This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought t... See more...

Aliases for RAG2 Gene

Aliases for RAG2 Gene

  • Recombination Activating 2 2 3 5
  • V(D)J Recombination-Activating Protein 2 3 4
  • Recombination Activating Gene 2 2 3
  • RAG-2 3 4

External Ids for RAG2 Gene

Previous GeneCards Identifiers for RAG2 Gene

  • GC11M038170
  • GC11M037290
  • GC11M036652
  • GC11M036577
  • GC11M036570
  • GC11M036613
  • GC11M036316

Summaries for RAG2 Gene

Entrez Gene Summary for RAG2 Gene

  • This gene encodes a protein that is involved in the initiation of V(D)J recombination during B and T cell development. This protein forms a complex with the product of the adjacent recombination activating gene 1, and this complex can form double-strand breaks by cleaving DNA at conserved recombination signal sequences. The recombination activating gene 1 component is thought to contain most of the catalytic activity, while the N-terminal of the recombination activating gene 2 component is thought to form a six-bladed propeller in the active core that serves as a binding scaffold for the tight association of the complex with DNA. A C-terminal plant homeodomain finger-like motif in this protein is necessary for interactions with chromatin components, specifically with histone H3 that is trimethylated at lysine 4. Mutations in this gene cause Omenn syndrome, a form of severe combined immunodeficiency associated with autoimmune-like symptoms. [provided by RefSeq, Jul 2008]

GeneCards Summary for RAG2 Gene

RAG2 (Recombination Activating 2) is a Protein Coding gene. Diseases associated with RAG2 include Combined Cellular And Humoral Immune Defects With Granulomas and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative. Among its related pathways are RET signaling and Interleukin-7 signaling. Gene Ontology (GO) annotations related to this gene include chromatin binding and methylated histone binding.

UniProtKB/Swiss-Prot Summary for RAG2 Gene

  • Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of chromatin state that recruits the RAG complex to H3K4me3 (By similarity).

Additional gene information for RAG2 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for RAG2 Gene

Genomics for RAG2 Gene

GeneHancer (GH) Regulatory Elements for RAG2 Gene

Promoters and enhancers for RAG2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J036598 Promoter/Enhancer 0.6 EPDnew dbSUPER 500.7 +0.0 23 0.1 ZNF384 RAG2 lnc-RAG2-1 IFTAP
GH11J036596 Enhancer 0.4 FANTOM5 dbSUPER 531.4 +1.8 1759 0.4 RAG2 lnc-RAG2-1 RAG1 IFTAP
GH11J036626 Enhancer 1 Ensembl ENCODE dbSUPER 12.6 -29.7 -29722 3.2 ZIC2 TRIM28 MXI1 OSR2 WT1 TCF7L2 USF1 OVOL3 ZNF189 ZNF843 RAG2 IFTAP RAG1 TRAF6 lnc-RAG2-1 piR-44253-002
GH11J036564 Promoter/Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 12.1 +33.7 33728 0.2 CTCF REST RAD21 SMC3 MXI1 ZNF654 TRIP13 IFTAP RAG2 MG828668-021 RAG1
GH11J036577 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.8 +20.3 20262 1.8 JUND BCL11A GATA3 ZNF184 HIC1 RCOR1 PRDM6 FEZF1 TCF7L2 ZNF366 RAG2 IFTAP MG828668-021 lnc-RAG2-1 RAG1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around RAG2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for RAG2

Top Transcription factor binding sites by QIAGEN in the RAG2 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun
  • NF-kappaB
  • NF-kappaB1
  • Nkx2-5
  • SREBP-1a
  • SREBP-1b
  • SREBP-1c
  • STAT3

Genomic Locations for RAG2 Gene

Genomic Locations for RAG2 Gene
chr11:36,575,574-36,598,279
(GRCh38/hg38)
Size:
22,706 bases
Orientation:
Minus strand
chr11:36,597,124-36,619,829
(GRCh37/hg19)
Size:
22,706 bases
Orientation:
Minus strand

