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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
fukutin
Summary
- Gene Symbol
-
- FKTN
- Aliases
-
- LGMD2M
- Organism
- Homo sapiens (human)
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
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| regulation of protein glycosylation | ||
| negative regulation of JNK cascade | ||
| muscle organ development |
GO Hierarchy
biological process
metabolic process [inference]
biological regulation [inference]
regulation of biological process [inference]
regulation of metabolic process [inference]
regulation of signaling [inference]
negative regulation of biological process [inference]
regulation of response to stimulus [inference]
regulation of cellular process [inference]
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi apparatus | ||
| Golgi membrane | ||
| endoplasmic reticulum | ||
| cis-Golgi network | ||
| extracellular space |
GO Hierarchy
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
| Gene Ontology |
|---|
| glycoprotein metabolic process |
| InterPro |
|---|
| LicD family |
| Ribitol-5-phosphate transferase FKTN-related |
GlycoGene Database (GGDB)
- GGDB ID
- gg187
- Gene Symbol
-
- FKTN
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | XP_342839 | XM_342838 |
| Caenorhabditis elegans | NP_497236 | NM_064835 |
| Mus musculus | NP_647470 | NM_139309 |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110443 | dilated cardiomyopathy 1B | |
| DOID:0110444 | dilated cardiomyopathy 1X | |
| DOID:0112379 | muscular dystrophy-dystroglycanopathy type B4 | |
| DOID:9884 | muscular dystrophy |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003394 | Muscle spasm |
| HP:0003457 | EMG abnormality |
| HP:0003458 | EMG: myopathic abnormalities |
| HP:0003557 | Increased variability in muscle fiber diameter |
| HP:0003560 | Muscular dystrophy |
| HP:0003577 | Congenital onset |
| HP:0003593 | Infantile onset |
| HP:0003596 | Middle age onset |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| Disease ID | Disease Name |
|---|---|
| ORPHA:154 |
|
| OMIM:236670 |
|
| ORPHA:588 |
|
| ORPHA:272 |
|
| ORPHA:899 |
|
| OMIM:611588 |
|
| OMIM:611615 |
|
| ORPHA:370980 |
|
| OMIM:253800 |
|
| OMIM:613152 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | OrthoDB | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|---|
| 100405050 | CALJA18845 | |||
| 100466440 | AILME04118 | |||
| 100545765 | MELGA13647 | |||
| 100559733 | ANOCA17162 | |||
| 100607655 | NOMLE18491 | |||
| 100666247 | LOXAF17250 | |||
| 100693284 | ORENI66974 | |||
| 100721890 | CAVPO12518 | |||
| 100722995 | CAVPO12518 | |||
| 100761516 | CRIGR01233 |
