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FOXC2 forkhead box C2 [ Homo sapiens (human) ]

Gene ID: 2303, updated on 1-Jun-2020

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
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

Genomic context

See FOXC2 in Genome Data Viewer
Location:
16q24.1
Exon count:
1
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 16 NC_000016.10 (86566829..86569728)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (86600857..86602539)

Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene ribosomal protein L7a pseudogene 63 Neighboring gene methenyltetrahydrofolate synthetase domain containing Neighboring gene uncharacterized protein FLJ30679 Neighboring gene FOXC2 antisense RNA 1 Neighboring gene forkhead box L1 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

Homology

Gene Ontology Provided by GOA

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

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)

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
    Q99958
    Related
    ENSP00000497759.1, ENST00000649859.1
    Conserved Domains (1) summary
    smart00339
    Location:72160
    FH; FORKHEAD

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000016.10 Reference GRCh38.p13 Primary Assembly

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