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Fkrp
Gene Detail
 Symbol
Name
ID
Fkrp
fukutin related protein
MGI:2447586
Synonyms A830029B19Rik, LGMD1I, MDC1C
Feature Type protein coding gene
Genetic Map
Chromosome 7
9.15 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:16809270-16816732 bp, - strand
From Ensembl annotation of GRCm38

  7463 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:11513  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 2 zebrafish

Gene Tree: Fkrp

Human
homologs
Human Homolog FKRP, fukutin related protein
NCBI Gene ID 79147
neXtProt AC  NX_Q9H9S5
Human Synonyms  LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Human Chr (Location)  19q13.32; chr19:46746046-46758575 (+)  GRCh38
Disease Associations  (4) Diseases Associated with Human FKRP
Alleles
and
phenotypes
All alleles(6) : Targeted(5) Gene trapped(1)
 
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.
 
Human Diseases Modeled Using Mouse Fkrp (3)    Alleles Annotated to Human Diseases(1)   
Gene Ontology
(GO)
classifications
All GO classifications: (16 annotations)
Process glycoprotein biosynthetic process, protein processing
Component dystrophin-associated glycoprotein complex, endoplasmic reticulum, ...
Function transferase activity
External Resources: FuncBase
Expression
Literature Summary: (1 records)
cDNA source data(86)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(86) cDNA(86)
Microarray probesets(6)
Other database
links
Ensembl Gene ModelENSMUSG00000048920 (Evidence)
Entrez Gene243853 (Evidence)
UniGene39703
DFCITC1574685, TC1625287
DoTSDT.528690, DT.55246275
NIA Mouse Gene IndexU028191
EC2.-.-.-
Consensus CDS ProjectCCDS20853.1
International Mouse Knockout Project StatusFkrp
Sequences
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 sequences
All sequences(43) RefSeq(8) UniProt(4)
Polymorphisms SNPs within 2kb(74 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR007074 LicD
Protein Ontology PR:000007547 fukutin-related protein
References (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:207119 Whitmore C, et al., The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Hum Mol Genet. 2014 Apr 1;23(7):1842-55
All references(39)
Other
accession IDs
MGI:2142041, MGI:2142045

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
04/08/2014
MGI 5.17
The Jackson Laboratory