Genomic View for RAG2 Gene

Genes around RAG2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
RAG2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for RAG2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for RAG2 Gene

Proteins for RAG2 Gene

  • Protein details for RAG2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P55895-RAG2_HUMAN
    Recommended name:
    V(D)J recombination-activating protein 2
    Protein Accession:
    P55895
    Secondary Accessions:
    • A8K9E9
    • Q8TBL4

    Protein attributes for RAG2 Gene

    Size:
    527 amino acids
    Molecular mass:
    59241 Da
    Quaternary structure:
    • Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2.

neXtProt entry for RAG2 Gene

Post-translational modifications for RAG2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for RAG2 Gene

No data available for DME Specific Peptides for RAG2 Gene

Domains & Families for RAG2 Gene

Gene Families for RAG2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for RAG2 Gene

Blocks:
  • V-D-J recombination activating protein 2 (RAG2)
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for RAG2 Gene

GenScript: Design optimal peptide antigens:
  • Recombination activating protein 2 (Q9BYY1_HUMAN)
  • V(D)J recombination-activating protein 2 (RAG2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P55895

UniProtKB/Swiss-Prot:

RAG2_HUMAN :
  • The atypical PHD-type zinc finger recognizes and binds histone H3 trimethylated on 'Lys-4' (H3K4me3). The presence Tyr-445 instead of a carboxylate in classical PHD-type zinc fingers results in an enhanced binding to H3K4me3 in presence of dimethylated on 'Arg-2' (H3R2me2) rather than inhibited. The atypical PHD-type zinc finger also binds various phosphoinositides, such as phosphatidylinositol 3,4-bisphosphate binding (PtdIns(3,4)P2), phosphatidylinositol 3,5-bisphosphate binding (PtdIns(3,5)P2), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate binding (PtdIns(3,4,5)P3) (By similarity).
  • Belongs to the RAG2 family.
Domain:
  • The atypical PHD-type zinc finger recognizes and binds histone H3 trimethylated on 'Lys-4' (H3K4me3). The presence Tyr-445 instead of a carboxylate in classical PHD-type zinc fingers results in an enhanced binding to H3K4me3 in presence of dimethylated on 'Arg-2' (H3R2me2) rather than inhibited. The atypical PHD-type zinc finger also binds various phosphoinositides, such as phosphatidylinositol 3,4-bisphosphate binding (PtdIns(3,4)P2), phosphatidylinositol 3,5-bisphosphate binding (PtdIns(3,5)P2), phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol 3,4,5-trisphosphate binding (PtdIns(3,4,5)P3) (By similarity).
Family:
  • Belongs to the RAG2 family.
genes like me logo Genes that share domains with RAG2: view

Function for RAG2 Gene

Molecular function for RAG2 Gene

UniProtKB/Swiss-Prot Function:
Core component of the RAG complex, a multiprotein complex that mediates the DNA cleavage phase during V(D)J recombination. V(D)J recombination assembles a diverse repertoire of immunoglobulin and T-cell receptor genes in developing B and T-lymphocytes through rearrangement of different V (variable), in some cases D (diversity), and J (joining) gene segments. DNA cleavage by the RAG complex occurs in 2 steps: a first nick is introduced in the top strand immediately upstream of the heptamer, generating a 3'-hydroxyl group that can attack the phosphodiester bond on the opposite strand in a direct transesterification reaction, thereby creating 4 DNA ends: 2 hairpin coding ends and 2 blunt, 5'-phosphorylated ends. The chromatin structure plays an essential role in the V(D)J recombination reactions and the presence of histone H3 trimethylated at 'Lys-4' (H3K4me3) stimulates both the nicking and haipinning steps. The RAG complex also plays a role in pre-B cell allelic exclusion, a process leading to expression of a single immunoglobulin heavy chain allele to enforce clonality and monospecific recognition by the B-cell antigen receptor (BCR) expressed on individual B-lymphocytes. The introduction of DNA breaks by the RAG complex on one immunoglobulin allele induces ATM-dependent repositioning of the other allele to pericentromeric heterochromatin, preventing accessibility to the RAG complex and recombination of the second allele. In the RAG complex, RAG2 is not the catalytic component but is required for all known catalytic activities mediated by RAG1. It probably acts as a sensor of chromatin state that recruits the RAG complex to H3K4me3 (By similarity).
GENATLAS Biochemistry:
recombination V(D)J activating gene 2,acting,in conjunction with RAG1,at a pair of recombination signal sequences and making double strand breaks,next to these signals,located 8kb apart from RAG1,convergently oriented

