma	BEFREE	17272506		★☆☆☆☆ Found in Text Mining only
Teratoma	Teratoma	BEFREE	28943250		★☆☆☆☆ Found in Text Mining only
Thrombasthenia-Thrombocytopenia, Hereditary	Thrombasthenia	CLINGEN_DG	11825872, 23927492, 24325358, 25258084, 27122003, 28041820, 28082345, 28439885, 28550182, 28880435, 30894540, 31249973		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia-Thrombocytopenia, Hereditary	Thrombasthenia	GENOMICS_ENGLAND_DG	23927492, 28041820		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia-Thrombocytopenia, Hereditary	Thrombasthenia	BEFREE	29055225		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia-Thrombocytopenia, Hereditary	Thrombasthenia	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombasthenia-Thrombocytopenia, Hereditary	Thrombasthenia	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombocytopenia	Thrombocytopenia	Pubtator	28880435, 31207059, 32633597, 33472357, 36736831, 38103735	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Tomaculous neuropathy	Hereditary neuropathy with liability to pressure palsies	Pubtator	32633597	Associate	★☆☆☆☆ Found in Text Mining only
Von Willebrand disease platelet type	Von willebrand disorder	Pubtator	32633597	Associate	★☆☆☆☆ Found in Text Mining only