|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeName
|
SC35
SFRS2
SRFS2
|
|
gptkbp:associatedWith
|
gptkb:acute_myeloid_leukemia
myelodysplastic syndromes
|
|
gptkbp:biologicalProcess
|
regulation of gene expression
RNA binding
mRNA splicing via spliceosome
|
|
gptkbp:discoveredBy
|
Fu XD
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:domain
|
gptkb:RS_domain
RNA recognition motif
|
|
gptkbp:Entrez_Gene_ID
|
6427
ENSG00000161547
|
|
gptkbp:expressedIn
|
gptkb:nucleus
|
|
gptkbp:expression_pattern
|
ubiquitous
|
|
gptkbp:fullName
|
Serine/arginine-rich splicing factor 2
|
|
gptkbp:function
|
RNA binding
mRNA processing
regulation of alternative splicing
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:GOID
|
GO:0008380
|
|
gptkbp:HGNC_ID
|
10785
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
SRSF2
|
|
gptkbp:interactsWith
|
gptkb:SF3B1
gptkb:SRSF1
U2AF2
|
|
gptkbp:length
|
221
|
|
gptkbp:locatedOnChromosome
|
17
17q25.1
|
|
gptkbp:molecularWeight
|
28 kDa
|
|
gptkbp:mutationAssociatedWith
|
missense mutation
splice site mutation
|
|
gptkbp:OMIM
|
600812
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
Srsf2
|
|
gptkbp:pathway
|
gptkb:spliceosome
|
|
gptkbp:PDB
|
2LEB
|
|
gptkbp:postTranslationalModification
|
phosphorylation
arginine methylation
|
|
gptkbp:product
|
SRSF2 protein
|
|
gptkbp:proteinFamily
|
SR protein family
|
|
gptkbp:significance
|
mutations linked to hematological malignancies
|
|
gptkbp:subcellularLocation
|
nuclear speckles
|
|
gptkbp:UniProtID
|
Q01130
|
|
gptkbp:bfsParent
|
gptkb:CMML
gptkb:RRM_domain
gptkb:chronic_myelomonocytic_leukemia
|
|
gptkbp:bfsLayer
|
7
|