LOCUS       NM_014310               3447 bp    mRNA    linear   PRI 03-APR-2024
DEFINITION  Homo sapiens RASD family member 2 (RASD2), transcript variant 1,
            mRNA.
ACCESSION   NM_014310
VERSION     NM_014310.4
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 3447)
  AUTHORS   Serra,M., Pinna,A., Costa,G., Usiello,A., Pasqualetti,M.,
            Avallone,L., Morelli,M. and Napolitano,F.
  TITLE     Involvement of the Protein Ras Homolog Enriched in the Striatum,
            Rhes, in Dopaminergic Neurons' Degeneration: Link to Parkinson's
            Disease
  JOURNAL   Int J Mol Sci 22 (10), 5326 (2021)
   PUBMED   34070217
  REMARK    GeneRIF: Involvement of the Protein Ras Homolog Enriched in the
            Striatum, Rhes, in Dopaminergic Neurons' Degeneration: Link to
            Parkinson's Disease.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 3447)
  AUTHORS   Carbo,M., Brandi,V., Pascarella,G., Staid,D.S., Colotti,G.,
            Polticelli,F., Ilari,A. and Morea,V.
  TITLE     Bioinformatics analysis of Ras homologue enriched in the striatum,
            a potential target for Huntington's disease therapy
  JOURNAL   Int J Mol Med 44 (6), 2223-2233 (2019)
   PUBMED   31638189
  REMARK    GeneRIF: These regions have been used to design peptides aimed at
            inhibiting RHES interactions and, therefore, mHtt sumoylation; in
            turn, these peptides will be used to develop small molecule
            inhibitors by both rational design and virtual screening of large
            compound libraries.
REFERENCE   3  (bases 1 to 3447)
  AUTHORS   Mizuno,H. and Taketomi,A.
  TITLE     MicroRNA-101 inhibits the expression of Rhes, a striatal-enriched
            small G-protein, at the post-transcriptional level in vitro
  JOURNAL   BMC Res Notes 11 (1), 528 (2018)
   PUBMED   30064488
  REMARK    GeneRIF: results support the hypothesis that Rhes expression is
            regulated by miRNA and indicate that miR-101 may be a potent
            modulator of Rhes expression in striatal neurons.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 3447)
  AUTHORS   Vitucci,D., Di Giorgio,A., Napolitano,F., Pelosi,B., Blasi,G.,
            Errico,F., Attrotto,M.T., Gelao,B., Fazio,L., Taurisano,P., Di
            Maio,A., Marsili,V., Pasqualetti,M., Bertolino,A. and Usiello,A.
  TITLE     Rasd2 Modulates Prefronto-Striatal Phenotypes in Humans and
            'Schizophrenia-Like Behaviors' in Mice
  JOURNAL   Neuropsychopharmacology 41 (3), 916-927 (2016)
   PUBMED   26228524
  REMARK    GeneRIF: Study demonstrated that variation in the gene coding for
            RASD2 (rs6518956) affects in vivo prefrontal and striatal
            phenotypes in healthy human subjects that are relevant to
            schizophrenia
REFERENCE   5  (bases 1 to 3447)
  AUTHORS   Ghiglieri,V., Napolitano,F., Pelosi,B., Schepisi,C., Migliarini,S.,
            Di Maio,A., Pendolino,V., Mancini,M., Sciamanna,G., Vitucci,D.,
            Maddaloni,G., Giampa,C., Errico,F., Nistico,R., Pasqualetti,M.,
            Picconi,B. and Usiello,A.
  TITLE     Rhes influences striatal cAMP/PKA-dependent signaling and synaptic
            plasticity in a gender-sensitive fashion
  JOURNAL   Sci Rep 5, 10933 (2015)
   PUBMED   26190541
  REMARK    GeneRIF: Rhes influences striatal cAMP/PKA-dependent signaling and
            synaptic plasticity in a gender-sensitive fashion
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 3447)
  AUTHORS   Agretti,P., De Marco,G., Pinchera,A., Vitti,P., Bernal,J. and
            Tonacchera,M.
