SMARCA2

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the SMARCA2 gene.[5][6]

PDBOrtholog search: PDBe RCSB
AliasesSMARCA2, BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2, BIS
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SMARCA2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSMARCA2, BAF190, BRM, NCBRS, SNF2, SNF2L2, SNF2LA, SWI2, Sth1p, hBRM, hSNF2a, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2, BIS
External IDsOMIM: 600014; MGI: 99603; HomoloGene: 2308; GeneCards: SMARCA2; OMA:SMARCA2 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_011416
NM_026003
NM_001347439

RefSeq (protein)
Location (UCSC)Chr 9: 1.98 – 2.19 MbChr 19: 26.58 – 26.76 Mb
PubMed search[3][4]
Wikidata
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Function

The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly 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. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism.[6]

Interactions

SMARCA2 has been shown to interact with:

- Nicolaides Baraitser Syndrome (NCBRS)

References

Further reading

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