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This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
IRF2BP2 (Interferon Regulatory Factor 2 Binding Protein 2) is a Protein Coding gene. Diseases associated with IRF2BP2 include Immunodeficiency, Common Variable, 14 and Acute Promyelocytic Leukemia. An important paralog of this gene is IRF2BPL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003714 | transcription corepressor activity | IDA | 12799427 |
GO:0046872 | metal ion binding | IEA | -- |
GO:0061630 | ubiquitin protein ligase activity | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IDA | 12799427 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA | 12799427 |
GO:0002327 | immature B cell differentiation | IDA | 27016798 |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
GO:0016567 | protein ubiquitination | IEA | -- |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b |
---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||
SP2: | - | ||||||||
SP3: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | IRF2BP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Irf2bp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Irf2bp2 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | IRF2BP2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | IRF2BP2 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | IRF2BP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | irf2bp2 30 |
|
||
LOC394851 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | irf2bp2-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | irf2bp2a 30 |
|
||
irf2bp2b 31 |
|
OneToOne | |||
wufj35c12 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.8448 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG11138 31 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | tag-260 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
636839 | Uncertain Significance: not provided | 234,608,668(-) | G/A | MISSENSE_VARIANT | |
636908 | Uncertain Significance: not provided | 234,608,513(-) | CCTT/C | INFRAME_DELETION | |
636922 | Uncertain Significance: not provided | 234,607,775(-) | CCT/C | FRAMESHIFT_VARIANT | |
636927 | Uncertain Significance: not provided | 234,609,143(-) | G/C | MISSENSE_VARIANT | |
636947 | Uncertain Significance: not provided | 234,608,536(-) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv859n54 | CNV | loss | 21841781 |
dgv860n54 | CNV | loss | 21841781 |
dgv861n54 | CNV | gain+loss | 21841781 |
dgv862n54 | CNV | gain | 21841781 |
dgv863n54 | CNV | loss | 21841781 |
esv25047 | CNV | loss | 19812545 |
nsv1068224 | CNV | deletion | 25765185 |
nsv1136104 | CNV | deletion | 24896259 |
nsv468395 | CNV | loss | 19166990 |
nsv4921 | CNV | insertion | 18451855 |
nsv549375 | CNV | loss | 21841781 |
nsv549379 | CNV | gain | 21841781 |
nsv827387 | CNV | gain | 20364138 |
nsv832914 | CNV | loss | 17160897 |
nsv953993 | CNV | duplication | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
immunodeficiency, common variable, 14 |
|
|
acute promyelocytic leukemia |
|
|
mesenchymal chondrosarcoma |
|
|
common variable immunodeficiency |
|
|