Details for: IL2RG

Gene ID: 3561

Symbol: IL2RG

Ensembl ID: ENSG00000147168

Description: interleukin 2 receptor subunit gamma

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 149.8600
    Cell Significance Index: -23.3100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 76.6756
    Cell Significance Index: -31.1500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 62.7653
    Cell Significance Index: -15.9200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 61.7630
    Cell Significance Index: -31.7700
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 57.6969
    Cell Significance Index: -27.2400
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 40.5799
    Cell Significance Index: -27.2300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 32.9094
    Cell Significance Index: -31.4200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 18.9058
    Cell Significance Index: -23.3100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 8.3926
    Cell Significance Index: 246.4800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 7.8864
    Cell Significance Index: -17.2600
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.9218
    Cell Significance Index: -21.2600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 6.2417
    Cell Significance Index: -24.6300
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.8686
    Cell Significance Index: 120.5600
  • Cell Name: T-helper 22 cell (CL0001042)
    Fold Change: 1.4092
    Cell Significance Index: 4.3000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6837
    Cell Significance Index: 79.6800
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6688
    Cell Significance Index: 603.8700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4435
    Cell Significance Index: 43.8800
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4429
    Cell Significance Index: 26.5900
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3717
    Cell Significance Index: 40.4400
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: 0.3702
    Cell Significance Index: 6.3600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3254
    Cell Significance Index: 61.9200
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3238
    Cell Significance Index: 52.6700
  • Cell Name: DN3 thymocyte (CL0000807)
    Fold Change: 0.2359
    Cell Significance Index: 2.3700
  • Cell Name: mature alpha-beta T cell (CL0000791)
    Fold Change: 0.2072
    Cell Significance Index: 1.1300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.2030
    Cell Significance Index: 5.4300
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0917
    Cell Significance Index: 10.8200
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0009
    Cell Significance Index: 0.0400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.0091
    Cell Significance Index: -0.4600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0145
    Cell Significance Index: -0.5100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.0255
    Cell Significance Index: -1.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0266
    Cell Significance Index: -20.1500
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.0295
    Cell Significance Index: -0.6400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0329
    Cell Significance Index: -20.5300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0330
    Cell Significance Index: -24.4800
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0378
    Cell Significance Index: -20.6200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0431
    Cell Significance Index: -1.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0431
    Cell Significance Index: -24.2900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0435
    Cell Significance Index: -19.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0438
    Cell Significance Index: -32.1100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0566
    Cell Significance Index: -1.2100
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -0.0626
    Cell Significance Index: -1.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0972
    Cell Significance Index: -20.4800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0980
    Cell Significance Index: -28.2000
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.1113
    Cell Significance Index: -4.8400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1316
    Cell Significance Index: -26.1100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.1327
    Cell Significance Index: -26.6200
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: -0.1388
    Cell Significance Index: -2.0300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1432
    Cell Significance Index: -24.4600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1454
    Cell Significance Index: -26.2100
  • Cell Name: activated type II NK T cell (CL0000931)
    Fold Change: -0.1523
    Cell Significance Index: -0.3900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1540
    Cell Significance Index: -15.7300
  • Cell Name: early promyelocyte (CL0002154)
    Fold Change: -0.1754
    Cell Significance Index: -1.1200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.1769
    Cell Significance Index: -21.7500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.1814
    Cell Significance Index: -23.2500
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.1836
    Cell Significance Index: -25.2200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2080
    Cell Significance Index: -12.7500
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2173
    Cell Significance Index: -24.9000
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2251
    Cell Significance Index: -29.0800
  • Cell Name: leukocyte (CL0000738)
    Fold Change: -0.2644
    Cell Significance Index: -4.4900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2788
    Cell Significance Index: -19.7200
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3129
    Cell Significance Index: -14.7100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.3238
    Cell Significance Index: -8.1000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.3315
    Cell Significance Index: -9.5500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.3455
    Cell Significance Index: -26.5100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3737
    Cell Significance Index: -11.9700
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3796
    Cell Significance Index: -3.9300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.3964
    Cell Significance Index: -29.5400
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4107
    Cell Significance Index: -7.5900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.4111
    Cell Significance Index: -25.9100
  • Cell Name: effector memory CD8-positive, alpha-beta T cell (CL0000913)
    Fold Change: -0.4467
    Cell Significance Index: -3.4800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.4734
    Cell Significance Index: -29.1000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.4757
    Cell Significance Index: -24.7100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.4849
    Cell Significance Index: -27.2100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5207
    Cell Significance Index: -27.3400
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.5295
    Cell Significance Index: -24.6900
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: -0.5425
    Cell Significance Index: -7.3800
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: -0.5740
    Cell Significance Index: -8.6500
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.5927
    Cell Significance Index: -30.8800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.6122
    Cell Significance Index: -17.1100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6163
    Cell Significance Index: -27.2600
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.7074
    Cell Significance Index: -19.2600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.7199
    Cell Significance Index: -27.2600
  • Cell Name: effector CD8-positive, alpha-beta T cell (CL0001050)
    Fold Change: -0.7228
    Cell Significance Index: -6.1000
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.7422
    Cell Significance Index: -26.0000
  • Cell Name: CD8-positive, alpha-beta memory T cell, CD45RO-positive (CL0001203)
    Fold Change: -0.7530
    Cell Significance Index: -7.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell (CL0000897)
    Fold Change: -0.7543
    Cell Significance Index: -7.2500
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.7671
    Cell Significance Index: -28.1600
  • Cell Name: CD4-positive, alpha-beta T cell (CL0000624)
    Fold Change: -0.7675
    Cell Significance Index: -7.1800
  • Cell Name: DN1 thymic pro-T cell (CL0000894)
    Fold Change: -0.7803
    Cell Significance Index: -8.0900
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.7925
    Cell Significance Index: -20.3700
  • Cell Name: CD8-positive, alpha-beta T cell (CL0000625)
    Fold Change: -0.8111
    Cell Significance Index: -7.6900
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.8143
    Cell Significance Index: -26.6600
  • Cell Name: CD8-positive, alpha-beta cytokine secreting effector T cell (CL0000908)
    Fold Change: -0.8149
    Cell Significance Index: -8.6700
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.8236
    Cell Significance Index: -26.0500
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.8386
    Cell Significance Index: -26.7100
  • Cell Name: T cell (CL0000084)
    Fold Change: -0.8417
    Cell Significance Index: -9.9400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.8669
    Cell Significance Index: -12.9900
  • Cell Name: type I NK T cell (CL0000921)
    Fold Change: -0.8864
    Cell Significance Index: -8.6400
  • Cell Name: CD16-positive, CD56-dim natural killer cell, human (CL0000939)
    Fold Change: -0.8885
    Cell Significance Index: -7.9100
  • Cell Name: foveolar cell of stomach (CL0002179)
    Fold Change: -0.9004
    Cell Significance Index: -5.8700

