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SMARCA2

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From Wikipedia, the free encyclopedia

Protein-coding gene in the species Homo sapiens

SMARCA2

Available structures

PDB

Ortholog search:PDBe RCSB

List of PDB id codes
2DAT,5DKC,4QY4

Identifiers

Aliases

SMARCA2, 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 IDs

OMIM:600014;MGI:99603;HomoloGene:2308;GeneCards:SMARCA2;OMA:SMARCA2 - orthologs

Gene location (Human)

Chr.	Chromosome 9 (human)^[1]

Band	9p24.3	Start	1,980,290bp^[1]
Band	9p24.3	End	2,193,624bp^[1]

Gene location (Mouse)

Chr.	Chromosome 19 (mouse)^[2]

Band	19 C1\|19 21.17 cM	Start	26,582,450bp^[2]
Band	19 C1\|19 21.17 cM	End	26,755,722bp^[2]

RNA expression pattern

Bgee

Human

Mouse (ortholog)

Top expressed in

Achilles tendon

epithelium of colon

left ovary

ventricular zone

sural nerve

right ovary

secondary oocyte

olfactory zone of nasal mucosa

germinal epithelium

epithelium of nasopharynx

Top expressed in

neural layer of retina

lateral septal nucleus

cingulate gyrus

dentate gyrus of hippocampal formation granule cell

dorsomedial hypothalamic nucleus

cerebellar cortex

superior frontal gyrus

genital tubercle

lobe of cerebellum

cerebellar vermis

More reference expression data

BioGPS


More reference expression data

Gene ontology
Molecular function	nucleotide binding transcription coactivator activity DNA binding ATP-dependent activity, acting on DNA helicase activity histone binding chromatin binding hydrolase activity, acting on acid anhydrides protein binding hydrolase activity ATP binding ATPase activity
Cellular component	nBAF complex intracellular membrane-bounded organelle nucleoplasm npBAF complex intermediate filament cytoskeleton nucleus SWI/SNF complex
Biological process	chromatin remodeling regulation of transcription, DNA-templated regulation of transcription by RNA polymerase II negative regulation of transcription by RNA polymerase II transcription, DNA-templated nervous system development positive regulation of transcription, DNA-templated negative regulation of cell growth spermatid development negative regulation of transcription, DNA-templated positive regulation of transcription by RNA polymerase II negative regulation of cell population proliferation transcription by RNA polymerase II
Sources:Amigo /QuickGO

Orthologs

Species

Human

Mouse

Entrez


6595


67155

Ensembl


ENSG00000080503


ENSMUSG00000024921

UniProt


P51531


Q6DIC0

RefSeq (mRNA)

NM_139045 NM_001289396 NM_001289397 NM_001289398 NM_001289399
NM_001289400 NM_003070


NM_011416 NM_026003 NM_001347439

RefSeq (protein)

NP_001276325 NP_001276326 NP_001276327 NP_001276328 NP_001276329
NP_003061 NP_620614

NP_001334368 NP_035546 NP_080279 NP_001392059 NP_001392060
NP_001392061 NP_001392062 NP_001392063 NP_001392064 NP_001392065

Location (UCSC)

Chr 9: 1.98 – 2.19 Mb

Chr 19: 26.58 – 26.76 Mb

PubMed search

^[3]

^[4]

Wikidata

View/Edit Human

View/Edit Mouse

Probable global transcription activator SNF2L2 is aprotein that in humans is encoded by theSMARCA2gene.^[5]^[6]

Function

[edit]

The protein encoded by this gene is a member of theSWI/SNF family of proteins and is highly similar to thebrahma protein ofDrosophila. Members of this family havehelicase andATPase activities and are thought to regulatetranscription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the largeATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed bychromatin. Two transcript variants encoding differentisoforms have been found for this gene, which contains a trinucleotide repeat (CAG) lengthpolymorphism.^[6]

Interactions

[edit]

SMARCA2 has been shown tointeract with:

- Nicolaides Baraitser Syndrome (NCBRS)

References

[edit]

^^a ^b ^cGRCh38: Ensembl release 89: ENSG00000080503 –Ensembl, May 2017
^^a ^b ^cGRCm38: Ensembl release 89: ENSMUSG00000024921 –Ensembl, May 2017
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Muchardt C, Yaniv M, Mattei MG (Apr 1994). "Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SWI2 and Drosophila brm genes, to chromosome region 9p23-p24, by in situ hybridization".Mammalian Genome.5 (4):241–3.doi:10.1007/BF00360554.PMID 8012116.S2CID 43436716.
^^a ^b"Entrez Gene: SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2".
^^a ^b ^c ^dWang W, Côté J, Xue Y, Zhou S, Khavari PA, Biggar SR, Muchardt C, Kalpana GV, Goff SP, Yaniv M, Workman JL, Crabtree GR (Oct 1996)."Purification and biochemical heterogeneity of the mammalian SWI-SNF complex".The EMBO Journal.15 (19):5370–82.doi:10.1002/j.1460-2075.1996.tb00921.x.PMC 452280.PMID 8895581.
^Park J, Wood MA, Cole MD (Mar 2002)."BAF53 forms distinct nuclear complexes and functions as a critical c-Myc-interacting nuclear cofactor for oncogenic transformation".Molecular and Cellular Biology.22 (5):1307–16.doi:10.1128/mcb.22.5.1307-1316.2002.PMC 134713.PMID 11839798.
^Kuroda Y, Oma Y, Nishimori K, Ohta T, Harata M (Nov 2002). "Brain-specific expression of the nuclear actin-related protein ArpNalpha and its involvement in mammalian SWI/SNF chromatin remodeling complex".Biochemical and Biophysical Research Communications.299 (2):328–34.doi:10.1016/s0006-291x(02)02637-2.PMID 12437990.
^Inoue H, Furukawa T, Giannakopoulos S, Zhou S, King DS, Tanese N (Nov 2002)."Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors".The Journal of Biological Chemistry.277 (44):41674–85.doi:10.1074/jbc.M205961200.PMID 12200431.
^Kowenz-Leutz E, Leutz A (Nov 1999)."A C/EBP beta isoform recruits the SWI/SNF complex to activate myeloid genes".Molecular Cell.4 (5):735–43.doi:10.1016/s1097-2765(00)80384-6.PMID 10619021.
^^a ^b ^c ^dSif S, Saurin AJ, Imbalzano AN, Kingston RE (Mar 2001)."Purification and characterization of mSin3A-containing Brg1 and hBrm chromatin remodeling complexes".Genes & Development.15 (5):603–18.doi:10.1101/gad.872801.PMC 312641.PMID 11238380.
^Cho H, Orphanides G, Sun X, Yang XJ, Ogryzko V, Lees E, Nakatani Y, Reinberg D (Sep 1998)."A human RNA polymerase II complex containing factors that modify chromatin structure".Molecular and Cellular Biology.18 (9):5355–63.doi:10.1128/MCB.18.9.5355.PMC 109120.PMID 9710619.
^Wang S, Zhang B, Faller DV (Jun 2002)."Prohibitin requires Brg-1 and Brm for the repression of E2F and cell growth".The EMBO Journal.21 (12):3019–28.doi:10.1093/emboj/cdf302.PMC 126057.PMID 12065415.
^Perani M, Ingram CJ, Cooper CS, Garrett MD, Goodwin GH (Nov 2003)."Conserved SNH domain of the proto-oncoprotein SYT interacts with components of the human chromatin remodelling complexes, while the QPGY repeat domain forms homo-oligomers".Oncogene.22 (50):8156–67.doi:10.1038/sj.onc.1207031.PMID 14603256.

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Function

Interactions

References

Further reading