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 |
|---|---|---|---|---|---|
| SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 | MIM:603254 | Ensembl:ENSG00000127616 | HGNC:HGNC:11100 | PA35950 | 19p13.2 |
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 |
| MF | NAS | GO:0003713 | transcription coactivator activity |
| MF | IDA | GO:0003714 | transcription corepressor activity |
| MF | IEA | GO:0003723 | RNA binding |
| MF | IEA | GO:0004386 | helicase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0005524 | ATP binding |
| MF | IGI | GO:0008094 | DNA-dependent ATPase activity |
| MF | IPI | GO:0008134 | transcription factor binding |
| MF | IPI | GO:0030957 | Tat protein binding |
| MF | HDA | GO:0031492 | nucleosomal DNA binding |
| MF | IPI | GO:0047485 | protein N-terminus binding |
| MF | IPI | GO:0050681 | androgen receptor binding |
| MF | IPI | GO:0070182 | DNA polymerase binding |
| MF | IDA | GO:0070577 | lysine-acetylated histone binding |
| CC | HDA | GO:0000790 | nuclear chromatin |
| CC | IDA | GO:0000790 | nuclear chromatin |
| CC | HDA | GO:0005615 | extracellular space |
| CC | IDA | GO:0005634 | nucleus |
| CC | TAS | GO:0005654 | nucleoplasm |
| CC | IDA | GO:0005730 | nucleolus |
| CC | HDA | GO:0016020 | membrane |
| CC | IDA | GO:0016514 | SWI/SNF complex |
| CC | HDA | GO:0032991 | protein-containing complex |
| CC | IDA | GO:0071564 | npBAF complex |
| CC | ISS | GO:0071564 | npBAF complex |
| CC | ISS | GO:0071565 | nBAF complex |
| BP | TAS | GO:0000122 | negative regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0001188 | RNA polymerase I transcriptional preinitiation complex assembly |
| BP | IEP | GO:0003407 | neural retina development |
| BP | TAS | GO:0006325 | chromatin organization |
| BP | IDA | GO:0006337 | nucleosome disassembly |
| BP | IC | GO:0006338 | chromatin remodeling |
| BP | IDA | GO:0006338 | chromatin remodeling |
| BP | IMP | GO:0006338 | chromatin remodeling |
| BP | NAS | GO:0006357 | regulation of transcription by RNA polymerase II |
| BP | IEA | GO:0007399 | nervous system development |
| BP | IMP | GO:0030177 | positive regulation of Wnt signaling pathway |
| BP | IMP | GO:0030308 | negative regulation of cell growth |
| BP | TAS | GO:0038111 | interleukin-7-mediated signaling pathway |
| BP | HDA | GO:0043044 | ATP-dependent chromatin remodeling |
| BP | IMP | GO:0043923 | positive regulation by host of viral transcription |
| BP | IDA | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IMP | GO:0045892 | negative regulation of transcription, DNA-templated |
| BP | IMP | GO:0045893 | positive regulation of transcription, DNA-templated |
| BP | IDA | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IGI | GO:0045944 | positive regulation of transcription by RNA polymerase II |
