FCERB_HUMAN
ID FCERB_HUMAN Reviewed; 244 AA.
AC Q01362; Q54A81;
DT 01-APR-1993, integrated into UniProtKB/Swiss-Prot.
DT 01-APR-1993, sequence version 1.
DT 03-AUG-2022, entry version 177.
DE RecName: Full=High affinity immunoglobulin epsilon receptor subunit beta;
DE Short=FcERI;
DE AltName: Full=Fc epsilon receptor I beta-chain;
DE AltName: Full=IgE Fc receptor subunit beta;
DE AltName: Full=Membrane-spanning 4-domains subfamily A member 2;
GN Name=MS4A2; Synonyms=APY, FCER1B, IGER;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=1535625; DOI=10.1016/s0021-9258(18)42344-7;
RA Kuester H., Zhang L., Brini A.T., Macglashan D.W., Kinet J.-P.;
RT "The gene and cDNA for the human high affinity immunoglobulin E receptor
RT beta chain and expression of the complete human receptor.";
RL J. Biol. Chem. 267:12782-12787(1992).
RN [2]
RP NUCLEOTIDE SEQUENCE [MRNA].
RX PubMed=1386024; DOI=10.1016/0014-5793(92)80430-o;
RA Maekawa K., Imagawa N., Tanaka Y., Harada S.;
RT "Determination of the sequence coding for the beta subunit of the human
RT high-affinity IgE receptor.";
RL FEBS Lett. 302:161-165(1992).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12697656; DOI=10.1093/intimm/dxg055;
RA Akizawa Y., Nishiyama C., Hasegawa M., Maeda K., Nakahata T., Okumura K.,
RA Ra C., Ogawa H.;
RT "Regulation of human FcepsilonRI beta chain gene expression by Oct-1.";
RL Int. Immunol. 15:549-556(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC TISSUE=Lung;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA project:
RT the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [5]
RP VARIANT GLY-237, AND INVOLVEMENT IN ATOPIC ASTHMA SUSCEPTIBILITY.
RX PubMed=8817330; DOI=10.1093/hmg/5.7.959;
RA Hill M.R., Cookson W.O.;
RT "A new variant of the beta subunit of the high-affinity receptor for
RT immunoglobulin E (Fc epsilon RI-beta E237G): associations with measures of
RT atopy and bronchial hyper-responsiveness.";
RL Hum. Mol. Genet. 5:959-962(1996).
RN [6]
RP VARIANT GLY-237, AND INVOLVEMENT IN ATOPIC ASTHMA SUSCEPTIBILITY.
RX PubMed=8842731; DOI=10.1093/hmg/5.8.1129;
RA Shirakawa T., Mao X.-Q., Sasaki S., Enomoto T., Kawai M., Morimoto K.,
RA Hopkin J.;
RT "Association between atopic asthma and a coding variant of Fc-epsilon-RI-
RT beta in a Japanese population.";
RL Hum. Mol. Genet. 5:1129-1130(1996).
RN [7]
RP ERRATUM OF PUBMED:8842731.
RX PubMed=8968765;
RA Shirakawa T., Mao X.-Q., Sasaki S., Enomoto T., Kawai M., Morimoto K.,
RA Hopkin J.;
RL Hum. Mol. Genet. 5:2068-2068(1996).
CC -!- FUNCTION: High affinity receptor that binds to the Fc region of
CC immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens
CC is required for the full mast cell response, including the release of
CC preformed mediators (such as histamine) by degranulation and de novo
CC production of lipid mediators and cytokines. Also mediates the
CC secretion of important lymphokines. Binding of allergen to receptor-
CC bound IgE leads to cell activation and the release of mediators
CC responsible for the manifestations of allergy.
CC -!- SUBUNIT: Tetramer of an alpha chain, a beta chain, and two disulfide
CC linked gamma chains. Binds LILRB1. Interacts with FGR, FES/FPS and LYN
CC (By similarity). {ECO:0000250}.
CC -!- INTERACTION:
CC Q01362; Q8N2M4: TMEM86A; NbExp=5; IntAct=EBI-13384102, EBI-12015604;
CC -!- SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
CC -!- TISSUE SPECIFICITY: Found on the surface of mast cells and basophils.
CC -!- PTM: Phosphorylated on tyrosine residues by LYN. {ECO:0000250}.
CC -!- POLYMORPHISM: Variant Glu-237 has been found to be present in about
CC 5.3% of a 1004 individuals population sample in Australia
CC (PubMed:8817330). {ECO:0000269|PubMed:8817330}.
CC -!- SIMILARITY: Belongs to the MS4A family. {ECO:0000305}.
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DR EMBL; D10583; BAA01440.1; -; mRNA.
DR EMBL; M89796; AAA60269.1; -; Genomic_DNA.
DR EMBL; AB080913; BAC66486.1; -; Genomic_DNA.
DR EMBL; BC074800; AAH74800.1; -; mRNA.
DR EMBL; BC074843; AAH74843.1; -; mRNA.
DR CCDS; CCDS7980.1; -.
DR PIR; A42806; A42806.
DR RefSeq; NP_000130.1; NM_000139.4.
DR RefSeq; XP_011543152.1; XM_011544850.2.
DR AlphaFoldDB; Q01362; -.
DR BioGRID; 108500; 5.
DR CORUM; Q01362; -.
DR IntAct; Q01362; 2.
DR STRING; 9606.ENSP00000278888; -.
DR DrugBank; DB00043; Omalizumab.
DR TCDB; 1.A.37.3.2; the cd20 ca(2+) channel (cd20) family.
DR iPTMnet; Q01362; -.
DR PhosphoSitePlus; Q01362; -.
DR BioMuta; MS4A2; -.
DR DMDM; 232084; -.
DR MassIVE; Q01362; -.
DR PaxDb; Q01362; -.
DR PeptideAtlas; Q01362; -.
DR PRIDE; Q01362; -.
DR ABCD; Q01362; 2 sequenced antibodies.
DR Antibodypedia; 27859; 78 antibodies from 16 providers.
DR DNASU; 2206; -.
DR Ensembl; ENST00000278888.8; ENSP00000278888.3; ENSG00000149534.9.
DR GeneID; 2206; -.
DR KEGG; hsa:2206; -.
DR MANE-Select; ENST00000278888.8; ENSP00000278888.3; NM_000139.5; NP_000130.1.
DR UCSC; uc001nop.4; human.
DR CTD; 2206; -.
DR DisGeNET; 2206; -.
DR GeneCards; MS4A2; -.
DR HGNC; HGNC:7316; MS4A2.
DR HPA; ENSG00000149534; Tissue enhanced (lung).
DR MalaCards; MS4A2; -.
DR MIM; 147138; gene.
DR neXtProt; NX_Q01362; -.
DR OpenTargets; ENSG00000149534; -.
DR PharmGKB; PA31109; -.
DR VEuPathDB; HostDB:ENSG00000149534; -.
DR eggNOG; ENOG502TM6F; Eukaryota.
DR GeneTree; ENSGT00940000161985; -.
DR HOGENOM; CLU_093202_0_0_1; -.
DR InParanoid; Q01362; -.
DR OMA; PCHTWLI; -.
DR OrthoDB; 1048914at2759; -.
DR PhylomeDB; Q01362; -.
DR TreeFam; TF335157; -.
DR PathwayCommons; Q01362; -.
DR Reactome; R-HSA-2454202; Fc epsilon receptor (FCERI) signaling.
DR Reactome; R-HSA-2730905; Role of LAT2/NTAL/LAB on calcium mobilization.
DR Reactome; R-HSA-2871796; FCERI mediated MAPK activation.
DR Reactome; R-HSA-2871809; FCERI mediated Ca+2 mobilization.
DR Reactome; R-HSA-2871837; FCERI mediated NF-kB activation.
DR SignaLink; Q01362; -.
DR SIGNOR; Q01362; -.
