LOCUS       NM_002075               1657 bp    mRNA    linear   PRI 07-APR-2024
DEFINITION  Homo sapiens G protein subunit beta 3 (GNB3), transcript variant 1,
            mRNA.
ACCESSION   NM_002075 XM_005253679 XM_005277751
VERSION     NM_002075.4
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 1657)
  AUTHORS   Samoylov,A.N., Tumanova,P., Pankratova,S.A., Ashryatova,L.S. and
            Plotnikov,D.
  TITLE     Association of GNB3, ACE polymorphisms with POAG and NTG
  JOURNAL   Ophthalmic Genet 45 (1), 23-27 (2024)
   PUBMED   37997634
  REMARK    GeneRIF: Association of GNB3, ACE polymorphisms with POAG and NTG.
REFERENCE   2  (bases 1 to 1657)
  AUTHORS   Agostini,L.D.C., Silva,N.N.T., Lopes,A.C.F., Melo,A.S.,
            Bicalho,L.S.M., Almeida,T.C., Belo,V.A., Coura-Vital,W.,
            Teixeira,L.F.M., Lima,A.A. and Silva,G.N.D.
  TITLE     G Protein Subunit Beta 3 (GNB3) Variant Is Associated with
            Biochemical Changes in Brazilian Patients with Hypertension
  JOURNAL   Arq Bras Cardiol 120 (12), e20230396 (2023)
   PUBMED   38126445
  REMARK    GeneRIF: G Protein Subunit Beta 3 (GNB3) Variant Is Associated with
            Biochemical Changes in Brazilian Patients with Hypertension.
REFERENCE   3  (bases 1 to 1657)
  AUTHORS   Gholami,M., Zoughi,M., Behboo,R., Taslimi,R., Kazemeini,A.,
            Bastami,M., Hasani-Ranjbar,S., Larijani,B. and Amoli,M.M.
  TITLE     Association of miRNA targetome variants in LAMC1 and GNB3 genes
            with colorectal cancer and obesity
  JOURNAL   Cancer Med 11 (21), 3923-3938 (2022)
   PUBMED   35373932
  REMARK    GeneRIF: Association of miRNA targetome variants in LAMC1 and GNB3
            genes with colorectal cancer and obesity.
REFERENCE   4  (bases 1 to 1657)
  AUTHORS   Sydorchuk,A.R., Sydorchuk,L.P., Gutnitska,A.F., Dzhuryak,V.S.,
            Kryvetska,I.I., Sydorchuk,R.I., Ursuliak,Y.V. and Iftoda,O.M.
  TITLE     Endothelium function biomarkers and carotid intima-media thickness
            changes in relation to NOS3 (rs2070744) and GNB3 (rs5443) genes
            polymorphism in the essential arterial hypertension
  JOURNAL   Endocr Regul 56 (2), 104-114 (2022)
   PUBMED   35489051
  REMARK    GeneRIF: Endothelium function biomarkers and carotid intima-media
            thickness changes in relation to NOS3 (rs2070744) and GNB3 (rs5443)
            genes polymorphism in the essential arterial hypertension.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1657)
  AUTHORS   Rosskopf,D., Kielbik,M., Manthey,I., Bilmen,G., Eisenhardt,A. and
            Siffert,W.
  TITLE     Characterization of the splice variant Gbeta3v of the human
            G-protein Gbeta3 subunit
  JOURNAL   Biochim Biophys Acta 1626 (1-3), 33-42 (2003)
   PUBMED   12697327
  REMARK    GeneRIF: Characterization of the splice variant Gbeta3v.
REFERENCE   6  (bases 1 to 1657)
  AUTHORS   Yan,K., Kalyanaraman,V. and Gautam,N.
  TITLE     Differential ability to form the G protein betagamma complex among
            members of the beta and gamma subunit families
  JOURNAL   J Biol Chem 271 (12), 7141-7146 (1996)
   PUBMED   8636150
REFERENCE   7  (bases 1 to 1657)
  AUTHORS   Garcia-Higuera,I., Thomas,T.C., Yi,F. and Neer,E.J.
  TITLE     Intersubunit surfaces in G protein alpha beta gamma heterotrimers.
            Analysis by cross-linking and mutagenesis of beta gamma
  JOURNAL   J Biol Chem 271 (1), 528-535 (1996)
   PUBMED   8550614
REFERENCE   8  (bases 1 to 1657)
  AUTHORS   Wedegaertner,P.B., Wilson,P.T. and Bourne,H.R.
  TITLE     Lipid modifications of trimeric G proteins
  JOURNAL   J Biol Chem 270 (2), 503-506 (1995)
   PUBMED   7822269
  REMARK    Review article
REFERENCE   9  (bases 1 to 1657)
  AUTHORS   Levine,M.A., Modi,W.S. and O'Brien,S.J.
  TITLE     Chromosomal localization of the genes encoding two forms of the G
            protein beta polypeptide, beta 1 and beta 3, in man
  JOURNAL   Genomics 8 (2), 380-386 (1990)
   PUBMED   1979057
REFERENCE   10 (bases 1 to 1657)
  AUTHORS   Levine,M.A., Smallwood,P.M., Moen,P.T. Jr., Helman,L.J. and
            Ahn,T.G.
  TITLE     Molecular cloning of beta 3 subunit, a third form of the G protein
            beta-subunit polypeptide
  JOURNAL   Proc Natl Acad Sci U S A 87 (6), 2329-2333 (1990)
   PUBMED   2107550
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AU143349.1, BC002454.2 and
            U47924.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_002075.3.
            
            Summary: Heterotrimeric guanine nucleotide-binding proteins (G
            proteins), which integrate signals between receptors and effector
            proteins, are composed of an alpha, a beta, and a gamma subunit.
            These subunits are encoded by families of related genes. This gene
            encodes a beta subunit which belongs to the WD repeat G protein
            beta family. Beta subunits are important regulators of alpha
            subunits, as well as of certain signal transduction receptors and
            effectors. A single-nucleotide polymorphism (C825T) in this gene is
            associated with essential hypertension and obesity. This
            polymorphism is also associated with the occurrence of the splice
            variant GNB3-s, which appears to have increased activity. GNB3-s is
            an example of alternative splicing caused by a nucleotide change
            outside of the splice donor and acceptor sites. Alternative
            splicing results in multiple transcript variants. Additional
            alternatively spliced transcript variants of this gene have been
            described, but their full-length nature is not known. [provided by
            RefSeq, Jul 2014].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer isoform (1).
            
            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 :: BC002454.2, AB593099.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000229264.8/ ENSP00000229264.3
            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
            1-9                 AU143349.1         72-80
            10-952              BC002454.2         1-943
            953-953             U47924.1           57710-57710
            954-1657            BC002454.2         945-1648
FEATURES             Location/Qualifiers
     source          1..1657
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="12"
                     /map="12p13.31"
     gene            1..1657
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /note="G protein subunit beta 3"
                     /db_xref="GeneID:2784"
                     /db_xref="HGNC:HGNC:4400"
                     /db_xref="MIM:139130"
     exon            1..109
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            110..196
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     CDS             140..1162
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /note="isoform 1 is encoded by transcript variant 1;
                     guanine nucleotide-binding protein G(I)/G(S)/G(T) beta
                     subunit 3; GTP-binding regulatory protein beta-3 chain;
                     transducin beta chain 3; G protein, beta-3 subunit;
                     guanine nucleotide binding protein (G protein), beta
