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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]
IKZF3 (IKAROS Family Zinc Finger 3) is a Protein Coding gene. Diseases associated with IKZF3 include Leukemia, Chronic Lymphocytic and Primary Biliary Cirrhosis. Among its related pathways are IL-2 Signaling Pathway and NF-kappaB Signaling. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is IKZF1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IBA | 21873635 |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IEA | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA | -- |
GO:0003676 | nucleic acid binding | IEA | -- |
GO:0003677 | DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA,IDA | 10369681 |
GO:0005654 | nucleoplasm | IBA,IDA | -- |
GO:0005737 | cytoplasm | IEA,IDA | 10369681 |
GO:0005829 | cytosol | IDA | -- |
GO:0005886 | plasma membrane | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | NF-kappaB Signaling | ||
2 | IL-2 Signaling Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006357 | regulation of transcription by RNA polymerase II | TAS | 10552935 |
GO:0007498 | mesoderm development | TAS | 10552935 |
GO:0009617 | response to bacterium | IEA | -- |
GO:0030888 | regulation of B cell proliferation | ISS | -- |
GO:0042113 | B cell activation | IEA | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9a | · | 9b | · | 9c |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||
SP4: | - | - | - | - | |||||||||||||||||||||||
SP5: | - | - | - | - | |||||||||||||||||||||||
SP6: | - | - | - | - | - | ||||||||||||||||||||||
SP7: | - | - | - | - | - | ||||||||||||||||||||||
SP8: | - | - | - | - | |||||||||||||||||||||||
SP9: | - | - | - | - | |||||||||||||||||||||||
SP10: | - | - | - | - | |||||||||||||||||||||||
SP11: | - | - | |||||||||||||||||||||||||
SP12: | - | - | - | - | - | - | |||||||||||||||||||||
SP13: | - | - | - | - | - | - | |||||||||||||||||||||
SP14: | - | - | - | - | - | ||||||||||||||||||||||
SP15: | - | - | - | - | - | ||||||||||||||||||||||
SP16: | - | - | - | - | - | - | - | ||||||||||||||||||||
SP17: | - |
This gene was present in the common ancestor of chordates.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IKZF3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IKZF3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IKZF3 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ikzf3 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ikzf3 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IKZF3 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | IKZF3 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | AIOLOS 31 |
|
OneToOne | |
IKZF3 30 |
|
||||
Lizard (Anolis carolinensis) |
Reptilia | IKZF3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ikzf3 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.10790 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
718369 | Benign: not provided | 39,766,369(-) | G/A | SYNONYMOUS_VARIANT | |
VAR_064724 | - | p.Glu277Gln |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1009212 | CNV | deletion | 20482838 |
esv1483215 | CNV | deletion | 17803354 |
esv2659729 | CNV | deletion | 23128226 |
esv2715904 | CNV | deletion | 23290073 |
esv3640548 | CNV | loss | 21293372 |
nsv1070404 | CNV | deletion | 25765185 |
nsv1116523 | OTHER | inversion | 24896259 |
nsv1121720 | CNV | deletion | 24896259 |
nsv1146669 | OTHER | inversion | 26484159 |
nsv978421 | CNV | duplication | 23825009 |
Disorder | Aliases | PubMed IDs |
---|---|---|
leukemia, chronic lymphocytic |
|
|
primary biliary cirrhosis |
|
|
leukemia, acute lymphoblastic |
|
|
autosomal recessive non-syndromic intellectual disability |
|
|
myeloma, multiple |
|
|