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Fkrp Gene Detail
Summary
  • Symbol
    Fkrp
  • Name
    fukutin related protein
  • Synonyms
    A830029B19Rik, LGMD1I, MDC1C
  • Feature Type
    protein coding gene
  • IDs
    MGI:2447586
    NCBI Gene: 243853
Location & Maps
more
  • Sequence Map
    Chr7:16809270-16816732 bp, - strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      7463 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    FKRP, fukutin related protein
  • Vertebrate Orthologs
    10
  • Human Ortholog
    FKRP, fukutin related protein
    Orthology source: HomoloGene
  • Synonyms
    LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
  • Links
    NCBI Gene ID: 79147
    neXtProt AC: NX_Q9H9S5

  • Chr Location
    19q13.32; chr19:46744606-46758575 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 11513
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 western clawed frog;2 zebrafish
  • HCOP
    human homology predictions: FKRP
  • Gene Tree
Human Diseases
more
  • Diseases
    3 with Fkrp mouse models; 4 with human FKRP associations

Human Disease Mouse Models
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 5; MDDGA5   OMIM: 613153 View 1 model
Muscular Dystrophy-Dystroglycanopathy (congenital with or without Mental Retardation), Type B, 5; MDDGB5   OMIM: 606612 View 1 model
Muscular Dystrophy-Dystroglycanopathy (limb-Girdle), Type C, 5; MDDGC5   OMIM: 607155 View 3 models
       Muscular Dystrophy-Dystroglycanopathy (congenital with Brain and Eye Anomalies), Type A, 1; MDDGA1   OMIM: 236670
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    46 phenotypes from 4 alleles in 5 genetic backgrounds
    10 phenotypes from multigenic genotypes
    10 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryogenesis
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
tumorigenesis
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Gene trapped
    1
  • Targeted
    5
  • Incidental Mutations
Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology.
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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  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000048920 Ensembl Gene Model | MGI Sequence Detail 7463 C57BL/6J ±  kb
transcript ENSMUST00000061390 Ensembl | MGI Sequence Detail 2803 Not Applicable  
polypeptide ENSMUSP00000059091 Ensembl | MGI Sequence Detail 494 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    74 from dbSNP Build 137
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 86
    cDNA 86

    Microarray probesets 6
Other
Accession IDs
less
MGI:2142041, MGI:2142045
References
more
  • Summaries
    All 38
    Developmental Gene Expression 2
    Diseases 2
    Gene Ontology 7
    Phenotypes 10
  • 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:223307 Awano H, et al., Restoration of Functional Glycosylation of alpha-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration. Am J Pathol. 2015 Jul;185(7):2025-37

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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Funding Information
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last database update
02/02/2016
MGI 6.02
The Jackson Laboratory