P31785

PTMD Annotation Information


※ Protein Information

Tag Content
UniProt Accession IL2RG_HUMAN; P31785;
Entrez ID 3561
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Cytokine receptor common subunit gamma (Interleukin-2 receptor subunit gamma) (IL-2 receptor subunit gamma) (IL-2R subunit gamma) (IL-2RG) (gammaC) (p64) (CD antigen CD132)
Gene Name IL2RG
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionCommon subunit for the receptors for a variety of interleukins.
Sequence
(Fasta)
MLKPSLPFTS LLFLQLPLLG VGLNTTILTP NGNEDTTADF FLTTMPTDSL SVSTLPLPEV 60
QCFVFNVEYM NCTWNSSSEP QPTNLTLHYW YKNSDNDKVQ KCSHYLFSEE ITSGCQLQKK 120
EIHLYQTFVV QLQDPREPRR QATQMLKLQN LVIPWAPENL TLHKLSESQL ELNWNNRFLN 180
HCLEHLVQYR TDWDHSWTEQ SVDYRHKFSL PSVDGQKRYT FRVRSRFNPL CGSAQHWSEW 240
SHPIHWGSNT SKENPFLFAL EAVVISVGSM GLIISLLCVY FWLERTMPRI PTLKNLEDLV 300
TEYHGNFSAW SGVSKGLAES LQPDYSERLC LVSEIPPKGG ALGEGPGASP CNQHSPYWAP 360
PCYTLKPET

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1GlycosylationImmunodeficiencyCN12515924140
[Reference]: We identified three children with mendelian susceptibility to mycobacterial disease who were homozygous with respect to a missense mutation in IFNGR2 creating a new N-glycosylation site in the IFNR2 chain.

※ Disease Cross-ref Annotation

DatabaseAnnotation
CTD (Curated)
(count: 3)
MESH:D008106 ; Liver Cirrhosis, Experimental
MESH:D012751 ; Sezary Syndrome
MESH:D053632 ; X-Linked Combined Immunodeficiency Diseases
DisGeNet (Curated)
(count: 46)
(view all)
C0001768; Agammaglobulinemia
C0002170; Alopecia
C0011606; Exfoliative dermatitis
C0013604; Edema
C0014457; Eosinophilia
C0015230; Exanthema
HGMD
(count: 172)
(view all)
CP962997; Immunodeficiency, severe combined; Complex rearrangements
CD972273; Immunodeficiency, severe combined; Small deletions
CD941711; Immunodeficiency, severe combined; Small deletions
CD972272; Immunodeficiency, severe combined; Small deletions
CD972271; Immunodeficiency, severe combined; Small deletions
CD011627; Immunodeficiency, severe combined; Small deletions

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 10)
(view all)
204       WTEQSVDYRHKFSLP     dbPAF
292       RTMPRIPTLKNLEDL     dbPAF
301       KNLEDLVTEYHGNFS     dbPAF
303       LEDLVTEYHGNFSAW     dbPAF
308       TEYHGNFSAWSGVSK     dbPAF
320       VSKGLAESLQPDYSE     dbPAF
Ubiquitination
(count: 9)
(view all)
101       SDNDKVQKCSHYLFS     PLMD
119       TSGCQLQKKEIHLYQ     PLMD
120       SGCQLQKKEIHLYQT     PLMD
147       RQATQMLKLQNLVIP     PLMD
207       QSVDYRHKFSLPSVD     PLMD
217       LPSVDGQKRYTFRVR     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource