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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