P38484

PTMD Annotation Information

※ Protein Information

Tag Content
UniProt Accession INGR2_HUMAN; P38484;
Entrez ID 3460
GenBank Protein ID
GenBank Nucleotide ID
Protein Name Interferon gamma receptor 2 (IFN-gamma receptor 2) (IFN-gamma-R2) (Interferon gamma receptor accessory factor 1) (AF-1) (Interferon gamma receptor beta-chain) (IFN-gamma-R-beta) (Interferon gamma transducer 1)
Gene Name IFNGR2; IFNGT1
Organism Homo sapiens
NCBI Taxa ID 9606
Functional DescriptionAssociates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:8124716, PubMed:7673114,PubMed:7615558). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:8124716, PubMed:7673114, PubMed:15356148). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114).
Sequence
(Fasta)		MRPTLLWSLL LLLGVFAAAA AAPPDPLSQL PAPQHPKIRL YNAEQVLSWE PVALSNSTRP 60
VVYQVQFKYT DSKWFTADIM SIGVNCTQIT ATECDFTAAS PSAGFPMDFN VTLRLRAELG 120
ALHSAWVTMP WFQHYRNVTV GPPENIEVTP GEGSLIIRFS SPFDIADTST AFFCYYVHYW 180
EKGGIQQVKG PFRSNSISLD NLKPSRVYCL QVQAQLLWNK SNIFRVGHLS NISCYETMAD 240
ASTELQQVIL ISVGTFSLLS VLAGACFFLV LKYRGLIKYW FHTPPSIPLQ IEEYLKDPTQ 300
PILEALDKDS SPKDDVWDSV SIISFPEKEQ EDVLQTL 338

※ PTM-Disease Association

NumPTMDiseaseCell TypeTypePTM SitePMID
1N-linked glycosylationAtypical mycobacteriosisCN16815924140
[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: 1)		OMIM:614889 ; IMMUNODEFICIENCY 28
DisGeNet (Curated)
(count: 5)		C0021051; Immunologic Deficiency Syndromes
C0026919; Mycobacterium Infections, Nontuberculous
C4013947; IMMUNODEFICIENCY 28
C4020899; Autosomal recessive predisposition
C4023438; Recurrent mycobacterial infections
HGMD
(count: 6)		CD982709; Mycobacterial infection; Small deletions
CD042868; Mycobacterial infection; Small deletions
CG052713; Mycobacterial infection; Gross deletions
CI084285; Mycobacterial infection; Small insertions
CM004651; Mycobacterial infection; Missense/nonsense CM051938; Mycobacterial infection; Missense/nonsense
GWASdb
(count: 5)		rs2284553; Crohn's disease; Crohn's disease
rs2268241; Obesity-related traits; obesity
rs9808753; Coronary artery calcification; coronary artery disease
rs2834213; Insulin resistance; type 2 diabetes mellitus
rs2834215; Crohn's disease; Crohn's disease

※ PTM Sites

PTM Modification Sites
Phosphorylation
(count: 1)		 198       PFRSNSISLDNLKPS     dbPAF
Ubiquitination
(count: 1)		 328       SIISFPEKEQEDVLQ     PLMD

※ Protein-Protein Interaction

NetworkInteraction
ABSource