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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
  • Transcription Start Sites
    1 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:53712729-53765785 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 4, 28.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    409 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2179507
protein coding gene Chr4:53712729-53777890 (.)
129S1/SvImJ MGP_129S1SvImJ_G0028301
protein coding gene Chr4:52355468-52413451 (+)
A/J MGP_AJ_G0028262
protein coding gene Chr4:50347489-50398960 (+)
AKR/J MGP_AKRJ_G0028211
protein coding gene Chr4:51713886-51772942 (+)
BALB/cJ MGP_BALBcJ_G0028281
protein coding gene Chr4:50533080-50584848 (+)
C3H/HeJ MGP_C3HHeJ_G0028002
protein coding gene Chr4:52271197-52321016 (+)
C57BL/6NJ MGP_C57BL6NJ_G0028722
protein coding gene Chr4:54274701-54327046 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0026030
protein coding gene Chr4:47301400-47354489 (+)
CAST/EiJ MGP_CASTEiJ_G0027440
protein coding gene Chr4:51921129-51976323 (+)
CBA/J MGP_CBAJ_G0027967
protein coding gene Chr4:56132951-56188688 (+)
DBA/2J MGP_DBA2J_G0028117
protein coding gene Chr4:50314373-50362780 (+)
FVB/NJ MGP_FVBNJ_G0028084
protein coding gene Chr4:49552302-49604094 (+)
LP/J MGP_LPJ_G0028216
protein coding gene Chr4:52464839-52517213 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0028108
protein coding gene Chr4:59332018-59392886 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0028758
protein coding gene Chr4:51951082-52009596 (+)
PWK/PhJ MGP_PWKPhJ_G0027165
protein coding gene Chr4:50264657-50316469 (+)
SPRET/EiJ MGP_SPRETEiJ_G0026993
protein coding gene Chr4:51242218-51297383 (+)
WSB/EiJ MGP_WSBEiJ_G0027518
protein coding gene Chr4:51859777-51912370 (+)



Homology
more
  • Human Ortholog
    FKTN, fukutin
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FKTN, fukutin
    Orthology source: HGNC, HomoloGene
  • 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
less
  • 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
less
  • 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 population 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 246179 NCBI Gene Model | MGI Sequence Detail 53057 C57BL/6J ±  kb
    transcript NM_001363128 RefSeq | MGI Sequence Detail 6413 C57BL/6  
    polypeptide Q8R507 UniProt | EBI | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    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 48
      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
    12/11/2018
    MGI 6.13
    The Jackson Laboratory