Rag2 recombination activating gene 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rag2provided by MGI
Official Full Name: recombination activating gene 2provided by MGI
Primary source: MGI:MGI:97849
See related: Ensembl:ENSMUSG00000032864 AllianceGenome:MGI:97849
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: Rag-2
Summary: Enables several functions, including phosphatidylinositol phosphate binding activity; phosphatidylinositol-3,4-bisphosphate binding activity; and zinc ion binding activity. Involved in T cell differentiation in thymus; V(D)J recombination; and pre-B cell allelic exclusion. Acts upstream of or within several processes, including B cell homeostatic proliferation; lymphocyte differentiation; and positive regulation of organ growth. Predicted to be located in nucleoplasm. Predicted to be part of DNA recombinase complex. Is expressed in gut; hemolymphoid system; and liver. Used to study Omenn syndrome and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Human ortholog(s) of this gene implicated in Omenn syndrome; combined cellular and humoral immune defects with granulomas; severe combined immunodeficiency; and severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, Nk cell-positive. Orthologous to human RAG2 (recombination activating 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Restricted expression toward thymus adult (RPKM 9.1) See more
Orthologs: human all
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Genomic context

Location:: 2 E2; 2 53.87 cM

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	2	NC_000068.8 (101455057..101462873)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	2	NC_000068.7 (101624712..101632528)

Chromosome 2 - NC_000068.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction See all GeneRIFs (108)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (1)
Endonuclease-mediated (18) 1 citation
Targeted (17) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

PMC102178P1 (e-PCR)
- UniSTS:270080

PMC137757P1 (e-PCR)
- UniSTS:270853

BB208787 (e-PCR)
- UniSTS:207366

RAG2 (e-PCR)
- UniSTS:266542

UniSTS:259651 (e-PCR)
- UniSTS:259651

Rag2 (e-PCR), detects polymorphism
- UniSTS:259651

PMC21337P1 (e-PCR)
- UniSTS:272038

PMC196132P1 (e-PCR)
- UniSTS:271798

Rag2 (e-PCR), detects polymorphism
- UniSTS:144320

Rag2 (e-PCR), detects polymorphism
- UniSTS:256451

M64796 (e-PCR)
- UniSTS:163292

Rag2 (e-PCR), detects polymorphism
- UniSTS:516597

PMC150727P7 (e-PCR)
- UniSTS:271096

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IDA Inferred from Direct Assay more info	PubMed
enables methylated histone binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4,5-trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,4-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-3,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables phosphatidylinositol-4,5-bisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables zinc ion binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
acts_upstream_of_or_within B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in B cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within B cell homeostatic proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within B cell lineage commitment	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DN2 thymocyte differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within DNA recombination	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within T cell differentiation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in T cell differentiation in thymus	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within T cell lineage commitment	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in V(D)J recombination	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within V(D)J recombination	IGI Inferred from Genetic Interaction more info	PubMed
involved_in V(D)J recombination	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in chromatin organization	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within defense response to bacterium	IGI Inferred from Genetic Interaction more info	PubMed
involved_in mature B cell differentiation involved in immune response	IEA Inferred from Electronic Annotation more info
involved_in mature B cell differentiation involved in immune response	ISO Inferred from Sequence Orthology more info
involved_in negative regulation of T cell differentiation in thymus	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of T cell differentiation in thymus	ISO Inferred from Sequence Orthology more info
acts_upstream_of organ growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within positive regulation of organ growth	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within positive regulation of organ growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in pre-B cell allelic exclusion	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
part_of DNA recombinase complex	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IC Inferred by Curator more info	PubMed

General protein information

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Preferred Names: V(D)J recombination-activating protein 2

Names: recombinase activating gene 2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_009020.4 → NP_033046.1 V(D)J recombination-activating protein 2

See identical proteins and their annotated locations for NP_033046.1

Status: VALIDATED

Source sequence(s)

AK040375, BB654295

Consensus CDS

CCDS16462.1

UniProtKB/Swiss-Prot

P21784

UniProtKB/TrEMBL

Q542D1, Q80Z95

Related

ENSMUSP00000038204.4, ENSMUST00000044031.4

Conserved Domains (2) summary

pfam03089
Location:51 → 388

RAG2; Recombination activating protein 2

pfam13341
Location:414 → 491

RAG2_PHD; RAG2 PHD domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000068.8 Reference GRCm39 C57BL/6J

Range

101455057..101462873

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_017316606.3 → XP_017172095.1 V(D)J recombination-activating protein 2 isoform X1

UniProtKB/Swiss-Prot

P21784

UniProtKB/TrEMBL

Q542D1, Q80Z95

Conserved Domains (2) summary

pfam03089
Location:51 → 388

RAG2; Recombination activating protein 2

pfam13341
Location:414 → 491

RAG2_PHD; RAG2 PHD domain