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The protein encoded by this gene is a member of the POU-domain transcription factor family and may be involved in maintaining visual system neurons in the retina. The level of the encoded protein is also elevated in a majority of breast cancers, resulting in accelerated tumor growth. [provided by RefSeq, Sep 2011]
POU4F2 (POU Class 4 Homeobox 2) is a Protein Coding gene. Diseases associated with POU4F2 include Differentiating Neuroblastoma and Thrombophlebitis Migrans. Among its related pathways are Gene Expression and Direct p53 effectors. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is POU4F1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding | IDA | 17637757 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IDA,ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IEA,ISS | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IEA,ISS | 17145718 |
GO:0002039 | p53 binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,ISS | -- |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005667 | transcription factor complex | IGI | 17145718 |
GO:0005719 | nuclear euchromatin | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Regulation of TP53 Activity | ||
2 | Gene Expression |
.48
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|
3 | Direct p53 effectors |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0000165 | MAPK cascade | IDA | 21241485 |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006915 | apoptotic process | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | POU4F2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | POU4F2 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | POU4F2 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | POU4F2 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Pou4f2 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Pou4f2 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | POU4F2 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | BRN3 31 |
|
OneToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | pou4f2 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | pou4f2 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | acj6 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | unc-86 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 04 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
781733 | Benign: not provided | 146,640,520(+) | G/T | SYNONYMOUS_VARIANT | |
790312 | Benign: not provided | 146,639,995(+) | C/A | MISSENSE_VARIANT | |
rs13152799 | - | p.Ile40Thr |
Disorder | Aliases | PubMed IDs |
---|---|---|
differentiating neuroblastoma |
|
|
thrombophlebitis migrans |
|
|
optic nerve hypoplasia, bilateral |
|
|
ischemic neuropathy |
|
|
optic nerve disease |
|
|