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; chr9:108320411-108403399 (+)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human FKTN

Alleles and phenotypes

All alleles(12) : Targeted(8) Gene trapped(4)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (12 annotations)

Process	negative regulation of cell proliferation, negative regulation of JNK cascade, ...
Component	cis-Golgi network, endoplasmic reticulum, ...
Function	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 Type	Results
RNA in situ	100
Northern blot	12
RT-PCR	7

cDNA source data(13)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(15) cDNA(13) Primer pair(2)
Microarray probesets(7)

Other database links

VEGA Gene Model	OTTMUSG00000007009 (Evidence)
Ensembl Gene Model	ENSMUSG00000028414 (Evidence)
Entrez Gene	246179 (Evidence)
DFCI	TC1580311, TC1591176, TC1600684, TC1611469
DoTS	DT.101347623, DT.101354787, DT.101362681, DT.481686, DT.87040341, DT.94183084, DT.97367797
EC	2.-.-.-
Consensus CDS Project	CCDS18191.1
International Mouse Knockout Project Status	Fktn

Sequences

Length	Strain/Species
genomic	OTTMUSG00000007009	VEGA Gene Model | MGI Sequence Detail	51788	C57BL/6J
transcript	OTTMUST00000016204	VEGA | MGI Sequence Detail	6080	Not Applicable
polypeptide	OTTMUSP00000007427	VEGA | MGI Sequence Detail	461	Not Applicable

All sequences(43) RefSeq(2) UniProt(4)

Polymorphisms

SNPs(346 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:187144 Beedle AM, et al., Mouse fukutin deletion impairs dystroglycan processing and recapitulates muscular dystrophy. J Clin Invest. 2012 Sep 4;122(9):3330-42
All references(45)

Other accession IDs

MGI:2442294