                     polypeptide 3; hypertension associated protein;
                     heterotrimeric guanine nucleotide-binding protein 2D"
                     /codon_start=1
                     /product="guanine nucleotide-binding protein
                     G(I)/G(S)/G(T) subunit beta-3 isoform 1"
                     /protein_id="NP_002066.1"
                     /db_xref="CCDS:CCDS8564.1"
                     /db_xref="GeneID:2784"
                     /db_xref="HGNC:HGNC:4400"
                     /db_xref="MIM:139130"
                     /translation="MGEMEQLRQEAEQLKKQIADARKACADVTLAELVSGLEVVGRVQ
                     MRTRRTLRGHLAKIYAMHWATDSKLLVSASQDGKLIVWDSYTTNKVHAIPLRSSWVMT
                     CAYAPSGNFVACGGLDNMCSIYNLKSREGNVKVSRELSAHTGYLSCCRFLDDNNIVTS
                     SGDTTCALWDIETGQQKTVFVGHTGDCMSLAVSPDFNLFISGACDASAKLWDVREGTC
                     RQTFTGHESDINAICFFPNGEAICTGSDDASCRLFDLRADQELICFSHESIICGITSV
                     AFSLSGRLLFAGYDDFNCNVWDSMKSERVGILSGHDNRVSCLGVTADGMAVATGSWDS
                     FLKIWN"
     exon            197..235
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            236..342
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            343..406
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            407..569
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            570..636
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            637..838
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            839..1055
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     exon            1056..1657
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1636..1641
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /note="hexamer: AATAAA"
     polyA_site      1657
                     /gene="GNB3"
                     /gene_synonym="CSNB1H; HG2D"
                     /note="major polyA site"
ORIGIN      
        1 agcagagcct gggcaggtga cgggcgggcg cgggcgtcgc agctgaggga gtaaggaggc
       61 tcccaggaac cggagctgga aacccggccg aggtccagcc agagcccaag agccagagtg
      121 acccctcgac ctgtcagcca tgggggagat ggagcaactg cgtcaggaag cggagcagct
      181 caagaagcag attgcagatg ccaggaaagc ctgtgctgac gttactctgg cagagctggt
      241 gtctggccta gaggtggtgg gacgagtcca gatgcggacg cggcggacgt taaggggaca
      301 cctggccaag atttacgcca tgcactgggc cactgattct aagctgctgg taagtgcctc
      361 gcaagatggg aagctgatcg tgtgggacag ctacaccacc aacaaggtgc acgccatccc
      421 actgcgctcc tcctgggtca tgacctgtgc ctatgcccca tcagggaact ttgtggcatg
      481 tggggggctg gacaacatgt gttccatcta caacctcaaa tcccgtgagg gcaatgtcaa
      541 ggtcagccgg gagctttctg ctcacacagg ttatctctcc tgctgccgct tcctggatga
      601 caacaatatt gtgaccagct cgggggacac cacgtgtgcc ttgtgggaca ttgagactgg
      661 gcagcagaag actgtatttg tgggacacac gggtgactgc atgagcctgg ctgtgtctcc
      721 tgacttcaat ctcttcattt cgggggcctg tgatgccagt gccaagctct gggatgtgcg
      781 agaggggacc tgccgtcaga ctttcactgg ccacgagtcg gacatcaacg ccatctgttt
      841 cttccccaat ggagaggcca tctgcacggg ctcggatgac gcttcctgcc gcttgtttga
      901 cctgcgggca gaccaggagc tgatctgctt ctcccacgag agcatcatct gcggcatcac
      961 gtccgtggcc ttctccctca gtggccgcct actattcgct ggctacgacg acttcaactg
     1021 caatgtctgg gactccatga agtctgagcg tgtgggcatc ctctctggcc acgataacag
     1081 ggtgagctgc ctgggagtca cagctgacgg gatggctgtg gccacaggtt cctgggacag
     1141 cttcctcaaa atctggaact gaggaggctg gagaaaggga agtggaaggc agtgaacaca
     1201 ctcagcagcc ccctgcccga ccccatctca ttcaggtgtt ctcttctata ttccgggtgc
     1261 cattcccact aagctttctc ctttgagggc agtggggagc atgggactgt gcctttggga
     1321 ggcagcatca gggacacagg ggcaaagaac tgccccatct cctcccatgg ccttccctcc
     1381 ccacagtcct cacagcctct cccttaatga gcaaggacaa cctgcccctc cccagccctt
     1441 tgcaggccca gcagacttga gtctgaggcc ccaggcccta ggattcctcc cccagagcca
     1501 ctacctttgt ccaggcctgg gtggtatagg gcgtttggcc ctgtgactat ggctctggca
     1561 ccactagggt cctggccctc ttcttattca tgctttctcc tttttctacc tttttttctc
     1621 tcctaagaca cctgcaataa agtgtagcac cctggta
//
