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UniProtKB - P55895 (RAG2_HUMAN)

Entry version 169 (23 Feb 2022)
Sequence version 1 (01 Nov 1997)
Previous versions | rss
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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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P55895

Reactome - a knowledgebase of biological pathways and processes

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

SignaLink: a signaling pathway resource with multi-layered regulatory networks

More...SignaLinki		P55895

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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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

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

Eukaryotic Pathogen, Vector and Host Database Resources

More...VEuPathDBi		HostDB:ENSG00000175097

<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

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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
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 variants 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.
Related information in OMIM
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 variant, SCID

Organism-specific databases

DisGeNET

More...DisGeNETi		5897

MalaCards human disease database

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

Open Targets

More...OpenTargetsi		ENSG00000175097

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

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

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34186

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P55895, Tbio

Genetic variation 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 or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001671371 – 527V(D)J recombination-activating protein 2Add BLAST527

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

More...jPOSTi		P55895

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

More...PaxDbi		P55895

PRoteomics IDEntifications database

More...PRIDEi		P55895

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P55895

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

More...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

More...Bgeei		ENSG00000175097, Expressed in bone marrow and 101 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P55895, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P55895, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000175097, Tissue enriched (lymphoid)

<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%5Fsection">'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%5Fsection">'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

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111833, 7 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P55895

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000478672

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P55895, protein

<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

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

More...SMRi		P55895

Database of comparative protein structure models

More...ModBasei		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

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni357 – 380DisorderedSequence analysisAdd BLAST24

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes the position of regions of compositional bias within the protein and the particular type of amino acids that are over-represented within those regions.<p><a href='/help/compbias' target='_top'>More...</a></p>Compositional biasi357 – 374Polar residuesSequence analysisAdd BLAST18

<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

More...eggNOGi		ENOG502QVKU, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00390000012559

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_516740_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P55895

Identification of Orthologs from Complete Genome Data

More...OMAi		WNSVVDC

Database of Orthologous Groups

More...OrthoDBi		687724at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P55895

TreeFam database of animal gene trees

More...TreeFami		TF331236

Family and domain databases

Conserved Domains Database

More...CDDi		cd15569, PHD_RAG2, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.120.10.80, 1 hit

Integrated resource of protein families, domains and functional sites

More...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

More...PANTHERi		PTHR10960, PTHR10960, 1 hit

Pfam protein domain database

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

Superfamily database of structural and functional annotation

More...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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...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

More...CCDSi		CCDS7903.1

NCBI Reference Sequences

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

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000311485; ENSP00000308620; ENSG00000175097
ENST00000618712; ENSP00000478672; ENSG00000175097

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5897

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5897

Matched Annotation from NCBI and EMBL-EBI (MANE) - Phase one

More...MANE-Selecti		ENST00000311485.8; ENSP00000308620.4; NM_000536.4; NP_000527.2

UCSC genome browser

More...UCSCi		uc001mwv.5, human

<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%5Freferences%5Fsection">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

3D structure databases

SMRiP55895
ModBaseiSearch...

Protein-protein interaction databases

BioGRIDi111833, 7 interactors
CORUMiP55895
STRINGi9606.ENSP00000478672

PTM databases

iPTMnetiP55895
PhosphoSitePlusiP55895

Genetic variation databases

BioMutaiRAG2
DMDMi2498830

Proteomic databases

jPOSTiP55895
PaxDbiP55895
PRIDEiP55895

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		26023, 274 antibodies from 33 providers

The DNASU plasmid repository

More...DNASUi		5897

Genome annotation databases

EnsembliENST00000311485; ENSP00000308620; ENSG00000175097
ENST00000618712; ENSP00000478672; ENSG00000175097
GeneIDi5897
KEGGihsa:5897
MANE-SelectiENST00000311485.8; ENSP00000308620.4; NM_000536.4; NP_000527.2
UCSCiuc001mwv.5, human

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5897
DisGeNETi5897

GeneCards: human genes, protein and diseases

More...GeneCardsi		RAG2
HGNCiHGNC:9832, RAG2
HPAiENSG00000175097, Tissue enriched (lymphoid)
MalaCardsiRAG2
MIMi179616, gene
233650, phenotype
601457, phenotype
603554, phenotype
neXtProtiNX_P55895
OpenTargetsiENSG00000175097
Orphaneti157949, Combined immunodeficiency with granulomatosis
39041, Omenn syndrome
331206, Severe combined immunodeficiency due to complete RAG1/2 deficiency
PharmGKBiPA34186
VEuPathDBiHostDB:ENSG00000175097

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502QVKU, Eukaryota
GeneTreeiENSGT00390000012559
HOGENOMiCLU_516740_0_0_1
InParanoidiP55895
OMAiWNSVVDC
OrthoDBi687724at2759
PhylomeDBiP55895
TreeFamiTF331236

Enzyme and pathway databases

PathwayCommonsiP55895
ReactomeiR-HSA-1266695, Interleukin-7 signaling
R-HSA-5687128, MAPK6/MAPK4 signaling
SignaLinkiP55895
SIGNORiP55895

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5897, 6 hits in 1042 CRISPR screens

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

More...ChiTaRSi		RAG2, human

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

More...GenomeRNAii		5897
PharosiP55895, Tbio

Protein Ontology

More...PROi		PR:P55895
RNActiP55895, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000175097, Expressed in bone marrow and 101 other tissues
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

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<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%5Fand%5Fisoforms">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: February 23, 2022
This is version 169 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

Reference proteome

Documents

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