LOCUS       NM_004048                943 bp    mRNA    linear   PRI 24-SEP-2024
DEFINITION  Homo sapiens beta-2-microglobulin (B2M), mRNA.
ACCESSION   NM_004048
VERSION     NM_004048.4
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 943)
  AUTHORS   Li,K., Chai,D., Ren,S., Lian,X., Shi,X., Xu,Y., Bao,L., Yang,S.,
            Liang,Y., Li,X. and Du,H.
  TITLE     beta2-microglobulin induced apoptosis of tumor cells via the ERK
            signaling pathway by directly interacting with HFE in
            HER2-overexpressing breast cancer
  JOURNAL   BMC Cancer 24 (1), 991 (2024)
   PUBMED   39128984
  REMARK    GeneRIF: beta2-microglobulin induced apoptosis of tumor cells via
            the ERK signaling pathway by directly interacting with HFE in
            HER2-overexpressing breast cancer.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 943)
  AUTHORS   Jheng,J.R., DesJardin,J.T., Chen,Y.Y., Huot,J.R., Bai,Y., Cook,T.,
            Hibbard,L.M., Rupp,J.M., Fisher,A., Zhang,Y., Duarte,J.D.,
            Desai,A.A., Machado,R.F., Simon,M.A. and Lai,Y.C.
  TITLE     Plasma Proteomics Identifies B2M as a Regulator of Pulmonary
            Hypertension in Heart Failure With Preserved Ejection Fraction
  JOURNAL   Arterioscler Thromb Vasc Biol 44 (7), 1570-1583 (2024)
   PUBMED   38813697
  REMARK    GeneRIF: Plasma Proteomics Identifies B2M as a Regulator of
            Pulmonary Hypertension in Heart Failure With Preserved Ejection
            Fraction.
REFERENCE   3  (bases 1 to 943)
  AUTHORS   Fujita,Y., Shinkai,S., Taniguchi,Y., Miura,Y., Tanaka,M.,
            Ohsawa,I., Kitamura,A. and Ito,M.
  TITLE     Association Between Serum GDF15 Concentration and Total Mortality
            in Community-Dwelling Japanese Older Populations: The Involvement
            of Renal Dysfunction
  JOURNAL   J Gerontol A Biol Sci Med Sci 78 (9), 1701-1707 (2023)
   PUBMED   37190783
  REMARK    GeneRIF: Association Between Serum GDF15 Concentration and Total
            Mortality in Community-Dwelling Japanese Older Populations: The
            Involvement of Renal Dysfunction.
REFERENCE   4  (bases 1 to 943)
  AUTHORS   Ugolini,F., Szumera-Cieckiewicz,A., Baroni,G., Nesi,G., Mandala,M.,
            Ferrone,S. and Massi,D.
  TITLE     Differential HLA class I subunit (A, B, C heavy chain and
            beta2-microglobulin) expression levels in normal tissues
  JOURNAL   Virchows Arch 482 (2), 359-368 (2023)
   PUBMED   36437414
  REMARK    GeneRIF: Differential HLA class I subunit (A, B, C heavy chain and
            beta2-microglobulin) expression levels in normal tissues.
            Erratum:[Virchows Arch. 2024 Feb 5. doi:
            10.1007/s00428-024-03750-7. PMID: 38315233]
REFERENCE   5  (bases 1 to 943)
  AUTHORS   Kim,J.Y., Park,S.C., Lee,J.K., Choi,S.J., Hahm,K.S. and Park,Y.
  TITLE     Novel antibacterial activity of beta(2)-microglobulin in human
            amniotic fluid
  JOURNAL   PLoS One 7 (11), e47642 (2012)
   PUBMED   23144825
  REMARK    GeneRIF: beta(2)microglobulin displays an antibacterial activity
            when amniotic cells are exposed to pathogens.
REFERENCE   6  (bases 1 to 943)
  AUTHORS   Guo,H.C., Jardetzky,T.S., Garrett,T.P., Lane,W.S., Strominger,J.L.
            and Wiley,D.C.
  TITLE     Different length peptides bind to HLA-Aw68 similarly at their ends
            but bulge out in the middle
  JOURNAL   Nature 360 (6402), 364-366 (1992)
   PUBMED   1448153
REFERENCE   7  (bases 1 to 943)
  AUTHORS   Okon,M., Bray,P. and Vucelic,D.
  TITLE     1H NMR assignments and secondary structure of human beta
            2-microglobulin in solution
  JOURNAL   Biochemistry 31 (37), 8906-8915 (1992)
   PUBMED   1390678
REFERENCE   8  (bases 1 to 943)
  AUTHORS   Gussow,D., Rein,R., Ginjaar,I., Hochstenbach,F., Seemann,G.,
            Kottman,A. and Ploegh,H.L.
  TITLE     The human beta 2-microglobulin gene. Primary structure and
            definition of the transcriptional unit
  JOURNAL   J Immunol 139 (9), 3132-3138 (1987)
   PUBMED   3312414
REFERENCE   9  (bases 1 to 943)
  AUTHORS   Krangel,M.S., Orr,H.T. and Strominger,J.L.
  TITLE     Assembly and maturation of HLA-A and HLA-B antigens in vivo
  JOURNAL   Cell 18 (4), 979-991 (1979)
   PUBMED   93026
REFERENCE   10 (bases 1 to 943)
  AUTHORS   Cunningham,B.A., Wang,J.L., Berggard,I. and Peterson,P.A.
  TITLE     The complete amino acid sequence of beta 2-microglobulin
  JOURNAL   Biochemistry 12 (24), 4811-4822 (1973)
   PUBMED   4586824
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC025270.6 and AC122108.2.
            
            On Mar 28, 2020 this sequence version replaced NM_004048.3.
            
            Summary: This gene encodes a serum protein found in association
            with the major histocompatibility complex (MHC) class I heavy chain
            on the surface of nearly all nucleated cells. The protein has a
            predominantly beta-pleated sheet structure that can form amyloid
            fibrils in some pathological conditions. The encoded antimicrobial
            protein displays antibacterial activity in amniotic fluid. A
            mutation in this gene has been shown to result in hypercatabolic
            hypoproteinemia.[provided by RefSeq, Aug 2014].
            
            Sequence Note:.
            
            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 :: BC032589.1, AY007153.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match                 :: ENST00000648006.3/
                                                  ENSP00000497910.1
            Protein has antimicrobial activity :: PMID: 23144825
            RefSeq Select criteria             :: based on manual assertion,
                                                  conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                AC025270.6         122089-122185
            98-376              AC025270.6         125995-126273
            377-404             AC025270.6         126901-126928
            405-710             AC025270.6         128179-128484
            711-943             AC122108.2         10810-11042
FEATURES             Location/Qualifiers
     source          1..943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="15"
                     /map="15q21.1"
     gene            1..943
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /note="beta-2-microglobulin"
                     /db_xref="GeneID:567"
                     /db_xref="HGNC:HGNC:914"
                     /db_xref="MIM:109700"
     exon            1..97
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /inference="alignment:Splign:2.1.0"
     CDS             31..390
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /note="beta-2-microglobin; beta chain of MHC class I
                     molecules"
                     /codon_start=1
                     /product="beta-2-microglobulin precursor"
                     /protein_id="NP_004039.1"
                     /db_xref="CCDS:CCDS10113.1"
                     /db_xref="GeneID:567"
                     /db_xref="HGNC:HGNC:914"
                     /db_xref="MIM:109700"
                     /translation="MSRSVALAVLALLSLSGLEAIQRTPKIQVYSRHPAENGKSNFLN
                     CYVSGFHPSDIEVDLLKNGERIEKVEHSDLSFSKDWSFYLLYYTEFTPTEKDEYACRV
                     NHVTLSQPKIVKWDRDM"
     exon            98..376
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /inference="alignment:Splign:2.1.0"
     exon            377..404
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /inference="alignment:Splign:2.1.0"
     exon            405..943
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      925..930
                     /regulatory_class="polyA_signal_sequence"
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /note="hexamer: AATAAA"
     polyA_site      943
                     /gene="B2M"
                     /gene_synonym="AMYLD6; IMD43; MHC1D4"
                     /note="major polyA site"
ORIGIN      
        1 attcctgaag ctgacagcat tcgggccgag atgtctcgct ccgtggcctt agctgtgctc
       61 gcgctactct ctctttctgg cctggaggct atccagcgta ctccaaagat tcaggtttac
      121 tcacgtcatc cagcagagaa tggaaagtca aatttcctga attgctatgt gtctgggttt
      181 catccatccg acattgaagt tgacttactg aagaatggag agagaattga aaaagtggag
      241 cattcagact tgtctttcag caaggactgg tctttctatc tcttgtacta cactgaattc
      301 acccccactg aaaaagatga gtatgcctgc cgtgtgaacc atgtgacttt gtcacagccc
      361 aagatagtta agtgggatcg agacatgtaa gcagcatcat ggaggtttga agatgccgca
      421 tttggattgg atgaattcca aattctgctt gcttgctttt taatattgat atgcttatac
      481 acttacactt tatgcacaaa atgtagggtt ataataatgt taacatggac atgatcttct
      541 ttataattct actttgagtg ctgtctccat gtttgatgta tctgagcagg ttgctccaca
      601 ggtagctcta ggagggctgg caacttagag gtggggagca gagaattctc ttatccaaca
      661 tcaacatctt ggtcagattt gaactcttca atctcttgca ctcaaagctt gttaagatag
      721 ttaagcgtgc ataagttaac ttccaattta catactctgc ttagaatttg ggggaaaatt
      781 tagaaatata attgacagga ttattggaaa tttgttataa tgaatgaaac attttgtcat
      841 ataagattca tatttacttc ttatacattt gataaagtaa ggcatggttg tggttaatct
      901 ggtttatttt tgttccacaa gttaaataaa tcataaaact tga
//
