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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
36
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Anterior segment dysgenesis Likely pathogenic; Pathogenic rs1183655796, rs1762526126, rs1762526692, rs1297907614 RCV001200025
RCV001200042
RCV001200026
RCV001200031
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (9 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities Pathogenic; Likely pathogenic rs2471744858, rs2480505189 RCV002291339
RCV002291341
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
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
View all (89 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Alopecia, androgenetic, 1 Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANIRIDIA Disgenet, GWAS catalog
Disgenet, GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANIRIDIA TYPE 1 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 29137406
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 30548656
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 25043849
★☆☆☆☆
Found in Text Mining only
AL-RAQAD SYNDROME AL-Raqad Syndrome BEFREE 10713890, 17653043, 22569110, 23239455, 23687430, 24556684, 27804176, 28226328, 28575017, 29100920, 30457409, 30684501, 31410177
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31377428, 37848007 Associate
★☆☆☆☆
Found in Text Mining only
Anaplasia Anaplasia BEFREE 25008184
★☆☆☆☆
Found in Text Mining only
Aniridia Aniridia BEFREE 18484311, 19279310, 28549150, 30457409
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia LHGDN 18484311
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia ORPHANET_DG 19279310, 27124303
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Aniridia Aniridia Pubtator 21423868, 27124303 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations