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Protein

V(D)J recombination-activating protein 2

Gene

RAG2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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).By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi419Zinc 1By similarity1
Metal bindingi423Zinc 1By similarity1
Metal bindingi446Zinc 2By similarity1
Metal bindingi452Zinc 2By similarity1
Metal bindingi455Zinc 1By similarity1
Metal bindingi458Zinc 1By similarity1
Metal bindingi478Zinc 2By similarity1
Metal bindingi481Zinc 2By similarity1

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section specifies the position(s) and type(s) of zinc fingers within the protein.<p><a href='/help/zn_fing' target='_top'>More...</a></p>Zinc fingeri416 – 484PHD-type; atypicalAdd BLAST69

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionChromatin regulator
Biological processDNA recombination
LigandMetal-binding, Zinc

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-1266695 Interleukin-7 signaling
R-HSA-5687128 MAPK6/MAPK4 signaling

SIGNOR Signaling Network Open Resource

More...
SIGNORi
P55895

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
V(D)J recombination-activating protein 2
Short name:
RAG-2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:RAG2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000175097.7

Human Gene Nomenclature Database

More...
HGNCi
HGNC:9832 RAG2

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
179616 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55895

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Combined cellular and humoral immune defects with granulomas (CHIDG)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionImmunodeficiency 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.
See also OMIM:233650
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_04596077T → N in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918574EnsemblClinVar.1
Natural variantiVAR_045962451G → A in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918575EnsemblClinVar.1
Severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-negative/NK-cell-positive (T(-)B(-)NK(+) SCID)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:601457
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_005570229R → Q in T(-)B(-)NK(+) SCID. 1 PublicationCorresponds to variant dbSNP:rs121917894EnsemblClinVar.1
Natural variantiVAR_005571478C → Y in T(-)B(-)NK(+) SCID. 1 PublicationCorresponds to variant dbSNP:rs121918573EnsemblClinVar.1
Omenn syndrome (OS)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionSevere immunodeficiency characterized by the presence of activated, anergic, oligoclonal T-cells, hypereosinophilia, and high IgE levels.
See also OMIM:603554
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00889541C → W in OS. 1 PublicationCorresponds to variant dbSNP:rs121917895EnsemblClinVar.1
Natural variantiVAR_008896285M → R in OS. 1 PublicationCorresponds to variant dbSNP:rs121917896EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

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DisGeNETi
5897

MalaCards human disease database

More...
MalaCardsi
RAG2
MIMi233650 phenotype
601457 phenotype
603554 phenotype

Open Targets

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OpenTargetsi
ENSG00000175097

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
157949 Combined immunodeficiency with skin granulomas
39041 Omenn syndrome
331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA34186

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
RAG2

Domain mapping of disease mutations (DMDM)

More...
DMDMi
2498830

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001671371 – 527V(D)J recombination-activating protein 2Add BLAST527

Proteomic databases

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P55895

PeptideAtlas

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PeptideAtlasi
P55895

PRoteomics IDEntifications database

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PRIDEi
P55895

ProteomicsDB human proteome resource

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ProteomicsDBi
56877

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P55895

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P55895

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Cells of the B- and T-lymphocyte lineages.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000175097 Expressed in 70 organ(s), highest expression level in bone marrow

CleanEx database of gene expression profiles

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CleanExi
HS_RAG2

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P55895 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P55895 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA065704

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Component of the RAG complex composed of core components RAG1 and RAG2, and associated component HMGB1 or HMGB2.By similarity

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
111833, 5 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P55895

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000308620

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P55895

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P55895

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

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).By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the RAG2 family.Curated

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri416 – 484PHD-type; atypicalAdd BLAST69

Keywords - Domaini

Zinc-finger

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IJ5S Eukaryota
ENOG4110081 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00390000012559

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000237346

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG006694

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P55895

KEGG Orthology (KO)

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KOi
K10988

Identification of Orthologs from Complete Genome Data

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OMAi
FGQKGWP

Database of Orthologous Groups

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OrthoDBi
EOG091G052K

Database for complete collections of gene phylogenies

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PhylomeDBi
P55895

TreeFam database of animal gene trees

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TreeFami
TF331236

Family and domain databases

Conserved Domains Database

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CDDi
cd15569 PHD_RAG2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR011043 Gal_Oxase/kelch_b-propeller
IPR015915 Kelch-typ_b-propeller
IPR004321 RAG2
IPR025162 RAG2_PHD
IPR011011 Znf_FYVE_PHD

The PANTHER Classification System

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PANTHERi
PTHR10960 PTHR10960, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF03089 RAG2, 1 hit
PF13341 RAG2_PHD, 1 hit

Superfamily database of structural and functional annotation

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SUPFAMi
SSF50965 SSF50965, 1 hit
SSF57903 SSF57903, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry has 1 described isoform and 2 potential isoforms that are computationally mapped.Show allAlign All

P55895-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSLQMVTVSN NIALIQPGFS LMNFDGQVFF FGQKGWPKRS CPTGVFHLDV
60 70 80 90 100
KHNHVKLKPT IFSKDSCYLP PLRYPATCTF KGSLESEKHQ YIIHGGKTPN
110 120 130 140 150
NEVSDKIYVM SIVCKNNKKV TFRCTEKDLV GDVPEARYGH SINVVYSRGK
160 170 180 190 200
SMGVLFGGRS YMPSTHRTTE KWNSVADCLP CVFLVDFEFG CATSYILPEL
210 220 230 240 250
QDGLSFHVSI AKNDTIYILG GHSLANNIRP ANLYRIRVDL PLGSPAVNCT
260 270 280 290 300
VLPGGISVSS AILTQTNNDE FVIVGGYQLE NQKRMICNII SLEDNKIEIR
310 320 330 340 350
EMETPDWTPD IKHSKIWFGS NMGNGTVFLG IPGDNKQVVS EGFYFYMLKC
360 370 380 390 400
AEDDTNEEQT TFTNSQTSTE DPGDSTPFED SEEFCFSAEA NSFDGDDEFD
410 420 430 440 450
TYNEDDEEDE SETGYWITCC PTCDVDINTW VPFYSTELNK PAMIYCSHGD
460 470 480 490 500
GHWVHAQCMD LAERTLIHLS AGSNKYYCNE HVEIARALHT PQRVLPLKKP
510 520
PMKSLRKKGS GKILTPAKKS FLRRLFD
Length:527
Mass (Da):59,241
Last modified:November 1, 1997 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1CC4D0F88635BA87
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 2 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PPU5E9PPU5_HUMAN
V(D)J recombination-activating prot...
RAG2
150Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
E9PQB9E9PQB9_HUMAN
V(D)J recombination-activating prot...
RAG2
70Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti154V → A in AAH22397 (PubMed:15489334).Curated1
Sequence conflicti322M → T in AAH22397 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00889541C → W in OS. 1 PublicationCorresponds to variant dbSNP:rs121917895EnsemblClinVar.1
Natural variantiVAR_04596077T → N in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918574EnsemblClinVar.1
Natural variantiVAR_005570229R → Q in T(-)B(-)NK(+) SCID. 1 PublicationCorresponds to variant dbSNP:rs121917894EnsemblClinVar.1
Natural variantiVAR_008896285M → R in OS. 1 PublicationCorresponds to variant dbSNP:rs121917896EnsemblClinVar.1
Natural variantiVAR_045961293E → G. Corresponds to variant dbSNP:rs16929093EnsemblClinVar.1
Natural variantiVAR_045962451G → A in CHIDG; reduced recombination activity. 1 PublicationCorresponds to variant dbSNP:rs121918575EnsemblClinVar.1
Natural variantiVAR_005571478C → Y in T(-)B(-)NK(+) SCID. 1 PublicationCorresponds to variant dbSNP:rs121918573EnsemblClinVar.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

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DDBJi
Links Updated
M94633 Genomic DNA No translation available.
AK292664 mRNA Translation: BAF85353.1
CH471064 Genomic DNA Translation: EAW68117.1
BC022397 mRNA Translation: AAH22397.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS7903.1

NCBI Reference Sequences

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RefSeqi
NP_000527.2, NM_000536.3
NP_001230714.1, NM_001243785.1
NP_001230715.1, NM_001243786.1

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.714519

Genome annotation databases

Ensembl eukaryotic genome annotation project

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Ensembli
ENST00000311485; ENSP00000308620; ENSG00000175097
ENST00000618712; ENSP00000478672; ENSG00000175097

