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UniProtKB - P31785 (IL2RG_HUMAN)

Entry version 224 (12 Aug 2020)
Sequence version 1 (01 Jul 1993)
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Protein

Cytokine receptor common subunit gamma

Gene

IL2RG

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

Common subunit for the receptors for a variety of interleukins. Probably in association with IL15RA, involved in the stimulation of neutrophil phagocytosis by IL15 (PubMed:15123770).1 Publication

<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 functionReceptor
Biological processHost-virus interaction

Enzyme and pathway databases

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P31785

Reactome - a knowledgebase of biological pathways and processes

More...Reactomei		R-HSA-1266695, Interleukin-7 signaling
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling
R-HSA-8983432, Interleukin-15 signaling
R-HSA-8985947, Interleukin-9 signaling
R-HSA-9020558, Interleukin-2 signaling
R-HSA-9020958, Interleukin-21 signaling
R-HSA-912526, Interleukin receptor SHC signaling

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

More...SignaLinki		P31785

SIGNOR Signaling Network Open Resource

More...SIGNORi		P31785

<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:
Cytokine receptor common subunit gamma
Alternative name(s):
Interleukin-2 receptor subunit gamma
Short name:
IL-2 receptor subunit gamma
Short name:
IL-2R subunit gamma
Short name:
IL-2RG
gammaC
p64
CD_antigen: CD132
<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:IL2RG
<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 X

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000147168.12

Human Gene Nomenclature Database

More...HGNCi		HGNC:6010, IL2RG

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		308380, gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P31785

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini23 – 262ExtracellularSequence analysisAdd BLAST240
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei263 – 283HelicalSequence analysisAdd BLAST21
Topological domaini284 – 369CytoplasmicSequence analysisAdd BLAST86

Keywords - Cellular componenti

Cell membrane, Membrane

<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

Severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell-negative (XSCID)11 Publications
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.
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_00266839D → N in XSCID. 1 Publication1
Natural variantiVAR_00266962C → G in XSCID. 1
Natural variantiVAR_00267068E → G in XSCID. 1
Natural variantiVAR_00267168E → K in XSCID. 1 PublicationCorresponds to variant dbSNP:rs1057520644EnsemblClinVar.1
Natural variantiVAR_00267284N → K in XSCID. 1
Natural variantiVAR_00267389Y → C in XSCID. 1
Natural variantiVAR_002674105Y → C in XSCID. Corresponds to variant dbSNP:rs193922347EnsemblClinVar.1
Natural variantiVAR_002675114G → D in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033620EnsemblClinVar.1
Natural variantiVAR_002676115C → F in XSCID. 1 Publication1
Natural variantiVAR_002677115C → R in XSCID; atypical. 1 PublicationCorresponds to variant dbSNP:rs111033622EnsemblClinVar.1
Natural variantiVAR_002678123H → P in XSCID. 1
Natural variantiVAR_002679125Y → N in XSCID. 1
Natural variantiVAR_002680144Q → P in XSCID. 1
Natural variantiVAR_002681153I → N in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033621EnsemblClinVar.1
Natural variantiVAR_002682156A → V in XSCID. Corresponds to variant dbSNP:rs1057521062EnsemblClinVar.1
Natural variantiVAR_002683162L → H in XSCID. 1 Publication1
Natural variantiVAR_002684172L → P in XSCID. 1
Natural variantiVAR_002685172L → Q in XSCID. 1
Natural variantiVAR_002686182C → R in XSCID. 1
Natural variantiVAR_002687183L → S in XSCID. 1 Publication1
Natural variantiVAR_002689224R → W in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320658EnsemblClinVar.1
Natural variantiVAR_002690226R → C in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320659EnsemblClinVar.1
Natural variantiVAR_002691226R → H in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320660EnsemblClinVar.1
Natural variantiVAR_002692227F → C in XSCID. 1
Natural variantiVAR_002693230L → P in XSCID. 1
Natural variantiVAR_002694231C → Y in XSCID. 1
Natural variantiVAR_002695232G → R in XSCID. 1
Natural variantiVAR_002696237W → WQHW in XSCID. 1 Publication1
Natural variantiVAR_002697240W → C in XSCID. 1 Publication1
Natural variantiVAR_002698241S → I in XSCID. 1 Publication1
Natural variantiVAR_002699270M → R in XSCID. 1
Natural variantiVAR_002701285R → Q in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033617EnsemblClinVar.1
X-linked combined immunodeficiency (XCID)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionLess severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_002688222R → C in XCID. 1 PublicationCorresponds to variant dbSNP:rs111033618EnsemblClinVar.1
Natural variantiVAR_002702293L → Q in XCID. 1 PublicationCorresponds to variant dbSNP:rs137852510EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, SCID

Organism-specific databases

DisGeNET

More...DisGeNETi		3561

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		IL2RG

MalaCards human disease database

More...MalaCardsi		IL2RG
MIMi300400, phenotype
312863, phenotype

Open Targets

More...OpenTargetsi		ENSG00000147168

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

More...Orphaneti		39041, Omenn syndrome
276, T-B+ severe combined immunodeficiency due to gamma chain deficiency

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA196

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P31785, Tclin

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2364167

Drug and drug target database

More...DrugBanki		DB00041, Aldesleukin
DB00004, Denileukin diftitox
DB05943, Resatorvid

DrugCentral

More...DrugCentrali		P31785

IUPHAR/BPS Guide to PHARMACOLOGY

More...GuidetoPHARMACOLOGYi		2303

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		IL2RG

Domain mapping of disease mutations (DMDM)

More...DMDMi		400048

<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 denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22Add BLAST22
<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_000001086623 – 369Cytokine receptor common subunit gammaAdd BLAST347

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi24N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi62 ↔ 72
Glycosylationi71N-linked (GlcNAc...) asparagine2 Publications1
Glycosylationi75N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi84N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi102 ↔ 115
Glycosylationi159N-linked (GlcNAc...) asparagine2 Publications1
Disulfide bondi182 ↔ 231
Glycosylationi249N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the 'PTM / Processing' section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei292PhosphothreonineCombined sources1

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...EPDi		P31785

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P31785

MaxQB - The MaxQuant DataBase

More...MaxQBi		P31785

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

More...PaxDbi		P31785

PeptideAtlas

More...PeptideAtlasi		P31785

PRoteomics IDEntifications database

More...PRIDEi		P31785

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54802 [P31785-1]
62802

PTM databases

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P31785, 8 sites

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P31785

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

More...PhosphoSitePlusi		P31785

<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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000147168, Expressed in granulocyte and 188 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P31785, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P31785, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000147168, Group enriched (blood, lymphoid tissue)

<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

The gamma subunit is common to the IL2, IL4, IL7, IL15, IL21 and probably also the IL13 receptors.

Interacts with SHB upon interleukin stimulation.

3 Publications

(Microbial infection) Interacts with HTLV-1 accessory protein p12I.

1 Publication

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		109776, 24 interactors

CORUM comprehensive resource of mammalian protein complexes

More...CORUMi		P31785

Database of interacting proteins

More...DIPi		DIP-173N

Protein interaction database and analysis system

More...IntActi		P31785, 18 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000363318

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P31785, 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

Secondary structure

1369
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

More...SMRi		P31785

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		Search...

Miscellaneous databases

Relative evolutionary importance of amino acids within a protein sequence

More...EvolutionaryTracei		P31785

<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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family%5Fand%5Fdomains%5Fsection">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini156 – 253Fibronectin type-IIIPROSITE-ProRule annotationAdd BLAST98

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi237 – 241WSXWS motif5
Motifi286 – 294Box 1 motif9

<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 WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.
The box 1 motif is required for JAK interaction and/or activation.

<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 type I cytokine receptor family. Type 5 subfamily.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		ENOG502S289, Eukaryota

Ensembl GeneTree

More...GeneTreei		ENSGT00510000048979

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_060544_1_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P31785

KEGG Orthology (KO)

More...KOi		K05070

Identification of Orthologs from Complete Genome Data

More...OMAi		MPRIPNP

Database of Orthologous Groups

More...OrthoDBi		753404at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P31785

TreeFam database of animal gene trees

More...TreeFami		TF333657

Family and domain databases

Conserved Domains Database

More...CDDi		cd00063, FN3, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		2.60.40.10, 2 hits

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR003531, Hempt_rcpt_S_F1_CS
IPR013783, Ig-like_fold
IPR015321, TypeI_recpt_CBD

Pfam protein domain database

More...Pfami		View protein in Pfam
PF09240, IL6Ra-bind, 1 hit

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF49265, SSF49265, 2 hits

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS50853, FN3, 1 hit
PS01355, HEMATOPO_REC_S_F1, 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>Sequences (2+)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.

<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 in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 <p>This subsection of the 'Sequence' section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform. This section is only present in reviewed entries, i.e. in UniProtKB/Swiss-Prot.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P31785-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL 
        60         70         80         90        100
SVSTLPLPEV QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ 
       110        120        130        140        150
KCSHYLFSEE ITSGCQLQKK EIHLYQTFVV QLQDPREPRR QATQMLKLQN 
       160        170        180        190        200
LVIPWAPENL TLHKLSESQL ELNWNNRFLN HCLEHLVQYR TDWDHSWTEQ 
       210        220        230        240        250
SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW SHPIHWGSNT 
       260        270        280        290        300
SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV 
       310        320        330        340        350
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP 
       360 
CNQHSPYWAP PCYTLKPET
Length:369
Mass (Da):42,287
Last modified:July 1, 1993 - 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:i3B6215246D610215
GO
Isoform 2 (identifier: P31785-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-8: MLKPSLPF → MGMKTPQL
     9-198: Missing.

Show »
Length:179
Mass (Da):20,088
Checksum:i4A3D790462553D0A
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 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
D6RDW9D6RDW9_HUMAN
Cytokine receptor common subunit ga...
IL2RG
219Annotation 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>
H0Y8J6H0Y8J6_HUMAN
Cytokine receptor common subunit ga...
IL2RG
65Annotation 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>
D6R964D6R964_HUMAN
Cytokine receptor common subunit ga...
IL2RG
99Annotation 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>
Q5FC10Q5FC10_HUMAN
Cytokine receptor common subunit ga...
IL2RG
98Annotation 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>

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00266839D → N in XSCID. 1 Publication1
Natural variantiVAR_05930144T → S. Corresponds to variant dbSNP:rs7885041Ensembl.1
Natural variantiVAR_00266962C → G in XSCID. 1
Natural variantiVAR_00267068E → G in XSCID. 1
Natural variantiVAR_00267168E → K in XSCID. 1 PublicationCorresponds to variant dbSNP:rs1057520644EnsemblClinVar.1
Natural variantiVAR_00267284N → K in XSCID. 1
Natural variantiVAR_00267389Y → C in XSCID. 1
Natural variantiVAR_002674105Y → C in XSCID. Corresponds to variant dbSNP:rs193922347EnsemblClinVar.1
Natural variantiVAR_020611109E → K1 PublicationCorresponds to variant dbSNP:rs17875899EnsemblClinVar.1
Natural variantiVAR_002675114G → D in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033620EnsemblClinVar.1
Natural variantiVAR_002676115C → F in XSCID. 1 Publication1
Natural variantiVAR_002677115C → R in XSCID; atypical. 1 PublicationCorresponds to variant dbSNP:rs111033622EnsemblClinVar.1
Natural variantiVAR_002678123H → P in XSCID. 1
Natural variantiVAR_002679125Y → N in XSCID. 1
Natural variantiVAR_002680144Q → P in XSCID. 1
Natural variantiVAR_002681153I → N in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033621EnsemblClinVar.1
Natural variantiVAR_002682156A → V in XSCID. Corresponds to variant dbSNP:rs1057521062EnsemblClinVar.1
Natural variantiVAR_002683162L → H in XSCID. 1 Publication1
Natural variantiVAR_002684172L → P in XSCID. 1
Natural variantiVAR_002685172L → Q in XSCID. 1
Natural variantiVAR_002686182C → R in XSCID. 1
Natural variantiVAR_002687183L → S in XSCID. 1 Publication1
Natural variantiVAR_002688222R → C in XCID. 1 PublicationCorresponds to variant dbSNP:rs111033618EnsemblClinVar.1
Natural variantiVAR_002689224R → W in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320658EnsemblClinVar.1
Natural variantiVAR_002690226R → C in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320659EnsemblClinVar.1
Natural variantiVAR_002691226R → H in XSCID. 1 PublicationCorresponds to variant dbSNP:rs869320660EnsemblClinVar.1
Natural variantiVAR_002692227F → C in XSCID. 1
Natural variantiVAR_002693230L → P in XSCID. 1
Natural variantiVAR_002694231C → Y in XSCID. 1
Natural variantiVAR_002695232G → R in XSCID. 1
Natural variantiVAR_002696237W → WQHW in XSCID. 1 Publication1
Natural variantiVAR_002697240W → C in XSCID. 1 Publication1
Natural variantiVAR_002698241S → I in XSCID. 1 Publication1
Natural variantiVAR_002699270M → R in XSCID. 1
Natural variantiVAR_002701285R → Q in XSCID. 1 PublicationCorresponds to variant dbSNP:rs111033617EnsemblClinVar.1
Natural variantiVAR_002702293L → Q in XCID. 1 PublicationCorresponds to variant dbSNP:rs137852510EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_0475811 – 8MLKPSLPF → MGMKTPQL in isoform 2. 1 Publication8
Alternative sequenceiVSP_0475829 – 198Missing in isoform 2. 1 PublicationAdd BLAST190

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
D11086 mRNA Translation: BAA01857.1
L12183 L12182 Genomic DNA Translation: AAA59145.1
L19546 Genomic DNA Translation: AAC37524.1
AB102794 mRNA Translation: BAD89385.1
AY692262 Genomic DNA Translation: AAT85803.1
AL590764 Genomic DNA No translation available.
BC014972 mRNA Translation: AAH14972.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS14406.1 [P31785-1]

Protein sequence database of the Protein Information Resource

More...PIRi		A42565

NCBI Reference Sequences

More...RefSeqi		NP_000197.1, NM_000206.2 [P31785-1]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000374202; ENSP00000363318; ENSG00000147168 [P31785-1]
ENST00000456850; ENSP00000388967; ENSG00000147168 [P31785-2]

Database of genes from NCBI RefSeq genomes

More...GeneIDi		3561

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:3561

UCSC genome browser

More...UCSCi		uc004dyw.4, human [P31785-1]

Keywords - Coding sequence diversityi

Alternative splicing, 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%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

IL2RGbase

X-linked SCID mutation database

SeattleSNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
D11086 mRNA Translation: BAA01857.1
L12183 L12182 Genomic DNA Translation: AAA59145.1
L19546 Genomic DNA Translation: AAC37524.1
AB102794 mRNA Translation: BAD89385.1
AY692262 Genomic DNA Translation: AAT85803.1
AL590764 Genomic DNA No translation available.
BC014972 mRNA Translation: AAH14972.1
CCDSiCCDS14406.1 [P31785-1]
PIRiA42565
RefSeqiNP_000197.1, NM_000206.2 [P31785-1]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...PDBei

Protein Data Bank RCSB

More...RCSB PDBi

Protein Data Bank Japan

More...PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1ILLmodel-G57-248[»]
1ILMmodel-G57-248[»]
1ILNmodel-G57-248[»]
1ITEmodel-B23-254[»]
2B5IX-ray2.30C56-254[»]
2ERJX-ray3.00C/G23-255[»]
3BPLX-ray2.93C56-254[»]
3QAZX-ray3.80C/F/I/L/O/R/U/X/a/d/g/j56-254[»]
3QB7X-ray3.24C/D55-254[»]
4GS7X-ray2.35C55-254[»]
5M5EX-ray2.30C23-262[»]
6OELX-ray3.10C61-249[»]
SMRiP31785
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi109776, 24 interactors
CORUMiP31785
DIPiDIP-173N
IntActiP31785, 18 interactors
STRINGi9606.ENSP00000363318

Chemistry databases

ChEMBLiCHEMBL2364167
DrugBankiDB00041, Aldesleukin
DB00004, Denileukin diftitox
DB05943, Resatorvid
DrugCentraliP31785
GuidetoPHARMACOLOGYi2303

