Tumor suppressor activity of SMARCB1 (WP4204)

Homo sapiens

SMARCB1 is a core subunit proteins of the SWI/SNF chromatin remodeling complex, which interact with transcription factors at promoters and enhancers to modulate gene expression. Renal medullary carcinomas have been found to be deficient in SMARCB1 (BAF47) due to mutations. This pathway represents a summary of target genes and pathways implicated in the tumor suppression activity of SMARCB1. This pathway is modeled after figure 2 of "Oncogenic roles of SMARCB1/INI1 and its deficient tumors" by Kohashi and Oda, https://www.ncbi.nlm.nih.gov/pubmed/28109176. Inactivating mutation of SMARCB1 in renal medullary carcinoma is indicated. Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP4204 CPTAC Assay Portal]


Kristina Hanspers , Friederike Ehrhart , Agustin Gonzalez-Vicente , and Egon Willighagen


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Homo sapiens


CPTAC Renal Genomics Pathways


Disease Ontology

renal carcinoma

Pathway Ontology

renal cell carcinoma pathway SWI/SNF family mediated chromatin remodeling pathway cancer pathway


Label Type Compact URI Comment
RBBP4 GeneProduct ensembl:ENSG00000162521
DPF1 GeneProduct ensembl:ENSG00000011332
PTCH1 GeneProduct ensembl:ENSG00000185920
SMARCC2 GeneProduct ensembl:ENSG00000139613
SMARCB1 GeneProduct ensembl:ENSG00000099956
ARID1A GeneProduct ensembl:ENSG00000117713
SMARCA4 GeneProduct ensembl:ENSG00000127616
RB1 GeneProduct ensembl:ENSG00000139687
SMARCC1 GeneProduct ensembl:ENSG00000173473
SMO GeneProduct ensembl:ENSG00000128602
GLI1 GeneProduct ensembl:ENSG00000111087
GLI2 GeneProduct ensembl:ENSG00000074047
GLI3 GeneProduct ensembl:ENSG00000106571
GLI4 GeneProduct ensembl:ENSG00000250571
SUZ12 GeneProduct ensembl:ENSG00000178691
EED GeneProduct ensembl:ENSG00000074266
EZH2 GeneProduct ensembl:ENSG00000106462
H3F3B GeneProduct ensembl:ENSG00000132475
H3F3A GeneProduct ensembl:ENSG00000163041
CDKN2A GeneProduct ensembl:ENSG00000147889
CDK4 GeneProduct ensembl:ENSG00000135446
CDK6 GeneProduct ensembl:ENSG00000105810
ACTL6A GeneProduct ensembl:ENSG00000136518
ACTL6B GeneProduct ensembl:ENSG00000077080
DPF2 GeneProduct ensembl:ENSG00000133884
DPF3 GeneProduct ensembl:ENSG00000205683
SMARCE1 GeneProduct ensembl:ENSG00000073584
SMARCD1 GeneProduct ensembl:ENSG00000066117
SMARCD2 GeneProduct ensembl:ENSG00000108604
SMARCD3 GeneProduct ensembl:ENSG00000082014
ARID1B GeneProduct ensembl:ENSG00000049618


  1. Epigenetic antagonism between polycomb and SWI/SNF complexes during oncogenic transformation. Wilson BG, Wang X, Shen X, McKenna ES, Lemieux ME, Cho YJ, et al. Cancer Cell. 2010 Oct 19;18(4):316–28. PubMed Europe PMC Scholia
  2. Loss of the tumor suppressor Snf5 leads to aberrant activation of the Hedgehog-Gli pathway. Jagani Z, Mora-Blanco EL, Sansam CG, McKenna ES, Wilson B, Chen D, et al. Nat Med. 2010 Dec;16(12):1429–33. PubMed Europe PMC Scholia
  3. Activation of β-catenin/TCF targets following loss of the tumor suppressor SNF5. Mora-Blanco EL, Mishina Y, Tillman EJ, Cho YJ, Thom CS, Pomeroy SL, et al. Oncogene. 2014 Feb 13;33(7):933–8. PubMed Europe PMC Scholia
  4. Molecular pathways: SWI/SNF (BAF) complexes are frequently mutated in cancer--mechanisms and potential therapeutic insights. Wang X, Haswell JR, Roberts CWM. Clin Cancer Res. 2014 Jan 1;20(1):21–7. PubMed Europe PMC Scholia
  5. Oncogenic roles of SMARCB1/INI1 and its deficient tumors. Kohashi K, Oda Y. Cancer Sci. 2017 Apr;108(4):547–52. PubMed Europe PMC Scholia