  TITLE     Ras homolog enriched in striatum inhibits the functional activity
            of wild type thyrotropin, follicle-stimulating hormone, luteinizing
            hormone receptors and activating thyrotropin receptor mutations by
            altering their expression in COS-7 cells
  JOURNAL   J Endocrinol Invest 30 (4), 279-284 (2007)
   PUBMED   17556863
  REMARK    GeneRIF: Rhes can interfere with the functional activity of wt and
            mutated TSHr and with the respective hormone-stimulated cAMP
            production of FSHr and LHr.
REFERENCE   7  (bases 1 to 3447)
  AUTHORS   Taylor,J.P., Jackson,D.A., Morgan,N.G. and Chan,S.L.
  TITLE     Rhes expression in pancreatic beta-cells is regulated by efaroxan
            in a calcium-dependent process
  JOURNAL   Biochem Biophys Res Commun 349 (2), 809-815 (2006)
   PUBMED   16945334
  REMARK    GeneRIF: Rhes is an imidazoline-regulated transcript in pancreatic
            beta-cells
REFERENCE   8  (bases 1 to 3447)
  AUTHORS   Vargiu,P., De Abajo,R., Garcia-Ranea,J.A., Valencia,A.,
            Santisteban,P., Crespo,P. and Bernal,J.
  TITLE     The small GTP-binding protein, Rhes, regulates signal transduction
            from G protein-coupled receptors
  JOURNAL   Oncogene 23 (2), 559-568 (2004)
   PUBMED   14724584
REFERENCE   9  (bases 1 to 3447)
  AUTHORS   Chan,S.L., Monks,L.K., Gao,H., Deaville,P. and Morgan,N.G.
  TITLE     Identification of the monomeric G-protein, Rhes, as an
            efaroxan-regulated protein in the pancreatic beta-cell
  JOURNAL   Br J Pharmacol 136 (1), 31-36 (2002)
   PUBMED   11976265
REFERENCE   10 (bases 1 to 3447)
  AUTHORS   St Croix,B., Rago,C., Velculescu,V., Traverso,G., Romans,K.E.,
            Montgomery,E., Lal,A., Riggins,G.J., Lengauer,C., Vogelstein,B. and
            Kinzler,K.W.
  TITLE     Genes expressed in human tumor endothelium
  JOURNAL   Science 289 (5482), 1197-1202 (2000)
   PUBMED   10947988
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL022334.1 and BC013419.2.
            
            On Oct 17, 2018 this sequence version replaced NM_014310.3.
            
            Summary: This gene belongs to the Ras superfamily of small GTPases
            and is enriched in the striatum. The encoded protein functions as
            an E3 ligase for attachment of small ubiquitin-like modifier
            (SUMO). This protein also binds to mutant huntingtin (mHtt), the
            protein mutated in Huntington disease (HD). Sumoylation of mHTT by
            this protein may cause degeneration of the striatum. The protein
            functions as an activator of mechanistic target of rapamycin 1
            (mTOR1), which in turn plays a role in myelination, axon growth and
            regeneration. Reduced levels of mRNA expressed by this gene were
            found in HD patients. [provided by RefSeq, Jan 2016].
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript 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 :: BC013419.2, SRR1803615.228277.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000216127.5/ ENSP00000216127.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-474               AL022334.1         47254-47727
            475-3021            BC013419.2         3-2549
            3022-3447           AL022334.1         59997-60422
FEATURES             Location/Qualifiers
     source          1..3447
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q12.3"
     gene            1..3447
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /note="RASD family member 2"
                     /db_xref="GeneID:23551"
                     /db_xref="HGNC:HGNC:18229"
                     /db_xref="MIM:612842"
     exon            1..670
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            671..950
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             680..1480
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /EC_number="3.6.5.2"
                     /note="tumor endothelial marker 2; Ras homolog enriched in
                     striatum; GTP-binding protein Rhes"
                     /codon_start=1
                     /product="GTP-binding protein Rhes precursor"
                     /protein_id="NP_055125.2"
                     /db_xref="CCDS:CCDS13916.1"
                     /db_xref="GeneID:23551"
                     /db_xref="HGNC:HGNC:18229"
                     /db_xref="MIM:612842"
                     /translation="MMKTLSSGNCTLSVPAKNSYRMVVLGASRVGKSSIVSRFLNGRF
                     EDQYTPTIEDFHRKVYNIRGDMYQLDILDTSGNHPFPAMRRLSILTGDVFILVFSLDN
                     RESFDEVKRLQKQILEVKSCLKNKTKEAAELPMVICGNKNDHGELCRQVPTTEAELLV
                     SGDENCAYFEVSAKKNTNVDEMFYVLFSMAKLPHEMSPALHRKISVQYGDAFHPRPFC
                     MRRVKEMDAYGMVSPFARRPSVNSDLKYIKAKVLREGQARERDKCTIQ"
     exon            951..3447
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3425..3430
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /note="hexamer: AATAAA"
     polyA_site      3447
                     /gene="RASD2"
                     /gene_synonym="Rhes; TEM2"
                     /note="major polyA site"
ORIGIN      
        1 agagcgccct gctcctcctt cagctgctgg cgtcgccgcg cggggagaaa gaagccgtcc
       61 ctccggcgct gggagagctg cagagccgcg ggcagagaag gaggccgcgg ccgagcccgg
      121 cagcccgata ccccccatcc gagcgacccc ctttggggca ggcggagaag gtggcatagg
      181 cgaccaggag ggttcgccca cctgggacac gcacccacag tcacctccaa aggacccccc
      241 ctccccaagt ctctaggagc tgctccttca tcactggagt cgcccctacc tctctgcccc
      301 cagcccgaga gccccaggcg gggacccccg gatcggacgt ccccaagcct ccgggcacct
      361 ggctcagcag gaggcccccg gctcggggca gggcagggcc ggcggcggcg agccggagcc
      421 cgccccctgc ccgggccccg ccgagccctc ggagcccacc catggggcac ctgccccttg
      481 cgcctccttg cccggccgcg cccagcccgg cgtcccgagc agcgcagggg aggatccccg
      541 cgcagtgacc cgggagccac cacagactct gggaggctcg gcggctggag cagcaggcag
      601 ctccccgcag ctcccggcgc ttccaggcag ctctctgagc cgtgccagag gcccggcccg
      661 ccattcccag ccccgagcca tgatgaagac tttgtccagc gggaactgca cgctcagtgt
      721 gcccgccaaa aactcatacc gcatggtggt gctgggtgcc tctcgggtgg gcaagagctc
      781 catcgtgtct cgcttcctca atggccgctt tgaggaccag tacacaccca ccatcgagga
      841 cttccaccgt aaggtataca acatccgcgg cgacatgtac cagctcgaca tcctggatac
      901 ctctggcaac caccccttcc ccgccatgcg caggctgtcc atcctcacag gggatgtctt
      961 catcctggtg ttcagcctgg ataaccggga gtccttcgat gaggtcaagc gccttcagaa
     1021 gcagatcctg gaggtcaagt cctgcctgaa gaacaagacc aaggaggcgg cggagctgcc
     1081 catggtcatc tgtggcaaca agaacgacca cggcgagctg tgccgccagg tgcccaccac
     1141 cgaggccgag ctgctggtgt cgggcgacga gaactgcgcc tacttcgagg tgtcggccaa
     1201 gaagaacacc aacgtggacg agatgttcta cgtgctcttc agcatggcca agctgccaca
     1261 cgagatgagc cccgccctgc atcgcaagat ctccgtgcag tacggtgacg ccttccaccc
     1321 caggcccttc tgcatgcgcc gcgtcaagga gatggacgcc tatggcatgg tctcgccctt
     1381 cgcccgccgc cccagcgtca acagtgacct caagtacatc aaggccaagg tccttcggga
     1441 aggccaggcc cgtgagaggg acaagtgcac catccagtga gcgagggatg ctggggcggg
     1501 gcttggccag tgccttcagg gaggtggccc cagatgccca ctgtgcgcat ctccccaccg
     1561 aggccccggc agcagtcttg ttcacagacc ttaggcacca gactggaggc ccccgggcgc
     1621 tggcctccgc acattcgtct gccttctcac agctttcctg agtccgcttg tccacagctc
     1681 cttggtggtt tcatctcctc tgtgggagga cacatctctg cagcctcaag agttaggcag
     1741 agactcaagt tacaccttcc tctcctgggg ttggaagaaa tgttgatgcc agaggggtga
     1801 ggattgctgc gtcatatgga gcctcctggg acaagcctca ggatgaaaag gacacagaag
     1861 gccagatgag aaaggtctcc tctctcctgg cataacaccc agcttggttt gggtggcagc
     1921 tgggagaact tctctcccag ccctgcaact cttacgctct ggttcagctg cctctgcacc
     1981 ccctcccacc cccagcacac acacaagttg gcccccagct gcgcctgaca ttgagccagt
     2041 ggactctgtg tctgaagggg gcgtggccac acctcctaga ccacgcccac cacttagacc
     2101 acgcccacct cctgaccgcg ttcctcagcc tcctctccta ggtccctccg cccgacagtt
     2161 gtgctttgtt gtggttgcag ctgttttcgt gtcatgtata gtagtagaaa tggaaatcat
     2221 tgtactgtaa aagcctagtg actccctcct tggccaggcc ctcacccagt tcagatccac
     2281 ggcctccacc cgggacgcct tcctcctctg ctcccaaaca gggtttccgt ggcctgtttg
     2341 cagctagaca ttgacctccg ccattgagct ccacggttta cagacaattg cacaagcgtg
     2401 gggtgggcag gccaggactg ctttttttta atgctcccat ttcacagagg ataccaccga
     2461 gactcggagg ggacacgatg agcaccaggc cccacctttg tcccctagca aattcagggt
     2521 acagctccac ctagaaccag gctgccctct actgtgctcg ttcctcaagc atttattaag
     2581 cacctactgg gtgctgggtt cactgtgtcc taggaaacca agagggtccc cagtcctggc
     2641 ctctgcccgc ccctgctgcc ccaccacctt ctgcacacac agcggtgggg aggcggggag
     2701 gagcagctgg gacccagaac tgagcctggg agggatccga cagaaaagct cagggcgggt
     2761 cttctccttg tgcccgggat tgggctatgc tgggtaccac catgtactca ggcatggtgg
     2821 gttttgaacc cataaaccaa aggcccttgt catcagctct taacaagtat attttgtatt
     2881 ttaatctctc taaacatatt gaagttttag ggccctaagg aaccttagtg atcttctatt
     2941 gggtctttct gaggttcaga gagggtaagt aacttcctcc aggtcacaca gcaagtctgt
     3001 gggtggcaga agcaagctag cgctgggcat tcagtacata ccacgatgtg ctccctctct
     3061 tgatgcttgg cccctggggc cttcagggct ttgggacatc ttgtcctcaa ccctctccct
     3121 agatcagtct gtgagggtcc ctgtagatat tgtgtacacc atgcccatgt atatacaagt
     3181 acacacagat gtacacacag atgtacacat gctccagccc cagctctgca tacctgcacc
     3241 tgcaccccag ccttggcccc tgcctgcgtc tgtgctcaaa gcagcagctc caaccctgcc
     3301 tctgtcccct tccccaccca ctgcctgagc cttctgagca gaccaggtac cttggctgca
     3361 ccggtgtgtg gcccgctctc acccaggcac agccccgcca ccatggatct ccgtgtacac
     3421 tatcaataaa agtgggtttg ttacaaa
//
