Aliases for FOXC1 Gene
Aliases for FOXC1 Gene
External Ids for FOXC1 Gene
- HGNC: 3800
- Entrez Gene: 2296
- Ensembl: ENSG00000054598
- OMIM: 601090
- UniProtKB: Q12948
Previous HGNC Symbols for FOXC1 Gene
- FKHL7
- IRID1
Previous GeneCards Identifiers for FOXC1 Gene
- GC06P001595
- GC06P001555
- GC06P001480
Summaries for FOXC1 Gene
-
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]
GeneCards Summary for FOXC1 Gene
FOXC1 (Forkhead Box C1) is a Protein Coding gene. Diseases associated with FOXC1 include Anterior Segment Dysgenesis 3 and Axenfeld-Rieger Syndrome, Type 3. Among its related pathways are Transcriptional Regulatory Network in Embryonic Stem Cell and Heart Development. 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.
UniProtKB/Swiss-Prot for FOXC1 Gene
-
DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5-[G/C][A/T]AAA[T/C]AA[A/C]-3 in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5-GTAAACAAA-3 in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).
Additional gene information for FOXC1 Gene
- Monarch Initiative
- Search for FOXC1 at DataMed
- Search for FOXC1 at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FOXC1 Gene
Genomics for FOXC1 Gene
GeneHancer (GH) Regulatory Elements for FOXC1 Gene
Promoters and enhancers for FOXC1 Gene
| GeneHancer (GH) Identifier | GH Type | GH Score |
GH Sources | Gene Association Score | Total Score | TSS distance (kb) | Number of Genes Away | Size (kb) | Transcription Factor Binding Sites |
Gene Targets |
|---|---|---|---|---|---|---|---|---|---|---|
| GH06J001608 | Promoter/Enhancer | 1.9 | FANTOM5 Ensembl ENCODE dbSUPER | 658.8 | +1.8 | 1821 | 5.9 | HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF48 YY1 GLIS2 ZNF213 | FOXC1 GC06P001612 GC06P001611 RN7SL352P FOXQ1 | |
| GH06J001708 | Enhancer | 0.6 | Ensembl ENCODE | 14.3 | +99.2 | 99229 | 0.8 | POLR2A SCRT2 | FOXC1 PIR36904 GC06P001721 GMDS | |
| GH06J001723 | Enhancer | 0.8 | Ensembl ENCODE | 7.9 | +114.8 | 114750 | 1.7 | SOX13 KLF1 DPF2 FOXA1 CTBP1 PRDM6 SCRT2 KLF9 KLF7 ZBTB17 | FOXC1 GC06M001726 GC06P001721 GMDS | |
| GH06J001728 | Enhancer | 0.3 | ENCODE | 5.1 | +119.5 | 119511 | 1 | SCRT2 | GC06M001726 FOXC1 GC06P001781 GMDS | |
| GH06J001607 | Enhancer | 1.1 | ENCODE dbSUPER | 0.7 | -2.3 | -2261 | 0.2 | ELF3 FOXA2 ARNT DMAP1 BMI1 ZNF2 ZNF48 ZSCAN9 YY1 SLC30A9 | FOXCUT FOXC1 |
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around FOXC1 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the FOXC1 gene promoter:
-
- STAT1
- FOXO1a
- FOXO1
- FOXO4
- SRF (504 AA)
- SRF
- Nkx2-5
Regulatory Element Products
Genomic Locations for FOXC1 Gene
Genomic Locations for FOXC1 Gene
- chr6:1,609,972-1,613,897
- (GRCh38/hg38)
- Size:
- 3,926 bases
- Orientation:
- Plus strand
- chr6:1,610,681-1,614,132
- (GRCh37/hg19)
- Size:
- 3,452 bases
- Orientation:
- Plus strand
Genomic View for FOXC1 Gene
Genes around FOXC1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 6p25.3 by Entrez Gene
- 6p25.3 by HGNC
- 6p25.3 by Ensembl
FOXC1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FOXC1 Gene
Proteins for FOXC1 Gene
-
Protein details for FOXC1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q12948-FOXC1_HUMAN
- Recommended name:
- Forkhead box protein C1
- Protein Accession:
- Q12948
- Q86UP7
- Q9BYM1
- Q9NUE5
- Q9UDD0
- Q9UP06
Protein attributes for FOXC1 Gene
- Size:
- 553 amino acids
- Molecular mass:
- 56789 Da
- Quaternary structure:
-
- Monomer. Interacts with C1QBP (PubMed:18676636). Interacts (via N-terminus) with GLI2 (via C-terminal internal region); this interaction is direct and increases GLI2 DNA-binding and transcriptional activity through a smoothened (SMO)-independent Hedgehog (Hh) signaling pathway (PubMed:26565916). Interacts (via C-terminus domain) with PITX2 isoform 3 (via homeobox domain) (PubMed:16449236). Interacts with FLNA and PBX1 (PubMed:15684392).
