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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:0060771 | obsolete dextro-looped transposition of the great arteries 1 | |
| DOID:0060772 | multiple types of congenital heart defects 6 | |
| DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
| DOID:0060823 | syndromic X-linked intellectual disability 94 | |
| DOID:0060857 | septooptic dysplasia | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080033 | craniometaphyseal dysplasia | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0080102 | congenital myopathy 4A |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000050 | Hypoplastic male external genitalia |
| HP:0000110 | Renal dysplasia |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000204 | Cleft upper lip |
| HP:0000238 | Hydrocephalus |
| HP:0000248 | Brachycephaly |
| 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 |
|---|---|---|---|
| 115051911 | ECHNA50555 | ||
| 115384591 | SALFA16979 | ||
| 105805622 | PROCO15909 | ||
| 853524 | SGD:S000003822 | ||
| 853634 | SGD:S000001684 | ||
| 109092520 | CYPCA18420 | ||
| 109104555 | CYPCA14176 | ||
| 103751267 | NANGA07227 | ||
| 116438063 | CORMO27782 | ||
| 103271423 | CARSF16820 |
