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Fktn Gene Detail
Summary
  • Symbol
    Fktn
  • Name
    fukutin
  • Synonyms
    Fcmd, Fukutin
  • Feature Type
    protein coding gene
  • IDs
    MGI:2179507
    NCBI Gene: 246179
  • Gene Overview
    MyGene.info: FKTN
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr4:53713998-53765785 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      51788 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 28.74 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    FKTN, fukutin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FKTN, fukutin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
  • Links
    NCBI Gene ID: 2218
    neXtProt AC: NX_O75072
    UniProt: O75072

  • Chr Location
    9q31.2; chr9:105558117-105655950 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 31402
    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: FKTN
  • Gene Tree
Human Diseases
more
  • Diseases
    2 with Fktn mouse models; 5 with human FKTN associations

Human Disease Mouse Models
      
IDs
View 6 models
IDs
View 3 models
      
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    4 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    35 phenotypes from 5 alleles in 8 genetic backgrounds
    11 phenotypes from multigenic genotypes
    19 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.
Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes.
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000007009 VEGA Gene Model | MGI Sequence Detail 51788 C57BL/6J ±  kb
    transcript OTTMUST00000016204 VEGA | MGI Sequence Detail 6080 Not Applicable  
    polypeptide OTTMUSP00000007427 VEGA | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      397 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 17
      cDNA 14
      Primer pair 3

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2442294
    References
    more
    • Summaries
      All 49
      Developmental Gene Expression 9
      Diseases 5
      Gene Ontology 5
      Phenotypes 19
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:258733 Sudo A, et al., Temporal requirement of dystroglycan glycosylation during brain development and rescue of severe cortical dysplasia via gene delivery in the fetal stage. Hum Mol Genet. 2018 Apr 1;27(7):1174-1185

    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
    10/16/2018
    MGI 6.12
    The Jackson Laboratory