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See searches and references containing SMARCB1!SMARCB1
Protein-coding gene in the species Homo sapiens
chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene. The protein encoded by this gene is part of a complex that relieves
SMARCB1
Three genetic disorders involving benign tumors of the nervous system
on two different genes. The normal function of the SMARCB1 gene is to encode a protein called SMARCB1 that is part of a larger protein complex whose function
Neurofibromatosis
Rare genetic disorder
weakness, and hearing loss. The candidate schwannomatosis gene, named SMARCB1, is a tumor suppressor gene that regulates cell cycle, growth and differentiation
Schwannomatosis
Medical condition
including rhabdoid tumors and choroid plexus carcinoma. A germline mutation (SMARCB1) was found in both affected and some unaffected family members. Two sisters
Atypical teratoid rhabdoid tumor
Atypical_teratoid_rhabdoid_tumor
Chromatin remodeling complex
mutations in ARID1A, and renal medullary carcinomas characterized by loss of SMARCB1. Additionally, both diffuse large B-cell lymphoma (DLBCL) and Burkitt lymphoma
Mammalian SWI/SNF (BAF) complex
Mammalian_SWI/SNF_(BAF)_complex
Subfamily of ATP-dependent chromatin remodeling complexes
Hodgkin's lymphoma, respectively. To prove that BAF47, also known as SMARCB1, acts as a tumor suppressor, experiments resulting in the formation of
SWI/SNF
Medical condition
matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) located on the long arm of chromosome 22 (22q11) and transcription activator
Malignant_rhabdoid_tumour
Medical condition
mutation (found in 80-90% of epithelioid sarcomas) is the inactivation of the SMARCB1 gene, or the loss of protein INI1 function,. Epithelioid sarcoma typically
Epithelioid_sarcoma
Cancer affecting the kidneys
sickle cell disease Diagnostic method histology and immunohistochemistry (SMARCB1 loss) Differential diagnosis other forms of kidney cancer Prognosis poor
Renal_medullary_carcinoma
Medical condition
to this syndrome, including SOX11, ARID2, DPF2, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4. The diagnosis is generally based on the presence
Coffin–Siris_syndrome
American soccer player (2004–2025)
Seattle Rhodies FC in the USL W League. Hamant was diagnosed with stage 4 SMARCB1-deficient kidney cancer in April 2025, "only the 14th documented case"
Mia_Hamant
Mammalian protein found in humans
RCHY1, RELA, Reprimo[citation needed] RPA1, RPL11, S100B, SUMO1, SMARCA4, SMARCB1, SMN1, STAT3, TBP, TFAP2A, TFDP1, TIGAR, TOP1, TOP2A, TP53BP1, TP53BP2
P53
Form of dynamic modification
knock-out studies strongly support SMARCB1 as a tumor suppressor protein. Since the original observation of SMARCB1 mutations in rhabdoid tumors, several
Chromatin_remodeling
Medical condition
22q11.2 distal deletion syndrome. Very distal deletions including the SMARCB1 gene are associated with an increased risk of malignant rhabdoid tumors
22q11.2 distal deletion syndrome
22q11.2_distal_deletion_syndrome
Gene known for its role in breast cancer
PPP1CA Rad50 RAD51 RBBP4 RBBP7 RBBP8 RELA RB1 RBL1 RBL2 RPL31 SMARCA4 SMARCB1 STAT1 TOPBP1 UBE2D1 USF2 VCP XIST ZNF350 GRCh38: Ensembl release 89: ENSG00000012048
BRCA1
Family of regulator genes
MYCBP NMI NFYB NFYC P73 PCAF PFDN5 RuvB-like 1 SAP130 SMAD2 SMAD3 SMARCA4 SMARCB1 SUPT3H TIAM1 TADA2L TAF9 TFAP2A TRRAP WDR5 YY1 and ZBTB17. C2orf16 Myc-tag
Myc
the pineal region 4.5 Desmoplastic myxoid tumour of the pineal region, SMARCB1-mutant 5.1 Schwannoma 5.2 Neurofibroma 5.3 Perineurioma 5.4 Hybrid nerve
WHO classification of tumours of the central nervous system
WHO_classification_of_tumours_of_the_central_nervous_system
Protein-coding gene in the species Homo sapiens
MED26, PCAF, POLR2C, POLR2E, POLR2H, POLR2L, PQBP1, SMARCA2, SMARCA4 SMARCB1, SMYD3, SND1, SUPT5H, TAF11, TBP, TCEA1, TCERG1, and ZNF74. ENSG00000181222
POLR2A
Protein-coding gene in humans
from some types of liver damage. ARID1A interacts with SWI/SNF subunits SMARCB1 and SMARCA4. Intrinsically disordered regions of ARID1A enable the SWI/SNF
ARID1A
Protein found in humans
has been shown to interact with: BAG1 LYN, MLL, PPP1CA, PPP1CB, PPP1CC, SMARCB1, and TSN. GRCh38: Ensembl release 89: ENSG00000087074 – Ensembl, May 2017
PPP1R15A
Digital information reflecting an individual's karyotype
