LOCUS       NM_138272               2377 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens megakaryocyte and platelet inhibitory receptor G6b
            (MPIG6B), transcript variant 2, mRNA.
ACCESSION   NM_138272
VERSION     NM_138272.3
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 2377)
  AUTHORS   Batis,H., Almugairi,A., Almugren,O., Aljabry,M., Alqahtani,F.,
            Elbashir,E., Elfaki,M. and Alsultan,A.
  TITLE     Detrimental variants in MPIG6B in two children with myelofibrosis:
            Does immune dysregulation contribute to myelofibrosis?
  JOURNAL   Pediatr Blood Cancer 68 (8), e29062 (2021)
   PUBMED   33871931
  REMARK    GeneRIF: Detrimental variants in MPIG6B in two children with
            myelofibrosis: Does immune dysregulation contribute to
            myelofibrosis?
REFERENCE   2  (bases 1 to 2377)
  AUTHORS   Psaila,B., Wang,G., Rodriguez-Meira,A., Li,R., Heuston,E.F.,
            Murphy,L., Yee,D., Hitchcock,I.S., Sousos,N., O'Sullivan,J.,
            Anderson,S., Senis,Y.A., Weinberg,O.K., Calicchio,M.L.,
            Iskander,D., Royston,D., Milojkovic,D., Roberts,I., Bodine,D.M.,
            Thongjuea,S. and Mead,A.J.
  CONSRTM   NIH Intramural Sequencing Center
  TITLE     Single-Cell Analyses Reveal Megakaryocyte-Biased Hematopoiesis in
            Myelofibrosis and Identify Mutant Clone-Specific Targets
  JOURNAL   Mol Cell 78 (3), 477-492 (2020)
   PUBMED   32386542
  REMARK    GeneRIF: Single-Cell Analyses Reveal Megakaryocyte-Biased
            Hematopoiesis in Myelofibrosis and Identify Mutant Clone-Specific
            Targets.
REFERENCE   3  (bases 1 to 2377)
  AUTHORS   Chen,H., Zheng,J., Chen,Z., Ma,H., Zhang,R. and Wu,R.
  TITLE     Case report of a novel MPIG6B gene mutation in a Chinese boy with
            pancytopenia and splenomegaly
  JOURNAL   Gene 715, 143957 (2019)
   PUBMED   31276734
  REMARK    GeneRIF: Case report of a novel MPIG6B gene mutation in a Chinese
            boy with pancytopenia and splenomegaly.
REFERENCE   4  (bases 1 to 2377)
  AUTHORS   Vogtle,T., Sharma,S., Mori,J., Nagy,Z., Semeniak,D., Scandola,C.,
            Geer,M.J., Smith,C.W., Lane,J., Pollack,S., Lassila,R.,
            Jouppila,A., Barr,A.J., Ogg,D.J., Howard,T.D., McMiken,H.J.,
            Warwicker,J., Geh,C., Rowlinson,R., Abbott,W.M., Eckly,A.,
            Schulze,H., Wright,G.J., Mazharian,A., Futterer,K., Rajesh,S.,
            Douglas,M.R. and Senis,Y.A.
  TITLE     Heparan sulfates are critical regulators of the inhibitory
            megakaryocyte-platelet receptor G6b-B
  JOURNAL   Elife 8, e46840 (2019)
   PUBMED   31436532
  REMARK    GeneRIF: Using platelets from humans and genetically modified mice,
            we demonstrate that binding of G6b-B to heparan sulfate and
            multivalent heparin inhibits platelet and megakaryocyte function by
            inducing downstream signaling via the tyrosine phosphatases Shp1
            and Shp2.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 2377)
  AUTHORS   Hofmann,I., Geer,M.J., Vogtle,T., Crispin,A., Campagna,D.R.,
            Barr,A., Calicchio,M.L., Heising,S., van Geffen,J.P.,
            Kuijpers,M.J.E., Heemskerk,J.W.M., Eble,J.A., Schmitz-Abe,K.,
            Obeng,E.A., Douglas,M., Freson,K., Pondarre,C., Favier,R.,
            Jarvis,G.E., Markianos,K., Turro,E., Ouwehand,W.H., Mazharian,A.,
            Fleming,M.D. and Senis,Y.A.
