|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:RAG-2
gptkb:SCID
IMD6013
|
|
gptkbp:alternativeSplicing
|
no
|
|
gptkbp:associatedWith
|
gptkb:Severe_Combined_Immunodeficiency_(SCID)
gptkb:Omenn_syndrome
gptkb:RAG1_gene
|
|
gptkbp:biologicalProcess
|
DNA binding
chromatin binding
endonuclease activity
|
|
gptkbp:clinicalTrialPhase
|
genetic testing for SCID
|
|
gptkbp:discoveredBy
|
gptkb:David_Baltimore's_lab
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:RAG-2_protein
|
|
gptkbp:Entrez_Gene_ID
|
5899
ENSG00000166349
|
|
gptkbp:evolutionaryConservation
|
conserved in vertebrates
|
|
gptkbp:expressedIn
|
gptkb:thymus
bone marrow
|
|
gptkbp:fullName
|
gptkb:Recombination_Activating_Gene_2
|
|
gptkbp:function
|
gptkb:V(D)J_recombination
lymphocyte development
|
|
gptkbp:gene
|
gptkb:RAG2
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:9832
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RAG2 gene
|
|
gptkbp:interactsWith
|
gptkb:RAG-1_protein
|
|
gptkbp:length
|
527 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11p12
chromosome 11
|
|
gptkbp:modelOrganismFor
|
gptkb:mouse
gptkb:zebrafish
|
|
gptkbp:mutationAssociatedWith
|
nonsense
missense
immunodeficiency
loss-of-function
frameshift
|
|
gptkbp:OMIM
|
179620
|
|
gptkbp:orthologInMouse
|
gptkb:Rag2
|
|
gptkbp:product
|
solved by X-ray crystallography
|
|
gptkbp:proteinFamily
|
gptkb:RAG_gene_family
gptkb:plant_homeodomain_(PHD)_finger
|
|
gptkbp:regulates
|
regulated during lymphocyte development
|
|
gptkbp:requires
|
gptkb:adaptive_immune_system
|
|
gptkbp:sequence
|
gptkb:NCBI
gptkb:Ensembl
gptkb:GenBank
|
|
gptkbp:UniProtID
|
P55895
|
|
gptkbp:bfsParent
|
gptkb:Omenn_syndrome
|
|
gptkbp:bfsLayer
|
7
|