IKZF1 - IKAROS family zinc finger 1 Gene

Homo sapiens

Also known as IK1; LYF1; LyF-1; CVID13; IKAROS; PPP1R92; PRO0758; ZNFN1A1; Hs.54452

Gene ID: 10320 | Gene type: protein coding

About IKZF1

Cytogenetic location: 7p12.2 Genomic coordinates (GRCh38): 7:50,303,455-50,405,101 (from NCBI)

This gene has 22 transcripts (splice variants), 209 orthologues, 11 paralogues and is associated with 106 phenotypes. Biased expression in lymph node (RPKM 13.3), appendix (RPKM 8.6) and 10 other tissues.

Summary

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 as a regulator of lymphocyte differentiation. Several alternatively spliced transcript variants encoding different isoforms have been described for this gene. Most isoforms share a common C-terminal domain, which contains two zinc finger motifs that are required for hetero- or homo-dimerization, and for interactions with other proteins. The isoforms, however, differ in the number of N-terminal zinc finger motifs that bind DNA and in nuclear localization signal presence, resulting in members with and without DNA-binding properties. Only a few isoforms contain the requisite three or more N-terminal zinc motifs that confer high affinity binding to a specific core DNA sequence element in the promoters of target genes. The non-DNA-binding isoforms are largely found in the cytoplasm, and are thought to function as dominant-negative factors. Overexpression of some dominant-negative isoforms have been associated with B-cell malignancies, such as acute lymphoblastic leukemia (ALL). [provided by RefSeq, May 2014]

IKZF1 Products(18)

mRNA	Protein	Name
NM_001220765.3	NP_001207694.1	DNA-binding protein Ikaros isoform 2
NM_001220767.2	NP_001207696.1	DNA-binding protein Ikaros isoform 4
NM_001220768.2	NP_001207697.1	DNA-binding protein Ikaros isoform 5
NM_001220770.2	NP_001207699.1	DNA-binding protein Ikaros isoform 7
NM_001220771.2	NP_001207700.1	DNA-binding protein Ikaros isoform 8
NM_001291837.2	NP_001278766.1	DNA-binding protein Ikaros isoform 2
NM_001291838.2	NP_001278767.1	DNA-binding protein Ikaros isoform 3
NM_001291839.2	NP_001278768.1	DNA-binding protein Ikaros isoform 6
NM_001291840.1	NP_001278769.1	DNA-binding protein Ikaros isoform Ik-6
NM_001291841.1	NP_001278770.1	DNA-binding protein Ikaros isoform Ik-7
NM_001291842.1	NP_001278771.1	DNA-binding protein Ikaros isoform Ik-7(del)
NM_001291843.1	NP_001278772.1	DNA-binding protein Ikaros isoform Ik-8
NM_001291844.1	NP_001278773.1	DNA-binding protein Ikaros isoform Ik-8(del)
NM_001291845.2	NP_001278774.1	DNA-binding protein Ikaros isoform 15
NM_001291846.2	NP_001278775.1	DNA-binding protein Ikaros isoform 16
NM_001291847.2	NP_001278776.1	DNA-binding protein Ikaros isoform 16
NM_001410879.1	NP_001397808.1	DNA-binding protein Ikaros isoform 17
NM_006060.6	NP_006051.1	DNA-binding protein Ikaros isoform 1

IKZF1 Protein Structure

zf-H2C2_2

0
100
200
300
400
519 a.a.

Protein Preferred Names

Protein Names

DNA-binding protein Ikaros

CLL-associated antigen KW-6

Related Diseases

Diseases

Alias

Immunodeficiency, Common Variable, 13

Pancytopenia Due To Ikzf1 Mutations	CVID13
Common Variable Immunodeficiency 13	Cid Due To Ikaros Deficiency
Combined Immunodeficiency Due To Ikaros Deficiency

Diamond-Blackfan Anemia-Like

DBAL

Severe Cutaneous Adverse Reaction

Stevens-Johnson Syndrome	Toxic Epidermal Necrolysis
Drug-Induced Stevens Johnson Syndrome	Stevens-Johnson Syndrome Toxic Epidermal Necrolysis Spectrum
Susceptibility To Severe Cutaneous Adverse Reaction	Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis
Lyell'S Syndrome	Lyell Syndrome
Severe Cutaneous Adverse Reaction, Susceptibility To	Hypersensitivity Syndrome, Carbamazepine-Induced, Susceptibility To
Hypersensitivity Syndrome, Carbamazepine-Induced	Stevens-Johnson Syndrome, Susceptibility To
Toxic Epidermal Necrolysis, Susceptibility To	Sjs/Ten
Susceptibility To Severe Cutaneous Adverse Reaction Ity To	Mycoplasma-Induced Stevens Johnson Syndrome
Dermatostomatitis, Stevens Johnson Type	Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Sjs-Ten	Toxic Epidermolysis
SJS	Dermatostomatitis Stevens Johnson Type
Ten	Sjs/Ten - [Stevens-Johnson Syndrome And Toxic Epidermal Necrolysis]
Ten - [Toxic Epidermal Necrolysis]

