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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
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr4:53713745-53765785 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 4, 28.74 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1713 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 Chr4:53713745-53777890 (+)
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
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    FKTN, fukutin
  • Synonyms
    CMD1X, FCMD, LGMD2M, LGMDR13, MDDGA4, MDDGB4, MDDGC4
  • Links
    NCBI Gene ID: 2218
    neXtProt AC: NX_O75072
    UniProt: O75072

  • Chr Location
    9q31.2; chr9:105558122-105653820 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Fktn mouse models; 8 with human FKTN associations

Human Disease Mouse Models
      
IDs
 View 6 models
      
IDs
 View 3 models
      
IDs
IDs
IDs
IDs
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 4 alleles in 7 genetic backgrounds
    12 phenotypes from multigenic genotypes
    23 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
less
  • All GO Annotations
    36
  • GO References
    10
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
    872
  • Tissues
    113
  • cDNA Data
    14
  • Literature Summary
    11
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 246179 NCBI Gene Model | MGI Sequence Detail 52041 C57BL/6J ±  kb
    transcript NM_001363128 RefSeq | MGI Sequence Detail 6413 ZRU/MplStud  
    polypeptide Q8R507 UniProt | EBI | MGI Sequence Detail 461 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 18
      cDNA 14
      Primer pair 4

      Microarray probesets 7
    Other
    Accession IDs
    less
    MGI:2442294
    References
    more
    • Summaries
      All 55
      Developmental Gene Expression 11
      Diseases 5
      Gene Ontology 10
      Phenotypes 23
    • 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:307860 Choquet H, et al., A large multiethnic GWAS meta-analysis of cataract identifies new risk loci and sex-specific effects. Nat Commun. 2021 Jun 14;12(1):3595
    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