LOCUS       NM_005534               1699 bp    mRNA    linear   PRI 10-FEB-2025
DEFINITION  Homo sapiens interferon gamma receptor 2 (IFNGR2), transcript
            variant 2, mRNA.
ACCESSION   NM_005534
VERSION     NM_005534.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1699)
  AUTHORS   Bogers,L., Rip,J., Rijvers,L., van Langelaar,J., Koetzier,S.C.,
            Kuiper,K.L., Meerdink,V., Wierenga-Wolf,A.F., Melief,M.J.,
            Marques,A.M., Smolders,J. and van Luijn,M.M.
  TITLE     Impact of coding risk variant IFNGR2 on the B cell-intrinsic
            IFN-gamma signaling pathway in multiple sclerosis
  JOURNAL   J Autoimmun 148, 103279 (2024)
   PUBMED   38972102
  REMARK    GeneRIF: Impact of coding risk variant IFNGR2 on the B
            cell-intrinsic IFN-gamma signaling pathway in multiple sclerosis.
REFERENCE   2  (bases 1 to 1699)
  AUTHORS   Zhang,Q., Zheng,Y., Liu,J., Tang,X., Wang,Y., Li,X., Li,H.,
            Zhou,X., Tang,S., Tang,Y., Wang,X., He,H. and Li,T.
  TITLE     CircIFNGR2 enhances proliferation and migration of CRC and induces
            cetuximab resistance by indirectly targeting KRAS via sponging to
            MiR-30b
  JOURNAL   Cell Death Dis 14 (1), 24 (2023)
   PUBMED   36639711
  REMARK    GeneRIF: CircIFNGR2 enhances proliferation and migration of CRC and
            induces cetuximab resistance by indirectly targeting KRAS via
            sponging to MiR-30b.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1699)
  AUTHORS   Balistreri,C.R., Ammoscato,C.L., Scola,L., Fragapane,T.,
            Giarratana,R.M., Lio,D. and Piccione,M.
  TITLE     Susceptibility to Heart Defects in Down Syndrome Is Associated with
            Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor
            Cluster and VEGFA Genes
  JOURNAL   Genes (Basel) 11 (12), 1428 (2020)
   PUBMED   33260695
  REMARK    GeneRIF: Susceptibility to Heart Defects in Down Syndrome Is
            Associated with Single Nucleotide Polymorphisms in HAS 21
            Interferon Receptor Cluster and VEGFA Genes.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1699)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   5  (bases 1 to 1699)
  AUTHORS   Oleaga-Quintas,C., Deswarte,C., Moncada-Velez,M., Metin,A., Krishna
            Rao,I., Kanik-Yuksek,S., Nieto-Patlan,A., Guerin,A., Gulhan,B.,
            Murthy,S., Ozkaya-Parlakay,A., Abel,L., Martinez-Barricarte,R.,
            Perez de Diego,R., Boisson-Dupuis,S., Kong,X.F., Casanova,J.L. and
            Bustamante,J.
  TITLE     A purely quantitative form of partial recessive IFN-gammaR2
            deficiency caused by mutations of the initiation or second codon
  JOURNAL   Hum Mol Genet 27 (22), 3919-3935 (2018)
   PUBMED   31222290
  REMARK    GeneRIF: A purely quantitative form of partial recessive
            IFN-gammaR2 deficiency caused by mutations of the initiation or
            second codon.
            Erratum:[Hum Mol Genet. 2019 Feb 1;28(3):524. doi:
            10.1093/hmg/ddy357.. PMID: 30329057]
REFERENCE   6  (bases 1 to 1699)
  AUTHORS   Kotenko,S.V., Izotova,L.S., Pollack,B.P., Mariano,T.M.,
            Donnelly,R.J., Muthukumaran,G., Cook,J.R., Garotta,G.,
            Silvennoinen,O., Ihle,J.N. et al.
  TITLE     Interaction between the components of the interferon gamma receptor
            complex
  JOURNAL   J Biol Chem 270 (36), 20915-20921 (1995)
   PUBMED   7673114
REFERENCE   7  (bases 1 to 1699)
  AUTHORS   Igarashi,K., Garotta,G., Ozmen,L., Ziemiecki,A., Wilks,A.F.,
            Harpur,A.G., Larner,A.C. and Finbloom,D.S.
