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FLASH GENE

Symbol

SMARCC2

contributors: npt/mct - updated : 30-01-2019

HGNC name	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
HGNC id	11105

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	IDSDBA intellectual disability, with significant speech delay, and behavioral abnormalities
Location	12q13.2      Physical location : 56.555.636 - 56.583.351
Synonym name	BRG1 (brm/SWI2-related gene 1) associated factor 170
	SWI/SNF complex 170 kDa subunit
	SWI3-like protein
Synonym symbol(s)	BAF170, CRACC2, RSC8

DNA

TYPE	functioning gene
STRUCTURE	27.22 kb     28 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	see SMARCD1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001130420 30 - 4920 NP_001123892 - 1152 - 2017 28533407 NM_003075 28 - 5106 NP_003066 133 1214 - 2017 28533407 NM_139067 29 - 4854 NP_620706 - 1130 - 2017 28533407 NM_001330288 29 - 5199 NP_001317217 - 1245 - 2017 28533407

EXPRESSION

Type	ubiquitous

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Nervous brain limbic system hippocampus dentate gyrus   Homo sapiens Olfactory (smell) olfactory bulb         Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous astrocyte Homo sapiens Olfactory olfactory receptor Homo sapiens

cell lineage	expression restricts pluripotency and interferes with self-renewal (Ho 2009)
cell lines
fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	chromatin organization modifier domain
	a SANT domain, having DNA-binding activity and believed to function as a histone tail binding module
	a highly conserved SWIRM (Swi3, Rsc8, and Moira) domain, interacting with DNA, binding di-nucleosome structures, and mediating specific protein-protein interactions

HOMOLOGY

interspecies

homolog to yeast S.cerevisiae SWI/SNF

intraspecies

paralog to SMARCC1

Homologene

FAMILY

SMARCC family

CATEGORY

DNA associated , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus,nucleoplasm
	intracellular,nucleus,chromatin/chromosome
text	matrix associated

basic FUNCTION	actin-dependent regulator of chromatin structure
	intrinsic factor of glial radial cells and plays a crucial role in embryogenesis and corticogenesis, determining the mammalian body and cortical size
	chromatin regulation by SMARCC2 controls cerebral cortical size and thickness
	expression of SMARCA2 and SMARCC2 during reprogramming was regulated by JAK/STAT3 activity
	involvement of SMARCC2-dependent chromatin remodeling in hippocampal neurogenesis and cognition, suggesing a specific role of adult neurogenesis in dentate gyrus (DG) in adaptive behavior
	SMARCC2, SMARCC1 play essential roles in specification, olfactory neural stem cells (oNSCs) proliferation and olfactory receptor neurons (ORNs) maturation of developing olfactory epithelium

CELLULAR PROCESS	nucleotide, chromatin organization
	nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	component of the chromatin remodeling complex
	subunit of the chromatin remodeling complex mSWI/SNF

INTERACTION

DNA

RNA

small molecule

protein

SMARCD3 and SMARCC2 are required for proper BAF complex composition, and SMARCC2 loss leads to retention of SMARCA4 at cardiac precursors (CPs)-specific sites

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IDSDBA

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS