|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
immunodeficiency
autoimmunity
immune system development
|
|
gptkbp:discoveredBy
|
gptkb:David_Baltimore's_lab
|
|
gptkbp:discoveredIn
|
1992
|
|
gptkbp:encodes
|
gptkb:RAG-2_protein
|
|
gptkbp:Entrez_Gene_ID
|
5899
ENSG00000166349
|
|
gptkbp:expressedIn
|
lymphocyte development
lymphoid cells
|
|
gptkbp:fullName
|
gptkb:Recombination_Activating_Gene_2
|
|
gptkbp:function
|
gptkb:V(D)J_recombination
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
gptkb:HGNC:9832
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
RAG2
|
|
gptkbp:interactsWith
|
gptkb:RAG1
|
|
gptkbp:length
|
527 amino acids
|
|
gptkbp:locatedOnChromosome
|
gptkb:11p12
chromosome 11
|
|
gptkbp:mutationAssociatedWith
|
gptkb:severe_combined_immunodeficiency_(SCID)
gptkb:Omenn_syndrome
nonsense
missense
loss-of-function
frameshift
splice-site
|
|
gptkbp:OMIM
|
179620
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInCat
|
gptkb:RAG2
|
|
gptkbp:orthologInChicken
|
gptkb:RAG2
|
|
gptkbp:orthologInCow
|
gptkb:RAG2
|
|
gptkbp:orthologInDog
|
gptkb:RAG2
|
|
gptkbp:orthologInFrog
|
rag2
|
|
gptkbp:orthologInHorse
|
gptkb:RAG2
|
|
gptkbp:orthologInMonkey
|
gptkb:RAG2
|
|
gptkbp:orthologInMouse
|
gptkb:Rag2
|
|
gptkbp:orthologInOpossum
|
gptkb:RAG2
|
|
gptkbp:orthologInPig
|
gptkb:RAG2
|
|
gptkbp:orthologInPlatypus
|
gptkb:RAG2
|
|
gptkbp:orthologInRabbit
|
gptkb:RAG2
|
|
gptkbp:orthologInSheep
|
gptkb:RAG2
|
|
gptkbp:orthologInZebrafish
|
rag2
|
|
gptkbp:pathway
|
adaptive immune response
antigen receptor diversity
|
|
gptkbp:proteinFamily
|
gptkb:plant_homeodomain_(PHD)_finger
|
|
gptkbp:UniProtID
|
P55895
|
|
gptkbp:bfsParent
|
gptkb:immunodeficiency
|
|
gptkbp:bfsLayer
|
6
|