Phenotypes From GWAS Catalog for RAG2 Gene

Gene Ontology (GO) - Molecular Function for RAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA,ISS --
GO:0005515 protein binding IEA --
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding IEA,ISS --
GO:0005547 phosphatidylinositol-3,4,5-trisphosphate binding IEA,ISS --
genes like me logo Genes that share ontologies with RAG2: view
genes like me logo Genes that share phenotypes with RAG2: view

Human Phenotype Ontology for RAG2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for RAG2 Gene

MGI Knock Outs for RAG2:

Clone Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets and HOMER Transcription for RAG2 Gene

Localization for RAG2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for RAG2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for RAG2 gene
Compartment Confidence
nucleus 5
plasma membrane 3
mitochondrion 3
extracellular 2
cytoskeleton 2
endoplasmic reticulum 2
cytosol 2
peroxisome 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for RAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0097519 DNA recombinase complex IBA 21873635
genes like me logo Genes that share ontologies with RAG2: view

Pathways & Interactions for RAG2 Gene

genes like me logo Genes that share pathways with RAG2: view

Pathways by source for RAG2 Gene

SIGNOR curated interactions for RAG2 Gene

Activates:

Gene Ontology (GO) - Biological Process for RAG2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002326 B cell lineage commitment IEA --
GO:0002331 pre-B cell allelic exclusion IEA,ISS --
GO:0002358 B cell homeostatic proliferation IEA --
GO:0002360 T cell lineage commitment IEA --
GO:0006310 DNA recombination IEA --
genes like me logo Genes that share ontologies with RAG2: view

Drugs & Compounds for RAG2 Gene

(5) Drugs for RAG2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for RAG2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with RAG2: view

Transcripts for RAG2 Gene

mRNA/cDNA for RAG2 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for RAG2 Gene

No ASD Table

Relevant External Links for RAG2 Gene

GeneLoc Exon Structure for
RAG2

Expression for RAG2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for RAG2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for RAG2 Gene

This gene is overexpressed in Thyroid (x53.0).

Protein differential expression in normal tissues from HIPED for RAG2 Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for RAG2 Gene



Protein tissue co-expression partners for RAG2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for RAG2

SOURCE GeneReport for Unigene cluster for RAG2 Gene:

Hs.714519

mRNA Expression by UniProt/SwissProt for RAG2 Gene:

P55895-RAG2_HUMAN
Tissue specificity: Cells of the B- and T-lymphocyte lineages.

Evidence on tissue expression from TISSUES for RAG2 Gene

  • Blood(2.8)
  • Bone marrow(2.6)
  • Spleen(2.5)
  • Lymph node(2.4)
  • Intestine(2)
  • Liver(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for RAG2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • face
  • forehead
  • head
  • meninges
  • middle ear
  • neck
  • skull
Thorax:
  • lung
  • thymus
Abdomen:
  • intestine
  • large intestine
  • liver
  • small intestine
  • spleen
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • lymph node
  • red blood cell
  • skin
  • white blood cell
genes like me logo Genes that share expression patterns with RAG2: view

Orthologs for RAG2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for RAG2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia RAG2 31 30
  • 99.81 (n)
OneToOne
cow
(Bos Taurus)
Mammalia RAG2 31 30
  • 90.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia RAG2 31 30
  • 89.88 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Rag2 30
  • 87.98 (n)
mouse
(Mus musculus)
Mammalia Rag2 17 31 30
  • 87.54 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia RAG2 31
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia RAG2 31
  • 78 (a)
OneToOne
chicken
(Gallus gallus)
Aves RAG2 31 30
  • 72.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia RAG2 31
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia rag2 30
  • 66.54 (n)
zebrafish
(Danio rerio)
Actinopterygii rag2 31 30
  • 57.7 (n)
OneToOne
Species where no ortholog for RAG2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for RAG2 Gene

