SMARCA4
Summary: The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
NameSWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 OMIM IDMIM:603254 Ensembl IDEnsembl:ENSG00000127616 HGNC IDHGNC:HGNC:11100 PHARMGKB IDPA35950 Map Location19p13.2 | |||||
GO terms in SMARCA4
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | HDA | GO:0000978 | RNA polymerase II proximal promoter sequence-specific DNA binding |
| MF | HDA | GO:0000980 | RNA polymerase II distal enhancer sequence-specific DNA binding |
| MF | IDA | GO:0001164 | RNA polymerase I CORE element sequence-specific DNA binding |
| MF | IPI | GO:0002039 | p53 binding |
| MF | IDA | GO:0003713 | transcription coactivator activity |
| MF | IMP | GO:0003713 | transcription coactivator activity |
Gene expression in normal tissue: SMARCA4
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in SMARCA4
Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2263 | Androgen Receptor Network in Prostate Cancer |
| wikipathways | WP3527 | Preimplantation Embryo |
| wikipathways | WP3657 | Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex |
| wikipathways | WP4204 | Tumor suppressor activity of SMARCB1 |
| kegg | hsa04714 | Thermogenesis - Homo sapiens (human) |
| kegg | hsa05225 | Hepatocellular carcinoma - Homo sapiens (human) |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMARCA4
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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