Metazoan complexes |
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Emili & Marcotte labs |
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Details of SKIV2L gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SKIV2L | DDX13,SKI2W,SKIV2,W | Q15477 | SKIV2_HUMAN | 6499 | ENSG00000204351 ENSG00000232616 ENSG00000225737 ENSG00000228896 ENSG00000206353 ENSG00000223493 | Helicase SKI2W | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Trichohepatoenteric syndrome 2 (THES2) [MIM:614602]: A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614602 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Skiv2l | tst | skih-2 | Sp-Skiv2l |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
SKIV2L | TLN1 | 0.03972063 | SKIV2L | TLN1 | cpx398 | no | no | no | Novel |
SKIV2L | TTC37 | 0.942203992 | SKIV2L | TTC37 | cpx398 | yes | yes | yes | Known |