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    FOXC2 forkhead box C2 [ Homo sapiens (human) ]

    Gene ID: 2303, updated on 5-Mar-2024

    Summary

    Official Symbol
    FOXC2provided by HGNC
    Official Full Name
    forkhead box C2provided by HGNC
    Primary source
    HGNC:HGNC:3801
    See related
    Ensembl:ENSG00000176692 MIM:602402; AllianceGenome:HGNC:3801
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LD; MFH1; MFH-1; FKHL14
    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 may play a role in the development of mesenchymal tissues. [provided by RefSeq, Jul 2008]
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See FOXC2 in Genome Data Viewer
    Location:
    16q24.1
    Exon count:
    1
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (86566829..86569728)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (92635146..92638044)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86600435..86603334)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene methenyltetrahydrofolate synthetase domain containing Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86586448-86587112 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86587113-86587775 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86588698-86588911 Neighboring gene uncharacterized protein FLJ30679 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86600570-86601154 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86601155-86601738 Neighboring gene NANOG hESC enhancer GRCh37_chr16:86603947-86604448 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:86613015-86613636 Neighboring gene forkhead box L1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86643521-86644020 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86644136-86644702 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86655227-86655748 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86679869-86680369 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr16:86697509-86698708 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7832 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:86733288-86733475 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:86733737-86734644 Neighboring gene long intergenic non-protein coding RNA 2189

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    Associated conditions

    Description Tests
    Distichiasis-lymphedema syndrome Compare labs

    Copy number response

    Description
    Copy number response
    Triplosensitivity

    No evidence available (Last evaluated 2013-11-26)

    ClinGen Genome Curation Page
    Haploinsufficency

    Sufficient evidence for dosage pathogenicity (Last evaluated 2013-11-26)

    ClinGen Genome Curation PagePubMed

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables chromatin DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables promoter-specific chromatin binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription cis-regulatory region binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Process Evidence Code Pubs
    involved_in Notch signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in anatomical structure morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in apoptotic process involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel diameter maintenance IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in blood vessel remodeling IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in branching involved in blood vessel morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in camera-type eye development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in cell differentiation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in collagen fibril organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic heart tube development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in embryonic viscerocranium morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular endothelium development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in glomerular mesangial cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in insulin receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in lymphangiogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in mesoderm development NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in metanephros development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of apoptotic process involved in outflow tract morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation of cold-induced thermogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in neural crest cell development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ossification IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in paraxial mesodermal cell fate commitment IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in podocyte differentiation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of cell adhesion mediated by integrin ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of cell migration involved in sprouting angiogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of endothelial cell migration ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in positive regulation of vascular wound healing ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of organ growth IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in response to hormone IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in somitogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ureteric bud development IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in vascular endothelial growth factor receptor signaling pathway IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in ventricular cardiac muscle tissue morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    part_of chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleus IC
    Inferred by Curator
    more info
    PubMed 
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    forkhead box protein C2
    Names
    MFH-1,mesenchyme forkhead 1
    forkhead box C2 (MFH-1, mesenchyme forkhead 1)
    forkhead, Drosophila, homolog-like 14
    forkhead-related protein FKHL14
    mesenchyme fork head protein 1
    mesenchyme forkhead 1
    transcription factor FKH-14

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012025.2 RefSeqGene

      Range
      5001..7900
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1292

    mRNA and Protein(s)

    1. NM_005251.3NP_005242.1  forkhead box protein C2

      See identical proteins and their annotated locations for NP_005242.1

      Status: REVIEWED

      Source sequence(s)
      AC009108, BC113439
      Consensus CDS
      CCDS10958.1
      UniProtKB/Swiss-Prot
      C6KMR9, Q14DA6, Q99958
      Related
      ENSP00000497759.1, ENST00000649859.1
      Conserved Domains (1) summary
      smart00339
      Location:72160
      FH; FORKHEAD

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      86566829..86569728
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      92635146..92638044
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)