Database of genes from NCBI RefSeq genomes

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GeneIDi
5897

KEGG: Kyoto Encyclopedia of Genes and Genomes

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KEGGi
hsa:5897

UCSC genome browser

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UCSCi
uc001mwv.5 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

RAG2base

RAG2 deficiency database

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M94633 Genomic DNA No translation available.
AK292664 mRNA Translation: BAF85353.1
CH471064 Genomic DNA Translation: EAW68117.1
BC022397 mRNA Translation: AAH22397.1
CCDSiCCDS7903.1
RefSeqiNP_000527.2, NM_000536.3
NP_001230714.1, NM_001243785.1
NP_001230715.1, NM_001243786.1
UniGeneiHs.714519

3D structure databases

ProteinModelPortaliP55895
SMRiP55895
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi111833, 5 interactors
CORUMiP55895
STRINGi9606.ENSP00000308620

PTM databases

iPTMnetiP55895
PhosphoSitePlusiP55895

Polymorphism and mutation databases

BioMutaiRAG2
DMDMi2498830

Proteomic databases

PaxDbiP55895
PeptideAtlasiP55895
PRIDEiP55895
ProteomicsDBi56877

Protocols and materials databases

The DNASU plasmid repository

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DNASUi
5897
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000311485; ENSP00000308620; ENSG00000175097
ENST00000618712; ENSP00000478672; ENSG00000175097
GeneIDi5897
KEGGihsa:5897
UCSCiuc001mwv.5 human

Organism-specific databases

Comparative Toxicogenomics Database

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CTDi
5897
DisGeNETi5897
EuPathDBiHostDB:ENSG00000175097.7

GeneCards: human genes, protein and diseases

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GeneCardsi
RAG2

H-Invitational Database, human transcriptome db

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H-InvDBi
HIX0009568
HGNCiHGNC:9832 RAG2
HPAiHPA065704
MalaCardsiRAG2
MIMi179616 gene
233650 phenotype
601457 phenotype
603554 phenotype
neXtProtiNX_P55895
OpenTargetsiENSG00000175097
Orphaneti157949 Combined immunodeficiency with skin granulomas
39041 Omenn syndrome
331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency
PharmGKBiPA34186

GenAtlas: human gene database

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GenAtlasi
Search...

Phylogenomic databases

eggNOGiENOG410IJ5S Eukaryota
ENOG4110081 LUCA
GeneTreeiENSGT00390000012559
HOGENOMiHOG000237346
HOVERGENiHBG006694
InParanoidiP55895
KOiK10988
OMAiFGQKGWP
OrthoDBiEOG091G052K
PhylomeDBiP55895
TreeFamiTF331236

Enzyme and pathway databases

ReactomeiR-HSA-1266695 Interleukin-7 signaling
R-HSA-5687128 MAPK6/MAPK4 signaling
SIGNORiP55895

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

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ChiTaRSi
RAG2 human

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

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GenomeRNAii
5897

Protein Ontology

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PROi
PR:P55895

The Stanford Online Universal Resource for Clones and ESTs

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SOURCEi
Search...

Gene expression databases

BgeeiENSG00000175097 Expressed in 70 organ(s), highest expression level in bone marrow
CleanExiHS_RAG2
ExpressionAtlasiP55895 baseline and differential
GenevisibleiP55895 HS

Family and domain databases

CDDicd15569 PHD_RAG2, 1 hit
Gene3Di2.120.10.80, 1 hit
InterProiView protein in InterPro
IPR011043 Gal_Oxase/kelch_b-propeller
IPR015915 Kelch-typ_b-propeller
IPR004321 RAG2
IPR025162 RAG2_PHD
IPR011011 Znf_FYVE_PHD
PANTHERiPTHR10960 PTHR10960, 1 hit
PfamiView protein in Pfam
PF03089 RAG2, 1 hit
PF13341 RAG2_PHD, 1 hit
SUPFAMiSSF50965 SSF50965, 1 hit
SSF57903 SSF57903, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiRAG2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P55895
Secondary accession number(s): A8K9E9, Q8TBL4
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 1, 1997
Last sequence update: November 1, 1997
Last modified: September 12, 2018
This is version 151 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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