SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)

2003-02-01  

Identity

HGNC
SMARCA2
LOCATION
9p24.3
LOCUSID
6595
ALIAS
BAF190,BIS,BRM,NCBRS,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 6595
MIM: 600014
HGNC: 11098
Ensembl: ENSG00000080503

Variants:

dbSNP: 6595
ClinVar: 6595
TCGA: ENSG00000080503
COSMIC: SMARCA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000080503ENST00000302401B1ALF6
ENSG00000080503ENST00000324954F6T8Q0
ENSG00000080503ENST00000349721P51531
ENSG00000080503ENST00000357248P51531
ENSG00000080503ENST00000382183B1ALG1
ENSG00000080503ENST00000382185B4DNT1
ENSG00000080503ENST00000382186B1ALG2
ENSG00000080503ENST00000382194P51531
ENSG00000080503ENST00000382203P51531
ENSG00000080503ENST00000416751F6UH26
ENSG00000080503ENST00000417599B4DNT1
ENSG00000080503ENST00000423555F6XE55
ENSG00000080503ENST00000439732A0A0A0MT03
ENSG00000080503ENST00000450198F6VDE0
ENSG00000080503ENST00000452193A0A0A0MSS5
ENSG00000080503ENST00000457226F6RS74
ENSG00000080503ENST00000634287A0A0U1RQS1
ENSG00000080503ENST00000634338A0A0U1RR83
ENSG00000080503ENST00000634343A0A0U1RRN2
ENSG00000080503ENST00000634435A0A0U1RQX3
ENSG00000080503ENST00000634688A0A0U1RRD6
ENSG00000080503ENST00000634706A0A0U1RRF8
ENSG00000080503ENST00000634760A0A0U1RQZ9
ENSG00000080503ENST00000634772A0A0U1RRG6
ENSG00000080503ENST00000634781A0A0U1RR26
ENSG00000080503ENST00000634931B1ALG2
ENSG00000080503ENST00000634989A0A0U1RQP3
ENSG00000080503ENST00000635133A0A0U1RQU0
ENSG00000080503ENST00000635185A0A0U1RQE1
ENSG00000080503ENST00000635226A0A0U1RRJ8
ENSG00000080503ENST00000635388A0A0U1RR09
ENSG00000080503ENST00000635392A0A0U1RRF5
ENSG00000080503ENST00000635530A0A0U1RQW7
ENSG00000080503ENST00000635590A0A0U1RQP3
ENSG00000080503ENST00000635659A0A0U1RR45
ENSG00000080503ENST00000635688A0A0U1RRJ4
ENSG00000080503ENST00000636367A0A0U1RQP3
ENSG00000080503ENST00000636559A0A1B0GWA8
ENSG00000080503ENST00000636903A0A1B0GU54
ENSG00000080503ENST00000636916A0A1B0GUV6
ENSG00000080503ENST00000637103A0A1B0GU54
ENSG00000080503ENST00000637383A0A1B0GTC9
ENSG00000080503ENST00000637806A0A1B0GWA8
ENSG00000080503ENST00000639760A0A1W2PS06

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Chromatin organizationREACTOMER-HSA-4839726
Chromatin modifying enzymesREACTOMER-HSA-3247509
RMTs methylate histone argininesREACTOMER-HSA-3214858

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
163412282006The human SWI/SNF subunit Brm is a regulator of alternative splicing.198
126202262003Transcriptional specificity of human SWI/SNF BRG1 and BRM chromatin remodeling complexes.139
125662962003Loss of BRG1/BRM in human lung cancer cell lines and primary lung cancers: correlation with poor prognosis.111
245201762014Functional epigenetics approach identifies BRM/SMARCA2 as a critical synthetic lethal target in BRG1-deficient cancers.110
238725842013A synthetic lethality-based strategy to treat cancers harboring a genetic deficiency in the chromatin remodeling factor BRG1.83
152405172004Chromatin remodeling factors and BRM/BRG1 expression as prognostic indicators in non-small cell lung cancer.70
223667872012Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome.67
244213952014Residual complexes containing SMARCA2 (BRM) underlie the oncogenic drive of SMARCA4 (BRG1) mutation.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
175460552007The reversible epigenetic silencing of BRM: implications for clinical targeted therapy.54

Citation

Dessen P

SMARCA2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/42331/smarca2