difficult and misclassifications can occur. In these tumors, the INI1 gene (SMARCB1)on chromosome 22q functions as a classic tumor suppressor gene. Inactivation
Virtual_karyotype
15304 SMARCAD1 HGNC:18398; Q9H4L7 15305 SMARCAL1 HGNC:11102; Q9NZC9 15306 SMARCB1 HGNC:11103; Q12824 15307 SMARCC1 HGNC:11104; Q92922 15308 SMARCC2 HGNC:11105;
List of human protein-coding genes 7
List_of_human_protein-coding_genes_7
Protein found in humans
interact with: APC, CDKN1B, CIITA, NMD3, Nucleoporin 62, RANBP1, RANBP3, Ran, SMARCB1, and p53. Karyopherin Importin Nuclear transport Nuclear export signal
XPO1
Protein-coding gene in the species Homo sapiens
CCNE1, ESR1, FANCA, HSP90B1, ING1, Myc, NR3C1, P53, POLR2A, PHB, SIN3A, SMARCB1, SMARCC1, SMARCC2, SMARCE1, STAT2, and STK11. GRCh38: Ensembl release 89:
SMARCA4
Medical condition
expressing only one of them. The tumor cells often express vimentin and SMARCB1 (also termed INI-1 and SNF5) proteins but typically fail to express CD34
Low-grade myofibroblastic sarcoma
Low-grade_myofibroblastic_sarcoma
Part of the [[exocrine gland]] ductal system in salivary glands
in PLAG1-intact and HMGA2-intact Cases, and Occasional TP53, FBXW7, and SMARCB1 Alterations in High-grade Cases". American Journal of Surgical Pathology
Epithelial-myoepithelial carcinoma
Epithelial-myoepithelial_carcinoma
Protein-coding gene in the species Homo sapiens
ME, Bello MJ, de Campos JM, et al. (2005). "No evidence of INI1hSNF5 (SMARCB1) and PARVG point mutations in oligodendroglial neoplasms". Cancer Genet
PARVG
French researcher, oncologist
Pediatric Oncology – the MOSCATO-01 Experience // Characterization of SMARCB1-Altered Soft Tissue Sarcomas in Response to Pharmacological HDAC Inhibition"
Sophie_Postel-Vinay
Protein-coding gene in the species Homo sapiens
encoded by the PPP1CC gene. PPP1CC has been shown to interact with PPP1R15A, SMARCB1, TLX1 and PPP1R9B. GRCh38: Ensembl release 89: ENSG00000186298 – Ensembl
PPP1CC
Protein-coding gene in the species Homo sapiens
shown to interact with: ACTL6A, ARID1B, CEBPB, POLR2A, Prohibitin, SIN3A, SMARCB1, SMARCC1, and SS18. - Nicolaides Baraitser Syndrome (NCBRS) GRCh38: Ensembl
SMARCA2
Protein-coding gene in the species Homo sapiens
(PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1, SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A
PBRM1
Human gene
tag for epigenetic transcriptional repression, acting as a coactivator. SMARCB1 SWI/SNF related BAF chromatin remodeling complex subunit B1 An ATP- dependent
C17orf58
Protein-coding gene in the species Homo sapiens
observed. PPP1CB has been shown to interact with PPP1R15A, Nucleolin, SMARCB1 and PPP1R9B. GRCh38: Ensembl release 89: ENSG00000213639 – Ensembl, May
PPP1CB
Protein-coding gene in the species Homo sapiens
sarcoma. SS18 has been shown to interact with: EP300, MLLT10, SMARCA2, and SMARCB1. GRCh38: Ensembl release 89: ENSG00000141380 – Ensembl, May 2017 GRCm38:
SS18
Enzyme
KvLQT1, LMTK2, PHACTR3, PPP1R15A, PPP1R8, PPP1R9B, Protein kinase R, and SMARCB1. GRCh38: Ensembl release 89: ENSG00000172531 – Ensembl, May 2017 GRCm38:
PPP1CA
Protein-coding gene in the species Homo sapiens
counterpart. SMARCE1 has been shown to interact with Estrogen receptor alpha, SMARCB1 and SMARCA4. GRCh38: Ensembl release 89: ENSG00000073584 – Ensembl, May
SMARCE1
Protein-coding gene in the species Homo sapiens
been shown to interact with: BAZ1B, ING1, SIN3A, SMARCA2, SMARCA4, and SMARCB1. GRCh38: Ensembl release 89: ENSG00000173473 – Ensembl, May 2017 GRCm38:
SMARCC1
Medical condition
ligation-dependent probe amplification provides a comprehensive analysis of INI1/SMARCB1 in malignant rhabdoid tumors". Clinical Cancer Research. 15 (6): 1923–30
Mesoblastic_nephroma
Protein-coding gene in the species Homo sapiens
Mendoza-Milla C, Peralta-Arrieta I, Arrieta O, et al. (March 2025). "SMARCB1-driven EGFR-GLI1 epigenetic alterations in lung cancer progression and
MEOX2
Protein-coding gene in the species Homo sapiens
MED1 MED12 MED14 MED16 MED17 MED21 MED24 MED26 MED6 Notch proteins POLR2A SMARCB1 STAT1 SREBP GRCh38: Ensembl release 89: ENSG00000132964 – Ensembl, May
Cyclin-dependent_kinase_8
Reynolds syndrome; 613471; LBR Rhabdoid predisposition syndrome 1; 609322; SMARCB1 Rhabdoid tumor predisposition syndrome 2; 613325; SMARCA4 Rhabdomyosarcoma
List_of_OMIM_disorder_codes
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