|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
gptkb:BRM
gptkb:SNF2A
gptkb:hBRM
|
|
gptkbp:associatedWith
|
gptkb:cancer
gptkb:Coffin-Siris_syndrome
|
|
gptkbp:biologicalProcess
|
chromatin organization
gene expression regulation
DNA binding
ATPase activity
|
|
gptkbp:component
|
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:discoveredIn
|
1994
|
|
gptkbp:encodes
|
gptkb:BRM_protein
|
|
gptkbp:Entrez_Gene_ID
|
6595
ENSG00000104951
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:SWI/SNF_related,_matrix_associated,_actin_dependent_regulator_of_chromatin,_subfamily_a,_member_2
|
|
gptkbp:function
|
transcription regulation
chromatin remodeling
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:SMARCA4
|
|
gptkbp:HGNC_ID
|
HGNC:11100
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SMARCA2
|
|
gptkbp:interactsWith
|
gptkb:ARID1A
gptkb:ACTL6A
gptkb:BAF_complex
gptkb:SMARCA4
gptkb:SMARCB1
gptkb:SMARCC1
gptkb:SMARCC2
|
|
gptkbp:locatedOnChromosome
|
gptkb:chromosome_9
9p24.3
|
|
gptkbp:mutationAssociatedWith
|
hypotonia
intellectual disability
developmental disorders
coarse facial features
growth retardation
|
|
gptkbp:OMIM
|
600014
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Smarca2
|
|
gptkbp:postTranslationalModification
|
phosphorylation
ubiquitination
acetylation
|
|
gptkbp:proteinFamily
|
gptkb:bromodomain
gptkb:SWI/SNF_family
helicase domain
|
|
gptkbp:regulates
|
transcription of target genes
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:UniProtID
|
P51531
|
|
gptkbp:bfsParent
|
gptkb:chromosome_9
gptkb:SWI/SNF_chromatin_remodeling_complex
|
|
gptkbp:bfsLayer
|
6
|