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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	10320
Gene name Gene Name - the full gene name approved by the HGNC.	IKAROS family zinc finger 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	IKZF1
Synonyms (NCBI Gene) Gene synonyms aliases	CVID13, Hs.54452, IK1, IKAROS, LYF1, LyF-1, PPP1R92, PRO0758, ZNFN1A1
Chromosome Chromosome number	7
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	7p12.2
Summary Summary of gene provided in NCBI Entrez Gene.	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(26)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	21548011, 22106042
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8543809
GO:0003700	Function	DNA-binding transcription factor activity	IBA
GO:0005515	Function	Protein binding	IPI	15491138, 21516116, 24292623, 24722188, 25416956, 25910212, 26871637, 27107012, 28514442, 29892012, 31515488, 32296183, 33961781, 39251607
GO:0005634	Component	Nucleus	IDA	21548011, 22106042
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005721	Component	Pericentric heterochromatin	IDA	21548011
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IDA
GO:0006325	Process	Chromatin organization	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007498	Process	Mesoderm development	IEA
GO:0007498	Process	Mesoderm development	TAS	8543809
GO:0008270	Function	Zinc ion binding	IEA
GO:0019904	Function	Protein domain specific binding	IPI	15491138
GO:0030098	Process	Lymphocyte differentiation	IEA
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:0042802	Function	Identical protein binding	IPI	32296183
GO:0045892	Process	Negative regulation of DNA-templated transcription	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

Tissue specificity

TISSUE SPECIFICITY: Abundantly expressed in thymus, spleen and peripheral blood Leukocytes and lymph nodes. Lower expression in bone marrow and small intestine. {ECO:0000269|PubMed:8543809, ECO:0000269|PubMed:8964602}.

Sequence

MDADEGQDMSQVSGKESPPVSDTPDEGDEPMPIPEDLSTTSGGQQSSKSDRVVASNVKVE
TQSDEENGRACEMNGEECAEDLRMLDASGEKMNGSHRDQGSSALSGVGGIRLPNGKLKCD
ICGIICIGPNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHSGEKPFKCHLCNY
ACRRRDALTGHLRTHSVGKPHKCGYCGRSYKQRSSLEEHKERCHNYLESMGLPGTLYPVI
KEETNHSEMAEDLCKIGSERSLVLDRLASNVAKRKSSMPQKFLGDKGLSDTPYDSSASYE
KENEMMKSHVMDQAINNAINYLGAESLRPLVQTPPGGSEVVPVISPMYQLHKPLAEGTPR
SNHSAQDSAVENLLLLSKAKLVPSEREASPSNSCQDSTDTESNNEEQRSGLIYLTNHIAP
HARNGLSLKEEHRAYDLLRAASENSQDALRVVSTSGEQMKVYKCEHCRVLFLDHVMYTIH
MGCHGFRDPFECNMCGYHSQDRYEFSSHITRGEHRFHMS

Sequence length

519

Interactions

View interactions

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Immunodeficiency	Inherited Immunodeficiency Diseases	rs374333820, rs1584926133, rs1585040113	N/A
Pancytopenia	pancytopenia due to ikzf1 mutations	rs374333820, rs869312883, rs770551610, rs1131690788, rs530073586	N/A
immunodeficiency	Immunodeficiency	rs374333820	N/A

Show/Hide Unknown Diseases (11)

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.
Asthma	Asthma, Age of onset of childhood onset asthma	N/A	N/A	GWAS
Crohn Disease	Crohn's disease	N/A	N/A	GWAS
Diabetes	Type 1 diabetes	N/A	N/A	GWAS
Eczema	Eczema	N/A	N/A	GWAS
Inflammatory Bowel Disease	Inflammatory bowel disease	N/A	N/A	GWAS
Leukemia	Leukemia, acute lymphocytic, susceptibility to, 2	N/A	N/A	ClinVar
Metabolic Syndrome	Bitter taste perception (phenylthiocarbamide) in obesity with metabolic syndrome	N/A	N/A	GWAS
Multiple Sclerosis	Multiple sclerosis	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
Ulcerative colitis	Ulcerative colitis	N/A	N/A	GWAS

Show/Hide Text Mining Associations (107)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
22q11 Deletion Syndrome	Associate	34410295
Adenocarcinoma	Associate	38644767
Adenocarcinoma of Lung	Associate	32787735
Anemia	Associate	17934067, 32845957, 37833543
Anemia Diamond Blackfan	Associate	34162668
Arthritis Psoriatic	Inhibit	33568645
Arthritis Rheumatoid	Inhibit	33568645, 35883614
Arthritis Rheumatoid	Associate	40048636
Ataxia Telangiectasia	Associate	34980595
Autoimmune Diseases	Associate	28552951, 33031316
Autoimmune Lymphoproliferative Syndrome	Associate	35058929
Blast Crisis	Associate	24673583, 35815090
Blast Injuries	Associate	34505882
Bone Marrow Diseases	Associate	33369444
Brain Neoplasms	Associate	31320627
Breast Neoplasms	Associate	24098497, 35253733
Bronchiolitis Obliterans Syndrome	Stimulate	37231055
Burkitt Lymphoma	Associate	24522918
Carcinogenesis	Associate	33977077, 35525905
Carcinoma Renal Cell	Associate	27173324
Chromosome 7 monosomy	Associate	25331116, 26069293
Chromosome 7 trisomy 7p	Associate	23065506
Colitis Ulcerative	Associate	32908909
Colonic Neoplasms	Associate	21737484, 38644767
Colorectal Neoplasms	Associate	21737484, 24485021, 25928810, 26445409, 27726312, 29796114, 32958500, 33478584, 33723131, 35000264, 35253733, 35290664, 37438612, 37755164, 37901447, 38644767 View all (1 more)
Common Variable Immunodeficiency	Associate	26981933, 35479066
Crohn Disease	Associate	21383526
Death	Associate	26018335, 26131904, 27067989, 34410295
Diabetes Mellitus Type 1	Associate	21270240
Down Syndrome	Associate	34560013
Drug Related Side Effects and Adverse Reactions	Associate	19138562, 30228232
Evans Syndrome	Associate	32845957
Fanconi Anemia Complementation Group J	Associate	31784504
Gastrointestinal Diseases	Associate	34162668
Genetic Diseases Inborn	Associate	21737484, 24055949
Genetic Diseases Inborn	Inhibit	35132195
Graft vs Host Disease	Associate	37231055
Hemangioblastoma	Associate	26768750
Hematologic Diseases	Associate	24324784, 32845957, 33031316
Hematologic Neoplasms	Associate	10753856, 22422485, 24324784
HIV Infections	Associate	38286172
Hypoxia	Associate	27899802
Immune System Diseases	Associate	35058929, 38438084
Immunologic Deficiency Syndromes	Associate	29889099, 32845957, 34162668, 34920454
Infections	Associate	25761407, 25806972
Inflammation	Associate	28542447, 33568645, 34649980, 34917094, 35815090
Inflammatory Bowel Diseases	Associate	29991969
Job Syndrome	Associate	35132195
Leukemia	Associate	11489963, 11745366, 11937265, 18650450, 21960589, 22106042, 22875627, 24324784, 24564228, 26655717, 27067989, 27899802, 28751559, 31487824, 33531656, 35525905, 35534777, 9892693 View all (3 more)
Leukemia B Cell	Inhibit	22106042
Leukemia B Cell	Associate	22848414, 24673583, 29889099, 32138279
Leukemia Biphenotypic Acute	Associate	19138562, 25790293, 26018335, 26655717, 32058318, 32138279, 32661308, 33890726, 34410295, 34957727, 37345307
Leukemia Biphenotypic Acute	Inhibit	25678190
Leukemia Lymphocytic Chronic B Cell	Associate	11054064, 24324784, 27198500
Leukemia Lymphoma Adult T Cell	Associate	11937265
Leukemia Myelogenous Chronic BCR ABL Positive	Associate	12648068, 18650450, 19589926, 20082691, 29967129, 35815090, 35896598
Leukemia Myeloid	Associate	18519632
Leukemia Myeloid Acute	Associate	11054064, 22422485, 22581002, 25331116, 26069293, 32011516, 33081843, 33560403, 33911178, 35534777, 35562747, 35708137, 36442087, 37833543, 38096371