PTM databases

GlyGeniP31785, 8 sites
iPTMnetiP31785
PhosphoSitePlusiP31785

Polymorphism and mutation databases

BioMutaiIL2RG
DMDMi400048

Proteomic databases

EPDiP31785
MassIVEiP31785
MaxQBiP31785
PaxDbiP31785
PeptideAtlasiP31785
PRIDEiP31785
ProteomicsDBi54802 [P31785-1]
62802

Protocols and materials databases

ABCD curated depository of sequenced antibodies

More...ABCDi		P31785, 1 sequenced antibody

Antibodypedia a portal for validated antibodies

More...Antibodypediai		27479, 586 antibodies

The DNASU plasmid repository

More...DNASUi		3561

Genome annotation databases

EnsembliENST00000374202; ENSP00000363318; ENSG00000147168 [P31785-1]
ENST00000456850; ENSP00000388967; ENSG00000147168 [P31785-2]
GeneIDi3561
KEGGihsa:3561
UCSCiuc004dyw.4, human [P31785-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		3561
DisGeNETi3561
EuPathDBiHostDB:ENSG00000147168.12

GeneCards: human genes, protein and diseases

More...GeneCardsi		IL2RG
GeneReviewsiIL2RG
HGNCiHGNC:6010, IL2RG
HPAiENSG00000147168, Group enriched (blood, lymphoid tissue)
MalaCardsiIL2RG
MIMi300400, phenotype
308380, gene
312863, phenotype
neXtProtiNX_P31785
OpenTargetsiENSG00000147168
Orphaneti39041, Omenn syndrome
276, T-B+ severe combined immunodeficiency due to gamma chain deficiency
PharmGKBiPA196

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiENOG502S289, Eukaryota
GeneTreeiENSGT00510000048979
HOGENOMiCLU_060544_1_0_1
InParanoidiP31785
KOiK05070
OMAiMPRIPNP
OrthoDBi753404at2759
PhylomeDBiP31785
TreeFamiTF333657

Enzyme and pathway databases

PathwayCommonsiP31785
ReactomeiR-HSA-1266695, Interleukin-7 signaling
R-HSA-5673001, RAF/MAP kinase cascade
R-HSA-6785807, Interleukin-4 and Interleukin-13 signaling
R-HSA-8983432, Interleukin-15 signaling
R-HSA-8985947, Interleukin-9 signaling
R-HSA-9020558, Interleukin-2 signaling
R-HSA-9020958, Interleukin-21 signaling
R-HSA-912526, Interleukin receptor SHC signaling
SignaLinkiP31785
SIGNORiP31785

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		3561, 6 hits in 501 CRISPR screens

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

More...ChiTaRSi		IL2RG, human
EvolutionaryTraceiP31785

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Common_gamma_chain

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

More...GenomeRNAii		3561
PharosiP31785, Tclin

Protein Ontology

More...PROi		PR:P31785
RNActiP31785, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000147168, Expressed in granulocyte and 188 other tissues
ExpressionAtlasiP31785, baseline and differential
GenevisibleiP31785, HS

Family and domain databases

CDDicd00063, FN3, 1 hit
Gene3Di2.60.40.10, 2 hits
InterProiView protein in InterPro
IPR003961, FN3_dom
IPR036116, FN3_sf
IPR003531, Hempt_rcpt_S_F1_CS
IPR013783, Ig-like_fold
IPR015321, TypeI_recpt_CBD
PfamiView protein in Pfam
PF09240, IL6Ra-bind, 1 hit
SUPFAMiSSF49265, SSF49265, 2 hits
PROSITEiView protein in PROSITE
PS50853, FN3, 1 hit
PS01355, HEMATOPO_REC_S_F1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

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 nameiIL2RG_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: P31785
Secondary accession number(s): Q5FC12
<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: July 1, 1993
Last sequence update: July 1, 1993
Last modified: August 12, 2020
This is version 224 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

3D-structure, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome X
    Human chromosome X: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families
  7. Human cell differentiation molecules
    CD nomenclature of surface proteins of human leucocytes and list of entries
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