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Flcn Gene Detail
Summary
  • Symbol
    Flcn
  • Name
    folliculin
  • Synonyms
    B430214A04Rik, BHD
  • Feature Type
    protein coding gene
  • IDs
    MGI:2442184
    NCBI Gene: 216805
  • Gene Overview
    MyGene.info: FLCN
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr11:59791408-59810016 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      18609 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 37.79 cM
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    FLCN, folliculin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FLCN, folliculin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BHD, FLCL
  • Links
    NCBI Gene ID: 201163
    neXtProt AC: NX_Q8NFG4
    UniProt: Q8NFG4

  • Chr Location
    17p11.2; chr17:17206945-17237188 (-)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 14583
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: FLCN
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Flcn mouse models; 5 with human FLCN associations

Human Disease Mouse Models
      
IDs
View 2 models
IDs
View 1 model
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    32 phenotypes from 5 alleles in 6 genetic backgrounds
    2 phenotypes from multigenic genotypes
    27 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for either of two different knock-out alleles exhibit prenatal lethality. Mice homozygous for a gene-trapped allele show prenatal lethality while a fraction of heterozygotes develop spontaneous oncocytic renal cysts and solid renal tumors.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000008092 VEGA Gene Model | MGI Sequence Detail 18609 C57BL/6J ±  kb
    transcript OTTMUST00000018400 VEGA | MGI Sequence Detail 3437 Not Applicable  
    polypeptide OTTMUSP00000008459 VEGA | MGI Sequence Detail 579 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      252 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 15
      cDNA 13
      Primer pair 2

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2144365
    References
    more
    • Summaries
      All 54
      Developmental Gene Expression 3
      Diseases 2
      Gene Ontology 15
      Phenotypes 27
    • Earliest
      J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
    • Latest
      J:250512 Li J, et al., CITGeneDB: a comprehensive database of human and mouse genes enhancing or suppressing cold-induced thermogenesis validated by perturbation experiments in mice. Database (Oxford). 2017;

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    10/09/2018
    MGI 6.12
    The Jackson Laboratory