Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
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)
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
regulation of protein glycosylation
negative regulation of JNK cascade
muscle organ development
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
OrthoDB (Group)
Group level
Eukaryota
Group Name
Fukutin
Functional Category
  • G: Carbohydrate transport and metabolism
  • M: Cell wall/membrane/envelope biogenesis
  • O: Posttranslational modification, protein turnover, chaperones
Displaying 1 entry
Gene Ontology
glycoprotein metabolic process
Displaying all 2 entries
InterPro
LicD family
Ribitol-5-phosphate transferase FKTN-related
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
The Human Phenotype Ontology
Displaying entries 161 - 168 of 168 in total
HPO ID HPO Term
HP:0012548 Fatty replacement of skeletal muscle
HP:0012664 Reduced left ventricular ejection fraction
HP:0012764 Orthopnea
HP:0012793 Kinked brainstem
HP:0100022 Abnormality of movement
HP:0100490 Camptodactyly of finger
HP:0100543 Cognitive impairment
HP:0100578 Lipoatrophy
Displaying all 10 entries
Disease ID Disease Name
ORPHA:154
  • dilated cardiomyopathy 1KK
  • obsolete familial isolated dilated cardiomyopathy
OMIM:236670
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:588
  • muscle-eye-brain disease
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
ORPHA:272
  • Fukuda-Miyanomae-Nakata syndrome
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
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:611588
  • autosomal recessive limb-girdle muscular dystrophy type 2M
OMIM:611615
  • dilated cardiomyopathy 1X
ORPHA:370980
  • muscular dystrophy-dystroglycanopathy type B5
  • obsolete congenital muscular dystrophy without intellectual disability
OMIM:253800
  • muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
OMIM:613152
  • muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 1 - 10 of 83 in total
Species Gene ID OrthoDB Alliance of Genome Resources Orthologous MAtrix
173469 WB:WBGene00020307
188207 WB:WBGene00011554
189104 WB:WBGene00020924
189107 WB:WBGene00020927
189504 WB:WBGene00021249
246179 MGI:2179507 MOUSE43139
362520 RGD:1310087 RATNO33685
464634 9598_0:00273f PANTR44522
481652 CANLF02398
495324 Xenbase:XB-GENE-971793
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 v4.1.0

Last updated: December 9, 2024