GFI1 (growth factor independent 1 transcriptional repressor)

Gene

• Entrez ID: 2672
• Gene name: Growth factor independent 1 transcriptional repressor
• Gene symbol: GFI1
• Synonyms: GFI-1, GFI1A, SCN2, ZNF163
• 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

SNPs

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

miRNA

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

Transcription factor	Regulation	Reference
ZBTB16	Unknown	19723763

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000083	Process	Regulation of transcription involved in G1/S transition of mitotic cell cycle	TAS	8441411
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	15947108, 19506020
GO:0000976	Function	Transcription regulatory region sequence-specific DNA binding	IDA	15947108
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	19506020
GO:0003700	Function	DNA-binding transcription factor activity	IBA	21873635
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:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0010956	Process	Negative regulation of calcidiol 1-monooxygenase activity	IDA	15947108
GO:0010957	Process	Negative regulation of vitamin D biosynthetic process	IC	15947108
GO:0010977	Process	Negative regulation of neuron projection development	IDA	19026687
GO:0016032	Process	Viral process	TAS	8441411
GO:0016363	Component	Nuclear matrix	IDA	12874834
GO:0016604	Component	Nuclear body	IDA	11060035
GO:0017053	Component	Transcription repressor complex	IDA	12874834, 19506020
GO:0030097	Process	Hemopoiesis	IEA
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 transcription, DNA-templated	IDA	12874834
GO:0046872	Function	Metal ion binding	IEA
GO:0051569	Process	Regulation of histone H3-K4 methylation	IEA
GO:0070105	Process	Positive regulation of interleukin-6-mediated signaling pathway	IDA	11060035
GO:0071222	Process	Cellular response to lipopolysaccharide	IEP	20547752
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536

Other IDs

• MIM: 600871
• HGNC: 4237
• e!Ensembl: 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

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Aplastic anemia	Aplastic Anemia	rs113993991, rs113993993, rs864309668, rs121908974, rs199422265, rs199422270, rs104894176, rs104894180, rs28933973, rs104894182, rs28933376, rs771552960, rs786205093, rs193302876, rs113993992, rs113993994, rs113993998, rs199422298, rs199422305, rs199422273, rs199422275, rs199422276, rs199422259, rs199422279, rs199422280, rs199422281, rs199422283, rs587780100, rs587781305, rs587781891, rs587781969, rs587782130, rs587782545, rs730881864, rs730881857, rs730881850, rs730881839, rs142301194, rs786201745, rs764884516, rs786202490, rs768378152, rs574673404, rs767215758, rs786205135, rs762664474, rs751161742, rs373730800, rs864622143, rs864622090, rs864622511, rs864622253, rs786201965, rs756363734, rs766044684, rs876659521, rs876659592, rs113993990, rs751247865, rs1057517262, rs1057516668, rs1057516611, rs1057516320, rs1057516772, rs931715719, rs767454740, rs1057519587, rs1060503483, rs1060503467, rs1064795816, rs1064793210, rs1131691842, rs772797192, rs751567476, rs780235686, rs1554562083, rs578092914, rs147035858, rs189650890, rs759232053, rs1554558613, rs1554567892, rs1554564297, rs1554558472, rs1554559083, rs1349928568, rs1178384498, rs1198614767, rs1554558449, rs1554568427, rs752858869, rs147462227, rs748513310, rs1238152597, rs760237820, rs1554562110, rs750375741, rs758708229, rs768849283, rs1563578540, rs1563526747, rs1563559078, rs772005832, rs1563539146, rs778306619, rs771475965, rs1586052851, rs1554559094, rs776571416, rs200430442, rs776299562, rs1584439050, rs1586075907, rs1586101154, rs1586059584, rs1586088924, rs1810540992, rs772411713, rs1812023981
Spinocerebellar ataxia	Ataxia, Spinocerebellar, Spinocerebellar Ataxia Type 1, Spinocerebellar Ataxia Type 2, Spinocerebellar Ataxia Type 4, Spinocerebellar Ataxia Type 5, Spinocerebellar Ataxia Type 6 (disorder), Spinocerebellar Ataxia Type 7	rs80356538, rs80356539, rs56144125, rs28937887, rs80356544, rs80356540, rs80356542, rs1941485201, rs121918306, rs151344520, rs151344519, rs151344521, rs151344523, rs151344512, rs193922926, rs104894393, rs587776685, rs121908216, rs121908215, rs121908217, rs121909326, rs121918511, rs121918512, rs121918513, rs121918514, rs121918515, rs121918516, rs121918517, rs121918518, rs1555808841, rs104894699, rs104894700, rs121912425, rs121913123, rs267606939, rs201486601, rs387906679, rs151344514, rs151344515, rs151344517, rs387907033, rs387907089, rs794726680, rs761213683, rs794726681, rs1555779353, rs151344513, rs151344518, rs151344522, rs397514535, rs397514536, rs318240735, rs386134171, rs386134158, rs386134159, rs386134160, rs386134161, rs386134162, rs386134163, rs386134164, rs386134165, rs386134166, rs386134168, rs386134170, rs386134169, rs146859515, rs373728971, rs397515475, rs397515476, rs587777052, rs121908247, rs121908200, rs398122959, rs587777127, rs587777128, rs587777235, rs587777340, rs587777341, rs587777342, rs587777344, rs587777345, rs587777346, rs587777347, rs587780326, rs587777670, rs587777671, rs606231451, rs606231452, rs540331226, rs144272231, rs690016544, rs727502823, rs372250159, rs793888526, rs876657385, rs869320748, rs876657386, rs786205229, rs876657387, rs774694340, rs786205867, rs794727411, rs797044955, rs797044872, rs797045634, rs797045240, rs765592794, rs797045900, rs748445058, rs863223919, rs765987297, rs863224882, rs753611141, rs869025292, rs869025293, rs755221106, rs869312685, rs751181600, rs886037832, rs875989881, rs372245668, rs879255601, rs876657414, rs752281590, rs879253883, rs1114167316, rs879255651, rs879255653, rs879255654, rs886039392, rs540839115, rs886039762, rs201128942, rs886041279, rs531656357, rs1057519453, rs1057519454, rs573267388, rs1057519561, rs200277996, rs1064795856, rs749320057, rs750331613, rs1131692265, rs761564262, rs1555768154, rs1210764379, rs758937084, rs1555475283, rs1555475375, rs760424025, rs1555806333, rs1554308513, rs1554274719, rs1554317158, rs201920319, rs1553724533, rs1554985851, rs768831597, rs1554986345, rs1555755878, rs1554902760, rs368143665, rs1555370787, rs1322796318, rs1553756062, rs772345347, rs149905705, rs1555475794, rs760752847, rs1555781806, rs1555738369, rs1554986337, rs1184563885, rs1553758021, rs1559718601, rs1206950481, rs1568523843, rs748984540, rs1557539450, rs1557541619, rs771145682, rs1564808324, rs1567283195, rs752352896, rs1557794465, rs547792505, rs193922929, rs1571636501, rs1571636508, rs1571939827, rs1571939905, rs1559603328, rs1562374476, rs1599651549, rs1590020571, rs1598832526, rs1575415900, rs779142717, rs781016340, rs1366090807, rs1579319300, rs1311909367, rs1589625941, rs749656742, rs1317590341, rs1599943097, rs1590955348, rs749679347, rs1590911156, rs1395191127, rs1405576707, rs541484241, rs1598820860, rs1598832568, rs1589611043, rs758809498, rs754446573	16122429
Congenital neutropenia	Congenital neutropenia, Autosomal dominant severe congenital neutropenia	rs118203968, rs118203969, rs118203970, rs118203971, rs267606834, rs28936381, rs137854447, rs137854448, rs137854450, rs28931611, rs137854451, rs200478425, rs587777730, rs606231474, rs606231475, rs606231473, rs775224457, rs769441127, rs148559256, rs797044567, rs796065343, rs797045009, rs878855315, rs1555710005, rs879253750, rs879253882, rs1555354200, rs1555354198, rs1555354750, rs890101650, rs759302795, rs57246956, rs138156467, rs1194477276, rs1570588220, rs757401069, rs745582203, rs1191239079, rs1597905369, rs1599294750, rs1594996301, rs1595004126, rs1595004676, rs756667927, rs34019455
Hemangioma	Hemangioma	rs119475040, rs121917766
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297, rs11978267, rs4132601	17330099
Lymphoblastic leukemia	Precursor Cell Lymphoblastic Leukemia Lymphoma	rs387906351, rs104894562, rs398122513, rs398122840, rs398123063, rs1057524466, rs1064796115, rs1064795660, rs1064793129, rs1064796227, rs1567887558, rs1161194345, rs1597558200, rs1406320425, rs1597566470, rs1597566699, rs1597567692, rs1597567985, rs1438890364, rs1288977950, rs1597552140, rs1597566356, rs1597566726, rs1597568117, rs2069719445, rs2069729948, rs2070018439, rs745708044, rs1169577591
Multiple sclerosis	Multiple Sclerosis	rs104895219, rs483353022, rs483353023, rs483353028, rs483353029, rs483353024, rs483353030, rs3207617, rs483353031, rs483353032, rs483353033, rs483353034, rs483353035, rs483353036, rs483353039, rs483353038, rs61731956, rs568165874, rs767480544	27386562
Myelodysplasia	Myelodysplasia	rs141601766, rs1261178797
Myelodysplastic syndrome	MYELODYSPLASTIC SYNDROME	rs193303018, rs387906631, rs1576745225, rs373145711, rs752746786, rs377023736, rs373221034, rs1576749014, rs1600586587
Neutropenia	Neutropenia, Neutropenia, Nonimmune Chronic Idiopathic, Adult, Neutropenia, Severe Congenital, Autosomal Dominant 1, Neutropenia, Severe Congenital, Autosomal Dominant 2	rs879253882	12778173, 12530980, 12778173
Periodontitis	Periodontitis	rs28937571, rs104894211, rs587777534

Unknown
Disease name	Disease term	dbSNP ID	References
Aphthous ulcer	Recurrent aphthous ulcer
Digestive system neuroendocrine neoplasm	Gastro-enteropancreatic neuroendocrine tumor		29915428
Eosinophilia	Eosinophilia
Gingivitis	Gingivitis
Lymphopenia	Lymphopenia
Monocytosis	Monocytosis
Myeloid leukemia	Acute Myeloid Leukemia, M1		17330099
Oral ulcer	Oral Ulcer
Osteopenia	Osteopenia
Pharyngitis	Pharyngitis
Pyoderma gangrenosum	Pyoderma Gangrenosum
Rhinitis	Rhinitis