SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)

2003-05-01  

Identity

HGNC
LOCATION
12q13.2
LOCUSID
ALIAS
BAF170,CRACC2,CSS8,Rsc8
FUSION GENES

Other Information

Locus ID:

NCBI: 6601
MIM: 601734
HGNC: 11105
Ensembl: ENSG00000139613

Variants:

dbSNP: 6601
ClinVar: 6601
TCGA: ENSG00000139613
COSMIC: SMARCC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139613ENST00000267064Q8TAQ2
ENSG00000139613ENST00000267064A0A024RB22
ENSG00000139613ENST00000347471Q8TAQ2
ENSG00000139613ENST00000394023Q8TAQ2
ENSG00000139613ENST00000550164F8VXC8
ENSG00000139613ENST00000550519F8VZW6
ENSG00000139613ENST00000552674F8VZW6

Expression (GTEx)

0
50
100
150

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

References

Pubmed IDYearTitleCitations
161998782005Regulating SWI/SNF subunit levels via protein-protein interactions and proteasomal degradation: BAF155 and BAF170 limit expression of BAF57.47
216999042011Varying modulation of HIV-1 LTR activity by Baf complexes.22
276116842016mSWI/SNF (BAF) Complexes Are Indispensable for the Neurogenesis and Development of Embryonic Olfactory Epithelium.13
230307152013Frameshift mutations of a chromatin-remodeling gene SMARCC2 in gastric and colorectal cancers with microsatellite instability.7
305808082019Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.7
318192602020The functional landscape of the human phosphoproteome.2
271901302016The Swi3 protein plays a unique role in regulating respiration in eukaryotes.1

Citation

Dessen P

SMARCC2 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/42335/smarcc2-(swi-snf-related-matrix-associated-actin-dependent-regulator-of-chromatin-subfamily-c-member-2)