Protein Expression for FOXC1 Gene
Post-translational modifications for FOXC1 Gene
- Phosphorylated (PubMed:11782474, PubMed:19279310, PubMed:25786029). Phosphorylated on Ser-272 in response to epidermal growth factor (EGF) in a ERK1/2 MAPK-dependent signaling pathway; phosphorylation contributes to its protein stability and transcriptional activity (PubMed:16492674).
- Sumoylated preferentially with SUMO2 or SUMO3 (PubMed:22493429). Desumoylated by SENP2 (PubMed:22493429).
- Ubiquitinated, leading to its proteasomal degradation (PubMed:16492674).
- Modification sites at PhosphoSitePlus
- Modification sites at neXtProt
Other Protein References for FOXC1 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for FOXC1 (FoxC1)
-
Custom Antibody ServicesOriGene Antibodies for FOXC1
- Novus Biologicals Antibodies for FOXC1
-
Abcam antibodies for FOXC1
- Invitrogen Antibodies for FOXC1 (AFLGC-FOXC1)
- GeneTex FOXC1 Antibody for FOXC1
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXC1
Protein Products
-
OriGene Purified Proteins for FOXC1
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXC1
- Origene Custom Protein Services for FOXC1
- Search GeneTex for Proteins for FOXC1
-
Abcam proteins for FOXC1
Assay Products
No data available for DME Specific Peptides for FOXC1 Gene
Domains & Families for FOXC1 Gene
Gene Families for FOXC1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Plasma proteins
- Predicted intracellular proteins
- Transcription factors
Protein Domains for FOXC1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXC1 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
No data available for UniProtKB/Swiss-Prot for FOXC1 Gene
Function for FOXC1 Gene
Molecular function for FOXC1 Gene
- UniProtKB/Swiss-Prot Function:
- DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:15299087, PubMed:15684392, PubMed:16492674, PubMed:27907090, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:16449236, PubMed:17210863, PubMed:19793056, PubMed:19279310, PubMed:25786029, PubMed:27804176). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to the consensus binding site 5-[G/C][A/T]AAA[T/C]AA[A/C]-3 in promoter of target genes (PubMed:7957066, PubMed:11782474, PubMed:12533514, PubMed:14506133, PubMed:19793056, PubMed:27804176). Upon DNA-binding, promotes DNA bending (PubMed:7957066, PubMed:14506133). Acts as a transcriptional coactivator (PubMed:26565916). Stimulates Indian hedgehog (Ihh)-induced target gene expression mediated by the transcription factor GLI2, and hence regulates endochondral ossification (By similarity). Acts also as a transcriptional coregulator by increasing DNA-binding capacity of GLI2 in breast cancer cells (PubMed:26565916). Regulates FOXO1 through binding to a conserved element, 5-GTAAACAAA-3 in its promoter region, implicating FOXC1 as an important regulator of cell viability and resistance to oxidative stress in the eye (PubMed:17993506). Cooperates with transcription factor FOXC2 in regulating expression of genes that maintain podocyte integrity (By similarity). Promotes cell growth inhibition by stopping the cell cycle in the G1 phase through TGFB1-mediated signals (PubMed:12408963). Involved in epithelial-mesenchymal transition (EMT) induction by increasing cell proliferation, migration and invasion (PubMed:20406990, PubMed:22991501). Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). Plays a role in the gene regulatory network essential for epidermal keratinocyte terminal differentiation (PubMed:27907090). Essential developmental transcriptional factor required for mesoderm-derived tissues, such as the somites, skin, bone and cartilage. Positively regulates CXCL12 and stem cell factor expression in bone marrow mesenchymal progenitor cells, and hence plays a role in the development and maintenance of mesenchymal niches for haematopoietic stem and progenitor cells (HSPC). Plays a role in corneal transparency by preventing both blood vessel and lymphatic vessel growth during embryonic development in a VEGF-dependent manner. Involved in chemokine CXCL12-induced endothelial cell migration through the control of CXCR4 expression (By similarity). May function as a tumor suppressor (PubMed:12408963).
- UniProtKB/Swiss-Prot Induction:
- Up-regulated during the progression of epidermal keratinocyte differentiation (at protein level) (PubMed:27907090). Up-regulated upon calcium-mediated keratinocyte differentiation (PubMed:27907090). Up-regulated by transforming growth factor TGFB1 (PubMed:12408963).
- GENATLAS Biochemistry:
- transcription factor-like 7,ubiquitously expressed,with a Drosophila homeo forkhead DNA binding domain homolog,homolog to the murine MF1,disrupted in congenital hydrocephalus
Phenotypes From GWAS Catalog for FOXC1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000977 | RNA polymerase II regulatory region sequence-specific DNA binding | IDA | 7957066 |
| GO:0000981 | RNA polymerase II transcription factor activity, sequence-specific DNA binding | IBA,NAS | 19274049 |
| GO:0001223 | transcription coactivator binding | ISS,IEA | -- |
| GO:0001228 | transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding | IC | -- |
| GO:0003677 | DNA binding | IDA,IEA | 7957066 |
Phenotypes for FOXC1 Gene
- MGI mutant phenotypes for FOXC1:
-
inferred from 5 alleles
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- pigmentation phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- embryo phenotype
- normal phenotype
- renal/urinary system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for FOXC1:
-
- Decreased shRNA abundance (Z-score < -2)
- Increased shRNA abundance (Z-score > 2)
- Decreased viability in esophageal squamous lineage
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Decreased viability with carboplatin
- Decreased viability with paclitaxel
- shRNA abundance <= 50%
- Increased transferrin (TF) endocytosis
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for FOXC1
-
CRISPR Products
-
OriGene CRISPR knockouts for FOXC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXC1
- genomics-online: gRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- Applied Biological Materials CRISPR for FOXC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXC1
- GenScript: Design CRISPR guide RNA sequences for FOXC1
miRNA for FOXC1 Gene
- miRTarBase miRNAs that target FOXC1
-
- hsa-mir-204-5p (MIRT006344)
- hsa-mir-1236-3p (MIRT036256)
- hsa-mir-940 (MIRT036606)
- hsa-mir-877-5p (MIRT037280)
- hsa-mir-193b-3p (MIRT041194)
- hsa-mir-324-5p (MIRT043069)
- hsa-mir-378a-3p (MIRT043933)
- hsa-mir-200b-5p (MIRT099046)
- hsa-mir-125a-3p (MIRT099047)
- hsa-mir-200a-5p (MIRT099048)
- hsa-mir-552-3p (MIRT099050)
- hsa-mir-600 (MIRT099051)
- hsa-mir-5095 (MIRT099054)
- hsa-mir-6809-5p (MIRT099058)
- hsa-mir-6830-5p (MIRT099059)
- hsa-mir-7151-3p (MIRT099060)
- hsa-mir-450a-1-3p (MIRT099063)
- hsa-mir-329-5p (MIRT099064)
- hsa-mir-4464 (MIRT099065)
- hsa-mir-4748 (MIRT099066)
- hsa-mir-211-5p (MIRT099067)
- hsa-mir-623 (MIRT099069)
- hsa-mir-4446-5p (MIRT099072)
- hsa-mir-4755-5p (MIRT099073)
- hsa-mir-5006-3p (MIRT099074)
- hsa-mir-6832-3p (MIRT099075)
- hsa-mir-219a-5p (MIRT099110)
- hsa-mir-3607-3p (MIRT099112)
- hsa-mir-4646-3p (MIRT099113)
- hsa-mir-4782-3p (MIRT099114)
- hsa-mir-6766-3p (MIRT099115)
- hsa-mir-17-5p (MIRT257278)
- hsa-mir-20a-5p (MIRT257279)
- hsa-mir-93-5p (MIRT257280)
- hsa-mir-106a-5p (MIRT257281)
- hsa-mir-223-5p (MIRT257282)
- hsa-mir-106b-5p (MIRT257283)
- hsa-mir-302b-5p (MIRT257285)
- hsa-mir-302d-5p (MIRT257286)
- hsa-mir-20b-5p (MIRT257287)
- hsa-mir-526b-3p (MIRT257288)
- hsa-mir-519d-3p (MIRT257289)
- hsa-mir-500a-5p (MIRT257290)
- hsa-mir-501-5p (MIRT257291)
- hsa-mir-3609 (MIRT257295)
- hsa-mir-548ah-5p (MIRT257297)
- hsa-mir-4796-3p (MIRT257298)
- hsa-mir-374a-5p (MIRT260591)
- hsa-mir-374b-5p (MIRT260596)
- hsa-mir-4792 (MIRT316740)
- hsa-mir-31-5p (MIRT316765)
- hsa-mir-605-3p (MIRT316766)
- hsa-mir-3175 (MIRT316768)
- hsa-mir-3185 (MIRT316769)
- hsa-mir-6758-5p (MIRT316771)
- hsa-mir-6856-5p (MIRT316772)
- hsa-mir-561-3p (MIRT316774)
- hsa-mir-548e-5p (MIRT316775)
- hsa-mir-4742-5p (MIRT316776)
- hsa-mir-548at-5p (MIRT316777)
- hsa-mir-6835-3p (MIRT316778)
- hsa-mir-32-3p (MIRT316786)
- hsa-mir-4477a (MIRT316787)
- hsa-mir-4790-3p (MIRT316788)
- hsa-mir-639 (MIRT438413)
- hsa-mir-139-3p (MIRT454701)
- hsa-mir-483-5p (MIRT454702)
- hsa-mir-7106-5p (MIRT483136)
- hsa-mir-6739-5p (MIRT483137)
- hsa-mir-6733-5p (MIRT483138)
- hsa-mir-3153 (MIRT483139)
- hsa-mir-765 (MIRT483140)
- hsa-mir-6783-5p (MIRT483141)
- hsa-mir-4779 (MIRT483142)
- hsa-mir-6516-5p (MIRT540046)
- hsa-mir-302c-5p (MIRT540047)
- hsa-mir-5047 (MIRT540048)
- hsa-mir-1301-3p (MIRT540049)
- hsa-mir-7156-3p (MIRT540050)
- hsa-mir-107 (MIRT540051)
- hsa-mir-103a-3p (MIRT540052)
- hsa-mir-4439 (MIRT548178)
- hsa-mir-943 (MIRT548179)
- hsa-mir-3136-5p (MIRT548180)
- hsa-mir-6857-3p (MIRT548181)
- hsa-mir-4513 (MIRT548182)
- hsa-mir-6855-3p (MIRT548183)
- hsa-mir-4433b-5p (MIRT557833)
- hsa-mir-6895-5p (MIRT557834)
- hsa-mir-6715b-3p (MIRT567508)
- hsa-mir-6758-3p (MIRT567509)
- hsa-mir-5688 (MIRT567510)
- hsa-mir-495-3p (MIRT567511)
- hsa-mir-6513-5p (MIRT567512)
- hsa-mir-887-5p (MIRT567513)
- hsa-mir-3913-5p (MIRT567514)
- hsa-mir-3122 (MIRT567515)
- hsa-mir-8059 (MIRT567516)
- hsa-mir-4471 (MIRT567517)
- hsa-mir-1292-5p (MIRT567518)
- hsa-mir-4692 (MIRT567519)
- hsa-mir-4514 (MIRT567520)
- hsa-mir-6715b-5p (MIRT567521)
- hsa-mir-4269 (MIRT567522)
- hsa-mir-138-5p (MIRT731845)
- hsa-mir-133b (MIRT734543)
Transcription Factor Targets for FOXC1 Gene
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXC1
- Browse OriGene Inhibitory RNA Products For FOXC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXC1
- genomics-online: shRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for FOXC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXC1
- Applied Biological Materials Clones for FOXC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for FOXC1
No data available for Enzyme Numbers (IUBMB) and HOMER Transcription for FOXC1 Gene
Localization for FOXC1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FOXC1 Gene
- Nucleus. Note=Colocalizes with PITX2 isoform 3 in the nucleus at subnuclear chromatine regions (PubMed:16449236). Colocalizes with CBX5 to a heterochromatin-rich region of the nucleus (PubMed:15684392). Colocalizes with GLI2 in the nucleus (By similarity). {ECO:0000250 UniProtKB:Q61572, ECO:0000269 PubMed:15684392, ECO:0000269 PubMed:16449236}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| extracellular | 1 |
| cytoskeleton | 1 |
- Nucleoplasm (3)
- Cytosol (1)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA,IDA | 11179011 |
| GO:0005654 | nucleoplasm | IDA | -- |
| GO:0005720 | nuclear heterochromatin | IDA | 15684392 |
| GO:0005829 | cytosol | IDA | -- |
Pathways & Interactions for FOXC1 Gene
Pathways by source for FOXC1 Gene
2 BioSystems pathways for FOXC1 Gene
1 Qiagen pathway for FOXC1 Gene
Interacting Proteins for FOXC1 Gene
Selected Interacting proteins:
ENSP00000370256
Q12948-FOXC1_HUMAN
for FOXC1 Gene via
STRING
UniProtKB
IID
GPS-Prot Interaction Network for FOXC1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000122 | negative regulation of transcription by RNA polymerase II | ISS | -- |
| GO:0001501 | skeletal system development | IEA | -- |
| GO:0001503 | ossification | IEA | -- |
| GO:0001525 | angiogenesis | IEA | -- |
| GO:0001541 | ovarian follicle development | IEA | -- |
Transcripts for FOXC1 Gene
mRNA/cDNA for FOXC1 Gene
- (1) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (118) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000380874 3926 bps (uc003mtp.4)
- ENST00000645831 3831 bps
CRISPR Products
-
OriGene CRISPR knockouts for FOXC1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXC1
- genomics-online: gRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- Applied Biological Materials CRISPR for FOXC1
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXC1
- GenScript: Design CRISPR guide RNA sequences for FOXC1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXC1
- Browse OriGene Inhibitory RNA Products For FOXC1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXC1
- genomics-online: shRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
Clone Products
- Sino Biological Human cDNA Clone for FOXC1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXC1
- Applied Biological Materials Clones for FOXC1
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Expression for FOXC1 Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Neural Crest (Gastrulation Derivatives)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Cranial Neural Crest Cells Branchial Arch 1
- Cardiac Neural Crest Cells Cardiac Neural Crest
- PureStem 4D20.8, NCr-fac Progenitor
- PureStem MEL2, NCr-fac Progenitor
-
Heart (Cardiovascular System)
- Endocardial Tube Cells Endocardium
- Cushion Mesenchymal Cells Endocardium
- Endocardial Cells Endocardium
-
Kidney (Urinary System)
- Ureteric Bud Cells Ureteric Bud
- Metanephric Mesenchyme Cells Metanephric Mesenchyme
-
Head Mesenchyme (Muscoskeletal System)
- Cardiac Neural Crest Cells Branchial Arch 3,4,6
- Cranial Neural Crest Cells Branchial Arch 1
-
Endothelium (Cardiovascular System)
- Periocular Mesenchymal Cells Periocular Mesenchyme
- Angioblasts Embryonic Blood Islands
- Hair (Integumentary System)
-
Brain (Nervous System)
- Meningeal Progenitor Cells Anterior Meninges
- Meningeal Cells Anterior Meninges
-
Lateral Plate Mesoderm (Gastrulation Derivatives)
- Angioblasts Embryonic Blood Islands
- PureStem E15, Meso-prx/latp Progenitor
-
Skeletal Muscle (Muscoskeletal System)
- Muscle Progenitor Cells Extraocular Muscles
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Mesoderm (Gastrulation Derivatives)
- Adipose (Muscoskeletal System)
-
Eye (Sensory Organs)
- Periocular Mesenchymal Cells Periocular Mesenchyme
-
Somite (Muscoskeletal System)
- Muscle Progenitor Cells Thoracic Ventrolateral Dermomyotome Lip
- Paraxial Mesoderm (Gastrulation Derivatives)
- Epidermis (Integumentary System)
- Bone (Muscoskeletal System)
- Cartilage (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for FOXC1 Gene
This gene is overexpressed in Artery - Tibial (x9.2), Artery - Aorta (x8.8), and Artery - Coronary (x5.1).
This gene is overexpressed in Pancreas (69.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOXC1 Gene
NURSA nuclear receptor signaling pathways regulating expression of FOXC1 Gene:
FOXC1SOURCE GeneReport for Unigene cluster for FOXC1 Gene:
Hs.348883mRNA Expression by UniProt/SwissProt for FOXC1 Gene:
Q12948-FOXC1_HUMAN
Tissue specificity:
Expressed in keratinocytes of epidermis and hair follicle (PubMed:27907090). Expressed strongly in microvascular invasion (MVI) formation, basal-like breast cancer (BLBC) and hepatocellular tumors (PubMed:20406990, PubMed:22991501). Expressed in breast cancers (at protein level) (PubMed:26565916). Expressed in hematopoietic cells (PubMed:8499623).
Evidence on tissue expression from TISSUES for FOXC1 Gene
- Heart(3.9)
- Stomach(3.7)
- Nervous system(3.7)
- Muscle(3.5)
- Kidney(3.3)
- Intestine(3)
- Liver(2.9)
- Eye(2.3)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXC1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- reproductive
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cheek
- cranial nerve
- ear
- eye
- eyelid
- face
- forehead
- head
- jaw
- lip
- mandible
- maxilla
- meninges
- mouth
- nose
- pituitary gland
- skull
- tooth
Thorax:
- heart
- heart valve
Abdomen:
- abdominal wall
- intestine
- large intestine
Pelvis:
- anus
- penis
- rectum
- testicle
- urethra
General:
- blood
- blood vessel
- hair
- peripheral nervous system
- skin
Primer Products
-
OriGene qPCR primer pairs for FOXC1
- genomics-online: primer clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
Gene Expression Assay Products
Orthologs for FOXC1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | FOXC1 33 |
|
||
| mouse (Mus musculus) |
Mammalia | Foxc1 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Foxc1 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | FOXC1 34 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | FOXI3 34 |
|
ManyToMany | |
| cow (Bos Taurus) |
Mammalia | -- 34 |
|
ManyToMany | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | foxc1 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | xfd-11 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | foxc1a 34 33 33 |
|
ManyToMany | |
| rainbow trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.10228 33 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | fd64A 35 |
|
|
|
| fd96Cb 35 |
|
|
|||
| croc 34 35 |
|
OneToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
ManyToMany |
- Species where no ortholog for FOXC1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African malaria mosquito (Anopheles gambiae)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- chicken (Gallus gallus)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- lizard (Anolis carolinensis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- platypus (Ornithorhynchus anatinus)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for FOXC1 Gene
- ENSEMBL:
- Gene Tree for FOXC1 (if available)
- TreeFam:
- Gene Tree for FOXC1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXC1: view image
Paralogs for FOXC1 Gene
Paralogs for FOXC1 Gene
(20) SIMAP similar genes for FOXC1 Gene using alignment to 3 proteins:
- FOXC1_HUMAN
- A3KPE3_HUMAN
- C6KMR8_HUMAN
Variants for FOXC1 Gene
| SNP ID | Clin | Chr 06 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs104893951 | pathogenic, Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis 3 (ASGD3) [MIM:601631], Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] | 1,610,780(+) | T/A/C | coding_sequence_variant, missense_variant | |
| rs104893952 | pathogenic, Axenfeld-Rieger syndrome type 3 | 1,610,512(+) | C/G/T | coding_sequence_variant, missense_variant, stop_gained | |
| rs104893953 | pathogenic, Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] | 1,610,690(+) | G/C | coding_sequence_variant, missense_variant | |
| rs104893954 | pathogenic, Anterior segment dysgenesis 3, Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] | 1,610,706(+) | C/G | coding_sequence_variant, missense_variant | |
| rs104893957 | pathogenic, Anterior segment dysgenesis 3, Anterior segment dysgenesis 3 (ASGD3) [MIM:601631], Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482] | 1,610,837(+) | C/T | coding_sequence_variant, 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 |
Gene Damage Index Score:
7.63;
