IKZF3 IKAROS family zinc finger 3 [Homo sapiens (human)] - Gene

Summary

Official Symbol: IKZF3provided by HGNC
Official Full Name: IKAROS family zinc finger 3provided by HGNC
Primary source: HGNC:HGNC:13178
See related: Ensembl:ENSG00000161405 MIM:606221; AllianceGenome:HGNC:13178
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: AIO; IMD84; AIOLOS; ZNFN1A3
Summary: This gene encodes a member of the Ikaros family of zinc-finger proteins. Three members of this protein family (Ikaros, Aiolos and Helios) are hematopoietic-specific transcription factors involved in the regulation of lymphocyte development. This gene product is a transcription factor that is important in the regulation of B lymphocyte proliferation and differentiation. Both Ikaros and Aiolos can participate in chromatin remodeling. Regulation of gene expression in B lymphocytes by Aiolos is complex as it appears to require the sequential formation of Ikaros homodimers, Ikaros/Aiolos heterodimers, and Aiolos homodimers. Several alternative transcripts encoding different isoforms have been described, as well as some non-protein coding variants. [provided by RefSeq, Apr 2012]
Expression: Biased expression in lymph node (RPKM 17.4), spleen (RPKM 11.5) and 10 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 17q12-q21.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	17	NC_000017.11 (39757715..39864312, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	17	NC_060941.1 (40621278..40728035, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	17	NC_000017.10 (37913968..38020565, complement)

Chromosome 17 - NC_000017.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
Title: IKZF3 polymorphisms contribute to the increased risk of acute lymphoblastic leukemia in children.
Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Title: Disease-associated AIOLOS variants lead to immune deficiency/dysregulation by haploinsufficiency and redefine AIOLOS functional domains.
Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
Title: Genetic variations in IKZF3, LET7-a2, and CDKN2B-AS1: Exploring associations with metabolic syndrome susceptibility and clinical manifestations.
IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
Title: IKZF3 is a novel prognostic biomarker for head and neck squamous cell carcinoma: A study based on bioinformatics analysis.
IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
Title: IKZF3 amplification frequently occurs in HER2-positive breast cancer and is a potential therapeutic target.
AIOLOS Variants Causing Immunodeficiency in Human and Mice.
Title: AIOLOS Variants Causing Immunodeficiency in Human and Mice.
Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
Title: Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity.
Aiolos regulates eosinophil migration into tissues.
Title: Aiolos regulates eosinophil migration into tissues.
IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
Title: IKZF3 deficiency potentiates chimeric antigen receptor T cells targeting solid tumors.
T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.
Title: T and B cell abnormalities, pneumocystis pneumonia, and chronic lymphocytic leukemia associated with an AIOLOS defect in patients.

Submit: New GeneRIF Correction See all GeneRIFs (50)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Immunodeficiency 84 MedGen: C5561940 OMIM: 619437 GeneReviews: Not available	not available

EBI GWAS Catalog

Description
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. EBI GWAS Catalog EBI GWAS CatalogPubMed
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. EBI GWAS Catalog EBI GWAS CatalogPubMed
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Vif	vif	HIV-1 Vif interacts with IKZF3; predicted interaction to be relevant to gene regulation	PubMed
	vif	HIV-1 Vif downregulates the expression of IKAROS family zinc finger 3 (IKZF3) in Vif-expression T cells	PubMed
integrase	gag-pol	Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that IKZF3 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with IKZF3	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:434012 (e-PCR)
- UniSTS:157204

ZNFN1A3_3785 (e-PCR)
- UniSTS:462622

A005M19 (e-PCR)
- UniSTS:70686

SHGC-111679 (e-PCR)
- UniSTS:168478

D11S2560 (e-PCR)
- UniSTS:37928

RH104281 (e-PCR)
- UniSTS:98606

PMC156606P1 (e-PCR)
- UniSTS:271408

D8S2279 (e-PCR)
- UniSTS:473907

L17796 (e-PCR)
- UniSTS:12896

G32239 (e-PCR)
- UniSTS:116842

D15S1477 (e-PCR)
- UniSTS:474482

RH80030 (e-PCR)
- UniSTS:87680

SHGC-67307 (e-PCR)
- UniSTS:89991

RH46016 (e-PCR)
- UniSTS:14525

GDB:631802 (e-PCR)
- UniSTS:158429

D15S1390 (e-PCR)
- UniSTS:474340

RH76539 (e-PCR)
- UniSTS:83690

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables histone deacetylase binding	IPI Inferred from Physical Interaction more info	PubMed
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables promoter-specific chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein heterodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in B cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in T cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in mesoderm development	TAS Traceable Author Statement more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in regulation of B cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of B cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of apoptotic process	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of lymphocyte differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to bacterium	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: zinc finger protein Aiolos

Names: zinc finger DNA binding protein Aiolos; zinc finger protein, subfamily 1A, 3 (Aiolos)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_029104.2 RefSeqGene

Range

4877..111471

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001257408.2 → NP_001244337.1 zinc finger protein Aiolos isoform 7

See identical proteins and their annotated locations for NP_001244337.1

Status: REVIEWED

Description

Transcript Variant: This variant (7) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (7, also known as Aio-del2) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377973

Consensus CDS

CCDS58540.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000438972.1, ENST00000535189.5

Conserved Domains (3) summary

COG5048
Location:45 → 185

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:86 → 106

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:99 → 123

zf-H2C2_2; Zinc-finger double domain
NM_001257409.2 → NP_001244338.1 zinc finger protein Aiolos isoform 8

See identical proteins and their annotated locations for NP_001244338.1

Status: REVIEWED

Description

Transcript Variant: This variant (8) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (8, also known as Aio-del2,5) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377975

Consensus CDS

CCDS58539.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000403776.2, ENST00000439167.6

Conserved Domains (2) summary

sd00017
Location:86 → 106

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:99 → 123

zf-H2C2_2; Zinc-finger double domain
NM_001257410.2 → NP_001244339.1 zinc finger protein Aiolos isoform 9

See identical proteins and their annotated locations for NP_001244339.1

Status: REVIEWED

Description

Transcript Variant: This variant (9) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (9, also known as Aio-del3) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377976

Consensus CDS

CCDS58544.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000367194.2, ENST00000377958.7

Conserved Domains (4) summary

COG5048
Location:58 → 132

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:61 → 81

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam00096
Location:59 → 81

zf-C2H2; Zinc finger, C2H2 type

pfam13465
Location:73 → 96

zf-H2C2_2; Zinc-finger double domain
NM_001257411.2 → NP_001244340.1 zinc finger protein Aiolos isoform 10

See identical proteins and their annotated locations for NP_001244340.1

Status: REVIEWED

Description

Transcript Variant: This variant (10) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (10, also known as Aio-del3,4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377977

Consensus CDS

CCDS58543.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000367179.3, ENST00000377944.7

Conserved Domains (2) summary

COG5189
Location:33 → 78

SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]

sd00017
Location:61 → 78

ZF_C2H2; C2H2 Zn finger [structural motif]
NM_001257412.2 → NP_001244341.1 zinc finger protein Aiolos isoform 11

See identical proteins and their annotated locations for NP_001244341.1

Status: REVIEWED

Description

Transcript Variant: This variant (11) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (11, also known as Aio-del3,4,5) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377978

Consensus CDS

CCDS58542.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000377741.2, ENST00000394189.6
NM_001257413.2 → NP_001244342.1 zinc finger protein Aiolos isoform 12

See identical proteins and their annotated locations for NP_001244342.1

Status: REVIEWED

Description

Transcript Variant: This variant (12) lacks four alternate in-frame exons compared to variant 1. The resulting isoform (12, also known as Aio-del3,4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377979

Consensus CDS

CCDS58541.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000367188.2, ENST00000377952.6
NM_001257414.2 → NP_001244343.1 zinc finger protein Aiolos isoform 13

See identical proteins and their annotated locations for NP_001244343.1

Status: REVIEWED

Description

Transcript Variant: This variant (13) lacks three alternate in-frame exons compared to variant 1. The resulting isoform (13, also known as Aio-del4,5,6) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AI866838, AY377980

Consensus CDS

CCDS58545.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000367180.3, ENST00000377945.7
NM_001284514.2 → NP_001271443.1 zinc finger protein Aiolos isoform 14

See identical proteins and their annotated locations for NP_001271443.1

Status: REVIEWED

Description

Transcript Variant: This variant (14) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).

Source sequence(s)

AC079199, AC090844, AI866838, AY377981

Consensus CDS

CCDS74055.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000485515.1, ENST00000623724.3
NM_001284515.2 → NP_001271444.1 zinc finger protein Aiolos isoform 14

See identical proteins and their annotated locations for NP_001271444.1

Status: REVIEWED

Description

Transcript Variant: This variant (15) uses an alternate 5' exon structure and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).

