GeDiPNet: Comprehensive Gene Data - OMIM, HGNC, Ensembl, UniProt, GO, Transcription Factors & miRNA

Home
Browse
- Genes
- Diseases
- Pathways
  - Reactome
  - KEGG
Analysis
Help
Links
FAQ
Contact us

IKZF1 (IKAROS family zinc finger 1)

Gene

10320

IKAROS family zinc finger 1

IKZF1

CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1

7p12.2

This gene encodes a transcription factor that belongs to the family of zinc-finger DNA-binding proteins associated with chromatin remodeling. The expression of this protein is restricted to the fetal and adult hemo-lymphopoietic system, and it functions a

Show/Hide all(15)

SNP ID	Visualize variation	Clinical significance	Consequence
rs374333820	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs530073586	C>A,T	Pathogenic	Intron variant, stop gained, genic downstream transcript variant, coding sequence variant, synonymous variant
rs770551610	G>A,T	Pathogenic	Coding sequence variant, genic downstream transcript variant, intron variant, missense variant
rs778820674	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312883	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312884	A>G	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs869312885	G>A	Pathogenic	Coding sequence variant, intron variant, missense variant, genic downstream transcript variant
rs1131690788	A>G	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, intron variant
rs1245618829	G>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1435621658	G>A,T	Likely-pathogenic	Intron variant, genic downstream transcript variant, splice donor variant
rs1554391793	AT>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1584925614	C>T	Pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584926038	C>T	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1584926133	A>G	Likely-pathogenic	Intron variant, missense variant, coding sequence variant, genic downstream transcript variant
rs1585040113	C>G	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant

Show/Hide all(83)

miRTarBase ID	miRNA	Experiments	Reference
MIRT029793	hsa-miR-26b-5p	Microarray	19088304
MIRT170951	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT170952	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT1063095	hsa-miR-1908	CLIP-seq
MIRT1063096	hsa-miR-1972	CLIP-seq
MIRT1063097	hsa-miR-24	CLIP-seq
MIRT1063098	hsa-miR-2467-5p	CLIP-seq
MIRT1063099	hsa-miR-4529-5p	CLIP-seq
MIRT1063100	hsa-miR-4650-5p	CLIP-seq
MIRT1063101	hsa-miR-4728-3p	CLIP-seq
MIRT1063102	hsa-miR-663	CLIP-seq
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063103	hsa-miR-1285	CLIP-seq
MIRT1063104	hsa-miR-3176	CLIP-seq
MIRT1063105	hsa-miR-3187-5p	CLIP-seq
MIRT1063106	hsa-miR-320e	CLIP-seq
MIRT1063107	hsa-miR-3922-3p	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063108	hsa-miR-612	CLIP-seq
MIRT1063109	hsa-miR-661	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT1063110	hsa-miR-101	CLIP-seq
MIRT1063111	hsa-miR-103b	CLIP-seq
MIRT1063091	hsa-miR-1263	CLIP-seq
MIRT1063112	hsa-miR-1276	CLIP-seq
MIRT1063113	hsa-miR-144	CLIP-seq
MIRT1063114	hsa-miR-148a	CLIP-seq
MIRT1063115	hsa-miR-148b	CLIP-seq
MIRT1063116	hsa-miR-152	CLIP-seq
MIRT1063117	hsa-miR-197	CLIP-seq
MIRT1063118	hsa-miR-208a	CLIP-seq
MIRT1063119	hsa-miR-208b	CLIP-seq
MIRT1063120	hsa-miR-2110	CLIP-seq
MIRT1063121	hsa-miR-2355-5p	CLIP-seq
MIRT1063122	hsa-miR-3150a-5p	CLIP-seq
MIRT1063123	hsa-miR-3150b-5p	CLIP-seq
MIRT1063124	hsa-miR-3179	CLIP-seq
MIRT1063125	hsa-miR-3658	CLIP-seq
MIRT1063126	hsa-miR-3660	CLIP-seq
MIRT1063127	hsa-miR-3667-5p	CLIP-seq
MIRT1063128	hsa-miR-4261	CLIP-seq
MIRT1063129	hsa-miR-4271	CLIP-seq
MIRT1063130	hsa-miR-4276	CLIP-seq
MIRT1063092	hsa-miR-4291	CLIP-seq
MIRT1063131	hsa-miR-4311	CLIP-seq
MIRT1063132	hsa-miR-4436b-3p	CLIP-seq
MIRT1063133	hsa-miR-4476	CLIP-seq
MIRT1063134	hsa-miR-4526	CLIP-seq
MIRT1063135	hsa-miR-4667-5p	CLIP-seq
MIRT1063136	hsa-miR-4685-5p	CLIP-seq
MIRT1063137	hsa-miR-4700-5p	CLIP-seq
MIRT1063138	hsa-miR-4716-5p	CLIP-seq
MIRT1063139	hsa-miR-4725-3p	CLIP-seq
MIRT1063140	hsa-miR-494	CLIP-seq
MIRT1063141	hsa-miR-499-5p	CLIP-seq
MIRT1063142	hsa-miR-515-3p	CLIP-seq
MIRT1063143	hsa-miR-519e	CLIP-seq
MIRT1063093	hsa-miR-545	CLIP-seq
MIRT1063144	hsa-miR-582-5p	CLIP-seq
MIRT1063145	hsa-miR-583	CLIP-seq
MIRT1063146	hsa-miR-622	CLIP-seq
MIRT1063147	hsa-miR-637	CLIP-seq
MIRT1063094	hsa-miR-891b	CLIP-seq
MIRT2014903	hsa-miR-1	CLIP-seq
MIRT2014904	hsa-miR-206	CLIP-seq
MIRT2014905	hsa-miR-3915	CLIP-seq
MIRT2014906	hsa-miR-3928	CLIP-seq
MIRT2014907	hsa-miR-409-3p	CLIP-seq
MIRT2014908	hsa-miR-4303	CLIP-seq
MIRT2014909	hsa-miR-4423-5p	CLIP-seq
MIRT2014910	hsa-miR-4649-3p	CLIP-seq
MIRT2014911	hsa-miR-4762-3p	CLIP-seq
MIRT2014912	hsa-miR-613	CLIP-seq
MIRT2014913	hsa-miR-659	CLIP-seq
MIRT2014914	hsa-miR-9	CLIP-seq
MIRT2247228	hsa-miR-27a	CLIP-seq
MIRT2247229	hsa-miR-27b	CLIP-seq
MIRT2682715	hsa-miR-548c-3p	CLIP-seq

Show/Hide all(19)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
GO:0003677	Function	DNA binding	IDA	21548011, 22106042
GO:0003700	Function	DNA-binding transcription factor activity	IBA	21873635
GO:0005515	Function	Protein binding	IPI	15491138, 21516116, 25416956, 29892012, 31515488
GO:0005634	Component	Nucleus	IDA	21548011, 22106042
GO:0005654	Component	Nucleoplasm	IDA
GO:0005721	Component	Pericentric heterochromatin	IDA	21548011
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007049	Process	Cell cycle	IEA
GO:0007498	Process	Mesoderm development	TAS	8543809
GO:0019904	Function	Protein domain specific binding	IPI	15491138
GO:0030098	Process	Lymphocyte differentiation	IMP	17934067
GO:0030218	Process	Erythrocyte differentiation	IMP	17934067
GO:0032991	Component	Protein-containing complex	IDA	23071339
GO:0032991	Component	Protein-containing complex	IMP	15491138
GO:0045892	Process	Negative regulation of transcription, DNA-templated	ISS
GO:0046872	Function	Metal ion binding	IEA

MIM	HGNC	e!Ensembl
603023	13176	ENSG00000185811

Protein

UniProt ID

Q13422

Protein name

DNA-binding protein Ikaros (Ikaros family zinc finger protein 1) (Lymphoid transcription factor LyF-1)

Protein function

Transcription regulator of hematopoietic cell differentiation (PubMed:17934067). Binds gamma-satellite DNA (PubMed:17135265, PubMed:19141594). Plays a role in the development of lymphocytes, B- and T-cells. Binds and activates the enhancer (delt

PDB

6H0F , 8D7Z , 8D80 , 8RQC , 8TNP , 8TNQ , 8TNR

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00096	zf-C2H2	145 → 167	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	173 → 195	Zinc finger, C2H2 type	Domain
PF00096	zf-C2H2	201 → 224	Zinc finger, C2H2 type	Domain

Sequence

MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVE
TQSDEENGRACEMNGEECAEDLRMLDASGEKMNGSHRDQGSSALSGVGGIRLPNGKLKCD
ICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY
ACRRRDALTGHLRTHSVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVI
KEETNHSEMAEDLCKIGSERSLVLDRLASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYE
KENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPR
SNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAP
HARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIH
MGCHGFRDPFECNMCGYHSQDRYEFSSHITRGEHRFHMS

Sequence length

519

Interactions

View interactions

Associated diseases

Show/Hide Causal Diseases (13)

Causal
Disease name	Disease term	dbSNP ID	References
Anemia	Anemia	rs118204044, rs118204045, rs118204046, rs121918330, rs869320719, rs869312029, rs121918332, rs869320724, rs767094129, rs786205058, rs786205059, rs137853119, rs137853120, rs137853121, rs1384933966, rs137853122, rs137853123, rs786205060, rs267607121, rs121908584, rs80338697, rs80338699, rs120074166, rs120074167, rs1050828, rs74575103, rs137852314, rs5030868, rs137852316, rs137852317, rs137852318, rs137852319, rs137852320, rs137852321, rs137852322, rs137852323, rs137852324, rs72554665, rs387906468, rs5030872, rs137852326, rs137852333, rs137852327, rs137852328, rs137852329, rs137852330, rs137852331, rs137852332, rs137852334, rs137852335, rs137852336, rs137852339, rs76645461, rs137852340, rs137852341, rs78478128, rs137852343, rs137852344, rs137852345, rs587776730, rs137852346, rs137852347, rs137852349, rs2070404412, rs2070350038, rs2070350009, rs137852303, rs137852304, rs33946267, rs34378160, rs33933298, rs11549407, rs35724775, rs34598529, rs41469945, rs267607201, rs80338694, rs80338696, rs387907018, rs398123546, rs78365220, rs587777100, rs587777101, rs483352840, rs869312752, rs765487627, rs1557229599, rs1557230040, rs1555524842, rs782090947, rs1358275550, rs1557229736, rs1557230573, rs1556323334, rs1233124208, rs1293528130, rs146864395, rs1595503440, rs1603411214, rs137852325, rs1575247302, rs1603411177, rs1336651679, rs782322505
Burkitt`s lymphoma	Burkitt Lymphoma	rs28933407, rs121918683, rs121918684	19129520, 18408710, 23751147, 19770381
Common variable immunodeficiency	Common Variable Immunodeficiency, Acquired Hypogammaglobulinemia, IMMUNODEFICIENCY, COMMON VARIABLE, 13	rs72553883, rs121908379, rs104894650, rs587776775, rs398122863, rs398122864, rs397514332, rs397514331, rs727502786, rs727502787, rs72553882, rs869320688, rs869320689, rs869320754, rs773694113, rs1553319504, rs201017642, rs1555550717, rs1558192723, rs1030733127, rs749636258, rs185689791, rs1559035937, rs1565214594, rs1560679469, rs1560711146, rs1569376229, rs1578790573, rs939459600, rs1572952530, rs1572950925, rs772481080, rs369363360, rs72553885, rs72553879, rs1265262160, rs1303637368, rs757598952, rs1016142312, rs1578771120, rs1578771197, rs1578793298, rs1578793312, rs1578809101, rs1578811073, rs1590715754, rs144718007, rs759649059, rs1723945421, rs2061279365	26981933, 21548011
Diabetes mellitus	Diabetes Mellitus, Insulin-Dependent	rs587776515, rs61730328, rs606231121, rs606231122, rs79020217, rs77625743, rs78378398, rs606231123, rs4402960, rs1362648752, rs3745368, rs3792267, rs3842570, rs5030952, rs2975760, rs119489103, rs7903146, rs12255372, rs11196205, rs104893649, rs80356624, rs80356616, rs80356625, rs80356611, rs104894237, rs80356613, rs137852740, rs137852786, rs387906407, rs151344623, rs28938469, rs28936371, rs137852672, rs80356637, rs80356642, rs80356653, rs137852673, rs137852674, rs80356634, rs80356651, rs193929360, rs137853334, rs137853335, rs137853336, rs1600731198, rs137853338, rs121964882, rs121964883, rs387906511, rs121964884, rs121964885, rs2147483647, rs387906512, rs121964887, rs121964888, rs121964889, rs121964890, rs121964891, rs28934878, rs74315383, rs121964893, rs886037620, rs886037621, rs80356663, rs121434593, rs121913150, rs587776825, rs137853236, rs2135842335, rs137853237, rs137853238, rs2135818776, rs1566092470, rs1463923467, rs137853243, rs137853244, rs2135839114, rs137853245, rs2135847417, rs121918407, rs104894005, rs104894006, rs80356655, rs104894008, rs104894009, rs104894010, rs104894011, rs80356654, rs104894016, rs193929376, rs193929374, rs193929375, rs193929373, rs80356666, rs80356669, rs80356664, rs193929366, rs1048095, rs193929355, rs193929356, rs1259467443, rs104893642, rs387906777, rs387906779, rs141804752, rs182349376, rs184917682, rs193922396, rs193922400, rs193922401, rs137852676, rs193922407, rs193922638, rs193922257, rs193922258, rs193922259, rs193922260, rs193922261, rs193922262, rs193922263, rs193922264, rs193922265, rs193922268, rs193921338, rs193922269, rs193922272, rs193922273, rs193922275, rs193922278, rs193922279, rs193922280, rs193922281, rs193922282, rs193922283, rs193922284, rs193922286, rs193922287, rs193922289, rs193922291, rs193922295, rs193922297, rs193922300, rs193922302, rs193922303, rs193922308, rs193922313, rs193922314, rs144723656, rs193922315, rs193922316, rs193922317, rs148311934, rs193922319, rs193922320, rs193922326, rs193922329, rs193922330, rs193922331, rs193922335, rs193922336, rs193922338, rs193922340, rs193922341, rs193922471, rs193922475, rs193922476, rs193922479, rs193922355, rs193922356, rs193922576, rs193922578, rs193922582, rs193922588, rs193922592, rs193922594, rs193922596, rs386134267, rs193922598, rs193922599, rs193922600, rs193922604, rs193922605, rs397514580, rs397515519, rs267601516, rs587780343, rs587780345, rs587780346, rs587780347, rs587780357, rs148954387, rs61736969, rs587783673, rs587783672, rs587783669, rs786204676, rs794727236, rs151344624, rs794727775, rs794727839, rs199946797, rs869320673, rs796065047, rs759072800, rs797045595, rs797045209, rs797045207, rs797045213, rs797045623, rs863225280, rs149703259, rs864321656, rs139964066, rs777870079, rs878853246, rs769268803, rs886039380, rs886041392, rs886041391, rs886042610, rs143064649, rs1057516192, rs746480424, rs1057516281, rs576684889, rs754728827, rs1057520291, rs1057520779, rs893256143, rs1057520504, rs1057524790, rs1057524902, rs1057524904, rs1057524905, rs764232985, rs1064793998, rs1064794268, rs769086289, rs369429452, rs1085307913, rs1131691416, rs765432081, rs1131692182, rs748749585, rs1554335441, rs762263694, rs1312678560, rs767565869, rs1375656631, rs1554335391, rs1360415315, rs1554335616, rs1554335752, rs1554909277, rs769518471, rs757171524, rs768951263, rs762703502, rs1555212248, rs1555212359, rs1555813319, rs1555816654, rs1553638903, rs1553638909, rs948820149, rs371977235, rs1553784995, rs76474829, rs200998587, rs1415041911, rs1554334894, rs1260178539, rs1554335421, rs1555211904, rs779184183, rs1554335564, rs200670692, rs1400535021, rs1554334872, rs1555212749, rs1553876668, rs1553878211, rs954727530, rs1554924035, rs372307320, rs925231098, rs1554913069, rs1554933565, rs766431403, rs746714109, rs751279984, rs770664202, rs1008906426, rs758844607, rs1554924540, rs1566092307, rs753998395, rs1565885935, rs1167124132, rs1376796469, rs556436603, rs1562715657, rs1486280029, rs1564869850, rs755259997, rs769569410, rs1172328722, rs1286294151, rs1375557127, rs1568731279, rs1562715426, rs556581174, rs1564865302, rs1565886545, rs776793516, rs1568724014, rs1392795567, rs781260712, rs1562719705, rs1382448285, rs1564977373, rs750586210, rs1598842892, rs1583592247, rs780612692, rs1593060859, rs1476637197, rs751279776, rs1593060890, rs1191912908, rs1167675604, rs1583601110, rs1593058932, rs778611627, rs753296261	25751624
Diffuse lymphoma	Diffuse Large B-Cell Lymphoma	rs121912651, rs121913289, rs121913293, rs878854402, rs869025340, rs1349928568, rs1569115687, rs121913291
Lymphoblastic leukemia	Childhood Acute Lymphoblastic Leukemia, L2 Acute Lymphoblastic Leukemia, Precursor B-Cell Lymphoblastic Leukemia-Lymphoma, Precursor B-cell lymphoblastic leukemia, LEUKEMIA, ACUTE LYMPHOBLASTIC, SUSCEPTIBILITY TO, 2, Precursor B-cell acute 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	19684604, 29632299, 24141364, 29296818, 23996088, 23751147, 19129520, 18408710, 19770381, 19684604, 29348612, 19684603, 22076464, 23512250
Liver failure	Liver Failure, Acute	rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
Lymphoma	Lymphoma	rs11540652, rs1592119138, rs1592123162, rs1599367044	11980663
Multiple myeloma	Multiple Myeloma	rs11540652, rs78311289, rs121913482, rs397507340, rs121913343, rs121913240, rs121913529, rs730882018, rs1057517992, rs121913527, rs756183569, rs746646631, rs1574706907, rs372078034, rs745380962, rs751524927, rs1575079076, rs1575446356, rs1478603808, rs1578264146, rs1578673280, rs1579484570, rs1579491104, rs1171390403, rs1582867955, rs764264135, rs951047896, rs890521687, rs1581495906, rs1587941402, rs1003155450, rs1588299621, rs1591100766, rs1591693095, rs1029296641, rs1593107841, rs1208575764, rs1593835248, rs1594406727, rs1594966387, rs1595889508, rs1159294530, rs1597073318, rs1135402871, rs1599413207, rs1418268495, rs1212577459, rs1600394490, rs1455074519, rs1603113792, rs1603415028, rs1602247047, rs1603452612	29594489
Myocardial infarction	Myocardial Infarction	rs12316150, rs41303970, rs909253, rs7291467, rs2234693
Nasopharyngeal carcinoma	Nasopharyngeal carcinoma	rs200046052	20512145
Pancytopenia	Pancytopenia due to IKZF1 mutations	rs869312883, rs770551610, rs1131690788, rs530073586, rs374333820
Renal insufficiency	Renal Insufficiency	rs1596536873

Show/Hide Unknown Diseases (16)

Unknown
Disease name	Disease term	dbSNP ID	References
Conjunctivitis	Conjunctivitis
Corneal erosion	Corneal erosion
Digestive system neuroendocrine neoplasm	Gastro-enteropancreatic neuroendocrine tumor		29915428
Dysphagia	Deglutition Disorders
Entropion	Entropion
Esophageal stricture	Esophageal Stricture
Hypokalemia	Hypokalemic metabolic alkalosis
Immunoglobulin deficiency	Immunoglobulin Deficiency, Late-Onset
Immunologic deficiency syndromes	Immunologic Deficiency Syndromes
Lupus erythematosus	Lupus Erythematosus, Systemic		19838193
Lymphocytic leukemia	Acute lymphocytic leukemia, Adult Acute Lymphocytic Leukemia
Nonbacterial verrucal endocardiosis	Libman-Sacks Disease		19838193
Oral ulcer	Oral Ulcer		30837455
Pancreatitis	Pancreatitis	rs61734659
Stevens-johnson syndrome	Stevens-Johnson Syndrome		25672763
Ulcerative colitis	Ulcerative Colitis		20228799

| © 2021, Biomedical Informatics Centre, NIRRH |
ICMR-National Institute for Research in Reproductive Health, Jehangir Merwanji Street, Parel, Mumbai-400012
Tel: +91-22-24192104, Fax No: +91-22-24139412