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This locus encodes a member of the forked-head transcription factor family. The encoded protein, which functions as a repressor, may play a role in brain development. Mutations at this locus have been associated with Rett syndrome. [provided by RefSeq, Feb 2012]
FOXG1 (Forkhead Box G1) is a Protein Coding gene. Diseases associated with FOXG1 include Rett Syndrome, Congenital Variant and Foxg1 Syndrome. Among its related pathways are FoxO signaling pathway and DNA Damage/Telomere Stress Induced Senescence. 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 FOXF2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | ISM | 19274049 |
GO:0003677 | DNA binding | TAS | 7957066 |
GO:0003700 | DNA-binding transcription factor activity | IEA | -- |
GO:0005515 | protein binding | IPI | 12657635 |
GO:0043565 | sequence-specific DNA binding | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IEA | -- |
GO:0005654 | nucleoplasm | TAS | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | FoxO signaling pathway | ||
2 | DNA Damage/Telomere Stress Induced Senescence |
Signal transduction Activin A signaling regulation
.38
|
|
3 | Regulation of nuclear SMAD2/3 signaling | ||
4 | Tgif disruption of Shh signaling |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA | -- |
GO:0002052 | positive regulation of neuroblast proliferation | IEA | -- |
GO:0006355 | regulation of transcription, DNA-templated | IEA | -- |
GO:0007275 | multicellular organism development | IEA | -- |
GO:0007346 | regulation of mitotic cell cycle | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Dog (Canis familiaris) |
Mammalia | FOXG1 31 |
|
OneToOne | |
Chimpanzee (Pan troglodytes) |
Mammalia | FOXG1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FOXG1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Foxg1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxg1 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | FOXG1 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FOXG1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FOXG1 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FOXG1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxg1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | foxg1b-A-prov 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxg1a 30 31 |
|
OneToOne | |
foxg1 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | slp1 31 |
|
OneToMany | |
slp2 31 |
|
OneToMany | |||
fd19B 31 |
|
OneToMany | |||
Worm (Caenorhabditis elegans) |
Secernentea | fkh-2 31 |
|
OneToOne | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 14 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
639140 | Likely Benign: Rett syndrome, congenital variant | 28,767,708(+) | C/CGAGAAG | INFRAME_INSERTION | |
650501 | Likely Benign: Rett syndrome, congenital variant | 28,767,626(+) | T/C | MISSENSE_VARIANT | |
650891 | Uncertain Significance: Rett syndrome, congenital variant | 28,767,426(+) | CCACCACCACCACCAT | INFRAME_DELETION | |
651047 | Uncertain Significance: Rett syndrome, congenital variant | 28,767,593(+) | CGCCG/AGCCGCCGCC | INFRAME_INSERTION | |
651666 | Pathogenic: Rett syndrome, congenital variant | 28,768,041(+) | C/A | NONSENSE |
Disorder | Aliases | PubMed IDs |
---|---|---|
rett syndrome, congenital variant |
|
|
foxg1 syndrome |
|
|
optic nerve disease |
|
|
strabismus |
|
|
14q12 microdeletion syndrome |
|
|