FOXC2 (forkhead box C2)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2303
Gene name Gene Name - the full gene name approved by the HGNC.
Forkhead box C2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
FOXC2
Synonyms (NCBI Gene) Gene synonyms aliases
FKHL14, LD, MFH-1, MFH1
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16q24.1
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 may play a role in the development of mesenchy
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT736033 hsa-miR-548c-5p Luciferase reporter assay, Immunoprecipitaion (IP) 31531679
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(3)
Transcription factor Regulation Reference
BRCA1 Repression 22120723
GATA3 Repression 22120723
GLI2 Unknown 19360354
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide all(86)
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:0000976 Function Transcription cis-regulatory region binding IEA
GO:0000976 Function Transcription cis-regulatory region binding ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
602402 3801 ENSG00000176692
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
UniProt ID Q99958
Protein name Forkhead box protein C2 (Forkhead-related protein FKHL14) (Mesenchyme fork head protein 1) (MFH-1 protein) (Transcription factor FKH-14)
Protein function Transcriptional activator.
PDB 1D5V , 6AKO , 6AKP , 6LBM , 6O3T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00250 Forkhead 71 → 157 Forkhead domain Domain
Sequence 
MQARYSVSDPNALGVVPYLSEQNYYRAAGSYGGMASPMGVYSGHPEQYSAGMGRSYAPYH
HHQPAAPKDLVKPPYSYIALITMAIQNAPEKKITLNGIYQFIMDRFPFYRENKQGWQNSI
RHNLSLNECFVKVPRDDKKPGKGSYWTLDPDSYNMFENGSFLRRRRRFKKKDVSKEKEER
AHLKEPPPAASKGAPATPHLADAPKEAEKKVVIKSEAASPALPVITKVETLSPESALQGS
PRSAASTPAGSPDGSLPEHHAAAPNGLPGFSVENIMTLRTSPPGGELSPGAGRAGLVVPP
LALPYAAAPPAAYGQPCAQGLEAGAAGGYQCSMRAMSLYTGAERPAHMCVPPALDEALSD
HPSGPTSPLSALNLAAGQEGALAATGHHHQHHGHHHPQAPPPPPAPQPQPTPQPGAAAAQ
AASWYLNHSGDLNHLPGHTFAAQQQTFPNVREMFNSHRLGIENSTLGESQVSGNASCQLP
YRSTPPLYRHAAPYSYDCTKY
Sequence length 501
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)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Lymphedema-Distichiasis Syndrome With Renal Disease And Diabetes Mellitus lymphedema-distichiasis syndrome with renal disease and diabetes mellitus rs1567571636 N/A
Nonimmune Hydrops Fetalis non-immune hydrops fetalis rs1567571564 N/A
Show/Hide Unknown Diseases (1)
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
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Show/Hide Text Mining Associations (70)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenocarcinoma Associate 26758745
Alopecia Areata Associate 20546884
Arachnoid Cysts Associate 20535019, 26545093
Atherosclerosis Associate 32271448
Baetz Greenwalt syndrome Associate 31204705
Breast Neoplasms Associate 25053741, 25486430, 26210254, 27064522, 29216867
Breast Neoplasms Stimulate 29562954
Calcinosis Cutis Associate 31464093
Carcinoma Hepatocellular Associate 25289898, 29801468, 39344752
Carcinoma Large Cell Associate 25413006