IFNGR2
entrez
3460
canonical
uniprot
P38484
canonical
ensembl
ENSG00000159128
resolver
ensembl
ENSG00000262795
resolver
ensp
ENSP00000290219
resolver
ensp
ENSP00000371425
resolver
ensp
ENSP00000458487
resolver
enst
ENST00000290219
resolver
enst
ENST00000381995
resolver
enst
ENST00000576463
resolver
genesymbol
IFNGR2
resolver
genesymbol_syn
IFNGT1
resolver
hgnc
HGNC:5440
resolver
uniprot
A8K881
resolver
uniprot
E7EUY1
resolver
uniprot
Q9BTL5
resolver
uniprot_entry
A8K881_HUMAN
resolver
uniprot_entry
E7EUY1_HUMAN
resolver
uniprot_entry
INGR2_HUMAN
resolver
uniprot_sec
Q9BTL5
resolver
amino_acid_sequence
MRPTLLWSLLLLLGVFAAAAAAPPDPLSQLPAPQHPKIRLYNAEQVLSWEPVALSNSTRPVVYQVQFKYTDSKWFTADIMSIGVNCTQITATECDFTAASPSAGFPMDFNVTLRLRAELGALHSAWVTMPWFQHYRNVTVGPPENIEVTPGEGSLIIRFSSPFDIADTSTAFFCYYVHYWEKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLWNKSNIFRVGHLSNISCYETMADASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGLIKYWFHTPPSIPLQIEEYLKDPTQPILEALDKDSSPKDDVWDSVSIISFPEKEQEDVLQTL
uniprot
proteins
disease_involvement
DISEASE: Immunodeficiency 28 (IMD28) [MIM:614889]: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD28 is an autosomal recessive disease that manifests early in life, with severe, often fatal, infection. {ECO:0000269|PubMed:10608793, ECO:0000269|PubMed:15924140, ECO:0000269|PubMed:22902943, ECO:0000269|PubMed:23963039}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: Associates with IFNGR1 to form a receptor for the cytokine interferon gamma (IFNG) (PubMed:7615558, PubMed:7673114, PubMed:8124716). Ligand binding stimulates activation of the JAK/STAT signaling pathway (PubMed:15356148, PubMed:7673114, PubMed:8124716). Required for signal transduction in contrast to other receptor subunit responsible for ligand binding (PubMed:7673114). {ECO:0000269|PubMed:15356148, ECO:0000269|PubMed:7615558, ECO:0000269|PubMed:7673114, ECO:0000269|PubMed:8124716}.
uniprot
proteins
mass_dalton
37806
uniprot
proteins
mutagenesis
MUTAGEN 110; /note="N->Q: Complete inhibition of transport to the cell membrane."; /evidence="ECO:0000269|PubMed:27599734"; MUTAGEN 137; /note="N->Q: Complete inhibition of transport to the cell membrane."; /evidence="ECO:0000269|PubMed:27599734"; MUTAGEN 168; /note="T->A,Q: Does not affect function."; /evidence="ECO:0000269|PubMed:15924140"; MUTAGEN 231; /note="N->Q: Complete inhibition of transport to the cell membrane."; /evidence="ECO:0000269|PubMed:27599734"; MUTAGEN 274..275; /note="Missing: Leads to overaccumulation on the cell membrane."; /evidence="ECO:0000269|PubMed:15356148"; MUTAGEN 276..277; /note="LI->AA: Leads to overaccumulation on the cell membrane. Enhances function."; /evidence="ECO:0000269|PubMed:15356148"; MUTAGEN 276..277; /note="Missing: Leads to overaccumulation on the cell membrane. Enhances function."; /evidence="ECO:0000269|PubMed:15356148"; MUTAGEN 276; /note="L->A: Leads to small increase in accumulation on the cell membrane."; /evidence="ECO:0000269|PubMed:15356148"; MUTAGEN 277; /note="I->A: Does not affect accumulation on the cell membrane."; /evidence="ECO:0000269|PubMed:15356148"; MUTAGEN 278..279; /note="Missing: Does not affect accumulation on the cell membrane."; /evidence="ECO:0000269|PubMed:15356148
uniprot
proteins
protein_family
Type II cytokine receptor family
uniprot
proteins
pubmed
10605012
uniprot
proteins
pubmed
10608793
uniprot
proteins
pubmed
15356148
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15924140
uniprot
proteins
pubmed
22902943
uniprot
proteins
pubmed
23963039
uniprot
proteins
pubmed
27599734
uniprot
proteins
pubmed
7615558
uniprot
proteins
pubmed
7673114
uniprot
proteins
pubmed
8124716
uniprot
proteins
pubmed
8910544
uniprot
proteins
sequence_length
337
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Cell membrane {ECO:0000269|PubMed:15356148, ECO:0000269|PubMed:15924140, ECO:0000269|PubMed:27599734}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:10605012}; Single-pass type I membrane protein {ECO:0000255}. Golgi apparatus membrane {ECO:0000269|PubMed:23963039}; Single-pass type I membrane protein {ECO:0000255}. Endoplasmic reticulum membrane {ECO:0000269|PubMed:23963039}; Single-pass type I membrane protein {ECO:0000255}. Cytoplasm {ECO:0000269|PubMed:10605012}. Note=Has low cell surface expression and high cytoplasmic expression in T cells. The bias towards cytoplasmic expression may be due to ligand-independent receptor internalization and recycling. {ECO:0000269|PubMed:10605012, ECO:0000269|PubMed:15356148}.
uniprot
proteins
transmembrane_region
TRANSMEM 248..268; /note="Helical"; /evidence="ECO:0000255
uniprot
proteins