| BP | IDA | GO:0051091 | positive regulation of DNA-binding transcription factor activity |
| BP | IMP | GO:0060766 | negative regulation of androgen receptor signaling pathway |
| BP | IMP | GO:1901838 | positive regulation of transcription of nucleolar large rRNA by RNA polymerase I |
| BP | IDA | GO:1902661 | positive regulation of glucose mediated signaling pathway |
| BP | IMP | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II |
| BP | TAS | GO:1904837 | beta-catenin-TCF complex assembly |
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) |
| pid | betacatenin_nuc_pathway | Regulation of nuclear beta catenin signaling and target gene transcription |
| pid | erb_genomic_pathway | Validated nuclear estrogen receptor beta network |
| pid | p53downstreampathway | Direct p53 effectors |
| pid | rb_1pathway | Regulation of retinoblastoma protein |
| pid | reg_gr_pathway | Glucocorticoid receptor regulatory network |
| netpath | Pathway_TNFalpha | TNFalpha |
| biocarta | hswisnfpathway | chromatin remodeling by hswi/snf atp-dependent complexes |
| biocarta | pcafpathway | the information processing pathway at the ifn beta enhancer |
| reactome | R-HSA-1266695 | Interleukin-7 signaling |
| reactome | R-HSA-1280215 | Cytokine Signaling in Immune system |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-195721 | Signaling by WNT |
| reactome | R-HSA-201681 | TCF dependent signaling in response to WNT |
| reactome | R-HSA-201722 | Formation of the beta-catenin:TCF transactivating complex |
| reactome | R-HSA-212436 | Generic Transcription Pathway |
| reactome | R-HSA-3214858 | RMTs methylate histone arginines |
| reactome | R-HSA-3247509 | Chromatin modifying enzymes |
| reactome | R-HSA-449147 | Signaling by Interleukins |
| reactome | R-HSA-4839726 | Chromatin organization |
| reactome | R-HSA-73857 | RNA Polymerase II Transcription |
| reactome | R-HSA-74160 | Gene expression (Transcription) |
| reactome | R-HSA-8878171 | Transcriptional regulation by RUNX1 |
| reactome | R-HSA-8939243 | RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD356 | PNU-74654 | 1 |
| iGMDRD190 | Nilotinib | 1 |
| iGMDRD146 | Elesclomol | 1 |
| iGMDRD888 | Compound 44 | 3 |
| iGMDRD399 | Selumetinib | 1 |
| iGMDRD188 | Piperlongumine | 3 |
| iGMDRD133 | Lapatinib | 1 |
| iGMDRD593 | CX-5461 | 1 |
| iGMDRD187 | BRD9876 | 1 |
| iGMDRD52 | Rotenone | 2 |
| iGMDRD294 | Batimastat | 1 |
| iGMDRD801 | 2,4-dideoxy-DC-45-A2 | 2 |
| iGMDRD1019 | TL-2-105 | 1 |
| iGMDRD284 | Palbociclib | 1 |
| iGMDRD474 | Avrainvillamide | 3 |
| iGMDRD159 | 3-Chloro-L-alanine | 2 |
| iGMDRD394 | BX-795 | 2 |
| iGMDRD152 | 179324-69-7 | 5 |
| iGMDRD748 | PHA-665752 | 1 |
| iGMDRD61 | Kinetin riboside | 8 |
| iGMDRD316 | N9-Isopropyl-olomoucine | 1 |
| iGMDRD670 | ML 210 | 1 |
| iGMDRD546 | BMS-754807 | 1 |
| iGMDRD476 | WH-4-023 | 1 |
| iGMDRD427 | ABT737 | 8 |
| iGMDRD749 | ZINC6718453 | 1 |
| iGMDRD420 | Leucascandrolide A | 1 |
| iGMDRD889 | Compound 7d-cis | 2 |
| iGMDRD409 | Saracatinib | 1 |
| iGMDRD126 | Tipifarnib | 3 |
| iGMDRD662 | JQ-1 | 2 |
| iGMDRD286 | Nsc 632839 | 3 |
| iGMDRD871 | BRD6368 | 6 |
| iGMDRD705 | Nakiterpiosin | 4 |
| iGMDRD402 | AKT Inhibitor VIII | 1 |
| iGMDRD293 | Bleomycin | 3 |
| iGMDRD121 | GMX1778 | 3 |
| iGMDRD137 | Indisulam | 2 |
| iGMDRD883 | CIL55A | 2 |
| iGMDRD605 | AZD6482 | 1 |
| iGMDRD123 | Isoevodiamine | 1 |
| iGMDRD698 | Neratinib | 2 |
| iGMDRD352 | PD-0325901 | 1 |
| iGMDRD775 | NCGC00346967-01 | 1 |
| iGMDRD49 | Mitomycin | 1 |
| iGMDRD341 | Triacsin c | 6 |
| iGMDRD79 | Gemcitabine | 2 |
| iGMDRD405 | PIK-75 | 2 |
| iGMDRD560 | MK-2206 | 2 |
| iGMDRD584 | VER 155008 | 3 |
| iGMDRD719 | IOX2 | 1 |
| iGMDRD330 | BRD4132 | 1 |
| iGMDRD451 | Serdemetan | 3 |
| iGMDRD131 | Erlotinib | 1 |
| iGMDRD364 | CP-724714 | 1 |
| iGMDRD562 | Navitoclax | 2 |
| iGMDRD577 | BIX01294 | 5 |
| iGMDRD185 | DMOG | 1 |
| iGMDRD100 | Zebularine | 2 |
| iGMDRD870 | BRD63610 | 1 |
| iGMDRD309 | 17AAG | 2 |
| iGMDRD574 | Ruxolitinib | 1 |
| iGMDRD441 | TW 37 | 1 |
| iGMDRD440 | Nutlin-3A | 1 |
| iGMDRD885 | Compound 110 | 1 |
| iGMDRD782 | DC-45-A2 | 1 |
| iGMDRD134 | Sorafenib | 1 |
| iGMDRD33 | Entinostat | 1 |
| iGMDRD907 | EZH2 inhibitor | 3 |
| iGMDRD491 | TAE-684 | 1 |
| iGMDRD298 | L-685458 | 1 |
| iGMDRD130 | Enzastaurin | 1 |
| iGMDRD634 | SCHEMBL2608041 | 2 |
| iGMDRD280 | CYTOCHALASIN B | 5 |
| iGMDRD297 | Austocystin D | 6 |
| iGMDRD686 | PF4708671 | 1 |
| iGMDRD281 | Vinorelbine base | 1 |
| iGMDRD498 | GW441756X | 1 |
| iGMDRD494 | Neopeltolide | 1 |
| iGMDRD462 | OSI-906 (Linsitinib) | 1 |
| iGMDRD144 | NSC95397 | 8 |
| iGMDRD772 | BRD4770 | 1 |
| iGMDRD599 | Salermide | 1 |
| iGMDRD313 | Axitinib | 1 |
| iGMDRD210 | AC55649 | 3 |
| iGMDRD136 | Nutlin-3 | 1 |
| iGMDRD695 | FR-180204 | 1 |
| iGMDRD384 | EHT-1864 | 1 |
| iGMDRD886 | Compound 1541A | 2 |
| iGMDRD505 | Pevonedistat | 5 |
| iGMDRD269 | Purmorphamine | 2 |
| iGMDRD872 | BRD7137 | 4 |
| iGMDRD414 | MST-312 | 6 |
| iGMDRD68 | Paclitaxel | 1 |
| iGMDRD481 | Dactolisib | 2 |
| iGMDRD192 | CIL56 | 1 |
| iGMDRD434 | BMS-536924 | 4 |
| iGMDRD139 | Fumagillol | 1 |
| iGMDRD132 | (-)-gallocatechin-3-O-gallate | 5 |
| iGMDRD901 | ELCPK | 2 |
| iGMDRD536 | PLX-4720 | 1 |
| iGMDRD57 | Chloropentafluorobenzene | 6 |
| iGMDRD85 | Ursolic acid | 2 |
| iGMDRD701 | NVP-AUY922 | 1 |
| iGMDRD160 | Cis-Platin | 1 |
| iGMDRD424 | Tamatinib | 2 |
| iGMDRD456 | Crizotinib | 1 |
| iGMDRD148 | Pifithrin-mu | 1 |
| iGMDRD512 | nutlin 3 | 5 |
| iGMDRD347 | Y-39983 | 1 |
| iGMDRD792 | Cetuximab | 1 |
| iGMDRD486 | Tosedostat | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in SMARCA4
CLASSFICATION
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