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Standards Ontologies Notations
fukutin

Summary
Gene Symbol
  • FKTN
Aliases
  • LGMD2M
Organism
Homo sapiens (human)
External Links
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
protein glycosylation
negative regulation of JNK cascade
protein O-linked mannosylation
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
Rattus norvegicus XP_342839 XM_342838
Caenorhabditis elegans NP_497236 NM_064835
Mus musculus NP_647470 NM_139309
KEGG BRITE Database
Orthology
K19872
Name
fukutin [EC:2.7.8.-]
References
Disease
Disease Ontology
Displaying entries 141 - 150 of 216 in total
DO ID Disease Name Source
DOID:10907 microcephaly
DOID:11212 hydrophthalmos
DOID:11383 cryptorchidism
DOID:11541 recurrent corneal erosion
DOID:11712 lipoatrophic diabetes mellitus
DOID:11719 oculopharyngeal muscular dystrophy
DOID:11720 distal myopathy
DOID:11723 Duchenne muscular dystrophy
DOID:11724 limb-girdle muscular dystrophy
DOID:11727 facioscapulohumeral muscular dystrophy
The Human Phenotype Ontology
Displaying entries 31 - 40 of 168 in total
HPO ID HPO Term
HP:0000541 Retinal detachment
HP:0000545 Myopia
HP:0000556 Retinal dystrophy
HP:0000557 Buphthalmos
HP:0000568 Microphthalmia
HP:0000587 Abnormal optic nerve morphology
HP:0000589 Coloboma
HP:0000609 Optic nerve hypoplasia
HP:0000612 Iris coloboma
HP:0000618 Blindness
Displaying all 10 entries
Disease ID Disease Name
ORPHA:370980
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy without intellectual disability
ORPHA:154
  • dilated cardiomyopathy 1KK
  • obsolete familial isolated dilated cardiomyopathy
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
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:236670
  • 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
OMIM:611588
  • autosomal recessive limb-girdle muscular dystrophy type 2M
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
OMIM:611615
  • dilated cardiomyopathy 1X
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 81 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
173469 WB:WBGene00020307
188207 WB:WBGene00011554
189104 WB:WBGene00020924
189107 WB:WBGene00020927
189504 WB:WBGene00021249
100006345 ZFIN:ZDB-GENE-070410-96 DANRE35456
108259698 ICTPU23339
113582820 ELEEL30070
115160178 SALTR70125
115531894 GADMO24802
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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: August 19, 2024