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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; 1 western clawed frog; 2 zebrafish

HCOP human homology predictions: FKRP
Gene Tree: Fkrp

Human
homologs
FKRP, fukutin related protein
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 79147
neXtProt AC: NX_Q9H9S5

Human Synonyms: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5

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

Disease Associations: (4) Diseases Associated with Human FKRP

Mutations,
alleles, and
phenotypes
All mutations/alleles(6) : Gene trapped(1) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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 in Mice Using Fkrp (3)    Mutations Annotated to Human Diseases (2)   
Interactions
Fkrp interacts with 166 markers (Mir1b, Mir9-1, Mir9-2, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
cDNA source data(86)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase fkrp ; ZFIN fkrp    NEW 
Molecular
reagents
All nucleic(86) cDNA(86)
Microarray probesets(6)
Other database
links
Ensembl Gene Model ENSMUSG00000048920 (Evidence)
Entrez Gene 243853 (Evidence)
UniGene 39703
DFCI TC1574685, TC1625287
DoTS DT.55246275, DT.528690
NIA Mouse Gene Index U028191
EC 2.-.-.-
Consensus CDS Project CCDS20853.1
International Mouse Phenotyping Consortium Status Fkrp
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(45) RefSeq(10) 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(40)
Disease annotation references (2)
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
07/21/2015
MGI 5.22
The Jackson Laboratory