  TITLE     Congenital macrothrombocytopenia with focal myelofibrosis due to
            mutations in human G6b-B is rescued in humanized mice
  JOURNAL   Blood 132 (13), 1399-1412 (2018)
   PUBMED   29898956
  REMARK    GeneRIF: Autosomal recessive loss-of-function mutations in G6b-B
            (MPIG6B) cause congenital macrothrombocytopenia with focal
            myelofibrosis. G6b-B has orthologous physiological functions in
            human and mice regulating megakaryocyte and platelet production and
            function.
REFERENCE   6  (bases 1 to 2377)
  AUTHORS   Xie,T., Rowen,L., Aguado,B., Ahearn,M.E., Madan,A., Qin,S.,
            Campbell,R.D. and Hood,L.
  TITLE     Analysis of the gene-dense major histocompatibility complex class
            III region and its comparison to mouse
  JOURNAL   Genome Res 13 (12), 2621-2636 (2003)
   PUBMED   14656967
REFERENCE   7  (bases 1 to 2377)
  AUTHORS   Mungall,A.J., Palmer,S.A., Sims,S.K., Edwards,C.A., Ashurst,J.L.,
            Wilming,L., Jones,M.C., Horton,R., Hunt,S.E., Scott,C.E.,
            Gilbert,J.G., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R.,
            Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I.,
            Babbage,A.K., Bagguley,C.L., Bailey,J., Banerjee,R., Barker,D.J.,
            Barlow,K.F., Bates,K., Beare,D.M., Beasley,H., Beasley,O.,
            Bird,C.P., Blakey,S., Bray-Allen,S., Brook,J., Brown,A.J.,
            Brown,J.Y., Burford,D.C., Burrill,W., Burton,J., Carder,C.,
            Carter,N.P., Chapman,J.C., Clark,S.Y., Clark,G., Clee,C.M.,
            Clegg,S., Cobley,V., Collier,R.E., Collins,J.E., Colman,L.K.,
            Corby,N.R., Coville,G.J., Culley,K.M., Dhami,P., Davies,J.,
            Dunn,M., Earthrowl,M.E., Ellington,A.E., Evans,K.A., Faulkner,L.,
            Francis,M.D., Frankish,A., Frankland,J., French,L., Garner,P.,
            Garnett,J., Ghori,M.J., Gilby,L.M., Gillson,C.J., Glithero,R.J.,
            Grafham,D.V., Grant,M., Gribble,S., Griffiths,C., Griffiths,M.,
            Hall,R., Halls,K.S., Hammond,S., Harley,J.L., Hart,E.A.,
            Heath,P.D., Heathcott,R., Holmes,S.J., Howden,P.J., Howe,K.L.,
            Howell,G.R., Huckle,E., Humphray,S.J., Humphries,M.D., Hunt,A.R.,
            Johnson,C.M., Joy,A.A., Kay,M., Keenan,S.J., Kimberley,A.M.,
            King,A., Laird,G.K., Langford,C., Lawlor,S., Leongamornlert,D.A.,
            Leversha,M., Lloyd,C.R., Lloyd,D.M., Loveland,J.E., Lovell,J.,
            Martin,S., Mashreghi-Mohammadi,M., Maslen,G.L., Matthews,L.,
            McCann,O.T., McLaren,S.J., McLay,K., McMurray,A., Moore,M.J.,
            Mullikin,J.C., Niblett,D., Nickerson,T., Novik,K.L., Oliver,K.,
            Overton-Larty,E.K., Parker,A., Patel,R., Pearce,A.V., Peck,A.I.,
            Phillimore,B., Phillips,S., Plumb,R.W., Porter,K.M., Ramsey,Y.,
            Ranby,S.A., Rice,C.M., Ross,M.T., Searle,S.M., Sehra,H.K.,
            Sheridan,E., Skuce,C.D., Smith,S., Smith,M., Spraggon,L.,
            Squares,S.L., Steward,C.A., Sycamore,N., Tamlyn-Hall,G., Tester,J.,
            Theaker,A.J., Thomas,D.W., Thorpe,A., Tracey,A., Tromans,A.,
            Tubby,B., Wall,M., Wallis,J.M., West,A.P., White,S.S.,
            Whitehead,S.L., Whittaker,H., Wild,A., Willey,D.J., Wilmer,T.E.,
            Wood,J.M., Wray,P.W., Wyatt,J.C., Young,L., Younger,R.M.,
            Bentley,D.R., Coulson,A., Durbin,R., Hubbard,T., Sulston,J.E.,
            Dunham,I., Rogers,J. and Beck,S.
  TITLE     The DNA sequence and analysis of human chromosome 6
  JOURNAL   Nature 425 (6960), 805-811 (2003)
   PUBMED   14574404
REFERENCE   8  (bases 1 to 2377)
  AUTHORS   Gevaert,K., Goethals,M., Martens,L., Van Damme,J., Staes,A.,
            Thomas,G.R. and Vandekerckhove,J.
  TITLE     Exploring proteomes and analyzing protein processing by mass
            spectrometric identification of sorted N-terminal peptides
  JOURNAL   Nat Biotechnol 21 (5), 566-569 (2003)
   PUBMED   12665801
REFERENCE   9  (bases 1 to 2377)
  AUTHORS   de Vet,E.C., Aguado,B. and Campbell,R.D.
  TITLE     G6b, a novel immunoglobulin superfamily member encoded in the human
            major histocompatibility complex, interacts with SHP-1 and SHP-2
  JOURNAL   J Biol Chem 276 (45), 42070-42076 (2001)
   PUBMED   11544253
REFERENCE   10 (bases 1 to 2377)
  AUTHORS   Ribas,G., Neville,M., Wixon,J.L., Cheng,J. and Campbell,R.D.
  TITLE     Genes encoding three new members of the leukocyte antigen 6
            superfamily and a novel member of Ig superfamily, together with
            genes encoding the regulatory nuclear chloride ion channel protein
            (hRNCC) and an N omega-N omega-dimethylarginine
            dimethylaminohydrolase homologue, are found in a 30-kb segment of
            the MHC class III region
  JOURNAL   J Immunol 163 (1), 278-287 (1999)
   PUBMED   10384126
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BC113719.1, AJ292260.1,
            AK092392.1 and AL662899.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 31, 2020 this sequence version replaced NM_138272.2.
            
            Summary: This gene is a member of the immunoglobulin (Ig)
            superfamily and is located in the major histocompatibility complex
            (MHC) class III region. The protein encoded by this gene is a
            glycosylated, plasma membrane-bound cell surface receptor, but
            soluble isoforms encoded by some transcript variants have been
            found in the endoplasmic reticulum and Golgi before being secreted.
            Multiple transcript variants encoding different isoforms have been
            found for this gene. [provided by RefSeq, Jul 2008].
            
            Transcript Variant: This variant (2) lacks the first 19 nt of
            coding exon 5 as compared to transcript variant 1. As a result,
            variant 2 encodes an isoform (G6b-B), which has a different
            C-terminus than isoform G6b-A. Isoform G6b-B is a transmembrane
            protein and contains two immunoreceptor tyrosine-based inhibitory
            motifs (ITIM).
            
            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 :: AJ292260.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000649779.1/ ENSP00000497720.1
            RefSeq Select criteria :: based on manual assertion, conservation
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               BC113719.1         30-343
            315-737             AJ292260.1         304-726
            738-2210            AK092392.1         757-2229
            2211-2211           AL662899.5         68889-68889
            2212-2368           AK092392.1         2231-2387
            2369-2377           AL662899.5         69047-69055
FEATURES             Location/Qualifiers
     source          1..2377
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2377
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="megakaryocyte and platelet inhibitory receptor G6b"
                     /db_xref="GeneID:80739"
                     /db_xref="HGNC:HGNC:13937"
                     /db_xref="MIM:606520"
     exon            1..72
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     CDS             12..737
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="isoform G6b-B precursor is encoded by transcript
                     variant 2; immunoglobulin receptor; protein G6b"
                     /codon_start=1
                     /product="megakaryocyte and platelet inhibitory receptor
                     G6b isoform G6b-B precursor"
                     /protein_id="NP_612116.1"
                     /db_xref="CCDS:CCDS4715.1"
                     /db_xref="GeneID:80739"
                     /db_xref="HGNC:HGNC:13937"
                     /db_xref="MIM:606520"
                     /translation="MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRW
                     VWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGD
                     SGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
                     LVWWLHRRLPPQPIRPLPRFAPLVKTEPQRPVKEEEPKIPGDLDQEPSLLYADLDHLA
                     LSRPRRLSTADPADASTIYAVVV"
     exon            73..420
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     exon            421..511
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     exon            512..552
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     exon            553..632
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     exon            633..2377
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2354..2359
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="hexamer: ATTAAA"
     regulatory      2358..2363
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="hexamer: AATGAA"
     polyA_site      2373
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="major polyA site"
     polyA_site      2377
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="major polyA site"
ORIGIN      
        1 acatcctaac catggctgtg tttctgcagc tgctaccgct gctgctctcg agggcccaag
       61 ggaaccctgg ggcttctctg gacggccgcc ctggggaccg ggtgaatctc tcctgcggag
      121 gagtctctca tcccatccgc tgggtctggg cacccagctt cccggcctgc aagggcctgt
      181 ccaaaggacg ccgaccgatc ctgtgggcct cttcgagcgg gacccccacc gtgcctcccc
      241 tccagccttt cgtcggccgc ctacgctccc tggactctgg tatccggcgg ctggagctcc
      301 tcttgagcgc gggggactcg ggcacttttt tctgcaaggg ccgccacgag gacgagagcc
      361 gtacagtgct tcacgtgctg ggggacagga cctattgcaa ggcccccggg cctacccatg
      421 ggtccgtgta tccccagctc ctgatcccgc tgctgggcgc tgggttggtg ctcggactgg
      481 gagctttggg cctggtctgg tggctgcaca ggcgcctgcc cccgcaaccg attcgaccac
      541 tccctagatt tgctccactt gtgaaaaccg agccccagag gccagtaaag gaggaagagc
      601 ccaagattcc aggggacctg gaccaggaac cgagcctgct ctatgcggat ctggaccatc
      661 tagccctcag caggccccgc cggctgtcca cagcggaccc tgctgatgcc tccaccatct
      721 atgcagttgt agtttgaagg gaagccctta ctccaaacct cccaagctag gggatcccag
      781 ctccccataa tccctctccc ctccttggtt cctcacctgg aagaggaagg caccatggta
      841 tagaaataag tgctagactg ggagttggga gacctgggtt ccaggctgtc tctgccactg
      901 gtcttacttc taaacttact cccatctctc ctataacctc catgtctccc tcaccaccag
      961 tgtcctctct atacccaatc aagccctagc tccttttttt tttttttttg agacggagtc
     1021 tcgctctgtt gcccaggctg gagtgcagtg acaccatctc cctcactgca agctccgcct
     1081 gccgggttca caccattctc ctgcctcagg ctcctgagta gctgggacta caggcgcccg
     1141 ccaccacgcc cagctaattt tttgtatttt tagtagagac ggggtttcac tgtgttagcc
     1201 aggatggtct tgatctgcta acctcgtgat ccacccgccc cggcctccca aagtgctagg
     1261 attacaggtg tgagccaccg cgcccggcct gattctttaa gctgtttttc tttgttgctg
     1321 gtgttttctt tttggactcc tcttccttgc tccatatccc tacagtattt cccaccattc
     1381 taggtttgtc cctttctctt cttctgggac actctcatca acagtcagtc ctcagccccc
     1441 tcctctgcaa atgacactca gaactctctc tggctcagat ctcagatttg ggattaacaa
     1501 acttccactt agacattctg cctgactgac ctcaggcatt tcgcactctg aatgtcaaac
     1561 ccaactcatt gtcatctctg aagctgctca cttaattctc ctctgtattc tctttaacaa
     1621 cccagttgcc caacccagaa actgggagtc acgcagacct cctttctctc ttactcccac
     1681 acaatgagcc atgaagtcca gtctttctat cttaacatca ctgtcaaacc cacactgtat
     1741 tccatgccca gcgctgccac gtgaatgtac tctgctcact tccttcctgg attacccata
     1801 gccccacctc atcctcctac ccttgctttc ctccctgaag tcagagagat cctactcaag
     1861 agataactgc tcctgacagc ccttattaca gaactgaagt actctcctta gcttcagctc
     1921 tgtgcccacg tgccttggct ttggatacaa ggtactacag cactttgtcc actctccagg
     1981 cttacctgtg tcattccaca tgcacatctt agaaaatgcc agccttagag aattctccct
     2041 agccccaaaa tgtctttgcc cagtgcaatt ccttcttcct gtattacccc tttccctcct
     2101 tcacactatc tgcctggcta attcttattt atccttagtt caagtatggc cttttctggg
     2161 aaggtgaccc tccttggcca ccccttgcat atactttgat gccctagggc gcaccccctt
     2221 tatttccctc atagaaacag ccttctgtaa attgttccat gacaacctgt atttcaattt
     2281 gtaagaaatt tgcatgtact gtgagctccc caacgtcagg agactgaccc ttttgatatc
     2341 attgctaagc ctcattaaat gaatgaatga aaatgaa
//