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** IL2RG is a transmembrane protein that belongs to the cytokine receptor family. It is composed of three subunits: alpha, beta, and gamma. The gamma chain is the common subunit of the IL-2 receptor, which is shared by the IL-2, IL-4, IL-7, IL-9, IL-15, and IL-21 receptors. This shared gamma chain is essential for the signaling of these cytokines, which are involved in various immune responses, including T cell proliferation, differentiation, and survival. IL2RG is a single-pass transmembrane protein with a short cytoplasmic tail. It is expressed on the surface of various immune cells, including CD4+ and CD8+ T cells, NK cells, and decidual NK cells. The expression of IL2RG is tightly regulated by transcriptional and post-transcriptional mechanisms, which ensure its proper localization and function in immune cells. **Pathways and Functions** IL2RG plays a central role in the signaling of IL-2 and other cytokines involved in immune responses. The IL-2 receptor complex, which includes IL2RG, is composed of the IL-2 receptor alpha chain, beta chain, and gamma chain. Upon binding of IL-2 to the IL-2 receptor alpha chain, the beta chain undergoes dimerization, and the gamma chain undergoes phosphorylation, leading to the activation of downstream signaling pathways. The signaling pathways initiated by IL2RG involve the activation of various kinases, including Janus kinase (JAK) and phospholipase C (PLC). These kinases phosphorylate and activate transcription factors, such as signal transducer and activator of transcription (STAT), which regulate gene expression in response to IL-2 and other cytokines. IL2RG is also involved in the regulation of T cell differentiation and proliferation. The IL-2 receptor complex plays a crucial role in the activation of T cells, which is essential for their proliferation and differentiation into effector cells. Mutations in IL2RG have been associated with impaired T cell function and immunodeficiency disorders, highlighting its importance in immune function. **Clinical Significance** IL2RG mutations have been associated with several immunodeficiency disorders, including severe combined immunodeficiency (SCID) and T cell lymphopenia. These disorders are characterized by impaired T cell function and increased susceptibility to infections. The most common cause of SCID is the mutation of the IL2RG gene, which leads to the absence or dysfunction of the gamma chain of the IL-2 receptor. This results in impaired T cell function and activation, leading to recurrent infections and immunodeficiency. In addition to its role in SCID, IL2RG is also involved in the pathogenesis of other immune-related disorders, including autoimmune diseases and cancer. The dysregulation of IL-2 signaling has been implicated in the development of autoimmune diseases, such as rheumatoid arthritis and type 1 diabetes. In conclusion, IL2RG plays a critical role in the functioning of the immune system, particularly in the regulation of T cell and natural killer cell responses. Mutations in this gene have been associated with several immunodeficiency disorders, highlighting its importance in immune function. Further research is needed to fully understand the mechanisms of IL2RG and its role in immune function and disease.

Genular Protein ID: 3866403703

Symbol: IL2RG_HUMAN

Name: Cytokine receptor common subunit gamma

UniProtKB Accession Codes:

P31785 Q5FC12

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CPTC 1 CTD 1 ChEMBL 3 ChiTaRS 1 ComplexPortal 6 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 3 DrugCentral 1 EMBL 14 EMDB 2 Ensembl 1 EvolutionaryTrace 1 ExpressionAtlas 1 GO 32 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 RNAct 1 Reactome 9 RefSeq 1 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 neXtProt 1

Citations:

PubMed ID: 1631559

Title: Cloning of the gamma chain of the human IL-2 receptor.

