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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 |
|---|---|---|
| protein glycosylation | ||
| negative regulation of JNK cascade | ||
| protein O-linked mannosylation |
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 |
|---|---|---|
| nucleus | ||
| endoplasmic reticulum | ||
| cis-Golgi network | ||
| extracellular space |
|
|
| Golgi apparatus |
GO Hierarchy
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: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
| HPO ID | HPO Term |
|---|---|
| HP:0000413 | Atresia of the external auditory canal |
| HP:0000482 | Microcornea |
| HP:0000485 | Megalocornea |
| HP:0000486 | Strabismus |
| HP:0000496 | Abnormality of eye movement |
| HP:0000501 | Glaucoma |
| HP:0000505 | Visual impairment |
| HP:0000518 | Cataract |
| HP:0000528 | Anophthalmia |
| HP:0000540 | Hypermetropia |
| Disease ID | Disease Name |
|---|---|
| ORPHA:370980 |
|
| ORPHA:154 |
|
| ORPHA:899 |
|
| OMIM:613152 |
|
| ORPHA:272 |
|
| OMIM:236670 |
|
| OMIM:253800 |
|
| OMIM:611588 |
|
| ORPHA:588 |
|
| OMIM:611615 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 101337367 | TURTR05676 | ||
| 118897049 | BALMU13658 | ||
| 100666247 | LOXAF17250 | ||
| 100054199 | HORSE24267 | ||
| 102181684 | CAPHI29608 | ||
| 105990776 | DIPOR12023 | ||
| 100761516 | CRIGR01233 | ||
| 246179 | MGI:2179507 | MOUSE43139 | |
| 362520 | RGD:1310087 | RATNO33685 | |
| 100721890 | CAVPO12518 |
