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Details of RANBP2 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| RANBP2 | NUP358 | P49792 | RBP2_HUMAN | 5903 | ENSG00000153201 | E3 SUMO-protein ligase RanBP2 Putative peptidyl-prolyl cis-trans isomerase | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Encephalopathy, acute, infection-induced, 3 (IIAE3) [MIM:608033]: A rapidly progressive encephalopathy manifesting in susceptible individuals with seizures and coma. It can occur within days in otherwise healthy children after common viral infections such as influenza and parainfluenza, without evidence of viral infection of the brain or inflammatory cell infiltration. Brain T2-weighted magnetic resonance imaging reveals characteristic symmetric lesions present in the thalami, pons and brainstem. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the RANBP2 gene predispose to IIAE3, but by themselves are insufficient to make the phenotype fully penetrant additional genetic and environmental factors are required (PubMed:19118815). | 608033 | ||||||||
Phenotypes
Abnormal bleeding, Abnormality of blood and blood-forming tissues, Abnormality of central motor function, Abnormality of fluid regulation, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of pyramidal motor function, Abnormality of the central nervous system, Abnormality of the cerebrospinal fluid, Abnormality of the cerebrum, Abnormality of the forebrain, Abnormality of the glial cells, Abnormality of the immune system, Abnormality of the lung, Abnormality of the nervous system, Abnormality of the respiratory system, Age of onset, All, Autosomal dominant inheritance, Cerebral edema, Cognitive impairment, Coma, Edema, Encephalopathy, Gliosis, Hypertonia, Increased CSF protein, Infantile onset, Intellectual disability, Mode of inheritance, Morphological abnormality of the central nervous system, Onset, Onset and clinical course, Phenotypic abnormality, Pneumonia, Reduced consciousness/confusion, Respiratory tract infection, Seizures, Spasticity, Spastic tetraplegia.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ranbp2 | Nup358 | --- | Sp-Ranbp2... | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| RANGAP1 | RANBP2 | 1 | RANGAP1 | RANBP2 | cpx155 | no | yes | yes | Known |
| COL4A3BP | RANBP2 | 0.113369905 | COL4A3BP | RANBP2 | cpx155 | no | no | no | Novel |
| RALY | RANBP2 | 0.091319704 | RALY | RANBP2 | cpx155 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| SNRNP200 | RANBP2 | 0.088039325 | SNRNP200 | RANBP2 |
| RANBP2 | UQCRC2 | 0.130632408 | RANBP2 | UQCRC2 |
| PRPF8 | RANBP2 | 0.129184137 | PRPF8 | RANBP2 |
| RANBP2 | IPO5 | 0.08712702 | RANBP2 | IPO5 |
| RAN | RANBP2 | 0.074907004 | RAN | RANBP2 |
| RANBP2 | TUBB | 0.083729816 | RANBP2 | TUBB |
| RANBP2 | NXF1 | 0.5 | RANBP2 | NXF1 |
| RPLP0 | RANBP2 | 0.140903892 | RPLP0 | RANBP2 |
| RANBP2 | EFTUD2 | 0.183766159 | RANBP2 | EFTUD2 |
| TOP2A | RANBP2 | 0.087139935 | TOP2A | RANBP2 |
| SRRM1 | RANBP2 | 0.075792117 | SRRM1 | RANBP2 |
| PTGES3 | RANBP2 | 0.108768305 | PTGES3 | RANBP2 |
| RANBP2 | VCP | 0.077801098 | RANBP2 | VCP |
| MED13 | RANBP2 | 0.091767272 | MED13 | RANBP2 |
| RANBP2 | CLTC | 0.114278764 | RANBP2 | CLTC |
| HNRNPC | RANBP2 | 0.091509289 | HNRNPC | RANBP2 |