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	2672
Gene name	Growth factor independent 1 transcriptional repressor
Gene symbol	GFI1
Synonyms (NCBI Gene)	GFI-1GFI1ASCN2ZNF163
Chromosome	1
Chromosome location	1p22.1
Summary	This gene encodes a nuclear zinc finger protein that functions as a transcriptional repressor. This protein plays a role in diverse developmental contexts, including hematopoiesis and oncogenesis. It functions as part of a complex along with other cofacto

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SNP ID	Visualize variation	Clinical significance	Consequence
rs28936381	T>C,G	Pathogenic	Coding sequence variant, missense variant
rs28936382	T>C	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs35896485	GAGAGAGAGAGAGAGAGAGAGA>-,GA,GAGAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA,GAGAGAGAGAGAGA,GAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAGAGAGAGAGAGAGAGAGAGAGAGAGAGA,GAG	Benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs184691209	C>T	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT438210	hsa-miR-196b-5p	ChIP-seq	24334453
MIRT437963	hsa-miR-7-5p	qRT-PCR	24707474
MIRT438210	hsa-miR-196b-5p	ChIP-seq	24334453
MIRT437963	hsa-miR-7-5p	qRT-PCR	24707474
MIRT440577	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT440577	hsa-miR-142-3p	HITS-CLIP	22473208
MIRT1016618	hsa-miR-1257	CLIP-seq
MIRT1016619	hsa-miR-3655	CLIP-seq
MIRT1016620	hsa-miR-3913-3p	CLIP-seq
MIRT1016621	hsa-miR-4765	CLIP-seq
MIRT1016622	hsa-miR-489	CLIP-seq
MIRT1016623	hsa-miR-1179	CLIP-seq
MIRT1016624	hsa-miR-2355-3p	CLIP-seq
MIRT1016625	hsa-miR-3151	CLIP-seq
MIRT1016626	hsa-miR-3169	CLIP-seq
MIRT1016627	hsa-miR-3609	CLIP-seq
MIRT1016628	hsa-miR-3973	CLIP-seq
MIRT1016629	hsa-miR-4318	CLIP-seq
MIRT1016630	hsa-miR-4447	CLIP-seq
MIRT1016631	hsa-miR-4472	CLIP-seq
MIRT1016632	hsa-miR-4639-3p	CLIP-seq
MIRT1016633	hsa-miR-4646-3p	CLIP-seq
MIRT1016634	hsa-miR-491-5p	CLIP-seq
MIRT1016635	hsa-miR-499-3p	CLIP-seq
MIRT1016636	hsa-miR-499a-3p	CLIP-seq
MIRT1016637	hsa-miR-520g	CLIP-seq
MIRT1016638	hsa-miR-520h	CLIP-seq
MIRT1016639	hsa-miR-548ah	CLIP-seq
MIRT1016640	hsa-miR-615-5p	CLIP-seq
MIRT2000936	hsa-miR-3182	CLIP-seq
MIRT2000937	hsa-miR-4659a-3p	CLIP-seq
MIRT2000938	hsa-miR-4659b-3p	CLIP-seq
MIRT2234351	hsa-miR-1296	CLIP-seq
MIRT2234352	hsa-miR-223	CLIP-seq
MIRT2234353	hsa-miR-2909	CLIP-seq
MIRT2234354	hsa-miR-3158-3p	CLIP-seq
MIRT1016626	hsa-miR-3169	CLIP-seq
MIRT2234355	hsa-miR-3652	CLIP-seq
MIRT2234356	hsa-miR-3691-3p	CLIP-seq
MIRT2234357	hsa-miR-4328	CLIP-seq
MIRT2234358	hsa-miR-4430	CLIP-seq
MIRT2234359	hsa-miR-4446-3p	CLIP-seq
MIRT2234360	hsa-miR-4492	CLIP-seq
MIRT2234361	hsa-miR-4498	CLIP-seq
MIRT2234362	hsa-miR-4533	CLIP-seq
MIRT2234363	hsa-miR-4747-5p	CLIP-seq
MIRT2234364	hsa-miR-4762-3p	CLIP-seq
MIRT2234365	hsa-miR-762	CLIP-seq
MIRT2234366	hsa-miR-875-3p	CLIP-seq
MIRT2450214	hsa-miR-1236	CLIP-seq
MIRT2450215	hsa-miR-2355-5p	CLIP-seq
MIRT2450216	hsa-miR-3164	CLIP-seq
MIRT2450217	hsa-miR-323b-3p	CLIP-seq
MIRT1016627	hsa-miR-3609	CLIP-seq
MIRT2450218	hsa-miR-3647-3p	CLIP-seq
MIRT1016619	hsa-miR-3655	CLIP-seq
MIRT1016620	hsa-miR-3913-3p	CLIP-seq
MIRT1016628	hsa-miR-3973	CLIP-seq
MIRT1016622	hsa-miR-489	CLIP-seq
MIRT1016637	hsa-miR-520g	CLIP-seq
MIRT1016638	hsa-miR-520h	CLIP-seq
MIRT1016639	hsa-miR-548ah	CLIP-seq
MIRT2450219	hsa-miR-617	CLIP-seq
MIRT2450220	hsa-miR-622	CLIP-seq

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Transcription factor	Regulation	Reference
ZBTB16	Unknown	19723763

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15947108, 19506020
GO:0000724	Process	Double-strand break repair via homologous recombination	IDA	29670289, 30612738
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	15947108
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	15947108, 19506020
GO:0003677	Function	DNA binding	IEA
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	11060035, 12874834, 16287849, 17197705, 17636019, 17909014, 18805794, 19506020, 20190815, 20547752, 21570500
GO:0005634	Component	Nucleus	IDA	12874834, 20547752
GO:0005634	Component	Nucleus	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006974	Process	DNA damage response	IDA	15741314, 16294045
GO:0006974	Process	DNA damage response	IDA	29651020
GO:0008270	Function	Zinc ion binding	IEA
GO:0010957	Process	Negative regulation of vitamin D biosynthetic process	IDA	15947108
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19026687
GO:0016363	Component	Nuclear matrix	IDA	12874834
GO:0016363	Component	Nuclear matrix	IEA
GO:0016604	Component	Nuclear body	IDA	11060035
GO:0017053	Component	Transcription repressor complex	IDA	12874834, 19506020
GO:0032088	Process	Negative regulation of NF-kappaB transcription factor activity	ISS
GO:0034121	Process	Regulation of toll-like receptor signaling pathway	IDA	20547752
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12874834
GO:0046872	Function	Metal ion binding	IEA
GO:0070105	Process	Positive regulation of interleukin-6-mediated signaling pathway	IDA	11060035
GO:0071222	Process	Cellular response to lipopolysaccharide	IEP	20547752
GO:0140767	Function	Enzyme-substrate adaptor activity	IDA	29651020
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000042	Process	Negative regulation of double-strand break repair via homologous recombination	IDA	23333306, 23345425

MIM	HGNC	e!Ensembl
600871	4237	ENSG00000162676

Q99684

Protein name

Zinc finger protein Gfi-1 (Growth factor independent protein 1) (Zinc finger protein 163)

Protein function

Transcription repressor essential for hematopoiesis (PubMed:11060035, PubMed:17197705, PubMed:17646546, PubMed:18805794, PubMed:19164764, PubMed:20190815, PubMed:8754800). Functions in a cell-context and development-specific manner (PubMed:11060

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	255 → 278	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	284 → 306	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	312 → 334	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	340 → 362	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	368 → 390	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	396 → 419	Zinc finger, C2H2 type	Domain

Sequence

MPRSFLVKSKKAHSYHQPRSPGPDYSLRLENVPAPSRADSTSNAGGAKAEPRDRLSPESQ
LTEAPDRASASPDSCEGSVCERSSEFEDFWRPPSPSASPASEKSMCPSLDEAQPFPLPFK
PYSWSGLAGSDLRHLVQSYRPCGALERGAGLGLFCEPAPEPGHPAALYGPKRAAGGAGAG
APGSCSAGAGATAGPGLGLYGDFGSAAAGLYERPTAAAGLLYPERGHGLHADKGAGVKVE
SELLCTRLLLGGGSYKCIKCSKVFSTPHGLEVHVRRSHSGTRPFACEMCGKTFGHAVSLE
QHKAVHSQERSFDCKICGKSFKRSSTLSTHLLIHSDTRPYPCQYCGKRFHQKSDMKKHTF
IHTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCGKGFQRKVDLRRHRETQHG
LK