Source sequence(s)

AC079199, AC090844, AI866838, AY377982

Consensus CDS

CCDS74055.1

UniProtKB/Swiss-Prot

Q9UKT9
NM_001284516.1 → NP_001271445.1 zinc finger protein Aiolos isoform 14

See identical proteins and their annotated locations for NP_001271445.1

Status: REVIEWED

Description

Transcript Variant: This variant (16) represents use of an alternate promoter and thus differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (14) with a shorter N-terminus, compared to isoform 1. Variants 14, 15, and 16 encode the same isoform (14).

Source sequence(s)

AC079199, AI866838, AK301250

Consensus CDS

CCDS74055.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000462452.1, ENST00000583368.1
NM_012481.5 → NP_036613.2 zinc finger protein Aiolos isoform 1

See identical proteins and their annotated locations for NP_036613.2

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1, also known as Aio-1).

Source sequence(s)

AC079199, AC090844, AF129512, AI866838

Consensus CDS

CCDS11346.1

UniProtKB/Swiss-Prot

B4DVV5, Q69BL6, Q69BL7, Q69BL8, Q69BL9, Q69BM0, Q69BM1, Q69BM2, Q69BM3, Q69BM5, Q8N574, Q8WWQ9, Q8WWR0, Q8WWR1, Q8WWR2, Q8WWR3, Q9UKT9

Related

ENSP00000344544.3, ENST00000346872.8

Conserved Domains (3) summary

COG5048
Location:79 → 219

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:120 → 140

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:133 → 157

zf-H2C2_2; Zinc-finger double domain
NM_183228.3 → NP_899051.1 zinc finger protein Aiolos isoform 2

See identical proteins and their annotated locations for NP_899051.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (2, also known as Aio-del4) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AF129512, AI866838, AJ292565

Consensus CDS

CCDS11347.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000420463.1, ENST00000467757.5

Conserved Domains (2) summary

sd00017
Location:120 → 140

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:133 → 157

zf-H2C2_2; Zinc-finger double domain
NM_183229.3 → NP_899052.1 zinc finger protein Aiolos isoform 3

See identical proteins and their annotated locations for NP_899052.1

Status: REVIEWED

Description

Transcript Variant: This variant (3) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (3, also known as Aio-del5) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AF129512, AI866838, AJ292566

Consensus CDS

CCDS11348.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000345622.3, ENST00000351680.7

Conserved Domains (2) summary

sd00017
Location:120 → 140

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:133 → 157

zf-H2C2_2; Zinc-finger double domain
NM_183230.3 → NP_899053.1 zinc finger protein Aiolos isoform 4

See identical proteins and their annotated locations for NP_899053.1

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (4, also known as Aio-del6) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AF129512, AI866838, AJ292567

Consensus CDS

CCDS11349.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000344471.3, ENST00000350532.7

Conserved Domains (3) summary

COG5048
Location:79 → 219

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:120 → 140

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:133 → 157

zf-H2C2_2; Zinc-finger double domain
NM_183231.3 → NP_899054.1 zinc finger protein Aiolos isoform 5

See identical proteins and their annotated locations for NP_899054.1

Status: REVIEWED

Description

Transcript Variant: This variant (5) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (5, also known as Aio-del4,5) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AF129512, AI866838, AJ292568

Consensus CDS

CCDS11350.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000403027.2, ENST00000439016.2
NM_183232.3 → NP_899055.1 zinc finger protein Aiolos isoform 6

See identical proteins and their annotated locations for NP_899055.1

Status: REVIEWED

Description

Transcript Variant: This variant (6) lacks two alternate in-frame exons compared to variant 1. The resulting isoform (6, also known as Aio-del5,6) has the same N- and C-termini but is shorter compared to isoform 1.

Source sequence(s)

AC079199, AC090844, AF129512, AI866838, AJ292569

Consensus CDS

CCDS11351.1

UniProtKB/Swiss-Prot

Q9UKT9

Related

ENSP00000341977.3, ENST00000346243.7

Conserved Domains (3) summary

COG5048
Location:79 → 241

COG5048; FOG: Zn-finger [General function prediction only]

sd00017
Location:120 → 140

ZF_C2H2; C2H2 Zn finger [structural motif]

pfam13465
Location:133 → 157

zf-H2C2_2; Zinc-finger double domain