RAG2 (recombination activating 2)

2003-05-01  

Identity

HGNC
RAG2
LOCATION
11p12
LOCUSID
5897
ALIAS
RAG-2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5897
MIM: 179616
HGNC: 9832
Ensembl: ENSG00000175097

Variants:

dbSNP: 5897
ClinVar: 5897
TCGA: ENSG00000175097
COSMIC: RAG2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175097ENST00000311485P55895
ENSG00000175097ENST00000527033E9PQB9
ENSG00000175097ENST00000529083E9PPU5
ENSG00000175097ENST00000618712P55895

Expression (GTEx)

0
1
2
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Primary immunodeficiencyKEGGko05340
Primary immunodeficiencyKEGGhsa05340
FoxO signaling pathwayKEGGhsa04068
Immune SystemREACTOMER-HSA-168256
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-7 signalingREACTOMER-HSA-1266695
Signal TransductionREACTOMER-HSA-162582
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK6/MAPK4 signalingREACTOMER-HSA-5687128

References

Pubmed IDYearTitleCitations
377247032024Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.1
383509072024From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.0
377247032024Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.1
383509072024From variant of uncertain significance to likely pathogenic in two siblings with atypical RAG2 Deficiency: a case report and review of the literature.0
362794172023Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.11
375732802023A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.0
362794172023Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.11
375732802023A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc-binding affinity.0
359026382022Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells.14
362702842022Rag2(-/-) accelerates lipofuscin accumulation in the brain: Implications for human stem cell brain transplantation studies.3
359026382022Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet(+) B cells.14
362702842022Rag2(-/-) accelerates lipofuscin accumulation in the brain: Implications for human stem cell brain transplantation studies.3
337961202021The Interplay Between Chromatin Architecture and Lineage-Specific Transcription Factors and the Regulation of Rag Gene Expression.14
339548792021Clinical Manifestations, Mutational Analysis, and Immunological Phenotype in Patients with RAG1/2 Mutations: First Cases Series from Mexico and Description of Two Novel Mutations.2
343823512021Survival-Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah(-/-) Rag2(-/-) IL2rg(-/-) Rats.4

Citation

Dessen P

RAG2 (recombination activating 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/351/deep-insight-explorer/js/haematological-explorer/