Sequence length

422

Interactions

View interactions

357

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Neutropenia, severe congenital, 2, autosomal dominant	Pathogenic	rs28936381	RCV000009278

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	-	rs12075243	RCV006201580
Cholangiocarcinoma	-	rs12075243	RCV006201584
Clear cell carcinoma of kidney	Likely benign	rs149914857	RCV005892815
GFI1-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	rs750251158, rs372553729, rs140302204, rs35896485, rs80337126, rs6666973, rs1188316818, rs374783582, rs370716261, rs1169382508, rs756576357, rs376949976, rs200972824, rs769776057	RCV004754735 RCV003908731 RCV003930973 RCV003983959 RCV003891930 RCV003891931 RCV003406236 RCV003920214 RCV003982999 RCV003940126 RCV003920215 RCV003894028 RCV003969530 RCV003972708 RCV003918050 RCV003905751 RCV003918051 RCV004754640 RCV003933281
Lung cancer	Likely benign	rs149914857	RCV005892816
Malignant tumor of esophagus	-	rs12075243	RCV006201579
Melanoma	Likely benign	rs766935424	RCV005912727
Nonimmune chronic idiopathic neutropenia of adults	Uncertain significance; Benign; Conflicting classifications of pathogenicity; Likely benign	rs765205557, rs1345753394, rs35896485, rs770306507, rs540625712, rs28936382, rs114487177, rs775151292, rs750742235	RCV001332588 RCV002071878 RCV002495837 RCV002486741 RCV005400539 RCV000009279 RCV003227739 RCV002502183 RCV002502182 RCV002502596 RCV002487625 RCV003224530
Ovarian serous cystadenocarcinoma	-	rs12075243	RCV006201582
Sarcoma	-	rs12075243	RCV006201581
Severe congenital neutropenia	Benign; Likely benign; Conflicting classifications of pathogenicity	rs35896485, rs766365921	RCV000265695 RCV000312379 RCV000354552 RCV000261620 RCV000323002 RCV000277315 RCV000380005 RCV000376604 RCV000369518
Thymoma	-	rs12075243	RCV006201583

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abscess	Associate	37993852
Atherosclerosis	Associate	35039093
Attention Deficit Disorder with Hyperactivity	Associate	37857414
Breast Neoplasms	Associate	36936167
Colorectal Neoplasms	Associate	30016783
Cyclic neutropenia	Associate	37993852
Enterocolitis Neutropenic	Associate	12778173
Esophageal Squamous Cell Carcinoma	Stimulate	34368875
Genetic Diseases Inborn	Associate	32066420
Glaucoma	Associate	33092545
Holoprosencephaly recurrent infections and monocytosis	Associate	32066420
Hyperoxia	Associate	34868007
Hypoxia	Associate	34868007
Immunologic Deficiency Syndromes	Associate	12778173
Inflammation	Associate	34868007
Laryngeal Neoplasms	Associate	25719218
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	20924107
Leukemia Myeloid Acute	Associate	27080012, 32362605, 34016956, 36976323
Leukemia Promyelocytic Acute	Stimulate	32362605
Medulloblastoma	Associate	26160036
Multiple Sclerosis	Associate	20087403
Myelodysplastic Syndromes	Associate	27080012
Myelodysplastic Syndromes	Inhibit	28894287
Neoplasms	Associate	17636019, 28894287, 33555624
Neutropenia	Associate	12778173, 17636019, 23454784, 37993852
Neutropenia severe chronic	Associate	37993852
Neutropenia Severe Congenital Autosomal Recessive 3	Associate	12778173, 19775295, 20803142, 21891829, 23454784, 32066420, 37993852
Oculodental syndrome Rutherfurd syndrome	Associate	37993852
Otitis Media	Associate	37993852
Pneumonia	Associate	37993852
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	28894287, 34980595
Sepsis	Associate	37993852
Specific Granule Deficiency	Associate	17244686

GFI1 (growth factor independent 1 transcriptional repressor)