PubMed ID: 1631559

DOI: 10.1126/science.1631559

PubMed ID: 8514792

Title: Characterization of the human interleukin-2 receptor gamma chain gene.

PubMed ID: 8514792

DOI: 10.1016/s0021-9258(19)38691-0

PubMed ID: 8401490

Title: The interleukin-2 receptor gamma chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1.

PubMed ID: 8401490

DOI: 10.1093/hmg/2.8.1099

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8266076

Title: Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4.

PubMed ID: 8266076

DOI: 10.1126/science.8266076

PubMed ID: 8266078

Title: Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor.

PubMed ID: 8266078

DOI: 10.1126/science.8266078

PubMed ID: 8266077

Title: Interleukin-2 receptor gamma chain: a functional component of the interleukin-7 receptor.

PubMed ID: 8266077

DOI: 10.1126/science.8266077

PubMed ID: 8648694

Title: The human T-cell leukemia/lymphotropic virus type 1 p12I proteins bind the interleukin-2 receptor beta and gammac chains and affects their expression on the cell surface.

PubMed ID: 8648694

DOI: 10.1128/jvi.70.6.3599-3605.1996

PubMed ID: 12200137

Title: IL-2 receptor signaling through the Shb adapter protein in T and NK cells.

PubMed ID: 12200137

DOI: 10.1016/s0006-291x(02)02016-8

PubMed ID: 15123770

Title: Interleukin-15 enhances human neutrophil phagocytosis by a Syk-dependent mechanism: importance of the IL-15Ralpha chain.

PubMed ID: 15123770

DOI: 10.1189/jlb.0605298

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 7529123

Title: The interleukin-2 and interleukin-4 receptors studied by molecular modelling.

PubMed ID: 7529123

DOI: 10.1016/s0969-2126(94)00085-9

PubMed ID: 16293754

Title: Structure of the quaternary complex of interleukin-2 with its alpha, beta, and gammac receptors.

PubMed ID: 16293754

DOI: 10.1126/science.1117893

PubMed ID: 16477002

Title: Crystal structure of the IL-2 signaling complex: paradigm for a heterotrimeric cytokine receptor.

PubMed ID: 16477002

DOI: 10.1073/pnas.0511161103

PubMed ID: 8299698

Title: Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.

PubMed ID: 8299698

DOI: 10.1002/eji.1830240232

PubMed ID: 8088810

Title: Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.

PubMed ID: 8088810

DOI: 10.1006/geno.1994.1265

PubMed ID: 8027558

Title: Impairment of ligand binding and growth signaling of mutant IL-2 receptor gamma-chains in patients with X-linked severe combined immunodeficiency.

PubMed ID: 8027558

PubMed ID: 7937790

Title: Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.

PubMed ID: 7937790

DOI: 10.1073/pnas.91.20.9466

PubMed ID: 7668284

Title: Two mutational hotspots in the interleukin-2 receptor gamma chain gene causing human X-linked severe combined immunodeficiency.

PubMed ID: 7668284

PubMed ID: 7557965

Title: Screening for mutations causing X-linked severe combined immunodeficiency in the IL-2R gamma chain gene by single-strand conformation polymorphism analysis.

PubMed ID: 7557965

DOI: 10.1007/bf00191801

PubMed ID: 7860773

Title: Female germ line mosaicism as the origin of a unique IL-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency.

PubMed ID: 7860773

DOI: 10.1172/jci117740

PubMed ID: 7883965

Title: Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

PubMed ID: 7883965

DOI: 10.1172/jci117765

PubMed ID: 8900089

Title: Atypical X-linked severe combined immunodeficiency due to possible spontaneous reversion of the genetic defect in T cells.

PubMed ID: 8900089

DOI: 10.1056/nejm199611213352104

PubMed ID: 9150740

Title: B-cell-negative severe combined immunodeficiency associated with a common gamma chain mutation.

PubMed ID: 9150740

DOI: 10.1007/s004390050428

PubMed ID: 9049783

Title: Maternal mosaicism for a novel interleukin-2 receptor gamma-chain mutation causing X-linked severe combined immunodeficiency in a Navajo kindred.

PubMed ID: 9049783

DOI: 10.1023/a:1027332327827

PubMed ID: 9399950

Title: An interleukin-2 receptor gamma chain mutation with normal thymus morphology.

PubMed ID: 9399950

DOI: 10.1172/jci119858

Sequence Information:

  • Length: 369
  • Mass: 42287
  • Checksum: 3B6215246D610215
  • Sequence:
    • MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL SVSTLPLPEV 
QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ KCSHYLFSEE ITSGCQLQKK 
EIHLYQTFVV QLQDPREPRR QATQMLKLQN LVIPWAPENL TLHKLSESQL ELNWNNRFLN 
HCLEHLVQYR TDWDHSWTEQ SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW 
SHPIHWGSNT SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV 
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP CNQHSPYWAP 
PCYTLKPET

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.