Metazoan complexes |
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Details of C5orf42 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| C5orf42 | --- | Q9H799 | CE042_HUMAN | 65250 | ENSG00000197603 | Uncharacterized protein C5orf42 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Joubert syndrome 17 (JBTS17) [MIM:614615]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614615 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
ENSMUSG00000039801 | --- | --- | Sp-C5orf42L |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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