Free for academic non-profit institutions. Other users need a Commercial license
This gene belongs to the forkhead family of transcription factors which is characterized by a distinct DNA-binding forkhead domain. The specific function of this gene has not yet been determined; however, it has been shown to play a role in the regulation of embryonic and ocular development. Mutations in this gene cause various glaucoma phenotypes including primary congenital glaucoma, autosomal dominant iridogoniodysgenesis anomaly, and Axenfeld-Rieger anomaly. [provided by RefSeq, Jul 2008]
FOXC1 (Forkhead Box C1) is a Protein Coding gene. Diseases associated with FOXC1 include Axenfeld-Rieger Syndrome, Type 3 and Anterior Segment Dysgenesis 3. Among its related pathways are Heart Development and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor binding. An important paralog of this gene is FOXC2.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000976 | transcription regulatory region sequence-specific DNA binding | IDA, ISS | -- |
GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 7957066 |
GO:0000981 | DNA-binding transcription factor activity, RNA polymerase II-specific | IEA,ISM | 19274049 |
GO:0001223 | transcription coactivator binding | IEA,ISS | -- |
GO:0001228 | DNA-binding transcription activator activity, RNA polymerase II-specific | IDA | 17993506 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000790 | nuclear chromatin | ISA | -- |
GO:0005634 | nucleus | IBA,IDA | 11179011 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005720 | nuclear heterochromatin | IDA | 15684392 |
GO:0005829 | cytosol | IDA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcriptional Regulatory Network in Embryonic Stem Cell |
Transcriptional Regulatory Network in Embryonic Stem Cell
-
|
|
2 | Heart Development | ||
3 | Mesodermal Commitment Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000122 | negative regulation of transcription by RNA polymerase II | IEA,ISS | -- |
GO:0001501 | skeletal system development | IEA | -- |
GO:0001503 | ossification | IEA | -- |
GO:0001525 | angiogenesis | IEA | -- |
GO:0001541 | ovarian follicle development | IEA | -- |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FOXC1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Foxc1 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Foxc1 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FOXC1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FOXI3 31 |
|
ManyToMany | |
Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxc1 30 |
|
||
African clawed frog (Xenopus laevis) |
Amphibia | xfd-11 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | foxc1a 30 30 31 |
|
ManyToMany | |
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10228 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | fd64A 32 |
|
|
|
fd96Cb 32 |
|
|
|||
croc 31 32 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
ManyToMany |
SNP ID | Clinical significance and condition | Chr 06 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
568112 | Pathogenic: Axenfeld-Rieger syndrome type 3 | 1,610,445(+) | CATGCAGGCGCGCTAC | INITIATIOR_CODON_VARIANT,FRAMESHIFT_VARIANT | |
640532 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,789(+) | A/G | MISSENSE_VARIANT | |
651309 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,931(+) | C/G | MISSENSE_VARIANT | |
660083 | Uncertain Significance: Axenfeld-Rieger syndrome type 3 | 1,610,953(+) | C/T | MISSENSE_VARIANT | |
666565 | Likely Pathogenic: Axenfeld-Rieger syndrome type 3 | 1,610,806(+) | G/A | MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv992n67 | CNV | gain | 20364138 |
nsv1016859 | CNV | gain | 25217958 |
nsv1073530 | CNV | deletion | 25765185 |
nsv1073531 | CNV | deletion | 25765185 |
nsv1119067 | CNV | deletion | 24896259 |
nsv1119068 | CNV | deletion | 24896259 |
nsv600807 | CNV | loss | 21841781 |
nsv823397 | CNV | gain | 20364138 |
nsv823399 | CNV | gain | 20364138 |
nsv823400 | CNV | gain | 20364138 |
Disorder | Aliases | PubMed IDs |
---|---|---|
axenfeld-rieger syndrome, type 3 |
|
|
anterior segment dysgenesis 3 |
|
|
axenfeld-rieger syndrome |
|
|
isolated aniridia |
|
|
peters-plus syndrome |
|