82.73% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXC1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXC1 Gene
Disorders for FOXC1 Gene
(31) MalaCards diseases for FOXC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| anterior segment dysgenesis 3 |
|
|
| axenfeld-rieger syndrome, type 3 |
|
|
| axenfeld-rieger syndrome |
|
|
| isolated aniridia |
|
|
| peters-plus syndrome |
|
Search FOXC1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FOXC1_HUMAN- Axenfeld-Rieger syndrome 3 (RIEG3) [MIM:602482]: An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome. {ECO:0000269 PubMed:11170889, ECO:0000269 PubMed:11179011, ECO:0000269 PubMed:11589884, ECO:0000269 PubMed:11740218, ECO:0000269 PubMed:12454026, ECO:0000269 PubMed:12592227, ECO:0000269 PubMed:14506133, ECO:0000269 PubMed:14578375, ECO:0000269 PubMed:15277473, ECO:0000269 PubMed:15477465, ECO:0000269 PubMed:16449236, ECO:0000269 PubMed:16936096, ECO:0000269 PubMed:17210863, ECO:0000269 PubMed:17653043, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:23239455, ECO:0000269 PubMed:24914578, ECO:0000269 PubMed:25786029, ECO:0000269 PubMed:27804176, ECO:0000269 PubMed:9792859}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Anterior segment dysgenesis 3 (ASGD3) [MIM:601631]: A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant. {ECO:0000269 PubMed:12614756, ECO:0000269 PubMed:18484311, ECO:0000269 PubMed:19279310, ECO:0000269 PubMed:19793056, ECO:0000269 PubMed:20881294, ECO:0000269 PubMed:9620769}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FOXC1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for FOXC1 Gene
Publications for FOXC1 Gene
- Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations. (PMID: 20881294) D'haene B … De Baere E (Investigative ophthalmology & visual science 2011) 3 4 44 58
- FOXC1 is a potential prognostic biomarker with functional significance in basal-like breast cancer. (PMID: 20406990) Ray PS … Cui X (Cancer research 2010) 3 4 22 58
- Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. (PMID: 19279310) Ito YA … Walter MA (Investigative ophthalmology & visual science 2009) 3 4 22 58
- Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomalies. (PMID: 19626132) Kaur K … Ragoussis J (Molecular vision 2009) 3 22 44 58
- Characterization of a novel FOXC1 mutation, P297S, identified in two individuals with anterior segment dysgenesis. (PMID: 19793056) Fetterman CD … Walter MA (Clinical genetics 2009) 3 4 22 58
Products for FOXC1 Gene
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- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
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- Novus Biologicals lysates and proteins for FOXC1
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for FOXC1
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- Invitrogen Antibodies for FOXC1 (AFLGC-FOXC1)
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- antibodies-online: Search results for 92 available FOXC1 Antibodies ranked by validation data
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- antibodies-online: Search results for 21 available FOXC1 Elisa Kits ranked by validation data
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- antibodies-online: Search results for 5 available FOXC1 Proteins ranked by validation data
- Compare Top FOXC1 Proteins
- GeneTex FOXC1 Antibody for FOXC1
- Search GeneTex for Proteins for FOXC1
- Santa Cruz Biotechnology (SCBT) Antibodies for FOXC1
- Search Santa Cruz Biotechnology (SCBT) for FOXC1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FOXC1
- Horizon Cell Lines for FOXC1
- genomics-online: cdna clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- orf clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- genomics-online: gRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- genomics-online: primer clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- genomics-online: shRNA clones - Search results for 61 available FOXC1 gene related products
- Overview of 61 available FOXC1 gene related products
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXC1
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- GeneCopoeia miRNA 3'UTR Target clone products for FOXC1
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Sources for FOXC1 Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt