Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID	8328
Gene name	Growth factor independent 1B transcriptional repressor
Gene symbol	GFI1B
Synonyms (NCBI Gene)	BDPLT17ZNF163B
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

Show/Hide all (6)

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

Show/Hide all (21)

miRTarBase ID	miRNA	Experiments
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

Show/Hide all (6)

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

Show/Hide all (23)

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

MIM	HGNC	e!Ensembl
604383	4238	ENSG00000165702

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

Interactions

View interactions

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Pathogenic	rs1849228141	RCV001270507
Platelet-type bleeding disorder 17	Pathogenic; Likely pathogenic	rs587777211, rs376762177, rs570058270, rs762304847, rs761044764, rs1554724694, rs397989794	RCV000088664 RCV002245418 RCV002245460 RCV002281012 RCV002284153 RCV000505272 RCV000088665
Storage pool disease of platelets	Pathogenic	rs1564180346	RCV000710041
Thrombocytopenia	Pathogenic	rs1849228141	RCV001270507

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs60757417	RCV005917401
Familial pancreatic carcinoma	Benign	rs60757417	RCV005917403
Gastric cancer	Benign	rs114955344	RCV005908378
GFI1B-related disorder	Benign; Uncertain significance; Likely benign	rs139685732, rs570058270, rs745314098, rs533662277, rs371084332, rs368151614, rs145562579, rs139313847, rs568826386, rs144046935, rs150813342, rs544599977	RCV003923322 RCV003418417 RCV004750850 RCV003412095 RCV003894097 RCV003903944 RCV003916812 RCV003959400 RCV003959471 RCV004751553 RCV003906007 RCV003913163
Lymphoma	Benign	rs60757417	RCV005917404
Nonpapillary renal cell carcinoma	Benign	rs60757417	RCV005917402
Uterine carcinosarcoma	Benign	rs60757417	RCV005917405

Show/Hide Text Mining Associations (24)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anemia Aplastic	Inhibit	17156408
Angiofibroma	Associate	37680034
Blood Platelet Disorders	Associate	23927492, 30655368, 36700500, 36736831, 38103735
Budd Chiari Syndrome	Associate	28983615
Carcinogenesis	Associate	33472357
Chromosome Aberrations	Associate	24325358
Gray Platelet Syndrome	Associate	24325358, 28880435
Hematologic Neoplasms	Associate	33472357
Hemorrhage	Associate	23927492, 28880435, 30655368, 32633597, 33472357
Idiopathic Interstitial Pneumonias	Associate	28821283
Lesch Nyhan Syndrome	Stimulate	28056107
Leukemia	Associate	35804097
Leukemia Erythroblastic Acute	Associate	17156408
Leukemia Megakaryoblastic Acute	Stimulate	17156408
Leukemia Myeloid Acute	Associate	35804097
Lymphoma	Associate	17272506
Lymphoma T Cell	Associate	17272506
Neoplasms	Associate	33472357, 34450246
Platelet Alpha Delta Storage Pool Deficiency	Associate	28041820
Purpura Thrombocytopenic Idiopathic	Associate	31207059
Thrombasthenia Thrombocytopenia Hereditary	Associate	29055225, 32633597
Thrombocytopenia	Associate	28880435, 31207059, 32633597, 33472357, 36736831, 38103735
Tomaculous neuropathy	Associate	32633597
Von Willebrand disease platelet type	Associate	32633597

GFI1B (growth factor independent 1B transcriptional repressor)