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Details of SMARCA4 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| SMARCA4 | BAF190A,BRG1,SNF2B,SNF2L4 | P51532 | SMCA4_HUMAN | 6597 | ENSG00000127616 | Transcription activator BRG1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Rhabdoid tumor predisposition syndrome 2 (RTPS2) [MIM:613325]: A familial cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors. Rhabdoid tumors are the most aggressive and lethal malignancies occurring in early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613325 | Mental retardation, autosomal dominant 16 (MRD16) [MIM:614609]: A disease characterized by multiple congenital anomalies and mental retardation. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD16 patients manifest developmental delay, absent or hypoplastic fifth fingernails or toenails, thick eyebrows and long eyelashes, hirsutism. Additional findings include hypotonia, microcephaly, seizures, a Dandy-Walker malformation, and vision and hearing problems. Note=The disease is caused by mutations affecting the gene represented in this entry. | 614609 | ||||||
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Smarca4 | brm | swsn-4 | Sp-Brg1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| SMARCA4 | ACTL6A | 0.64835609 | SMARCA4 | ACTL6A | cpx6 | yes | yes | yes | Known |
| SMARCA4 | DPF3 | 1 | SMARCA4 | DPF3 | cpx6 | no | yes | no | Known |
| SMARCA4 | DPF2 | 1 | SMARCA4 | DPF2 | cpx6 | yes | yes | yes | Known |
| SMARCD1 | SMARCA4 | 1 | SMARCD1 | SMARCA4 | cpx6 | yes | yes | yes | Known |
| ARID1B | SMARCA4 | 1 | ARID1B | SMARCA4 | cpx6 | yes | yes | yes | Known |
| BCL7C | SMARCA4 | 1 | BCL7C | SMARCA4 | cpx6 | no | yes | no | Known |
| SMARCD2 | SMARCA4 | 1 | SMARCD2 | SMARCA4 | cpx6 | yes | yes | yes | Known |
| ARID1A | SMARCA4 | 1 | ARID1A | SMARCA4 | cpx6 | yes | yes | yes | Known |
| SMARCD3 | SMARCA4 | 1 | SMARCD3 | SMARCA4 | cpx6 | yes | yes | yes | Known |
| BCL7A | SMARCA4 | 1 | BCL7A | SMARCA4 | cpx6 | no | yes | no | Known |
| BCL7B | SMARCA4 | 1 | BCL7B | SMARCA4 | cpx6 | no | no | no | Novel |
| SMARCE1 | SMARCA4 | 1 | SMARCE1 | SMARCA4 | cpx6 | yes | yes | yes | Known |
| SMARCA4 | SMARCC1 | 1 | SMARCA4 | SMARCC1 | cpx6 | yes | yes | yes | Known |
| SMARCA4 | SMARCC2 | 1 | SMARCA4 | SMARCC2 | cpx6 | yes | yes | yes | Known |
| SMARCA4 | SMARCB1 | 1 | SMARCA4 | SMARCB1 | cpx6 | yes | yes | yes | Known |
| SMARCA4 | SS18 | 1 | SMARCA4 | SS18 | cpx6 | no | no | no | Novel |
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
|---|---|---|---|---|
| SMC3 | SMARCA4 | 0.086996169 | SMC3 | SMARCA4 |
| NOP56 | SMARCA4 | 0.199767416 | NOP56 | SMARCA4 |
| SMARCA4 | BYSL | 0.100985317 | SMARCA4 | BYSL |
| SMARCA4 | HMGB1 | 0.115065545 | SMARCA4 | HMGB1 |
| SMARCA4 | PELO | 0.101022416 | SMARCA4 | PELO |
| SMARCA4 | MDC1 | 0.157253578 | SMARCA4 | MDC1 |
| SMARCA4 | EP400 | 0.086830755 | SMARCA4 | EP400 |
| UPF1 | SMARCA4 | 0.090598442 | UPF1 | SMARCA4 |
| POLR3A | SMARCA4 | 0.089715156 | POLR3A | SMARCA4 |
| SMARCA4 | MYO18A | 0.077240648 | SMARCA4 | MYO18A |
| GTF3C3 | SMARCA4 | 0.152919204 | GTF3C3 | SMARCA4 |
| POLR3C | SMARCA4 | 0.171330407 | POLR3C | SMARCA4 |
| POLR3F | SMARCA4 | 0.087913136 | POLR3F | SMARCA4 |