  TITLE     Interferon-gamma induces tyrosine phosphorylation of
            interferon-gamma receptor and regulated association of protein
            tyrosine kinases, Jak1 and Jak2, with its receptor
  JOURNAL   J Biol Chem 269 (20), 14333-14336 (1994)
   PUBMED   7514165
REFERENCE   8  (bases 1 to 1699)
  AUTHORS   Soh,J., Donnelly,R.J., Kotenko,S., Mariano,T.M., Cook,J.R.,
            Wang,N., Emanuel,S., Schwartz,B., Miki,T. and Pestka,S.
  TITLE     Identification and sequence of an accessory factor required for
            activation of the human interferon gamma receptor
  JOURNAL   Cell 76 (5), 793-802 (1994)
   PUBMED   8124716
REFERENCE   9  (bases 1 to 1699)
  AUTHORS   Langer,J.A., Rashidbaigi,A., Lai,L.W., Patterson,D. and Jones,C.
  TITLE     Sublocalization on chromosome 21 of human interferon-alpha receptor
            gene and the gene for an interferon-gamma response protein
  JOURNAL   Somat Cell Mol Genet 16 (3), 231-240 (1990)
   PUBMED   2141727
REFERENCE   10 (bases 1 to 1699)
  AUTHORS   Luster,A.D., Weinshank,R.L., Feinman,R. and Ravetch,J.V.
  TITLE     Molecular and biochemical characterization of a novel
            gamma-interferon-inducible protein
  JOURNAL   J Biol Chem 263 (24), 12036-12043 (1988)
   PUBMED   3136170
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U05875.1, CB992729.1,
            AK292246.1 and BC003624.2.
            
            On Feb 27, 2020 this sequence version replaced NM_005534.3.
            
            Summary: This gene (IFNGR2) encodes the non-ligand-binding beta
            chain of the gamma interferon receptor. Human interferon-gamma
            receptor is a heterodimer of IFNGR1 and IFNGR2. Defects in IFNGR2
            are a cause of mendelian susceptibility to mycobacterial disease
            (MSMD), also known as familial disseminated atypical mycobacterial
            infection. MSMD is a genetically heterogeneous disease with
            autosomal recessive, autosomal dominant or X-linked inheritance.
            [provided by RefSeq, Jul 2008].
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: BC003624.2, U05877.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000290219.11/ ENSP00000290219.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 U05875.1           518-519
            3-35                CB992729.1         30-62
            36-1398             AK292246.1         1-1363
            1399-1699           BC003624.2         1383-1683
FEATURES             Location/Qualifiers
     source          1..1699
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="21"
                     /map="21q22.11"
     gene            1..1699
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /note="interferon gamma receptor 2"
                     /db_xref="GeneID:3460"
                     /db_xref="HGNC:HGNC:5440"
                     /db_xref="MIM:147569"
     exon            1..204
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     CDS             132..1145
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; interferon gamma receptor accessory factor-1;
                     interferon gamma receptor beta chain; IFN-gamma-R2;
                     IFN-gamma receptor 2; interferon gamma transducer 1;
                     IFN-gamma-R-beta"
                     /codon_start=1
                     /product="interferon gamma receptor 2 isoform 2 precursor"
                     /protein_id="NP_005525.2"
                     /db_xref="CCDS:CCDS33544.1"
                     /db_xref="GeneID:3460"
