|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:SA2
gptkb:stromal_antigen_2
SA-2
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:intellectual_disability
gptkb:cancer
developmental delay
cohesinopathies
|
|
gptkbp:clinicalTrialPhase
|
yes
|
|
gptkbp:cohesinComplexComponent
|
yes
|
|
gptkbp:conservedIn
|
vertebrates
|
|
gptkbp:discoveredIn
|
1999
|
|
gptkbp:encodes
|
gptkb:Stromal_antigen_2_protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000101972
10735
|
|
gptkbp:expressedIn
|
various tissues
|
|
gptkbp:fullName
|
gptkb:stromal_antigen_2
|
|
gptkbp:function
|
DNA repair
regulation of sister chromatid cohesion
component of the cohesin complex
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:hasParalog
|
gptkb:STAG1
STAG3
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:11390
|
|
gptkbp:interactsWith
|
gptkb:RAD21
gptkb:SMC1A
gptkb:SMC3
|
|
gptkbp:length
|
1231 amino acids
|
|
gptkbp:locatedOnChromosome
|
X
|
|
gptkbp:mutationAssociatedWith
|
gptkb:myeloid_leukemia
gptkb:bladder_cancer
gptkb:glioblastoma
gptkb:Ewing_sarcoma
nonsense
missense
loss-of-function
frameshift
|
|
gptkbp:OMIM
|
300826
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Stag2
|
|
gptkbp:proteinFamily
|
gptkb:STAG
|
|
gptkbp:subcellularLocation
|
gptkb:nucleus
|
|
gptkbp:target
|
cancer research
|
|
gptkbp:UniProtID
|
gptkb:Q8N3U4
|
|
gptkbp:bfsParent
|
gptkb:APRIN
|
|
gptkbp:bfsLayer
|
5
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
STAG2
|