Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2296
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box C1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXC1
Synonyms (NCBI Gene) Gene synonyms aliases
ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p25.3
Summary Summary of gene provided in NCBI Entrez 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 regulatio
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs35717904 A>T Pathogenic 3 prime UTR variant
rs77888940 C>A,G,T Pathogenic 5 prime UTR variant
rs79691946 C>T Benign, pathogenic Coding sequence variant, missense variant
rs104893951 T>A,C Pathogenic Coding sequence variant, missense variant
rs104893952 C>G,T Pathogenic Coding sequence variant, missense variant, stop gained
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT006344 hsa-miR-204-5p Luciferase reporter assay, Western blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assay, Western blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assay, Western blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assay, Western blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assay, Western blot 21400511
Transcription factors
Transcription factor Regulation Reference
BRCA1 Repression 22120723
EZH2 Repression 21465172
GATA3 Repression 22120723
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0000122 Process Negative regulation of transcription by RNA polymerase II ISS
GO:0000785 Component Chromatin ISA
GO:0000792 Component Heterochromatin IDA 15684392
GO:0000976 Function Transcription cis-regulatory region binding IDA 17210863, 19279310, 25786029, 27804176
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
601090 3800 ENSG00000054598
Protein
UniProt ID Q12948
Protein name Forkhead box protein C1 (Forkhead-related protein FKHL7) (Forkhead-related transcription factor 3) (FREAC-3)
Protein 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:14506133, PubMed:14578375, PubMed:15277473, Pu
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 77 163 Forkhead domain Domain
Tissue specificity 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). Ex
Sequence
MQARYSVSSPNSLGVVPYLGGEQSYYRAAAAAAGGGYTAMPAPMSVYSHPAHAEQYPGGM
ARAYGPYTPQPQPKDMVKPPYSYIALITMAIQNAPDKKITLNGIYQFIMDRFPFYRDNKQ
GWQNSIRHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFE
NGSFLRRRRRFKKKDAV
KDKEEKDRLHLKEPPPPGRQPPPAPPEQADGNAPGPQPPPVRIQDIKTENGTCPSPPQPL
SPAAALGSGSAAAVPKIESPDSSSSSLSSGSSPPGSLPSARPLSLDGADSAPPPPAPSAP
PPHHSQGFSVDNIMTSLRGSPQSAAAELSSGLLASAAASSRAGIAPPLALGAYSPGQSSL
YSSPCSQTSSAGSSGGGGGGAGAAGGAGGAGTYHCNLQAMSLYAAGERGGHLQGAPGGAG
GSAVDDPLPDYSLPPVTSSSSSSLSHGGGGGGGGGGQEAGHHPAAHQGRLTSWYLNQAGG
DLGHLASAAAAAAAAGYPGQQQNFHSVREMFESQRIGLNNSPVNGNSSCQMAFPSSQSLY
RTSGAFVYDCSKF
Sequence length 553
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Anterior segment dysgenesis Anterior segment dysgenesis 3 rs2113111009, rs104893957, rs104893958, rs1057519477, rs1554100953, rs104893954, rs1057519480 N/A
Axenfeld anomaly Axenfeld-Rieger syndrome type 3 rs376405759, rs1057519482, rs886039568, rs760676014, rs1581373890, rs1057519471, rs1085307884, rs1581373773, rs104893957, rs1057519472, rs368260972, rs1762521548, rs1057519475, rs1554101000, rs1762522833
View all (16 more)
N/A
anterior segment dysgenesis Anterior segment dysgenesis rs1183655796 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Aniridia isolated aniridia N/A N/A GenCC
Coronary artery disease Coronary artery disease N/A N/A GWAS
Hypertension Essential hypertension (time to event), Hypertension (confirmatory factor analysis Factor 12), High blood pressure / hypertension N/A N/A GWAS
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 37679021
Alzheimer Disease Associate 31377428, 37848007
Aniridia Associate 21423868, 27124303
Aniridia cerebellar ataxia mental deficiency Associate 27124303
Anterior segment mesenchymal dysgenesis Associate 17653043, 22569110, 27463523, 32224865
Aortic Valve Stenosis Associate 17653043
Arthritis Rheumatoid Associate 35946462, 40238799
Atherosclerosis Associate 35842645
Autistic Disorder Associate 32499604
Axenfeld Rieger Anomaly with Partially Absent Eye Muscles Distinctive Face Hydrocephaly and Skeletal Abnormalities Associate 22569110, 35882526