B-Cell Adult Acute Lymphocytic Leukemia

Adult B Acute Lymphoblastic Leukemia	Adult B Acute Lymphoblastic Leukaemia
Adult B-Cell Acute Lymphoblastic Leukaemia	Adult B-Cell Acute Lymphoblastic Leukemia
Adult B-Cell Lymphocytic Leukaemia	Adult B-Cell Lymphocytic Leukemia
Adult B-Lymphoblastic Leukaemia	Adult B-Lymphoblastic Leukemia
B-Cell Adult Acute Lymphocytic Leukaemia	B-Cell Adult Acute Lymphoblastic Leukemia

B-Lymphoblastic Leukemia/Lymphoma With Recurrent Genetic Abnormality

Leukemia

Leukemias	Leukaemia, Unspecified, Without Mention Of Remission
Aleukemic Leukaemia	Chronic Leukaemia
Subacute Leukaemia	Leukaemia Disorder
Leukaemia Nos

T-Cell Acute Lymphoblastic Leukemia

T-Cell Leukemia	Acute T Cell Leukemia
Precursor T Lymphoblastic Leukemia	Precursor T-Lymphoblastic Lymphoma/Leukemia
T Acute Lymphoblastic Leukemia	T-Cell Acute Lymphocytic Leukaemia
T-Cell Lymphoblastic Leukemia/Lymphoma	Leukemia T-Cell
Leukemia, T-Cell	Leukemia, Acute, Lymphoblastic, T-Cell
Leukemia, T-Cell Acute Lymphoblastic	Leukemia, Acute T-Cell
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Precursor T-Cell Lymphoblastic Lymphoma
Precursor T Cell Lymphoblastic Leukemia/Lymphoblastic Lymphoma

Intellectual Developmental Disorder, Autosomal Dominant 33

MRD33	Autosomal Dominant Non-Syndromic Intellectual Disability 33
Mental Retardation, Autosomal Dominant 33	Autosomal Dominant Intellectual Developmental Disorder 33
Autosomal Dominant Mental Retardation 33	Mental Retardation, Autosomal Dominant, Type 33

B-Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like

B Lymphoblastic Leukemia/Lymphoma, Bcr-Abl1-Like

B-All Bcr-Abl1-Like

B-Lymphoblastic Leukemia/Lymphoma With Iamp21

B-All With Iamp21

Intrachromosomal Amplification Of Chromosome 21

Pancytopenia

B-Lymphoblastic Leukemia/Lymphoma With Bcr-Abl1

B-All With Bcr-Abl1	B-Lymphoblastic Leukemia/Lymphoma With T(9
22)(Q34.1	Q11.2)
Bcr-Abl1	B Lymphoblastic Leukemia/Lymphoma With T(9
22)(Q34.1	Q11.2)
Bcr-Abl1

Leukemia, Acute Lymphoblastic

Acute Lymphoblastic Leukemia	ALL
Acute Lymphocytic Leukemia	Leukemia, Acute Lymphocytic, Susceptibility To, 1
Acute Lymphoblastic Leukaemia	Precursor Lymphoblastic Lymphoma/Leukemia
Precursor Lymphoid Neoplasm	Leukemia, Acute Lymphoblastic, Susceptibility To
B-Cell Acute Lymphoblastic Leukemia	Leukemia, Acute Lymphocytic 1
Acute Lymphocytic Leukaemia	Acute Lymphoblastic Leukemia/Lymphoma
All1	Childhood Acute Lymphoblastic Leukemia
Leukemia Acute Lymphoblastic 1	Leukemia Acute Lymphoblastic B-Hyperdiploid
Leukemia Acute Lymphocytic	Leukemia Acute Lymphocytic 1
Leukemia B-Cell Acute Lymphoblastic	Leukemia T-Cell Acute Lymphoblastic
Leukemia, Acute Lymphoblastic, 3	ALL3
Lymphoblastic Leukemia Acute	Leukemia, Acute, Lymphoblastic
Precursor Cell Lymphoblastic Leukemia Lymphoma	Leukemia, Lymphocytic, Acute, L1
Leukemia, Acute Lymphoblastic, Susceptibility To, 3

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency	Congenital Combined Immunodeficiency
Syndrome With Combined Immunodeficiency	Combined T And B Cell Immunodeficiency
Combined Immunity Deficiency	Combined Immunodeficiency Syndrome
Combined T-Cell And B-Cell Immunodeficiency	Lymphopenic Agammaglobulinaemia

Lymphopenia

Lymphocytopenia

Adult Acute Lymphocytic Leukemia

Adult Acute Lymphoid Leukemia

Adult All

Childhood Acute Lymphocytic Leukemia

Childhood Acute Lymphoblastic Leukemia	Childhood All
Pediatric Acute Lymphoblastic Leukemia	Lymphoblastic Leukemia Acute Childhood

B-Cell Lymphoma

Lymphoma, B-Cell	B-Cell Lymphomas
B-Cell Lymphocytic Neoplasm	Lymphoma B-Cell
B-Cell Lymphoma Nos

Joubert Syndrome 6

JBTS6

Joubert Syndrome, Type 6

Trichorhinophalangeal Syndrome, Type I

Trichorhinophalangeal Dysplasia Type I	TRPS1
Trichorhinophalangeal Syndrome Type I	Trps I
Trichorhinophalangeal Syndrome Type 1	Type I Trichorhinophalangeal Syndrome
Giedion Syndrome	Trp Syndrome
Tricho-Rhino-Phalangeal Syndrome 1	Trichorhinophalangeal Syndrome, Type Iii

B-Lymphoblastic Leukemia/Lymphoma With Etv6-Runx1

B-All With Etv6-Runx1	B-Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1	B Lymphoblastic Leukemia/Lymphoma With T(12
21)(P13.2	Q22.1)
Etv6-Runx1

Childhood B-Cell Acute Lymphoblastic Leukemia

B-Cell Childhood Acute Lymphoblastic Leukemia

B-Lymphoblastic Leukemia/Lymphoma

B Lymphoblastic Leukemia/Lymphoma	B-All
Precursor B Lymphoblastic Lymphoma/Leukemia	C-All
Lymphoblastic Lymphoma, Nos	Common Precursor B All
Lymphoblastic B-Cell Lymphoma	Pro-B All
B-Precursor Lymphoma	Lbl - [Lymphoblastic Lymphoma]

Childhood Leukemia

Precursor T-Cell Acute Lymphoblastic Leukemia

T-All	Precursor T-Cell Acute Lymphoblastic Leukemia/Lymphoma
Precursor T-Cell Acute Lymphocytic Leukemia	Precursor T-Cell Acute Lymphocytic Leukemia/Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	Adult T-Cell Lymphoma/Leukemia

Dendritic Cell Deficiency

Down Syndrome

Trisomy 21	Complete Trisomy 21 Syndrome
Down'S Syndrome	Trisomy 21 Syndrome
Down'S Syndrome - Trisomy 21	Downs Syndrome
G Trisomy	47,Xx,+21
47,Xy,+21	Trisomy G
Down Syndrome, Susceptibility To	Chromosome 21 Trisomy
Trisomy 21 Nos	Abnormal Autosomes 21

Hematologic Cancer

Hematologic Neoplasm	Hematologic Neoplasms
Hematologic Malignancies	Blood Cancer
Hematologic Malignancy	Hematological Tumors
Hematopoietic And Lymphoid System Tumor	Hematopoietic Cancer
Hematopoietic Neoplasm	Hematopoietic Tumors
Malignant Hematopoietic Neoplasm	Liquid Tumor
Hematopoietic Neoplasms

Agammaglobulinemia 4, Autosomal Recessive

Agammaglobulinemia 4	AGM4
Agammaglobulinemia, Autosomal Recessive, Due To Blnk Defect	B Cell Linker Protein Deficiency
B-Cell Linker Protein Deficiency	Blnk Deficiency
Agammaglobulinemia Autosomal Recessive Due To Blnk Defect	Agammaglobulinemia, Type 4, Autosomal Recessive

Leukemia, Chronic Myeloid

Chronic Myeloid Leukemia	Chronic Myelogenous Leukemia
CML	Chronic Granulocytic Leukemia
Leukemia, Philadelphia Chromosome-Positive, Resistant To Imatinib	Chronic Myeloid Leukaemia
Chronic Granulocytic Leukaemia	Chronic Myelogenous Leukaemia
Myeloid Leukemia, Chronic	Leukemia, Chronic Myelogenous
Leukemia, Chronic Myeloid, Philadelphia Chromosome Positive, Somatic	Cml - Chronic Myelogenous Leukemia
Cgl	Chronic Myelocytic Leukemia
Leukemia, Chronic Myeloid, Atypical	ACML
Atypical Chronic Myeloid Leukemia Bcr-Abl1 Negative	Myeloid Leukemia Chronic
Leukemia, Myeloid, Chronic	Leukemia, Myeloid, Chronic, Atypical, Bcr-Abl Negative
Cml- [Chronic Myeloid Leukaemia]	Cgl - [Chronic Granulocytic Leukaemia]
Chronic Myelocytic Leukaemia

Trichorhinophalangeal Syndrome, Type Ii

Langer-Giedion Syndrome	Lgs
Trichorhinophalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome Type 2
TRPS2	Monosomy 8q24.1
Chromosome 8q24.1 Deletion Syndrome	Deletion 8q24.1
Giedion-Langer Syndrome	Trichorhinophalangeal Dysplasia Type Ii
Langer Giedion Syndrome	Trps 2
Tricho-Rhino-Phalangeal Syndrome Type Ii	Trichorhinophalangeal Syndrome With Exostosis
Trps Ii	Tricho-Rhino-Phalangeal Syndrome 2
8q24.1 Microdeletion Syndrome	8q24.1 Deletion Syndrome

Autosomal Recessive Intellectual Developmental Disorder

Mental Retardation, Autosomal Recessive	Autosomal Recessive Mental Retardation
Autosomal Recessive Non-Syndromic Mental Retardation	Autosomal Recessive Non-Syndromic Intellectual Disability

Systemic Lupus Erythematosus

Lupus Nephritis	SLE
Disseminated Lupus Erythematosus	Systemic Lupus Erythematosus, Susceptibility To
Lupus Erythematosus, Systemic	Lupus Nephritis, Susceptibility To
Libman-Sacks Disease	Systemic Lupus Erythematosus Susceptibility To
Sle - Lupus Erythematosus, Systemic	Le Syndrome
Lupus	Lupus Erythematosus Systemic
Lupus Erythematosus, Systemic, Susceptibility To	Lupus Vulgaris
Lupus Erythematosus, Discoid	Lupus Erythematosus
Systemic Lupus Erythematosus Nos	Sle - [Systemic Lupus Erythematosus]

Lymphoma, Non-Hodgkin, Familial

Non-Hodgkin Lymphoma	Lymphoma, Non-Hodgkin
NHL	Lymphoma, Non-Hodgkin, Somatic
Lymphoma, Follicular, Somatic	Familial Non-Hodgkin Lymphoma
Lymphoma Non-Hodgkins	Follicular Lymphoma, Somatic
Lymphosarcoma	Non-Hodgkins Lymphoma

Chromosomal Duplication Syndrome

Myelodysplastic Syndrome

Myelodysplastic Syndromes	Myelodysplasia
MDS	Myelodysplastic Syndrome Included
Myelodysplastic Syndrome, Susceptibility To, Included	Myelodysplastic Syndrome, Somatic
Myelodysplastic Syndrome, Susceptibility To

Leukemia, Acute Myeloid

Acute Myeloid Leukemia	Leukemia, Acute Myelogenous
Acute Myelogenous Leukemia	AML
Leukemia, Acute Myeloid, Susceptibility To	Acute Myeloblastic Leukemia
Leukemia, Acute Myeloid, Reduced Survival In, Somatic	Acute Myeloid Leukaemia
Leukemia, Myelocytic, Acute	Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome
Secondary Aml	Acute Myelocytic Leukemia
Acute Myeloid Leukemia, Somatic	Leukemia, Acute Myeloid, Somatic
Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic	Acute Myeloblastic Leukaemia
Acute Myelogenous Leukaemia	Aml - Acute Myeloid Leukemia
Acute Myeloid Leukemia With Cebpa Somatic Mutations	Aml With Cebpa Somatic Mutations
Inherited Acute Myeloid Leukemia	Familial Aml
Inherited Aml	Pure Familial Aml
Pure Familial Acute Myeloid Leukemia	Secondary Acute Myeloid Leukemia
Therapy-Related Aml And Myelodysplastic Syndrome	Acute Myeloid Leukemia, Secondary
Acute Non-Lymphoblastic Leukemia	Acute Non-Lymphocytic Leukemia
Acute Biphenotypic Leukemia	Acute Undifferentiated Leukemia
Acute Myeloblastic Leukaemia With Multilineage Dysplasia	Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission
Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-160531	IKZF1-degrader-1	Degrader	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	IKZF1	RGD	RGD:1562979
Macaca mulatta	IKZF1	VGNC	VGNC:73585
Canis familiaris	IKZF1	VGNC	VGNC:41923
Bos taurus	IKZF1	VGNC	VGNC:30103
Mus musculus	IKZF1	MGD	MGI:1342540
Felis catus	IKZF1	VGNC	VGNC:102613