FKRP (fukutin related protein)

2014-11-01  

Identity

HGNC
LOCATION
19q13.32
LOCUSID
ALIAS
FKTR,LGMD2I,LGMDR9,MDC1C,MDDGA5,MDDGB5,MDDGC5

Other Information

Locus ID:

NCBI: 79147
MIM: 606596
HGNC: 17997
Ensembl: ENSG00000181027

Variants:

dbSNP: 79147
ClinVar: 79147
TCGA: ENSG00000181027
COSMIC: FKRP

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000181027ENST00000318584Q9H9S5
ENSG00000181027ENST00000318584A0A024R0R7
ENSG00000181027ENST00000391909Q9H9S5
ENSG00000181027ENST00000391909A0A024R0R7
ENSG00000181027ENST00000593800M0R0G0
ENSG00000181027ENST00000593875M0QZ46
ENSG00000181027ENST00000593902M0R005
ENSG00000181027ENST00000594467M0R1M1
ENSG00000181027ENST00000595570M0R016
ENSG00000181027ENST00000595868M0R112
ENSG00000181027ENST00000596460M0QXT8
ENSG00000181027ENST00000597313M0R274
ENSG00000181027ENST00000598271M0R092
ENSG00000181027ENST00000600005M0QZ68
ENSG00000181027ENST00000600227M0QX03
ENSG00000181027ENST00000600629M0QYV4
ENSG00000181027ENST00000600834M0QYR2
ENSG00000181027ENST00000601299M0QYV8
ENSG00000181027ENST00000602181M0R342
ENSG00000181027ENST00000602250M0R2U3

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Metabolic pathwaysKEGGhsa01100
Mannose type O-glycan biosynthesisKEGGko00515
Mannose type O-glycan biosynthesisKEGGhsa00515

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
117418282001Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C.100
269235852016Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy.63
192993102009Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study.54
126661242003Phenotypic spectrum associated with mutations in the fukutin-related protein gene.45
199551192010Zebrafish models for human FKRP muscular dystrophies.36
209617592011Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I.19
152132462004Subcellular localization of fukutin and fukutin-related protein in muscle cells.18
155744642005Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.18
126549652003FKRP gene mutations cause congenital muscular dystrophy, mental retardation, and cerebellar cysts.15
146527962004New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families.15

Citation

Dessen P

FKRP (fukutin related protein)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/63403/fkrp