Metazoan complexes |
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Emili & Marcotte labs |
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Details of WBSCR22 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| WBSCR22 | --- | O43709 | WBS22_HUMAN | 114049 | ENSG00000071462 ENSG00000262030 | Uncharacterized methyltransferase WBSCR22 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Note=WBSCR22 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of WBSCR22 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease. | 194050 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Wbscr22 | CG10903 | C27F2.4 | SPU_023215 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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