DR BioGRID-ORCS; 2206; 14 hits in 1073 CRISPR screens.
DR GeneWiki; MS4A2; -.
DR GenomeRNAi; 2206; -.
DR Pharos; Q01362; Tbio.
DR PRO; PR:Q01362; -.
DR Proteomes; UP000005640; Chromosome 11.
DR RNAct; Q01362; protein.
DR Bgee; ENSG00000149534; Expressed in gall bladder and 88 other tissues.
DR ExpressionAtlas; Q01362; baseline and differential.
DR Genevisible; Q01362; HS.
DR GO; GO:0009897; C:external side of plasma membrane; IBA:GO_Central.
DR GO; GO:0032998; C:Fc-epsilon receptor I complex; IBA:GO_Central.
DR GO; GO:0005887; C:integral component of plasma membrane; NAS:UniProtKB.
DR GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR GO; GO:0019863; F:IgE binding; IEA:UniProtKB-KW.
DR GO; GO:0007166; P:cell surface receptor signaling pathway; IBA:GO_Central.
DR GO; GO:0038095; P:Fc-epsilon receptor signaling pathway; IEA:InterPro.
DR GO; GO:0006955; P:immune response; IMP:UniProtKB.
DR GO; GO:0006954; P:inflammatory response; IEA:InterPro.
DR InterPro; IPR007237; CD20-like.
DR InterPro; IPR030417; MS4A.
DR InterPro; IPR030420; MS4A2.
DR PANTHER; PTHR23320; PTHR23320; 1.
DR PANTHER; PTHR23320:SF66; PTHR23320:SF66; 1.
DR Pfam; PF04103; CD20; 1.
PE 1: Evidence at protein level;
KW Disulfide bond; IgE-binding protein; Membrane; Phosphoprotein; Receptor;
KW Reference proteome; Transmembrane; Transmembrane helix.
FT CHAIN 1..244
FT /note="High affinity immunoglobulin epsilon receptor
FT subunit beta"
FT /id="PRO_0000158629"
FT TOPO_DOM 1..59
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 60..79
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 80..97
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 98..117
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 118..130
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT TRANSMEM 131..150
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 151..180
FT /note="Extracellular"
FT /evidence="ECO:0000255"
FT TRANSMEM 181..200
FT /note="Helical"
FT /evidence="ECO:0000255"
FT TOPO_DOM 201..244
FT /note="Cytoplasmic"
FT /evidence="ECO:0000255"
FT MOD_RES 219
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:P20490"
FT MOD_RES 225
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:P20490"
FT MOD_RES 226
FT /note="Phosphoserine"
FT /evidence="ECO:0000250|UniProtKB:P20490"
FT MOD_RES 229
FT /note="Phosphotyrosine"
FT /evidence="ECO:0000250|UniProtKB:P20490"
FT VARIANT 143
FT /note="T -> M (in dbSNP:rs35033981)"
FT /id="VAR_053515"
FT VARIANT 211
FT /note="N -> K (in dbSNP:rs535630)"
FT /id="VAR_053516"
FT VARIANT 237
FT /note="E -> G (risk factor for atopic dermatitis and
FT asthma; dbSNP:rs569108)"
FT /evidence="ECO:0000269|PubMed:8817330,
FT ECO:0000269|PubMed:8842731"
FT /id="VAR_003965"
SQ SEQUENCE 244 AA; 26534 MW; CE523102D5F567AF CRC64;
MDTESNRRAN LALPQEPSSV PAFEVLEISP QEVSSGRLLK SASSPPLHTW LTVLKKEQEF
LGVTQILTAM ICLCFGTVVC SVLDISHIEG DIFSSFKAGY PFWGAIFFSI SGMLSIISER
RNATYLVRGS LGANTASSIA GGTGITILII NLKKSLAYIH IHSCQKFFET KCFMASFSTE
IVVMMLFLTI LGLGSAVSLT ICGAGEELKG NKVPEDRVYE ELNIYSATYS ELEDPGEMSP
PIDL
