Gene Gene information from NCBI Gene database.
Entrez ID 22806
Gene name IKAROS family zinc finger 3
Gene symbol IKZF3
Synonyms (NCBI Gene)
AIOAIOLOSIMD84ZNFN1A3
Chromosome 17
Chromosome location 17q12-q21.1
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 prod
miRNA miRNA information provided by mirtarbase database.
493
miRTarBase ID miRNA Experiments Reference
MIRT054201 hsa-miR-125b-5p Luciferase reporter assayMicroarrayqRT-PCRWestern blot 22723551
MIRT681314 hsa-miR-890 HITS-CLIP 23706177
MIRT511400 hsa-miR-4695-5p HITS-CLIP 23706177
MIRT511399 hsa-miR-4779 HITS-CLIP 23706177
MIRT511398 hsa-miR-3929 HITS-CLIP 23706177
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
40
GO ID Ontology Definition Evidence Reference
GO:0000977 Function RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
GO:0000978 Function RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IEA
GO:0001228 Function DNA-binding transcription activator activity, RNA polymerase II-specific IMP 34155405
GO:0003677 Function DNA binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
606221 13178 ENSG00000161405
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UKT9
Protein name Zinc finger protein Aiolos (Ikaros family zinc finger protein 3)
Protein function Transcription factor that plays an important role in the regulation of lymphocyte differentiation. Plays an essential role in regulation of B-cell differentiation, proliferation and maturation to an effector state. Involved in regulating BCL2 ex
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00096 zf-C2H2 146 168 Zinc finger, C2H2 type Domain
PF00096 zf-C2H2 202 223 Zinc finger, C2H2 type Domain
Tissue specificity TISSUE SPECIFICITY: Expressed most strongly in peripheral blood leukocytes, the spleen, and the thymus. {ECO:0000269|PubMed:17646674}.
Sequence
MEDIQTNAELKSTQEQSVPAESAAVLNDYSLTKSHEMENVDSGEGPANEDEDIGDDSMKV
KDEYSERDENVLKSEPMGNAEEPEIPYSYSREYNEYENIKLERHVVSFDSSRPTSGKMNC
DVCGLSCISFNVLMVHKRSHTGERPFQCNQCGASFTQKGNLLRHIKLHTGEKPFKCHLCN
YACQRRDALTGHLRTHSVEKPYKCEFCGRSYKQRSSLEEHKERCRTFLQSTDPGDTASAE
ARHIKAEMGSERALVLDRLASNVAKRKSSMPQKFIGEKRHCFDVNYNSSYMYEKESELIQ
TRMMDQAINNAISYLGAEALRPLVQTPPAPTSEMVPVISSMYPIALTRAEMSNGAPQELE
KKSIHLPEKSVPSERGLSPNNSGHDSTDTDSNHEERQNHIYQQNHMVLSRARNGMPLLKE
VPRSYELLKPPPICPRDSVKVINKEGEVMDVYRCDHCRVLFLDYVMFTIHMGCHGFRDPF
ECNMCGYRSHDRYEFSSHIARGEHRALLK
Sequence length 509
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
32
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Immunodeficiency 84 Pathogenic rs2143873917 RCV001543157
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ARTHRITIS, RHEUMATOID CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ASTHMA CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
CTD, Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ECZEMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Agammaglobulinemia Agammaglobulinemia Pubtator 38015619 Associate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 29193869 Stimulate
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 35883614 Inhibit
★☆☆☆☆
Found in Text Mining only
Asthma Asthma GWASDB_DG 20860503, 21804549, 24406073
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma Pubtator 21985515, 23154084, 24406073, 28241063, 28668238, 32078577, 36967681, 38494094, 40105091 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 22626592, 23622005, 24406073, 25256354, 28241063, 28262390
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma GWASCAT_DG 24388013, 28461288, 30787307
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma CTD_human_DG 25256354
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis Pubtator 38193570 Associate
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 21270240
★☆☆☆☆
Found in Text Mining only