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Foxc1 Gene Detail
Summary
  • Symbol
    Foxc1
  • Name
    forkhead box C1
  • Synonyms
    fkh-1, fkh1, Fkh1, FREAC3, frkhda, Mf1, Mf4
  • Feature Type
    protein coding gene
  • IDs
    MGI:1347466
    NCBI Gene: 17300
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr13:31990629-31994618 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 13, 13.52 cM
  • Mapping Data
    13 experiments
Strain
Comparison
more
  • SNPs within 2kb
    111 from dbSNP Build 142
  • Strain Annotations
    18
  • PCR
    1
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1347466
 protein coding gene Chr13:31990616-31996459 (+)
129S1/SvImJ MGP_129S1SvImJ_G0020423
 protein coding gene Chr13:29750708-29754660 (+)
A/J MGP_AJ_G0020378
 protein coding gene Chr13:28940724-28944673 (+)
AKR/J MGP_AKRJ_G0020355
 protein coding gene Chr13:29574852-29578804 (+)
BALB/cJ MGP_BALBcJ_G0020373
 protein coding gene Chr13:29037904-29041856 (+)
C3H/HeJ MGP_C3HHeJ_G0020176
 protein coding gene Chr13:29576695-29580647 (+)
C57BL/6NJ MGP_C57BL6NJ_G0020809
 protein coding gene Chr13:30757711-30761663 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0018400
 protein coding gene Chr13:27312865-27316830 (+)
CAST/EiJ MGP_CASTEiJ_G0019693
 protein coding gene Chr13:29266682-29270636 (+)
CBA/J MGP_CBAJ_G0020132
 protein coding gene Chr13:32065673-32069625 (+)
DBA/2J MGP_DBA2J_G0020254
 protein coding gene Chr13:28463703-28467654 (+)
FVB/NJ MGP_FVBNJ_G0020239
 protein coding gene Chr13:28074271-28078222 (+)
LP/J MGP_LPJ_G0020331
 protein coding gene Chr13:29966313-29970265 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0020265
 protein coding gene Chr13:32176088-32181755 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0020850
 protein coding gene Chr13:29243891-29247843 (+)
PWK/PhJ MGP_PWKPhJ_G0019448
 protein coding gene Chr13:28627595-28631546 (+)
SPRET/EiJ MGP_SPRETEiJ_G0019269
 protein coding gene Chr13:28136916-28140863 (+)
WSB/EiJ MGP_WSBEiJ_G0019755
 protein coding gene Chr13:29533826-29537773 (+)



Homology
more
  • Human Ortholog
    FOXC1, forkhead box C1
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FOXC1, forkhead box C1
  • Synonyms
    ARA, ASGD3, FKHL7, FREAC-3, FREAC3, IGDA, IHG1, IRID1, RIEG3
  • Links
    NCBI Gene ID: 2296
    neXtProt AC: NX_Q12948
    UniProt: Q12948

  • Chr Location
    6p25.3; chr6:1609915-1613897 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Foxc1 mouse models; 4 with human FOXC1 associations

Human Disease Mouse Models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    213 phenotypes from 5 alleles in 15 genetic backgrounds
    64 phenotypes from multigenic genotypes
    4 images
    78 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homozygous mutants are neonatal lethal with congenital hydrocephalus, edema, abnormalities of the eye, skull, axial skeleton, kidney-ureter and cardiovascular systems. Heterozygotes have variable milder defects depending on genetic background.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    117
  • GO References
    35
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    1473
  • Tissues
    389
  • cDNA Data
    43
  • Literature Summary
    111
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 17300 NCBI Gene Model | MGI Sequence Detail 3990 C57BL/6J ±  kb
    transcript NM_008592 RefSeq | MGI Sequence Detail 3990 Not Specified  
    polypeptide Q61572 UniProt | EBI | MGI Sequence Detail 553 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      1 Sequence
    • Protein Ontology
      PR:000007607 forkhead box protein C1
      (term hierarchy)
    • InterPro Domains
      IPR050211 Forkhead box domain-containing protein
      IPR047391 Forkhead box protein C1/C2-like, forkhead domain
      IPR001766 Fork head domain
      IPR018122 Fork head domain conserved site1
      IPR030456 Fork head domain conserved site 2
      IPR036390 Winged helix DNA-binding domain superfamily
      IPR036388 Winged helix-like DNA-binding domain superfamily
    • GlyGen
      Q61572 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 69
      Genomic 8
      cDNA 45
      Primer pair 7
      Other 9

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGD-MRK-16690, MGD-MRK-1966, MGD-MRK-24021, MGD-MRK-35060, MGD-MRK-9813, MGI:103155, MGI:88391, MGI:95544
    References
    more
    • Summaries
      All 201
      Developmental Gene Expression 111
      Diseases 1
      Gene Ontology 35
      Phenotypes 78
    • Earliest
      J:75733 Gruneberg H, Congenital hydrocephalus in the mouse, a case of spurious pleiotropism. J Genet. 1943;45(1):1-21
    • Latest
      J:353623 Almubarak A, et al., FOXC1 and FOXC2 regulate growth plate chondrocyte maturation towards hypertrophy in the embryonic mouse limb skeleton. Development. 2024 Aug 15;151(16)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory