Gene: [15q2/B2M] beta-2-microglobulin; hemodialysis-related amyloidosis (HRA); carpal tunnel syndrome (posthemodialysis);
FUN | [1] The
beta-2-microglobulin is the beta- (or, light-) chain of MHC class I
molecules (see FAM:MHC1/06p2133). In addition, b2m polypeptides constitute
the light chains of a group of structurally related glycoproteins
recognized by antibodies of the First Cluster of Differentiation (CD1a,
CD1b and CD1c). All of the mentioned proteins are coexpressed with b2m on
many somatic cells except cells of the central nervous system. [2] Two cytokines, IFN-gamma and TNF-alpha (GEM:12q241/IFNG; GEM:06p2133/TNFA), independently increase HLA-ABC and b2m cell surface expression on many normal cells and tumor cell lines by increasing the transcription of these genes. The latter share two conserved regulatory elements, an NF kappa B-like site and the IFN consensus sequence, that act as a constitutive enhancer and an IFN-responsive element, respectively. IFN-gamma and TNF-alpha increase HLA-ABC and B2M gene expression by inducing factor binding to the regulatory elements in both genes." |
PRT | "Sequence: 119 aar;
13,714 kDa." |
GEN | [1] cDNA 549 bp (gnb:J00105/HUMB2M/01-Nov-1991;
human beta-2 micro- globulin gene mRNA, 3' end). From: Suggs SV, Wallace
RB, Hirose T, Kawashima EH, Itakura K; Use of synthetic oligonucleotides as
hybridization probes: Isolation of cloned cDNA sequences for human
beta2-micro- globulin; PNAS, 78, 6613-6617, 1981. Features: seg(1..33) ->
signal_pep(10..20); seg(34..330) -> mature_pep(21..119). [2] gDNA 1217 bp (gnb:M17986/HUMB2M01/02-Jun-1994; human beta-2- microglobulin gene, exon 1); gDNA 2871 bp (gnb:M17987/HUMB2M02/02-Jun-1994; human beta-2- microglobulin gene, exons 2, 3 and 4). From: Gussow D, Rein R, Ginjaar I, Hochstenbach F, Seemann G, Kottman A, Ploegh HL; The human beta-2-microglobulin gene: Primary structure and definition of the transcriptional unit; J Immunol, 139 (N9), 3132-3138, 1987; submitted to GNB by EJ Baas, 03-Dec-1987. Features: gene_length: ~7588 bp; 5'-seg: {M17986/1..846}; promot_maj: 5'-seg(817=cg*TTTAATATAA*gt=830); intron_1^2(~3890): {M17986(950..1217),gap_1,2(~3500),M17987(1..122)}; intron_2^3(=616): {M17987(402..1017)}; intron_3^4(=1244): {M17987(1046..2289)}; polyA_sign: {M17987(2805=ag*TTAAATAAA*tc=2817}; 3'-seg: {M17987(2824..2871)}; mRNA(=945): {exon_1:M17986(846..949) > cds_1(883..949), exon_2:M17987(123..401) = cds_2, exon_3:M17987(1018..1045) > cds_3(1018..1028), exon_4:M17987(2290..2823) is not translated}; CDS: {start(883=atg)^cds_1,cds_2,cds_3,stop(1029=taa)}; signal_pep(1..20): {cds_1(883..942)}; mature_pep(21..119): {cds_1(943..949),cds_2,cds_3}. [3] Cross-References (DNA DBs): emb:M17986/HSB2M1; emb:M17987/HSB2M2; emb:V00567/HSMGLO; emb:M30683/PTMHCBAC; emb:M30684/GGMHCBAA." |
FAG | The provisional beta-2-microglobulin regulator gene is mapped in another segment of Chr 15: GEM:15q1/B2MR." |
REF | IDN,PEP,SQA "Berggard I, Bearn AG: JBC, 243, 4095-4103,
1968 IDN,PEP,SQA "Canningham BA &: Biochemistry, 12, 4811-4821, 1973 FUN,MEB,PAT "Casey TT &: Hum Pathol, 17, 731-738, 1986 MUT,MOL "D'Urso CM &: J Clin Invest, 87, 284-292, 1991 FUN,MEB,PAT "Drew PD &: J Immunol, 150, (Part 1), N8, 3300-3310, 1993 FUN,MEB,PAT "Gejyo F &: BBRC, 129, 701-706, 1985 FUN,MEB,PAT "Gelder FB &: Ann Surg, 213, N6, 591-599, 1991 LOC,CYG "Goodfellow PN &: Nature, 254, 267-269, 1975 FUN,MEB,PAT "Gorevic PD &: PNAS, 83, N20, 7908-7912, 1986 FUN,MEB,PAT "Gorevic PD &: J Clin Invest, 76, 2425-2429, 1985 PRO,GEN,SEQ,STR "Gussow D &: J Immunol, 139, (N9), 3132-3138, 1987 FUN,MEB,PAT "Jones RA &: Scand J Immunol, 34, N1, 53-61, 1991 FUN,MEB,PAT "Kozlowski S &: Nature, 349, (Jan 3), N6304, 74-77, 1991 PRO,GEN,EXP,REL "Marincola FM &: J Immunol, 153, 1225-1236, 1994 FUN,MEB,PAT "McClure J &: Ann Rheum Dis, 45, 1007-1011, 1986 LOC,CYG "Oliver N &: CCG, 22, (HGM4), 506-510, 1978 IDN,PEP,SQA "Peterson PA &: PNAS, 69, 1697-1701, 1972 FUN,MEB,PAT "Rein RS &: J Immunol, 138, N4, 1178-1183, 1987 FUN,MEB,PAT "Reisfeld RA &: Immunogenetics, 2, 183-197, 1975 COD,SEQ,EXP "Rosa F &: EMBO J, 2, 239-243, 1983 LOC,CYG "Smith M &: Ann Hum Genet, 39, 21-31, 1975 COD,SEQ,EXP "Suggs SV &: PNAS, 78, 6613-6616, 1981 |
SWI | SWISSPROT: P01884 |
KEY | serp, imm, img |
CLA | coding, basic |
LOC | 15 q21-22.2 |
MIM | MIM: 109700 |
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