Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
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 1 - 10 of 216 in total
DO ID Disease Name Source
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050453 lissencephaly
DOID:0050463 campomelic dysplasia
DOID:0050557 congenital muscular dystrophy
DOID:0050559 Fukuyama congenital muscular dystrophy
DOID:0050560 Walker-Warburg syndrome
DOID:0050588 muscular dystrophy-dystroglycanopathy type B1
DOID:0050700 cardiomyopathy
DOID:0050777 Joubert syndrome
DOID:0060249 scoliosis
The Human Phenotype Ontology
Displaying entries 51 - 60 of 168 in total
HPO ID HPO Term
HP:0001263 Global developmental delay
HP:0001265 Hyporeflexia
HP:0001270 Motor delay
HP:0001272 Cerebellar atrophy
HP:0001274 Agenesis of corpus callosum
HP:0001276 Hypertonia
HP:0001284 Areflexia
HP:0001288 Gait disturbance
HP:0001290 Generalized hypotonia
HP:0001302 Pachygyria
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 41 - 50 of 81 in total
Species Gene ID Alliance of Genome Resources Orthologous MAtrix
100722995 CAVPO12518
101592708 OCTDE15603
101701255 HETGA16584
101879516 MELUD01263
100016678 MONDO30393
102449717 PELSI14241
100559733 ANOCA17162
103678546 URSMA15761
113897621 BOBOX31384
100965786 OTOGA15736
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.0.0

Last updated: August 19, 2024