Metazoan complexes |
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Details of SMC3 gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| SMC3 | BAM,BMH,CSPG6,SMC3L1 | Q9UQE7 | SMC3_HUMAN | 9126 | ENSG00000108055 | Structural maintenance of chromosomes protein 3 | SPROT |
Disease | |||||||||
---|---|---|---|---|---|---|---|---|---|
Disease | OMIM id | ||||||||
Cornelia de Lange syndrome 3 (CDLS3) [MIM:610759]: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. Characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies. Cornelia de Lange syndrome type 3 is a mild form with absence of major structural anomalies. The phenotype in some instances approaches that of apparently non- syndromic mental retardation. Note=The disease is caused by mutations affecting the gene represented in this entry. | 610759 |
Orthologs in other species | |||||||||
---|---|---|---|---|---|---|---|---|---|
M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Smc3 | Cap | smc-3 | Sp-Bamacan |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
SMC3 | PDS5A | 1 | SMC3 | PDS5A | cpx73 | yes | yes | yes | Known |
SMC3 | RAD21 | 1 | SMC3 | RAD21 | cpx73 | yes | yes | yes | Known |
SMC1A | SMC3 | 1 | SMC1A | SMC3 | cpx73 | yes | yes | yes | Known |
PDS5B | SMC3 | 1 | PDS5B | SMC3 | cpx73 | yes | yes | yes | Known |
STAG2 | SMC3 | 1 | STAG2 | SMC3 | cpx73 | yes | yes | yes | Known |
SMC1B | SMC3 | 1 | SMC1B | SMC3 | cpx73 | no | yes | yes | Known |
SMC3 | STAG1 | 1 | SMC3 | STAG1 | cpx73 | yes | yes | yes | Known |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
---|---|---|---|---|
SMC3 | SMARCA4 | 0.086996169 | SMC3 | SMARCA4 |
SMC3 | MSH6 | 0.09041875 | SMC3 | MSH6 |
DNAJA2 | SMC3 | 0.076095148 | DNAJA2 | SMC3 |
SSB | SMC3 | 0.078726037 | SSB | SMC3 |
SMC3 | SMARCA2 | 0.073853834 | SMC3 | SMARCA2 |
SMC3 | MAPRE2 | 0.146829436 | SMC3 | MAPRE2 |
SF3B3 | SMC3 | 0.126317891 | SF3B3 | SMC3 |
SMC3 | KPNB1 | 0.174274509 | SMC3 | KPNB1 |
PLIN4 | SMC3 | 0.078738174 | PLIN4 | SMC3 |
PLK1 | SMC3 | 0.177796674 | PLK1 | SMC3 |
SMC3 | COPG1 | 0.080205923 | SMC3 | COPG1 |