InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: SMARCA2

Summary

InnateDB Protein

IDBP-44208.7

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

SMARCA2

Protein Name

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

Synonyms

BAF190; BRM; hBRM; hSNF2a; NCBRS; SNF2; SNF2L2; SNF2LA; Sth1p; SWI2;

Species

Homo sapiens

Ensembl Protein

ENSP00000371629

InnateDB Gene

IDBG-44200 (SMARCA2)

Protein Structure

UniProt Annotation

Function

Transcriptional coactivator cooperating with nuclear hormone receptors to potentiate transcriptional activation. Also involved in vitamin D-coupled transcription regulation via its association with the WINAC complex, a chromatin-remodeling complex recruited by vitamin D receptor (VDR), which is required for the ligand-bound VDR-mediated transrepression of the CYP27B1 gene. Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron- specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity). {ECO:0000250}.

Subcellular Localization

Nucleus.

Disease Associations

Nicolaides-Baraitser syndrome (NCBRS) [MIM:601358]: A rare disorder characterized by severe mental retardation with absent or limited speech, seizures, short stature, sparse hair, typical facial characteristics, brachydactyly, prominent finger joints and broad distal phalanges. Some of the features are progressive with time. {ECO:0000269PubMed:22366787, ECO:0000269PubMed:22426308}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 143 experimentally validated interaction(s) in this database.
They are also associated with 34 interaction(s) predicted by orthology.

Experimentally validated
Total	143 [view]
Protein-Protein	139 [view]
Protein-DNA	4 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	34 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0001105	RNA polymerase II transcription coactivator activity
GO:0003676	nucleic acid binding
GO:0003677	DNA binding
GO:0003713	transcription coactivator activity
GO:0004386	helicase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008094	DNA-dependent ATPase activity
GO:0016817	hydrolase activity, acting on acid anhydrides
GO:0016818	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0042393	histone binding
GO:0044212	transcription regulatory region DNA binding

Biological Process

GO:0000122	negative regulation of transcription from RNA polymerase II promoter
GO:0006200	ATP catabolic process
GO:0006338	chromatin remodeling
GO:0006351	transcription, DNA-templated
GO:0006355	regulation of transcription, DNA-templated
GO:0006357	regulation of transcription from RNA polymerase II promoter
GO:0007399	nervous system development
GO:0008152	metabolic process
GO:0030308	negative regulation of cell growth
GO:0045087	innate immune response (InnateDB)
GO:0045892	negative regulation of transcription, DNA-templated
GO:0045893	positive regulation of transcription, DNA-templated
GO:0045944	positive regulation of transcription from RNA polymerase II promoter

Cellular Component

GO:0000790	nuclear chromatin
GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0016514	SWI/SNF complex
GO:0043231	intracellular membrane-bounded organelle
GO:0045111	intermediate filament cytoskeleton
GO:0071564	npBAF complex
GO:0071565	nBAF complex

Protein Structure and Domains

PDB ID

InterPro

IPR000330 SNF2-related
IPR001487 Bromodomain
IPR001650 Helicase, C-terminal
IPR006576 BRK domain
IPR012337 Ribonuclease H-like domain
IPR013999 HAS subgroup
IPR014001 Helicase, superfamily 1/2, ATP-binding domain
IPR014012 Helicase/SANT-associated, DNA binding
IPR014978 Glutamine-Leucine-Glutamine, QLQ
IPR027417 P-loop containing nucleoside triphosphate hydrolase

PFAM

PF00176
PF00439
PF00271
PF07533
PF07529
PF08880

PRINTS

PR00503

PIRSF

SMART

SM00297
SM00490
SM00592
SM00573
SM00487
SM00951

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt