Metazoan complexes |
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Emili & Marcotte labs |
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Details of CIITA gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| CIITA | MHC2TA | P33076 | C2TA_HUMAN | 4261 | ENSG00000179583 | MHC class II transactivator | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Bare lymphocyte syndrome 2 (BLS2) [MIM:209920]: A severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon- gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections. Note=The disease is caused by mutations affecting the gene represented in this entry. | 209920 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Ciita | --- | --- | --- |
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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