LOCUS       NM_001141919            2943 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens Xg glycoprotein (Xg blood group) (XG), transcript
            variant 2, mRNA.
ACCESSION   NM_001141919
VERSION     NM_001141919.2
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 2943)
  AUTHORS   Yeh,C.C., Chang,C.J., Twu,Y.C., Chu,C.C., Liu,B.S., Huang,J.T.,
            Hung,S.T., Chan,Y.S., Tsai,Y.J., Lin,S.W., Lin,M. and Yu,L.C.
  TITLE     The molecular genetic background leading to the formation of the
            human erythroid-specific Xga/CD99 blood groups
  JOURNAL   Blood Adv 2 (15), 1854-1864 (2018)
   PUBMED   30061310
  REMARK    GeneRIF: The present findings identify the genetic basis of the
            erythroid-specific Xg(a)/CD99 blood group phenotypes and reveal the
            molecular background of their formation.
REFERENCE   2  (bases 1 to 2943)
  AUTHORS   Chang,S.C., Pauls,D.L., Lange,C., Sasanfar,R. and Santangelo,S.L.
  TITLE     Sex-specific association of a common variant of the XG gene with
            autism spectrum disorders
  JOURNAL   Am J Med Genet B Neuropsychiatr Genet 162B (7), 742-750 (2013)
   PUBMED   24132906
  REMARK    GeneRIF: The pseudoautosomal boundary on Xp22.33/Yp11.31 may harbor
            male-specific genetic variants for autism spectrum disorders.
REFERENCE   3  (bases 1 to 2943)
  AUTHORS   Gandouz,R., Kraiem,I., Bierling,P. and Skouri,H.
  TITLE     [Xg gene frequencies in Tunisia]
  JOURNAL   Transfus Clin Biol 15 (4), 174-176 (2008)
   PUBMED   18789743
  REMARK    GeneRIF: Gene frequency in France is similar to that reported in
            predominantly white populations.
REFERENCE   4  (bases 1 to 2943)
  AUTHORS   Fouchet,C., Gane,P., Cartron,J.P. and Lopez,C.
  TITLE     Quantitative analysis of XG blood group and CD99 antigens on human
            red cells
  JOURNAL   Immunogenetics 51 (8-9), 688-694 (2000)
   PUBMED   10941840
REFERENCE   5  (bases 1 to 2943)
  AUTHORS   Fouchet,C., Gane,P., Huet,M., Fellous,M., Rouger,P., Banting,G.,
            Cartron,J.P. and Lopez,C.
  TITLE     A study of the coregulation and tissue specificity of XG and MIC2
            gene expression in eukaryotic cells
  JOURNAL   Blood 95 (5), 1819-1826 (2000)
   PUBMED   10688843
REFERENCE   6  (bases 1 to 2943)
  AUTHORS   Weller,P.A., Critcher,R., Goodfellow,P.N., German,J. and Ellis,N.A.
  TITLE     The human Y chromosome homologue of XG: transcription of a
            naturally truncated gene
  JOURNAL   Hum Mol Genet 4 (5), 859-868 (1995)
   PUBMED   7633446
REFERENCE   7  (bases 1 to 2943)
  AUTHORS   Ellis,N.A., Tippett,P., Petty,A., Reid,M., Weller,P.A., Ye,T.Z.,
            German,J., Goodfellow,P.N., Thomas,S. and Banting,G.
  TITLE     PBDX is the XG blood group gene
  JOURNAL   Nat Genet 8 (3), 285-290 (1994)
   PUBMED   7533029
REFERENCE   8  (bases 1 to 2943)
  AUTHORS   Ellis,N.A., Ye,T.Z., Patton,S., German,J., Goodfellow,P.N. and
            Weller,P.
  TITLE     Cloning of PBDX, an MIC2-related gene that spans the
            pseudoautosomal boundary on chromosome Xp
  JOURNAL   Nat Genet 6 (4), 394-400 (1994)
   PUBMED   8054981
REFERENCE   9  (bases 1 to 2943)
  AUTHORS   Ballabio,A., Parenti,G., Tippett,P., Mondello,C., Di Maio,S.,
            Tenore,A. and Andria,G.
  TITLE     X-linked ichthyosis, due to steroid sulphatase deficiency,
            associated with Kallmann syndrome (hypogonadotropic hypogonadism
            and anosmia): linkage relationships with Xg and cloned DNA
            sequences from the distal short arm of the X chromosome
  JOURNAL   Hum Genet 72 (3), 237-240 (1986)
   PUBMED   3007328
REFERENCE   10 (bases 1 to 2943)
  AUTHORS   Curry,C.J., Magenis,R.E., Brown,M., Lanman,J.T. Jr., Tsai,J.,
            O'Lague,P., Goodfellow,P., Mohandas,T., Bergner,E.A. and
            Shapiro,L.J.
  TITLE     Inherited chondrodysplasia punctata due to a deletion of the
            terminal short arm of an X chromosome
  JOURNAL   N Engl J Med 311 (16), 1010-1015 (1984)
   PUBMED   6482910
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006209.25, AK304164.1,
            AF380356.1, AC138085.2, BX379565.2 and BX098030.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Feb 25, 2020 this sequence version replaced NM_001141919.1.
            
            Summary: This gene encodes the XG blood group antigen, and is
            located at the pseudoautosomal boundary on the short (p) arm of
            chromosome X. The three 5' exons reside in the pseudoautosomal
            region and the remaining exons within the X-specific end. A
            truncated copy of this gene is found on the Y chromosome at the
            pseudoautosomal boundary. It is transcribed, but not expected to
            make a Y-chromosome specific gene product. Alternatively spliced
            transcript variants encoding different isoforms have been found for
            this gene. [provided by RefSeq, Nov 2008].
            
            Transcript Variant: This variant (2) contains an additional
            in-frame coding exon compared to transcript variant 1. This results
            in a longer isoform (2) with a 15 aa segment not found in isoform
            1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK304164.1, BC100765.2 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2142680, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000644266.2/ ENSP00000494087.1
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-12                AC006209.25        52751-52762         c
            13-328              AK304164.1         1-316
            329-608             AF380356.1         295-574
            609-627             AC138085.2         3905-3923
            628-991             AK304164.1         616-979
            992-1510            AF380356.1         913-1431
            1511-1677           BX379565.2         6-172
            1678-1679           AC138085.2         12439-12440
            1680-2042           AF380356.1         1601-1963
            2043-2044           AC138085.2         12804-12805
            2045-2228           BX379565.2         540-723
            2229-2265           AC138085.2         12990-13026
            2266-2370           AF380356.1         2200-2304
            2371-2943           BX098030.1         39-611
FEATURES             Location/Qualifiers
     source          1..2943
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xp22.33"
     gene            1..2943
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /note="Xg glycoprotein (Xg blood group)"
                     /db_xref="GeneID:7499"
                     /db_xref="HGNC:HGNC:12806"
                     /db_xref="MIM:300879"
     exon            1..296
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     CDS             236..823
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /note="isoform 2 precursor is encoded by transcript
                     variant 2; Xg blood group (pseudoautosomal
                     boundary-divided on the X chromosome); glycoprotein Xg"
                     /codon_start=1
                     /product="glycoprotein Xg isoform 2 precursor"
                     /protein_id="NP_001135391.1"
                     /db_xref="CCDS:CCDS48073.1"
                     /db_xref="GeneID:7499"
                     /db_xref="HGNC:HGNC:12806"
                     /db_xref="MIM:300879"
                     /translation="MESWWGLPCLAFLCFLMHARGQRDFDLADALDDPEPTKKPNSDI
                     YPKPKPPYYPQPENPDSGGNIYPRPKPRPQPQPGNSGNSGGYFNDVDRDDGRYPPRPR
                     PRPPAGGGGGGYSSYGNSDNTHGRGGYRLNSRYGNTYGGDHHSTYGNPEGNMVAKIVS
                     PIVSVVVVTLLGAAASYFKLNNRRNCFRTHEPENV"
     exon            297..338
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            339..362
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            363..425
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            426..488
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            489..557
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            558..608
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            609..653
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            654..689
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            690..806
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     exon            807..2943
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /inference="alignment:Splign:2.1.0"
     regulatory      865..870
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /note="hexamer: AACAAG"
     polyA_site      889
                     /gene="XG"
                     /gene_synonym="PBDX"
     regulatory      2349..2354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /note="hexamer: AATAAA"
     polyA_site      2370
                     /gene="XG"
                     /gene_synonym="PBDX"
                     /note="major polyA site"
ORIGIN      
        1 acacgactga gtgtgcctac actggtccca caggttttca gctgtggagt ttgggatctg
       61 agcttggagc ccatttgttt ctggcagttc cgctcatatt ttccacttga agacatcgcc
      121 tcccttcctt ccaagctggg agaccagaag tcaacaacag gagggtggag aggccgggtc
      181 tcacaatccg cttggctggg gagtccactg aggttcttgc atcctgaagc aaaccatgga
      241 gagctggtgg ggacttccct gtcttgcgtt cctgtgtttt ctaatgcacg cccgaggtca
      301 aagagacttt gatttggcag atgcccttga tgaccctgaa cccaccaaga agccaaactc
      361 agatatctac ccaaagccaa aaccacctta ctacccacag cccgagaatc ccgacagcgg
      421 tggaaatatc tacccaaggc caaagccacg ccctcaaccc cagcctggca attccggcaa
      481 cagtggaggt tacttcaatg atgtggaccg tgatgacgga cgctacccgc ccaggcccag
      541 gccacggccg cctgcaggag gtggcggcgg tggctactcc agttatggca actccgacaa
      601 cacgcacgga agagggggct atagactcaa ctctcgttat ggaaatactt atggtggaga
      661 tcaccattca acgtatggca atccagaagg caatatggta gcaaaaatcg tgtctcccat
      721 cgtatccgtg gtggtggtga cactgctggg agcagcagcc agttatttca aactaaacaa
      781 taggagaaat tgtttcagga cccatgaacc agaaaatgtc tgaagatgtt aagatcccct
      841 gattactttg agaaaaacaa ctaaaacaag aaccgtgttt atcactgttg tggagatttc
      901 cttttattct tgacacaatt tgatgaccta aagtgtgttt tcttctgtgt aaagtacatg
      961 agctgcctca ctaagcattc ccaactcatt gaatgtgatg tggttataaa gataagttag
     1021 gcagctagac cctgcgttct aaaaaaggat tgcttgcaat gttggtttgg ctattcattt
     1081 gcacaaagag actgtggctc tctgttgtga gatcttcagc tacctcatgg tgcaataaca
     1141 cacacacgct taaccatgtt gatggcacaa agcggtgagc agtagggagg tagaatatct
     1201 tggtggggag gggatgttat cagcttctgg gagatgaaga atattgttga ggttccaaag
     1261 atgctggacc tgtgctaaat tcttcagtga tatgaaaaaa tcattgagca ttcattattg
     1321 cgaatgaagt ggggatgcat tatttctgac acccacaagc agggtttgat catcctttca
     1381 gctttgagat atctgcacat aaaattatta ttacctgaag aaaataaggc tgcattttga
     1441 aatgttaagt gcaaaatgac tgatgttaaa accatctggg ggaaatcttg ggatgctttt
     1501 tcctaggaaa tcatatggtt gtgatatgtt ttggcgcata ggagacagaa atagtgatta
     1561 tcaggcgttg agcctttttg tagtattttt agtctttgat actctgtaag tgctagttcc
     1621 taaggcacca acattgcatt ccttggttta tactttttct attcatcagg gtaggaagtc
     1681 ttaaatcctt aggcatccaa gaagtatact agctttttgc ttctctttta gaaatacttg
     1741 tggggagaga aaaaaggatg gtttgggcat attggtatag tttgagtaaa ctaaggttaa
     1801 tgttcatata acatttagac tttgccataa atatcagaac caaagatcaa gacattcatg
     1861 tacagtctgg aatgtatata tggggcccat aaaaattccc agtatgcatg ttttatgctc
     1921 accattatga attggggtct tcaaagagag aaggttgaaa gtggaaagca cttgaaaggg
     1981 ctccccggtt tgtaaaatat ctttaatcat tcacattagg tacctcggag ttgcgggtct
     2041 caaatgtgga ttcatgcatc atttgtgcag tttgaagata gtccatattt cctatttcag
     2101 tattaggtcc tgcaacactt ttcaattctt gtagaaggtt tttttcagga gtggtgatgt
     2161 ctgatgctca attactattt tccctataag agtttcagca tgagcttaat taaattcttg
     2221 tgaaaaaacc tgtgttttta gttacacaca cacacacaca cacacctact taaatggaat
     2281 ctaaacattt ttagccttta atccattcca ttttctaaaa ctgtcataaa ctatttttaa
     2341 tcattttaaa taaatgtaaa agaaaaataa ctggatttga ttattgaata gtttttttct
     2401 atatttcaca aataaattgt atgaaatgac tgtagaagtg gccccaaaat tatgaacctt
     2461 cgtagctgtg aatatgatgc cataaatctc ttttaaagct caagatagac tatgaacata
     2521 tgaaatacat agttacctaa tcatgagact aaattcacct gggtgacaag gctaacgttc
     2581 aagctactta agatgaaaat atttgaatca tgattgcttg ggggaacctc tctttgaggg
     2641 gtcatgagga ccacctgctg ggcattctgt tttcatgctg agaaggtgag aattgaacag
     2701 atgagaaaag ccttgataaa acgtcatctc catgtaattt agagaaggat aaccttgact
     2761 gtacagctga cccttgaaca acacagggct gaactgcaca tgtccacctg tatgtgagtt
     2821 tgcttctggc tctgccatta ctgagacagc aggaccaacc ctccatctac tcaatgggaa
     2881 gatgataagg atgaagacct ttatggtgat ccgcttccac ttaataaata gtaaattcat
     2941 taa
//
