Metazoan complexes |
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Emili & Marcotte labs |
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Details of AP1S2 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| AP1S2 | --- | P56377 | AP1S2_HUMAN | 8905 | ENSG00000182287 | AP-1 complex subunit sigma-2 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Mental retardation, X-linked 59 (MRX59) [MIM:300630]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non- syndromic X-linked mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. MRX59 consists of a mild-to-profound mental retardation. Other features includes hypotonia early in life and delay in walking. Note=The disease is caused by mutations affecting the gene represented in this entry. | 300630 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Ap1s2 | AP-1sigma | aps-1 | Sp-Ap1s2... |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
AP1S2 | AP1G1 | 0.980334561 | AP1S2 | AP1G1 | cpx258 | yes | yes | yes | Known |
AP1M1 | AP1S2 | 0.699409106 | AP1M1 | AP1S2 | cpx258 | yes | yes | yes | Known |