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

Gene Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2672
Gene name Gene Name - the full gene name approved by the HGNC.	Growth factor independent 1 transcriptional repressor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	GFI1
Synonyms (NCBI Gene) Gene synonyms aliases	GFI-1, GFI1A, SCN2, ZNF163
Chromosome Chromosome number	1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	1p22.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

Transcription factors

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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

Protein

UniProt ID

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

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Congenital Neutropenia	Neutropenia, severe congenital, 2, autosomal dominant	rs28936381	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Multiple sclerosis and type 2 diabetes (pleiotropy)	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	N/A	N/A	GWAS
Prostate cancer	Prostate cancer	N/A	N/A	GWAS
Rheumatoid arthritis	Rheumatoid arthritis	N/A	N/A	GWAS
Systemic lupus erythematosus	Systemic lupus erythematosus	N/A	N/A	GWAS

Show/Hide Text Mining Associations (33)

Disease Name	Relationship Type	References
Associations from Text Mining Disease 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)