Gene Gene information from NCBI Gene database.
Entrez ID 2296
Gene name Forkhead box C1
Gene symbol FOXC1
Synonyms (NCBI Gene)
ARAASGD3FKHL7FREAC-3FREAC3IGDAIHG1IRID1RIEG3
Chromosome 6
Chromosome location 6p25.3
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 regulatio
SNPs SNP information provided by dbSNP.
47
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.
844
miRTarBase ID miRNA Experiments Reference
MIRT006344 hsa-miR-204-5p Luciferase reporter assayWestern blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assayWestern blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assayWestern blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assayWestern blot 21400511
MIRT006344 hsa-miR-204-5p Luciferase reporter assayWestern blot 21400511
Transcription factors Transcription factors information provided by TRRUST V2 database.
3
Transcription factor Regulation Reference
BRCA1 Repression 22120723
EZH2 Repression 21465172
GATA3 Repression 22120723
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
119
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601090 3800 ENSG00000054598
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
628
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Anterior segment dysgenesis Likely pathogenic; Pathogenic rs1183655796, rs1762526126, rs1762526692, rs1297907614 RCV001200025
RCV001200042
RCV001200026
RCV001200031
Anterior segment dysgenesis 3 Likely pathogenic; Pathogenic rs372857241, rs2113111766, rs2113111662, rs2480505189, rs2113111009, rs104893957, rs104893958, rs104893954, rs2480502500, rs1554100945, rs1057519477, rs1057519480, rs1554100953, rs1762550387 RCV005031595
RCV001808295
RCV002249992
RCV004796723
RCV000008967
RCV000008968
RCV000008969
RCV000008979
RCV005036769
RCV004556158
RCV002272227
RCV004594054
RCV000585805
RCV001281365
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities Pathogenic; Likely pathogenic rs2471744858, rs2480505189 RCV002291339
RCV002291341
Axenfeld-Rieger syndrome type 3 Pathogenic; Likely pathogenic rs1762549789, rs2113110720, rs2113110795, rs2113111289, rs2113112422, rs372857241, rs1183655796, rs376405759, rs2113111355, rs562467758, rs2113112720, rs2113111322, rs1408057194, rs867581817, rs2113111101
View all (73 more)
RCV002293582
RCV001383808
RCV001386059
RCV001384841
RCV001390991
RCV000700281
RCV001843374
RCV001650517
RCV001966069
RCV002006657
RCV002002561
RCV002031799
RCV001956299
RCV002250999
RCV002251078
RCV002293572
RCV002293573
RCV002293574
RCV002293575
RCV002293576
RCV002293577
RCV002293578
RCV002293579
RCV002293580
RCV002293583
RCV002293584
RCV002293585
RCV002293586
RCV002293587
RCV002293588
RCV002293589
RCV002293590
RCV002272605
RCV004796723
RCV002828308
RCV002810606
RCV002835257
RCV002816555
RCV002846278
RCV002870799
RCV002861448
RCV002863239
RCV002867568
RCV002923450
RCV003509480
RCV000008971
RCV000008973
RCV000008978
RCV000008981
RCV002293431
RCV000416497
RCV003332930
RCV003389575
RCV003389576
RCV005036769
RCV003510630
RCV003510480
RCV003510778
RCV003510032
RCV003510026
RCV003621066
RCV003621187
RCV003621350
RCV003621451
RCV004556155
RCV000416515
RCV000416537
RCV000416495
RCV000416505
RCV000416521
RCV000416550
RCV000416504
RCV000416528
RCV000416548
RCV000532837
RCV000495841
RCV003619688
RCV000585863
RCV000646226
RCV000646228
RCV000646224
RCV000691768
RCV000817211
RCV000824988
RCV001067954
RCV001064648
RCV001063142
RCV001049764
RCV001062756
RCV001171547
RCV001198073
RCV001859212
RCV001213979
RCV001281365
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Alopecia, androgenetic, 1 Uncertain significance rs2113114864 RCV002251310
See cases Uncertain significance rs2113111593 RCV002252819
Structural eye disease Conflicting classifications of pathogenicity rs2113111795 RCV006262006
Associations from Text MiningDisease 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