LOCUS       NM_004752               2541 bp    mRNA    linear   PRI 09-JUN-2024
DEFINITION  Homo sapiens glial cells missing transcription factor 2 (GCM2),
            mRNA.
ACCESSION   NM_004752
VERSION     NM_004752.4
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 2541)
  AUTHORS   Szalat,A., Shpitzen,S., Pollack,R., Mazeh,H., Durst,R. and
            Meiner,V.
  TITLE     GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with
            suspected familial isolated hyperparathyroidism
  JOURNAL   Front Endocrinol (Lausanne) 14, 1254156 (2023)
   PUBMED   38130397
  REMARK    GeneRIF: GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients
            with suspected familial isolated hyperparathyroidism.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2541)
  AUTHORS   Vincze,S., Peters,N.V., Kuo,C.L., Brown,T.C., Korah,R.,
            Murtha,T.D., Bellizzi,J., Riccardi,A., Parham,K., Carling,T.,
            Costa-Guda,J. and Arnold,A.
  TITLE     GCM2 Variants in Familial and Multiglandular Primary
            Hyperparathyroidism
  JOURNAL   J Clin Endocrinol Metab 107 (5), e2021-e2026 (2022)
   PUBMED   34967908
  REMARK    GeneRIF: GCM2 Variants in Familial and Multiglandular Primary
            Hyperparathyroidism.
REFERENCE   3  (bases 1 to 2541)
  AUTHORS   Canaff,L., Guarnieri,V., Kim,Y., Wong,B.Y.L., Nolin-Lapalme,A.,
            Cole,D.E.C., Minisola,S., Eller-Vainicher,C., Cetani,F., Repaci,A.,
            Turchetti,D., Corbetta,S., Scillitani,A. and Goltzman,D.
  TITLE     Novel Glial Cells Missing-2 (GCM2) variants in parathyroid
            disorders
  JOURNAL   Eur J Endocrinol 186 (3), 351-366 (2022)
   PUBMED   35038313
  REMARK    GeneRIF: Novel Glial Cells Missing-2 (GCM2) variants in parathyroid
            disorders.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 2541)
  AUTHORS   Singh,P., Bhadada,S.K., Dahiya,D., Saikia,U.N., Arya,A.K.,
            Sachdeva,N., Kaur,J., Behera,A., Brandi,M.L. and Rao,S.D.
  TITLE     GCM2 Silencing in Parathyroid Adenoma Is Associated With Promoter
            Hypermethylation and Gain of Methylation on Histone 3
  JOURNAL   J Clin Endocrinol Metab 106 (10), e4084-e4096 (2021)
   PUBMED   34077544
  REMARK    GeneRIF: GCM2 Silencing in Parathyroid Adenoma Is Associated With
            Promoter Hypermethylation and Gain of Methylation on Histone 3.
REFERENCE   5  (bases 1 to 2541)
  AUTHORS   Garcia-Castano,A., Madariaga,L., Gomez-Conde,S., Cordo,C.L.R.,
            Lopez-Iglesias,M., Garcia-Fernandez,Y., Martin,A., Gonzalez,P.,
            Goicolea,I., de Nanclares,G.P., De la Hoz,A.B., Aguayo,A., de
            LaPiscina,I.M., Martinez,R., Saso,L., Urrutia,I., Velasco,O.,
            Castano,L. and Gaztambide,S.
  TITLE     Five patients with disorders of calcium metabolism presented with
            GCM2 gene variants
  JOURNAL   Sci Rep 11 (1), 2968 (2021)
   PUBMED   33536578
  REMARK    GeneRIF: Five patients with disorders of calcium metabolism
            presented with GCM2 gene variants.
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 2541)
  AUTHORS   Kebebew,E., Peng,M., Wong,M.G., Ginzinger,D., Duh,Q.Y. and
            Clark,O.H.
  TITLE     GCMB gene, a master regulator of parathyroid gland development,
            expression, and regulation in hyperparathyroidism
  JOURNAL   Surgery 136 (6), 1261-1266 (2004)
   PUBMED   15657585
  REMARK    GeneRIF: The glial cell missing gene, GCMB , encodes a
            transcription factor, which is a master regulator of parathyroid
            development. GCMB expression is upregulated in abnormal parathyroid
            glands of hyperparathyroidism and decreases in response to
            hypocalcemia.
REFERENCE   7  (bases 1 to 2541)
  AUTHORS   Maret,A., Bourdeau,I., Ding,C., Kadkol,S.S., Westra,W.H. and
            Levine,M.A.
  TITLE     Expression of GCMB by intrathymic parathyroid hormone-secreting
            adenomas indicates their parathyroid cell origin
  JOURNAL   J Clin Endocrinol Metab 89 (1), 8-12 (2004)
   PUBMED   14715818
REFERENCE   8  (bases 1 to 2541)
  AUTHORS   Correa,P., Akerstrom,G. and Westin,G.
  TITLE     Underexpression of Gcm2, a master regulatory gene of parathyroid
            gland development, in adenomas of primary hyperparathyroidism
  JOURNAL   Clin Endocrinol (Oxf) 57 (4), 501-505 (2002)
   PUBMED   12354132
REFERENCE   9  (bases 1 to 2541)
  AUTHORS   Kanemura,Y., Hiraga,S., Arita,N., Ohnishi,T., Izumoto,S., Mori,K.,
            Matsumura,H., Yamasaki,M., Fushiki,S. and Yoshimine,T.
  TITLE     Isolation and expression analysis of a novel human homologue of the
            Drosophila glial cells missing (gcm) gene
  JOURNAL   FEBS Lett 442 (2-3), 151-156 (1999)
   PUBMED   9928992
REFERENCE   10 (bases 1 to 2541)
  AUTHORS   Kammerer,M., Pirola,B., Giglio,S. and Giangrande,A.
  TITLE     GCMB, a second human homolog of the fly glide/gcm gene
  JOURNAL   Cytogenet Cell Genet 84 (1-2), 43-47 (1999)
   PUBMED   10343099
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL357497.17 and AL024498.13.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jul 19, 2019 this sequence version replaced NM_004752.3.
            
            Summary: This gene is a homolog of the Drosophila glial cells
            missing gene, which is thought to act as a binary switch between
            neuronal and glial cell determination. The protein encoded by this
            gene contains a conserved N-terminal GCM motif that has DNA-binding
            activity. The protein is a transcription factor that acts as a
            master regulator of parathyroid development. It has been suggested
            that this transcription factor might mediate the effect of calcium
            on parathyroid hormone expression and secretion in parathyroid
            cells. Mutations in this gene are associated with
            hypoparathyroidism. [provided by RefSeq, Jul 2008].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on alignments.
            
            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 :: AF079550.1, AF091149.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2148874
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000379491.5/ ENSP00000368805.4
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-338               AL357497.17        5803-6140           c
            339-591             AL357497.17        1239-1491           c
            592-704             AL357497.17        544-656             c
            705-719             AL357497.17        101-115             c
            720-830             AL024498.13        144079-144189       c
            831-2541            AL024498.13        141411-143121       c
FEATURES             Location/Qualifiers
     source          1..2541
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="6"
                     /map="6p24.2"
     gene            1..2541
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /note="glial cells missing transcription factor 2"
                     /db_xref="GeneID:9247"
                     /db_xref="HGNC:HGNC:4198"
                     /db_xref="MIM:603716"
     exon            1..338
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /inference="alignment:Splign:2.1.0"
     CDS             249..1769
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /note="glide/gcm protein homolog; GCM motif protein 2;
                     glial cells missing 2; glial cells missing homolog b;
                     glial cells missing homolog 2"
                     /codon_start=1
                     /product="chorion-specific transcription factor GCMb"
                     /protein_id="NP_004743.1"
                     /db_xref="CCDS:CCDS4517.1"
                     /db_xref="GeneID:9247"
                     /db_xref="HGNC:HGNC:4198"
                     /db_xref="MIM:603716"
                     /translation="MPAAAVQEAVGVCSYGMQLSWDINDPQMPQELALFDQFREWPDG
                     YVRFIYSSDEKKAQRHLSGWAMRNTNNHNGHILKKSCLGVVVCTQACTLPDGSRLQLR
                     PAICDKARLKQQKKACPNCHSALELIPCRGHSGYPVTNFWRLDGNAIFFQAKGVHDHP
                     RPESKSETEARRSAIKRQMASFYQPQKKRIRESEAEENQDSSGHFSNIPPLENPEDFD
                     IVTETSFPIPGQPCPSFPKSDVYKATCDLATFQGDKMPPFQKYSSPRIYLPRPPCSYE
                     LANPGYTNSSPYPTLYKDSTSIPNDTDWVHLNTLQCNVNSYSSYERSFDFTNKQHGWK
                     PALGKPSLVERTNHGQFQAMATRPYYNPELPCRYLTTPPPGAPALQTVITTTTKVSYQ
                     AYQPPAMKYSDSVREVKSLSSCNYAPEDTGMSVYPEPWGPPVTVTRAASPSGPPPMKI
                     AGDCRAIRPTVAIPHEPVSSRTDEAETWDVCLSGLGSAVSYSDRVGPFFTYNNEDF"
     exon            339..591
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /inference="alignment:Splign:2.1.0"
     exon            592..704
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /inference="alignment:Splign:2.1.0"
     exon            705..830
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /inference="alignment:Splign:2.1.0"
     exon            831..2541
                     /gene="GCM2"
                     /gene_synonym="FIH2; GCMB; hGCMb; HRPT4"
                     /inference="alignment:Splign:2.1.0"
ORIGIN      
        1 gatgctgccg ttcgggtgga gaacgttcag caccgcggcc aaggacaagg ccccgcccgg
       61 gtccataacc attgtcccca gcttccagat atctaaacag cctctctctc tttctctctc
      121 tctgcacctc cccttcacac accccacttt cttctttaaa gagaagaaaa aaaacccacc
      181 tggcgcacct gtcctttttt cttctatttt tcagaaccct gggcggaaag cgcgagcgag
      241 ttgggcagat gccggcggcc gcggtgcagg aagcggtcgg cgtgtgctcc tacgggatgc
      301 agctcagctg ggacatcaac gatccgcaga tgcctcagga gctggccctc tttgaccaat
      361 tccgagagtg gcctgacggc tatgtgcgct tcatctacag cagcgatgag aagaaggcac
      421 agcgtcacct gagcggctgg gccatgcgca acaccaacaa ccacaatggc cacatcctca
      481 agaagtcgtg cctgggtgtg gtggtgtgta cacaggcctg caccctgccc gacggttccc
      541 gcctgcagct gaggccggcc atctgcgaca aggcacggct gaaacagcag aagaaggcat
      601 gccctaactg tcattctgct ttggagttga ttccttgtcg agggcacagc ggataccccg
      661 taaccaactt ttggcggctt gatggcaacg cgatcttttt tcaggccaag ggagttcatg
      721 atcatccaag accagagagc aaatcagaga cagaagctag aagaagcgcc atcaagagac
      781 aaatggcctc tttctaccaa ccccagaaaa agagaattcg agaatccgag gcagaagaaa
      841 atcaagacag cagtggtcat ttcagcaaca tacctccctt ggaaaatcca gaagactttg
      901 atatagttac tgaaaccagc ttccctattc cagggcagcc ttgcccttcc ttcccaaagt
      961 ctgatgttta caaagctacc tgtgacctag ccacctttca aggagacaaa atgccaccct
     1021 tccagaaata ctcaagccca agaatctatt tgcctaggcc accttgcagc tatgaattgg
     1081 caaaccctgg ttatacaaat tcaagcccat atcccaccct ttataaggat tccaccagta
     1141 tccctaatga cacagactgg gttcatctga acacactaca atgtaatgtc aattcataca
     1201 gcagctatga gagaagcttt gatttcacca acaaacagca tggctggaaa ccagctcttg
     1261 gaaaacccag ccttgtggaa aggactaacc atgggcagtt tcaggccatg gccactcgcc
     1321 cttattataa cccagagctt ccctgcaggt acctcacgac tccaccacca ggtgcccctg
     1381 ccctacaaac cgtgatcacc accaccacta aagtgtccta ccaggcctac cagccccctg
     1441 ctatgaaata cagtgacagt gtgcgagagg tgaagagcct ttcgagctgt aactatgctc
     1501 ctgaagatac tgggatgtct gtctatccag aaccctgggg tcctccggtg acagtcacca
     1561 gggcagcctc tccttcaggg ccacctccta tgaaaattgc aggagattgc cgggccatca
     1621 gacccactgt ggctattccc cacgagccag tttcctctag gacagatgaa gcagagactt
     1681 gggatgtgtg tctgtctggg ctgggctccg cagtcagtta ctcagacaga gtgggtccct
     1741 tctttaccta caacaatgag gatttttgaa agacaatcca ggggacataa tagcagtgtg
     1801 catgcaggca ggaggcaggg aaatgtgaaa tggcaatgat ctcttattga gttgggagat
     1861 tcaccttgtg tgcaaagaaa cacagatagt agtaaaaatt ctgagtaact gagaaaataa
     1921 tcagttggaa atgattagat aatatgggaa atttcacaca gcattttgaa actggctaca
     1981 atacatagaa gtagtgagga aagtgtgagt ctctcaaatg aacaaataag caaactgtag
     2041 gaggttaaat actgacctaa gttcacttag cttattagca ggagtagaag tcaaggattc
     2101 tggttcttat tctaggactt ttcccattag agcaccttag ggaatttcac atccctagag
     2161 gctgccaaaa tagcttcagg aagaaatttt tacaatctta tcacctgagt catttcatga
     2221 aatttttgtt tagcatttag aacctgttaa actagcttca ggaagtaatt ttgattgttt
     2281 tatctccaac gtgtgtatct acagcttttc aaaaaatctc tagcaatggt aaagttcagt
     2341 tgtttttaaa agattcaata ttagcttttc ataacatgat agtttcctaa ccttttcata
     2401 accttttcat aacatgatag tttccataac agagacagcc taacaatgat gagttgtatt
     2461 taatggatta ccattgtact aaatacattt tttttctgat taggtttcag aattataatt
     2521 aaaatgtttt gctgaaatac a
//
