SMARCC2

Last updated
SMARCC2
Identifiers
Aliases SMARCC2 , BAF170, CRACC2, Rsc8, SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2, CSS8
External IDs OMIM: 601734 MGI: 1915344 HomoloGene: 2312 GeneCards: SMARCC2
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001130420
NM_003075
NM_139067
NM_001330288

NM_001114096
NM_001114097
NM_198160
NM_001372395

RefSeq (protein)

NP_001123892
NP_001317217
NP_003066
NP_620706

NP_001107568
NP_001107569
NP_937803
NP_001359324

Location (UCSC) Chr 12: 56.16 – 56.19 Mb Chr 10: 128.46 – 128.49 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the SMARCC2 gene. [5] [6] [7]

Contents

Function

The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which 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 and contains a predicted leucine zipper motif typical of many transcription factors. Two transcript variants encoding different isoforms have been found for this gene. [7]

Interactions

SMARCC2 has been shown to interact with BAZ1B [8] and SMARCA4. [9] [10] [11]

Related Research Articles

RSC is a member of the ATP-dependent chromatin remodeler family. The activity of the RSC complex allows for chromatin to be remodeled by altering the structure of the nucleosome.

SWI/SNF

In molecular biology, SWI/SNF, is a subfamiliy of ATP-dependent chromatin remodeling complexes, which is found in eukaryotes. In other words, it is a group of proteins that associate to remodel the way DNA is packaged. This complex is composed of several proteins – products of the SWI and SNF genes, as well as other polypeptides. It possesses a DNA-stimulated ATPase activity that can destabilize histone-DNA interactions in reconstituted nucleosomes in an ATP-dependent manner, though the exact nature of this structural change is unknown. The SWI/SNF subfamily provides crucial nucleosome rearrangement, which is seen as ejection and/or sliding. The movement of nucleosomes provides easier access to the chromatin, allowing genes to be activated or repressed.

Chromatin remodeling is the dynamic modification of chromatin architecture to allow access of condensed genomic DNA to the regulatory transcription machinery proteins, and thereby control gene expression. Such remodeling is principally carried out by 1) covalent histone modifications by specific enzymes, e.g., histone acetyltransferases (HATs), deacetylases, methyltransferases, and kinases, and 2) ATP-dependent chromatin remodeling complexes which either move, eject or restructure nucleosomes. Besides actively regulating gene expression, dynamic remodeling of chromatin imparts an epigenetic regulatory role in several key biological processes, egg cells DNA replication and repair; apoptosis; chromosome segregation as well as development and pluripotency. Aberrations in chromatin remodeling proteins are found to be associated with human diseases, including cancer. Targeting chromatin remodeling pathways is currently evolving as a major therapeutic strategy in the treatment of several cancers.

POLR2A

DNA-directed RNA polymerase II subunit RPB1, also known as RPB1, is an enzyme that in humans is encoded by the POLR2A gene.

SMARCA4

Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the SMARCA4 gene.

SMARCB1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the SMARCB1 gene.

SMARCA2

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.

ACTL6A

Actin-like protein 6A is a protein that in humans is encoded by the ACTL6A gene.

ARID1A

AT-rich interactive domain-containing protein 1A is a protein that in humans is encoded by the ARID1A gene.

SMARCC1

SWI/SNF complex subunit SMARCC1 is a protein that in humans is encoded by the SMARCC1 gene.

SMARCE1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the SMARCE1 gene.

ARID1B

AT-rich interactive domain-containing protein 1B is a protein that in humans is encoded by the ARID1B gene. ARID1B is a component of the human SWI/SNF chromatin remodeling complex.

SMARCD1

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 1 is a protein that in humans is encoded by the SMARCD1 gene.

PBRM1

Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the PBRM1 gene.

SMARCD3

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3 is a protein that in humans is encoded by the SMARCD3 gene.

SMARCA1

Probable global transcription activator SNF2L1 is a protein that in humans is encoded by the SMARCA1 gene.

MLLT1

Protein ENL is a protein that in humans is encoded by the MLLT1 gene.

ACTL6B

Actin-like protein 6B is a protein that in humans is encoded by the ACTL6B gene.

SMARCD2

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 is a protein that in humans is encoded by the SMARCD2 gene.

Gerald R. Crabtree is the David Korn Professor at Stanford University and an Investigator in the Howard Hughes Medical Institute. He is known for defining the Ca2+-calcineurin-NFAT signaling pathway, pioneering the development of synthetic ligands for regulation of biologic processes and discovering chromatin regulatory mechanisms involved in cancer and brain development. He is a founder of Ariad Pharmaceuticals, Amplyx Pharmaceuticals, and Foghorn Therapeutics.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000139613 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025369 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wang W, Xue Y, Zhou S, Kuo A, Cairns BR, Crabtree GR (November 1996). "Diversity and specialization of mammalian SWI/SNF complexes". Genes Dev. 10 (17): 2117–30. doi: 10.1101/gad.10.17.2117 . PMID   8804307.
  6. Ring HZ, Vameghi-Meyers V, Wang W, Crabtree GR, Francke U (September 1998). "Five SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin (SMARC) genes are dispersed in the human genome". Genomics. 51 (1): 140–3. doi:10.1006/geno.1998.5343. PMID   9693044.
  7. 1 2 "Entrez Gene: SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2".
  8. Kitagawa H, Fujiki R, Yoshimura K, Mezaki Y, Uematsu Y, Matsui D, Ogawa S, Unno K, Okubo M, Tokita A, Nakagawa T, Ito T, Ishimi Y, Nagasawa H, Matsumoto T, Yanagisawa J, Kato S (June 2003). "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 (7): 905–17. doi: 10.1016/S0092-8674(03)00436-7 . PMID   12837248.
  9. Wang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (October 1996). "Purification and biochemical heterogeneity of the mammalian SWI-SNF complex". EMBO J. 15 (19): 5370–82. doi:10.1002/j.1460-2075.1996.tb00921.x. PMC   452280 . PMID   8895581.
  10. Otsuki T, Furukawa Y, Ikeda K, Endo H, Yamashita T, Shinohara A, Iwamatsu A, Ozawa K, Liu JM (November 2001). "Fanconi anemia protein, FANCA, associates with BRG1, a component of the human SWI/SNF complex". Hum. Mol. Genet. England. 10 (23): 2651–60. doi: 10.1093/hmg/10.23.2651 . ISSN   0964-6906. PMID   11726552.
  11. Zhao K, Wang W, Rando OJ, Xue Y, Swiderek K, Kuo A, Crabtree GR (November 1998). "Rapid and phosphoinositol-dependent binding of the SWI/SNF-like BAF complex to chromatin after T lymphocyte receptor signaling". Cell. 95 (5): 625–36. doi: 10.1016/S0092-8674(00)81633-5 . PMID   9845365. S2CID   3184211.

Further reading