FOXC1 - forkhead box C1 Gene
Also Known as ARA; IGDA; IHG1; ASGD3; FKHL7; IRID1; RIEG3; FREAC3; FREAC-3
Species: Homo sapiens
About FOXC1
This gene has 1 transcript (splice variant), 224 orthologues, 42 paralogues and is associated with 9 phenotypes.
Summary
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 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_001453.3 | NP_001444.2 | forkhead box protein C1 |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in heterochromatin |
IDA
IDA: Inferred from direct assay
|
15684392 | GOA |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
11179011 | GOA |
FOXC1 Protein Structure
Forkhead: Forkhead domain (78 - 173)
- 0
- 100
- 200
- 300
- 400
- 500
- 553 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
forkhead box protein C1 |
|
FOXC1 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
FOXC1 | Q12948 | PITX2 | Homo sapiens | Q99697-3 | 16449236 | |
|
Intra
|
FOXC1 | Q12948 | PITX2 | Homo sapiens | Q99697-3 | 16449236 | |
|
Intra
|
FOXC1 | Q12948 | PITX2 | Homo sapiens | Q99697-3 | 16449236 | |
|
Intra
|
FOXC1 | Q12948 | PBX1 | Homo sapiens | P40424 | 15684392 | |
|
Intra
|
FOXC1 | Q12948 | PBX1 | Homo sapiens | P40424 | 25609649 | |
|
Intra
|
FOXC1 | Q12948 | PBX1 | Homo sapiens | P40424 | 15684392 | |
|
Intra
|
FOXC1 | Q12948 | C1QBP | Homo sapiens | Q07021 | 18676636 | |
|
Intra
|
FOXC1 | Q12948 | C1QBP | Homo sapiens | Q07021 | 18676636 | |
|
Intra
|
FOXC1 | Q12948 | C1QBP | Homo sapiens | Q07021 | 18676636 | |
|
Intra
|
FOXC1 | Q12948 | FLNA | Homo sapiens | P21333 | 15684392 | |
|
Intra
|
FOXC1 | Q12948 | FLNA | Homo sapiens | P21333 | 15684392 | |
|
Intra
|
FOXC1 | Q12948 | FLNA | Homo sapiens | P21333 | 15684392 |
FOXC1 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P81359 | FOXC1 Antibody (YA1104) | IHC-P | Human |
| HY-P81359A | FOXC1 Antibody (YA1104)(PBS only) | IHC-P | Human |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Anterior Segment Dysgenesis 3 |
|
|
| Axenfeld-Rieger Syndrome, Type 3 |
|
|
| Isolated Aniridia |
|
|
| Axenfeld-Rieger Syndrome |
|
|
| Anterior Segment Dysgenesis |
|
|
| Anterior Segment Dysgenesis 1 |
|
|
| Juvenile Glaucoma |
|
|
| Peters-Plus Syndrome |
|
|
| Hypertelorism And Tetralogy Of Fallot |
|
|
| Primary Congenital Glaucoma |
|
|
| Cakut |
|
|
| Open-Angle Glaucoma |
|
|
| Glaucoma 3, Primary Congenital, A |
|
|
| Hydrocephalus |
|
|
| Intraocular Pressure Quantitative Trait Locus |
|
|
| Aniridia 1 |
|
|
| Congenital Hydrocephalus |
|
|
| Syngnathia |
|
|
| Distichiasis |
|
|
| Hydrophthalmos |
|
|
| Iris Disease |
|
|
| Keratitis, Hereditary |
|
|
| Miliaria Profunda |
|
|
| Gillespie Syndrome |
|
|
| Atrial Heart Septal Defect |
|
|
| Sclerocornea |
|
|
| Lymphedema-Distichiasis Syndrome |
|
|
| Intestinal Atresia |
|
|
| Primary Lymphedema |
|
|
| Breast Cancer |
|
|
| Megalocornea |
|
|
| Miliaria Crystallina |
|
|
| Ring Dermoid Of Cornea |
|
|
| Otopalatodigital Syndrome, Type Ii |
|
|
| Eye Disease |
|
|
| Persistent Hyperplastic Primary Vitreous |
|
|
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
|
| Excessive Tearing |
|
|
| Brachydactyly |
|
|
| Glaucoma, Primary Open Angle |
|
|
| Dandy-Walker Syndrome |
|
|
| Hypertelorism |
|
|
| Glaucoma, Normal Tension |
|
|
| Cataract |
|
|
| Steroid-Induced Glaucoma |
|
|
| Acquired Color Blindness |
|
|
| Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2 |
|
|
| Corneal Disease |
|
|
| Coloboma Of Macula |
|
|
| Lens Disease |
|
|
| Heart Disease |
|
|
| Tooth Agenesis |
|
|
| Microcephaly |
|
|
| Vesicoureteral Reflux |
|
|
| Patent Ductus Arteriosus 1 |
|
|
| Congenital Nervous System Abnormality |
|
|
| Retinitis Pigmentosa |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | FOXC1 | RGD | RGD:1589718 |
| Mus musculus | FOXC1 | MGD | MGI:1347466 |
| Macaca mulatta | FOXC1 | VGNC | VGNC:72693 |
| Others | FOXC1 | NCBI |