ENSEMBL:
Gene Tree for RAG2 (if available)
TreeFam:
Gene Tree for RAG2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for RAG2: view image

Paralogs for RAG2 Gene

No data available for Paralogs for RAG2 Gene

Variants for RAG2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for RAG2 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
636599 Likely Pathogenic: not provided 36,593,896(-) G/T NONSENSE
639778 Uncertain Significance: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Combined cellular and humoral immune defects with granulomas 36,593,339(-) T/C MISSENSE_VARIANT
650904 Uncertain Significance: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Combined cellular and humoral immune defects with granulomas 36,592,773(-) G/A MISSENSE_VARIANT
658239 Uncertain Significance: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Combined cellular and humoral immune defects with granulomas 36,594,101(-) T/C MISSENSE_VARIANT
660163 Uncertain Significance: Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive; Combined cellular and humoral immune defects with granulomas 36,592,916(-) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for RAG2 Gene

Structural Variations from Database of Genomic Variants (DGV) for RAG2 Gene

Variant ID Type Subtype PubMed ID
esv2422305 CNV duplication 17116639
nsv1042014 CNV loss 25217958
nsv467791 CNV gain 19166990
nsv554003 CNV gain 21841781
nsv554004 CNV gain 21841781
nsv832123 CNV gain 17160897

Variation tolerance for RAG2 Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.54; 55.75% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for RAG2 Gene

Human Gene Mutation Database (HGMD)
RAG2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
RAG2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for RAG2 Gene

Disorders for RAG2 Gene

MalaCards: The human disease database

(20) MalaCards diseases for RAG2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search RAG2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

RAG2_HUMAN
  • Combined cellular and humoral immune defects with granulomas (CHIDG) [MIM:233650]: Immunodeficiency disease with granulomas in the skin, mucous membranes, and internal organs. Other characteristics include hypogammaglobulinemia, a diminished number of T and B-cells, and sparse thymic tissue on ultrasonography. {ECO:0000269 PubMed:18463379}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID) [MIM:601457]: A form of severe combined immunodeficiency (SCID), a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients present in infancy recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development. {ECO:0000269 PubMed:8810255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Omenn syndrome (OS) [MIM:603554]: Severe immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels. {ECO:0000269 PubMed:9630231}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for RAG2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with RAG2: view

No data available for Genatlas for RAG2 Gene

Publications for RAG2 Gene

  1. Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review. (PMID: 14726805) Kalman L … Buckley R (Genetics in medicine : official journal of the American College of Medical Genetics 2004) 3 23 41 54
  2. Human RAG2, like RAG1, is on chromosome 11 band p13 and therefore not linked to ataxia telangiectasia complementation groups. (PMID: 1283330) Sherrington PD … Rabbitts TH (Genes, chromosomes & cancer 1992) 2 3 23 54
  3. Expression of human recombination activating genes (RAG1 and RAG2) in neoplastic lymphoid cells: correlation with cell differentiation and antigen receptor expression. (PMID: 1832998) Bories JC … Sigaux F (Blood 1991) 3 4 23 54
  4. Polymorphisms in DNA repair genes and risk of non-Hodgkin lymphoma in a pooled analysis of three studies. (PMID: 20813000) Shen M … Zheng T (British journal of haematology 2010) 3 41 54
  5. Common single nucleotide polymorphisms in immunoregulatory genes and multiple myeloma risk among women in Connecticut. (PMID: 20568250) Lee KM … Lan Q (American journal of hematology 2010) 3 41 54

Products for RAG2 Gene

  • Signalway ELISA kits for RAG2
  • Signalway Proteins for RAG2

Sources for RAG2 Gene