Leukemia Myeloid Chronic Phase	Associate	32782381
Leukemia Promyelocytic Acute	Associate	26886259
Leukemia T Cell	Associate	11054064
Lung Neoplasms	Associate	23580163
Lupus Erythematosus Systemic	Associate	22046141, 23236436, 26200652, 29945920, 33031316, 33727237
Lymphoma	Associate	27588474
Lymphoma B Cell	Associate	22106042, 35887217
Lymphoma Large B Cell Diffuse	Associate	10753856
Lymphoma Primary Effusion	Associate	29954751
Lymphoma T Cell	Associate	15015965, 34936696
malar rash	Associate	33031316
Multiple Myeloma	Associate	24292625, 24914135, 26183205, 26269456, 26430725, 27142104, 27881177, 28052520, 28643330, 29729093, 30228232, 30234487, 30696815, 30760870, 30898137 View all (9 more)
Muscular Dystrophy Duchenne	Associate	34922439
Myeloproliferative Disorders	Associate	27415155
Neoplasm Metastasis	Associate	32787735
Neoplasm Metastasis	Inhibit	35815090
Neoplasms	Associate	11489963, 19138562, 21531982, 21737484, 25869284, 25928810, 26445409, 26575185, 27144525, 27726312, 29796114, 32787735, 32845957, 32958500, 33478584 View all (10 more)
Neoplasms	Inhibit	22106042, 24522918, 26069293, 26655717, 28030830, 31846142, 32138279, 33467550, 33531656, 35534777, 35815090, 37767021
Neoplasms Squamous Cell	Inhibit	31846142
Neoplastic Syndromes Hereditary	Associate	29763621
Neural Tube Defects	Associate	36442087
Neuroblastoma	Associate	15606754
Neutropenia	Associate	32845957
Opportunistic Infections	Associate	37231055
Pancreatic Neoplasms	Associate	26023084, 38644767
Pdgfrb Associated Chronic Eosinophilic Leukemia	Associate	32011516
Periodontitis	Associate	34859622
Philadelphia Chromosome	Associate	23521501, 26892479, 30190342, 33895809
Pituitary Neoplasms	Associate	12937159
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	22848414, 23930217, 23974192, 24324784, 24366361, 24578304, 26655717, 29498923, 30487223, 30874617, 34547766, 37419244
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	11937265, 18650450, 19129520, 19589926, 19684604, 20042726, 21270240, 21740479, 22848414, 22875627, 23065506, 23508010, 23521501, 23585525, 23692655 View all (55 more)
Precursor Cell Lymphoblastic Leukemia Lymphoma	Stimulate	19684604
Precursor Cell Lymphoblastic Leukemia Lymphoma	Inhibit	21960589, 24522918, 25261097, 27229714, 27419633, 29247779, 34477813, 35132195
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Inhibit	11937265, 33467550
Precursor T Cell Lymphoblastic Leukemia Lymphoma	Associate	12028018, 19138562, 22237106, 23521501, 26404892, 27604872, 29889099, 30874617, 34560013, 34980595, 36281717, 36833191, 37345307, 39940843
Prodromal Symptoms	Associate	32958500
Propping Zerres syndrome	Associate	25261097
Pulmonary Disease Chronic Obstructive	Associate	36655999
Recurrence	Associate	26131904
Severe Combined Immunodeficiency	Associate	37771582
Short QT Syndrome 1	Associate	32328155
Squamous Cell Carcinoma of Head and Neck	Inhibit	16309199
Squamous Cell Carcinoma of Head and Neck	Associate	34091115
Stomach Neoplasms	Associate	35874675
Syndrome	Associate	35058929
Synovitis	Associate	33568645
Tetra amelia with ectodermal dysplasia and lacrimal duct abnormalities	Associate	37156894
Thrombocytopenia	Associate	32845957, 37833543
X Linked Combined Immunodeficiency Diseases	Associate	29889099, 37771582

IKZF1 (IKAROS family zinc finger 1)