SMARCC2
Identifiers
AliasesSMARCC2, BAF170, CRACC2, Rsc8, SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2, CSS8
External IDsOMIM: 601734; MGI: 1915344; HomoloGene: 2312; GeneCards: SMARCC2; OMA:SMARCC2 - orthologs
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 MbChr 10: 128.3 – 128.33 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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

Function

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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

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

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000139613Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025369Ensembl, 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. ^ a b "Entrez Gene: SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2".
  8. ^ 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.
  9. ^ 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. 10 (23). England: 2651–60. doi:10.1093/hmg/10.23.2651. ISSN 0964-6906. PMID 11726552.
  10. ^ 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

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📚 Artikel Terkait di Wikipedia

Coffin–Siris syndrome

syndrome, including SOX11, ARID2, DPF2, PHF6, SMARCA2, SMARCA4, SMARCB1, SMARCC2, SMARCE1, SOX4. The diagnosis is generally based on the presence of major

SWI/SNF

SMARCA2, SMARCA4 BRM ATP dependent chromatin remodeling SWI3 SMARCC1, SMARCC2 Moira/BAP155 Similar sequence; function unknown SWP73/SNF12 SMARCD1, SMARCD2

SMARCA4

HSP90B1, ING1, Myc, NR3C1, P53, POLR2A, PHB, SIN3A, SMARCB1, SMARCC1, SMARCC2, SMARCE1, STAT2, and STK11. GRCh38: Ensembl release 89: ENSG00000127616

List of human protein-coding genes 7

15306 SMARCB1 HGNC:11103; Q12824 15307 SMARCC1 HGNC:11104; Q92922 15308 SMARCC2 HGNC:11105; Q8TAQ2 15309 SMARCD1 HGNC:11106; Q96GM5 15310 SMARCD2 HGNC:11107;