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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
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
  • Synonyms
    CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4
  • Links
    NCBI Gene ID: 2218
    neXtProt AC: NX_O75072

  • Chr Location
    9q31.2; chr9:105558119-105641118 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 31402
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 western clawed frog;1 zebrafish
  • HCOP
    human homology predictions: FKTN
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Fktn mouse models; 5 with human FKTN associations

Human Disease Mouse Models
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 4; MDDGA4   OMIM: 253800 View 6 models
       Cardiomyopathy, Dilated, 1x; CMD1X   OMIM: 611615
Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1   OMIM: 236670
Muscular Dystrophy-Dystroglycanopathy (congenital without Mental Retardation), Type B, 4; MDDGB4   OMIM: 613152 View 1 model
Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 4; MDDGC4   OMIM: 611588
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    4 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
    15 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 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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
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Sequences &
Gene Models
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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 15
    cDNA 13
    Primer pair 2

    Microarray probesets 7
Other
Accession IDs
less
MGI:2442294
References
more
  • Summaries
    All 46
    Developmental Gene Expression 8
    Diseases 4
    Gene Ontology 6
    Phenotypes 15
  • 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:221523 Kanagawa M, et al., Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS One. 2014;9(9):e106721

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
07/12/2016
MGI 6.04
The Jackson Laboratory