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Details of NUP62 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| NUP62 | --- | P37198 | NUP62_HUMAN | 23636 | ENSG00000213024 | Nuclear pore glycoprotein p62 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Infantile striatonigral degeneration (SNDI) [MIM:271930]: Neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement of the rest of the brain. The clinical features include developmental regression, choreoathetosis, dystonia, spasticity, dysphagia, failure to thrive, nystagmus, optic atrophy, and mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 271930 | ||||||||
Phenotypes
Abnormality of body weight, Abnormality of central motor function, Abnormality of eye movement, Abnormality of higher mental function, Abnormality of movement, Abnormality of pyramidal motor function, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the central nervous system, Abnormality of the esophagus, Abnormality of the eye, Abnormality of the fundus, Abnormality of the gastrointestinal tract, Abnormality of the nervous system, Abnormality of the optic nerve, Abnormality of the posterior segment of the eye, All, Autosomal recessive inheritance, Cognitive impairment, Decreased body weight, Developmental regression, Developmental stagnation, Dysphagia, Dystonia, Failure to thrive, Growth abnormality, Heterogeneous, Hypertonia, Intellectual disability, Mitochondrial inheritance, Mode of inheritance, Nystagmus, Optic atrophy, Phenotypic abnormality, Spasticity.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Nup62 | Nup62 | npp-11 | --- | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| NUP214 | NUP62 | 1 | NUP214 | NUP62 | cpx382 | no | yes | no | Known |
| NUP88 | NUP62 | 1 | NUP88 | NUP62 | cpx382 | no | yes | no | Known |