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MIRAGE
fukutin

Summary
Gene Symbol
  • FKTN
Aliases
  • LGMD2M
Organism
Homo sapiens (human)
NCBI Gene
2218
GGDB ID
HGNC
3622
mRNA
map
  • 9q31-q33
Protein
OMIM
KEGG Gene ID
hsa:2218
PubChem
2218
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Cardiomyopathy
  • Congenital muscular dystrophy
  • Cytoplasm
  • Disease variant
  • Dystroglycanopathy
  • Glycoprotein
  • Golgi apparatus
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Nucleus
  • Reference proteome
  • Signal-anchor
  • Transferase
  • Transmembrane helix
Proteins
Displaying all 2 entries
UniProt Protein Name
B4E2W4
O75072
  • Fukutin
  • Fukuyama-type congenital muscular dystrophy protein
  • Ribitol-5-phosphate transferase
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 6 - 8 of 8 in total
GO Term Evidence Code PMID
negative regulation of cell population proliferation
negative regulation of JNK cascade
protein O-linked glycosylation
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
GlycoGene Database (GGDB)
GGDB ID
gg187
Gene Symbol
  • FKTN
Orthologous Gene
Displaying all 3 entries
Species Protein mRNA
Mus musculus NP_647470 NM_139309
Rattus norvegicus XP_342839 XM_342838
Caenorhabditis elegans NP_497236 NM_064835
KEGG BRITE Database
Orthology
K19872
Name
fukutin [EC:2.7.8.-]
References
Disease
The Human Phenotype Ontology
Displaying entries 91 - 100 of 168 in total
HPO ID HPO Term
HP:0002119 Ventriculomegaly
HP:0002126 Polymicrogyria
HP:0002167 Abnormality of speech or vocalization
HP:0002187 Intellectual disability, profound
HP:0002267 Exaggerated startle response
HP:0002269 Abnormality of neuronal migration
HP:0002282 Gray matter heterotopia
HP:0002334 Abnormal cerebellar vermis morphology
HP:0002350 Cerebellar cyst
HP:0002353 EEG abnormality
Displaying all 10 entries
Disease ID Disease Name
OMIM:236670
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:370980
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy without intellectual disability
OMIM:611615
  • dilated cardiomyopathy 1X
ORPHA:154
  • dilated cardiomyopathy 1KK
  • obsolete familial isolated dilated cardiomyopathy
OMIM:613152
  • muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
ORPHA:272
  • Fukuda-Miyanomae-Nakata syndrome
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
OMIM:611588
  • autosomal recessive limb-girdle muscular dystrophy type 2M
ORPHA:899
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
  • muscular dystrophy-dystroglycanopathy, type A
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:253800
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
PubChem Disease
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025