About   Help   FAQ
Fktn
Gene Detail
 Symbol
Name
ID
Fktn
fukutin
MGI:2179507
Synonyms Fcmd, Fukutin
Feature Type protein coding gene
Genetic Map
Chromosome 4
28.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr4:53713998-53765785 bp, + strand
From VEGA annotation of GRCm38

  51788 bp   ±  kb flank

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


Mouse Genome Browser
Vertebrate
homology
HomoloGene:31402  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

Gene Tree: Fktn

Human
homologs
Human Homolog FKTN, fukutin
NCBI Gene ID 2218
neXtProt AC  NX_O75072
Human Synonyms  CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4
Human Chr (Location)  9q31-q33; chr9:105558130-105641118 (+)  GRCh38
Disease Associations  (5) Diseases Associated with Human FKTN
Mutations,
alleles, and
phenotypes
All mutations/alleles(13) : Gene trapped(4) Targeted(9)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Fktn (2)    Alleles Annotated to Human Diseases(3)   
Interactions
Fktn interacts with 406 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (13 annotations)
Process negative regulation of cell proliferation, negative regulation of JNK cascade, ...
Component cis-Golgi network, endoplasmic reticulum, ...
Function Kdo transferase activity, transferase activity
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (119)    Tissues (78)    Images (18)
Theiler Stages: 10, 15, 17, 18, 19, 20, 21, 23, 25, 28
Assay TypeResults
RNA in situ 100
Northern blot 12
RT-PCR 7
cDNA source data(13)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(15) cDNA(13) Primer pair(2)
Microarray probesets(7)
Other database
links
VEGA Gene ModelOTTMUSG00000007009 (Evidence)
Ensembl Gene ModelENSMUSG00000028414 (Evidence)
Entrez Gene246179 (Evidence)
DFCITC1580311, TC1591176, TC1600684, TC1611469
DoTSDT.101347623, DT.101354787, DT.101362681, DT.481686, DT.87040341, DT.94183084, DT.97367797
EC2.-.-.-
Consensus CDS ProjectCCDS18191.1
International Mouse Knockout Project StatusFktn
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000007009 VEGA Gene Model | MGI Sequence Detail 51788 C57BL/6J ±  kb
transcript OTTMUST00000016204 VEGA | MGI Sequence Detail 6080 Not Applicable 
polypeptide OTTMUSP00000007427 VEGA | MGI Sequence Detail 461 Not Applicable 

For the selected sequences
All sequences(50) RefSeq(8) UniProt(3)
Polymorphisms SNPs within 2kb(397 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR009644 Fukutin-related
InterPro IPR007074 LicD
Protein Ontology PR:000007548 fukutin
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:198535 Kanagawa M, et al., Impaired viability of muscle precursor cells in muscular dystrophy with glycosylation defects and amelioration of its severe phenotype by limited gene expression. Hum Mol Genet. 2013 Aug 1;22(15):3003-15
All references(47)
Disease annotation references (3)
Other
accession IDs
MGI:2442294

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
08/12/2014
MGI 5.19
The Jackson Laboratory