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This gene belongs to the forkhead family of transcription factors which is characterized by a distinct forkhead domain. Mutations in this gene cause autoimmune susceptibility 1. [provided by RefSeq, Nov 2008]
FOXD3 (Forkhead Box D3) is a Protein Coding gene. Diseases associated with FOXD3 include Autoimmune Disease 1 and Senile Entropion. Among its related pathways are Transcriptional regulation of pluripotent stem cells and Neural Crest Differentiation. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription regulatory region DNA binding. An important paralog of this gene is FOXD1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 22306510 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0001227 | DNA-binding transcription repressor activity, RNA polymerase II-specific | IDA | 22306510 |
GO:0003677 | DNA binding | IEA | -- |
GO:0003700 | DNA-binding transcription factor activity | ISS | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | IDA,ISA | -- |
GO:0005634 | nucleus | IBA | 21873635 |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional regulation of pluripotent stem cells | ||
2 | Wnt / Hedgehog / Notch | ||
3 | Embryonic and Induced Pluripotent Stem Cells and Lineage-specific Markers | ||
4 | Nanog in Mammalian ESC Pluripotency |
Nanog in Mammalian ESC Pluripotency
.62
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|
5 | Oct4 in Mammalian ESC Pluripotency |
Oct4 in Mammalian ESC Pluripotency
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|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IDA,ISS | -- |
GO:0001701 | in utero embryonic development | ISS | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0006357 | regulation of transcription by RNA polymerase II | IBA | 21873635 |
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 | FOXD3 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXD3 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXD3 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxd3 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Foxd3 30 17 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FOXD3 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxd3 30 |
|
||
Str.11302 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | foxd3b-A 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxd3 30 31 |
|
OneToOne | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.3286 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | fd96Cb 32 |
|
|
|
fd59A 31 32 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | unc-130 31 32 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2032 31 |
|
ManyToMany | |
-- 31 |
|
ManyToMany | |||
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.311 30 |
|
SNP ID | Clinical significance and condition | Chr 01 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
775557 | Benign: not provided | 63,323,697(+) | C/T | SYNONYMOUS_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
autoimmune disease 1 |
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|
senile entropion |
|
|
vestibular nystagmus |
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charcot-marie-tooth disease, axonal, type 2e |
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|
waardenburg's syndrome |
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