                     /db_xref="HGNC:HGNC:5440"
                     /db_xref="MIM:147569"
                     /translation="MRPTLLWSLLLLLGVFAAAAAAPPDPLSQLPAPQHPKIRLYNAE
                     QVLSWEPVALSNSTRPVVYQVQFKYTDSKWFTADIMSIGVNCTQITATECDFTAASPS
                     AGFPMDFNVTLRLRAELGALHSAWVTMPWFQHYRNVTVGPPENIEVTPGEGSLIIRFS
                     SPFDIADTSTAFFCYYVHYWEKGGIQQVKGPFRSNSISLDNLKPSRVYCLQVQAQLLW
                     NKSNIFRVGHLSNISCYETMADASTELQQVILISVGTFSLLSVLAGACFFLVLKYRGL
                     IKYWFHTPPSIPLQIEEYLKDPTQPILEALDKDSSPKDDVWDSVSIISFPEKEQEDVL
                     QTL"
     exon            205..337
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     exon            338..543
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     exon            544..692
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     exon            693..852
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     exon            853..1010
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     exon            1011..1699
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1668..1673
                     /regulatory_class="polyA_signal_sequence"
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /note="hexamer: AATAAA"
     polyA_site      1699
                     /gene="IFNGR2"
                     /gene_synonym="AF-1; IFGR2; IFNGT1; IMD28"
                     /note="major polyA site"
ORIGIN      
        1 gctgctcggg aagaggcggg ccctgcgcgc cctgcgctcg ccatggcggt ttgggcggcg
       61 acgtgagcgg ctccgcggac cccgagcggg gccccggccg cgacctgagc cgccgccgag
      121 cgcccggggc catgcgaccg acgctgctgt ggtcgctgct gctgctgctc ggagtcttcg
      181 ccgccgccgc cgcggccccg ccagaccctc tttcccagct gcccgctcct cagcacccga
      241 agattcgcct gtacaacgca gagcaggtcc tgagttggga gccagtggcc ctgagcaata
      301 gcacgaggcc tgttgtctac caagtgcagt ttaaatacac cgacagtaaa tggttcacgg
      361 ccgacatcat gtccataggg gtgaattgta cacagatcac agcaacagag tgtgacttca
      421 ctgccgccag tccctcagca ggcttcccaa tggatttcaa tgtcactcta cgccttcgag
      481 ctgagctggg agcactccat tctgcctggg tgacaatgcc ttggtttcaa cactatcgga
      541 atgtgactgt cgggcctcca gaaaacattg aggtgacccc aggagaaggc tccctcatca
      601 tcaggttctc ctctcccttt gacatcgctg atacctccac ggcctttttt tgttattatg
      661 tccattactg ggaaaaagga ggaatccaac aggtcaaagg ccctttcaga agcaactcca
      721 tttcattgga taacttaaaa ccctccagag tgtactgttt acaagtccag gcacaactgc
      781 tttggaacaa aagtaacatc tttagagtcg ggcatttaag caacatatct tgctacgaaa
      841 caatggcaga tgcctccact gagcttcagc aagtcatcct gatctccgtg ggaacatttt
      901 cgttgctgtc ggtgctggca ggagcctgtt tcttcctggt cctgaaatat agaggcctga
      961 ttaaatactg gtttcacact ccaccaagca tcccattaca gatagaagag tatttaaaag
     1021 acccaactca gcccatctta gaggccttgg acaaggacag ctcaccaaag gatgacgtct
     1081 gggactctgt gtccattatc tcgtttccgg aaaaggagca agaagatgtt ctccaaacgc
     1141 tttgaaccaa agcatgggcc tagcccactg gctccctgga agagatcaag ccatcggagc
     1201 tgctagagtt ctgtctggac tttccagaga ccagtattcc cttttgctgc ctctaaaagg
     1261 cctgtccctg cagacatgag agacagcagg tctcatgggg gtgacaagct tttttttttt
     1321 ttcttaaaga attttcaaaa tcaaattcca gaatgatttt acggagatat cccaggaaaa
     1381 ttaaggcttc tcttaaacac taaaaaggca tgtaattgct tgttagcaaa atggatatga
     1441 cacatctctg atactttttt cattattggt tgggctgagc agtcagaaga cctggtcgtc
     1501 gtcttgactt tggcaaatga gccggagccc cttgggcagg tcacacaacc tgtcccagcg
     1561 agggacaccg agtggccctt catgtacatc catggtgtgc tggcttaaaa tgtaattaat
     1621 cttgtaaata tactcctagt aatttaagat tttgttttta aactggaaat aaaagattgt
     1681 atagtgcatg ttttttaaa
//
