LOCUS       NM_025260               2396 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens megakaryocyte and platelet inhibitory receptor G6b
            (MPIG6B), transcript variant 1, mRNA.
ACCESSION   NM_025260
VERSION     NM_025260.4
KEYWORDS    RefSeq.
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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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 2396)
  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, AJ292259.1,
            AK092392.1 and AL662899.5.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Mar 31, 2020 this sequence version replaced NM_025260.3.
            
            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 (1) contains 6 coding exons and
            encodes isoform G6b-A, which is a transmembrane protein.
            
            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 :: AK092392.1, AJ292259.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-314               BC113719.1         30-343
            315-756             AJ292259.1         304-745
            757-2229            AK092392.1         757-2229
            2230-2230           AL662899.5         68889-68889
            2231-2387           AK092392.1         2231-2387
            2388-2396           AL662899.5         69047-69055
FEATURES             Location/Qualifiers
     source          1..2396
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p21.33"
     gene            1..2396
                     /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..725
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="isoform G6b-A precursor is encoded by transcript
                     variant 1; immunoglobulin receptor; protein G6b"
                     /codon_start=1
                     /product="megakaryocyte and platelet inhibitory receptor
                     G6b isoform G6b-A precursor"
                     /protein_id="NP_079536.2"
                     /db_xref="CCDS:CCDS34406.1"
                     /db_xref="GeneID:80739"
                     /db_xref="HGNC:HGNC:13937"
                     /db_xref="MIM:606520"
                     /translation="MAVFLQLLPLLLSRAQGNPGASLDGRPGDRVNLSCGGVSHPIRW
                     VWAPSFPACKGLSKGRRPILWASSSGTPTVPPLQPFVGRLRSLDSGIRRLELLLSAGD
                     SGTFFCKGRHEDESRTVLHVLGDRTYCKAPGPTHGSVYPQLLIPLLGAGLVLGLGALG
                     LVWWLHRRLPPQPIRPLPRFALSPPHSSTCENRAPEASKGGRAQDSRGPGPGTEPALC
                     GSGPSSPQQAPPAVHSGPC"
     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..651
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     exon            652..2396
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2373..2378
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="hexamer: ATTAAA"
     regulatory      2377..2382
                     /regulatory_class="polyA_signal_sequence"
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="hexamer: AATGAA"
     polyA_site      2392
                     /gene="MPIG6B"
                     /gene_synonym="C6orf25; G6b; G6b-B; NG31; THAMY"
                     /note="major polyA site"
     polyA_site      2396
                     /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 tgctctgtcc cccccacata gctccacttg tgaaaaccga gccccagagg
      601 ccagtaaagg aggaagagcc caagattcca ggggacctgg accaggaacc gagcctgctc
      661 tatgcggatc tggaccatct agccctcagc aggccccgcc ggctgtccac agcggaccct
      721 gctgatgcct ccaccatcta tgcagttgta gtttgaaggg aagcccttac tccaaacctc
      781 ccaagctagg ggatcccagc tccccataat ccctctcccc tccttggttc ctcacctgga
      841 agaggaaggc accatggtat agaaataagt gctagactgg gagttgggag acctgggttc
      901 caggctgtct ctgccactgg tcttacttct aaacttactc ccatctctcc tataacctcc
      961 atgtctccct caccaccagt gtcctctcta tacccaatca agccctagct cctttttttt
     1021 ttttttttga gacggagtct cgctctgttg cccaggctgg agtgcagtga caccatctcc
     1081 ctcactgcaa gctccgcctg ccgggttcac accattctcc tgcctcaggc tcctgagtag
     1141 ctgggactac aggcgcccgc caccacgccc agctaatttt ttgtattttt agtagagacg
     1201 gggtttcact gtgttagcca ggatggtctt gatctgctaa cctcgtgatc cacccgcccc
     1261 ggcctcccaa agtgctagga ttacaggtgt gagccaccgc gcccggcctg attctttaag
     1321 ctgtttttct ttgttgctgg tgttttcttt ttggactcct cttccttgct ccatatccct
     1381 acagtatttc ccaccattct aggtttgtcc ctttctcttc ttctgggaca ctctcatcaa
     1441 cagtcagtcc tcagccccct cctctgcaaa tgacactcag aactctctct ggctcagatc
     1501 tcagatttgg gattaacaaa cttccactta gacattctgc ctgactgacc tcaggcattt
     1561 cgcactctga atgtcaaacc caactcattg tcatctctga agctgctcac ttaattctcc
     1621 tctgtattct ctttaacaac ccagttgccc aacccagaaa ctgggagtca cgcagacctc
     1681 ctttctctct tactcccaca caatgagcca tgaagtccag tctttctatc ttaacatcac
     1741 tgtcaaaccc acactgtatt ccatgcccag cgctgccacg tgaatgtact ctgctcactt
     1801 ccttcctgga ttacccatag ccccacctca tcctcctacc cttgctttcc tccctgaagt
     1861 cagagagatc ctactcaaga gataactgct cctgacagcc cttattacag aactgaagta
     1921 ctctccttag cttcagctct gtgcccacgt gccttggctt tggatacaag gtactacagc
     1981 actttgtcca ctctccaggc ttacctgtgt cattccacat gcacatctta gaaaatgcca
     2041 gccttagaga attctcccta gccccaaaat gtctttgccc agtgcaattc cttcttcctg
     2101 tattacccct ttccctcctt cacactatct gcctggctaa ttcttattta tccttagttc
     2161 aagtatggcc ttttctggga aggtgaccct ccttggccac cccttgcata tactttgatg
     2221 ccctagggcg cacccccttt atttccctca tagaaacagc cttctgtaaa ttgttccatg
     2281 acaacctgta tttcaatttg taagaaattt gcatgtactg tgagctcccc aacgtcagga
     2341 gactgaccct tttgatatca ttgctaagcc tcattaaatg aatgaatgaa aatgaa
//
