LOCUS       NM_173527               1858 bp    mRNA    linear   PRI 01-JUN-2024
DEFINITION  Homo sapiens RRAD and GEM like GTPase 2 (REM2), mRNA.
ACCESSION   NM_173527
VERSION     NM_173527.3
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 1858)
  AUTHORS   Luck,K., Kim,D.K., Lambourne,L., Spirohn,K., Begg,B.E., Bian,W.,
            Brignall,R., Cafarelli,T., Campos-Laborie,F.J., Charloteaux,B.,
            Choi,D., Cote,A.G., Daley,M., Deimling,S., Desbuleux,A., Dricot,A.,
            Gebbia,M., Hardy,M.F., Kishore,N., Knapp,J.J., Kovacs,I.A.,
            Lemmens,I., Mee,M.W., Mellor,J.C., Pollis,C., Pons,C.,
            Richardson,A.D., Schlabach,S., Teeking,B., Yadav,A., Babor,M.,
            Balcha,D., Basha,O., Bowman-Colin,C., Chin,S.F., Choi,S.G.,
            Colabella,C., Coppin,G., D'Amata,C., De Ridder,D., De Rouck,S.,
            Duran-Frigola,M., Ennajdaoui,H., Goebels,F., Goehring,L., Gopal,A.,
            Haddad,G., Hatchi,E., Helmy,M., Jacob,Y., Kassa,Y., Landini,S.,
            Li,R., van Lieshout,N., MacWilliams,A., Markey,D., Paulson,J.N.,
            Rangarajan,S., Rasla,J., Rayhan,A., Rolland,T., San-Miguel,A.,
            Shen,Y., Sheykhkarimli,D., Sheynkman,G.M., Simonovsky,E., Tasan,M.,
            Tejeda,A., Tropepe,V., Twizere,J.C., Wang,Y., Weatheritt,R.J.,
            Weile,J., Xia,Y., Yang,X., Yeger-Lotem,E., Zhong,Q., Aloy,P.,
            Bader,G.D., De Las Rivas,J., Gaudet,S., Hao,T., Rak,J.,
            Tavernier,J., Hill,D.E., Vidal,M., Roth,F.P. and Calderwood,M.A.
  TITLE     A reference map of the human binary protein interactome
  JOURNAL   Nature 580 (7803), 402-408 (2020)
   PUBMED   32296183
REFERENCE   2  (bases 1 to 1858)
  AUTHORS   Royer,L., Herzog,J.J., Kenny,K., Tzvetkova,B., Cochrane,J.C.,
            Marr,M.T. 2nd and Paradis,S.
  TITLE     The Ras-like GTPase Rem2 is a potent inhibitor of
            calcium/calmodulin-dependent kinase II activity
  JOURNAL   J Biol Chem 293 (38), 14798-14811 (2018)
   PUBMED   30072381
  REMARK    GeneRIF: report that substitution of two key amino acid residues in
            the Rem2 N terminus (Arg-79 and Arg-80) completely abolishes its
            ability to inhibit CaMKII
REFERENCE   3  (bases 1 to 1858)
  AUTHORS   Chai,S., Wan,X., Ramirez-Navarro,A., Tesar,P.J., Kaufman,E.S.,
            Ficker,E., George,A.L. Jr. and Deschenes,I.
  TITLE     Physiological genomics identifies genetic modifiers of long QT
            syndrome type 2 severity
  JOURNAL   J Clin Invest 128 (3), 1043-1056 (2018)
   PUBMED   29431731
  REMARK    GeneRIF: 2 novel gene variants in REM2 and KCNK17 that provide a
            physiologically plausible explanation for variable expressivity in
            a large subset of patients in a multigenerational long QT syndrome
            type 2 family
REFERENCE   4  (bases 1 to 1858)
  AUTHORS   Yang,X., Coulombe-Huntington,J., Kang,S., Sheynkman,G.M., Hao,T.,
            Richardson,A., Sun,S., Yang,F., Shen,Y.A., Murray,R.R., Spirohn,K.,
            Begg,B.E., Duran-Frigola,M., MacWilliams,A., Pevzner,S.J.,
            Zhong,Q., Wanamaker,S.A., Tam,S., Ghamsari,L., Sahni,N., Yi,S.,
            Rodriguez,M.D., Balcha,D., Tan,G., Costanzo,M., Andrews,B.,
            Boone,C., Zhou,X.J., Salehi-Ashtiani,K., Charloteaux,B., Chen,A.A.,
            Calderwood,M.A., Aloy,P., Roth,F.P., Hill,D.E., Iakoucheva,L.M.,
            Xia,Y. and Vidal,M.
  TITLE     Widespread Expansion of Protein Interaction Capabilities by
            Alternative Splicing
  JOURNAL   Cell 164 (4), 805-817 (2016)
   PUBMED   26871637
REFERENCE   5  (bases 1 to 1858)
  AUTHORS   Moore,A.R., Ghiretti,A.E. and Paradis,S.
  TITLE     A loss-of-function analysis reveals that endogenous Rem2 promotes
            functional glutamatergic synapse formation and restricts dendritic
            complexity
  JOURNAL   PLoS One 8 (8), e74751 (2013)
   PUBMED   23991227
  REMARK    GeneRIF: conclude that endogenous Rem2 is a positive regulator of
            functional, excitatory synapse development and a negative regulator
            of dendritic complexity
            Publication Status: Online-Only
REFERENCE   6  (bases 1 to 1858)
  AUTHORS   Ghiretti,A.E. and Paradis,S.
  TITLE     The GTPase Rem2 regulates synapse development and dendritic
            morphology
  JOURNAL   Dev Neurobiol 71 (5), 374-389 (2011)
   PUBMED   21485012
  REMARK    GeneRIF: our results suggest that Rem2 regulates dendritic
            branching and synapse development
REFERENCE   7  (bases 1 to 1858)
  AUTHORS   Edel,M.J., Menchon,C., Menendez,S., Consiglio,A., Raya,A. and
            Izpisua Belmonte,J.C.
  TITLE     Rem2 GTPase maintains survival of human embryonic stem cells as
            well as enhancing reprogramming by regulating p53 and cyclin D1
  JOURNAL   Genes Dev 24 (6), 561-573 (2010)
   PUBMED   20231315
  REMARK    GeneRIF: Rem2 mediates the fibroblastic growth factor 2 (FGF2)
            signaling pathway to maintain proliferation of hESCsby suppressing
            the transcriptional activity of p53 and cyclin D(1)
REFERENCE   8  (bases 1 to 1858)
  AUTHORS   Bierings,R., Beato,M. and Edel,M.J.
  TITLE     An endothelial cell genetic screen identifies the GTPase Rem2 as a
            suppressor of p19ARF expression that promotes endothelial cell
            proliferation and angiogenesis
  JOURNAL   J Biol Chem 283 (7), 4408-4416 (2008)
   PUBMED   18056257
  REMARK    GeneRIF: data unravel a possible molecular mechanism for
            Rem2-induced angiogenesis and suggests Rem2 as a potential novel
            target for treating pathological angiogenesis
REFERENCE   9  (bases 1 to 1858)
  AUTHORS   Finlin,B.S., Mosley,A.L., Crump,S.M., Correll,R.N., Ozcan,S.,
            Satin,J. and Andres,D.A.
  TITLE     Regulation of L-type Ca2+ channel activity and insulin secretion by
            the Rem2 GTPase
  JOURNAL   J Biol Chem 280 (51), 41864-41871 (2005)
   PUBMED   15728182
  REMARK    GeneRIF: inhibition of L-type Ca2+ channels by Rem2 signaling may
            represent a new and potentially important mechanism for regulating
            Ca2+-triggered exocytosis in hormone-secreting cells, including
            insulin secretion in pancreatic beta-cells
REFERENCE   10 (bases 1 to 1858)
  AUTHORS   Finlin,B.S., Shao,H., Kadono-Okuda,K., Guo,N. and Andres,D.A.
  TITLE     Rem2, a new member of the Rem/Rad/Gem/Kir family of Ras-related
            GTPases
  JOURNAL   Biochem J 347 Pt 1 (Pt 1), 223-231 (2000)
   PUBMED   10727423
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AL135998.6, AK096283.1 and BC035663.1.
            
            On Nov 22, 2018 this sequence version replaced NM_173527.2.
            
            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 :: AK096283.1, BC035663.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000267396.9/ ENSP00000267396.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 AL135998.6         21962-21962         c
            2-10                AK096283.1         1-9
            11-1858             BC035663.1         1-1848
FEATURES             Location/Qualifiers
     source          1..1858
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="14"
                     /map="14q11.2"
     gene            1..1858
                     /gene="REM2"
                     /note="RRAD and GEM like GTPase 2"
                     /db_xref="GeneID:161253"
                     /db_xref="HGNC:HGNC:20248"
                     /db_xref="MIM:616955"
     exon            1..169
                     /gene="REM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1089
                     /gene="REM2"
                     /EC_number="3.6.5.2"
                     /note="Rad and Gem-related 2 (rat homolog); rad and
                     Gem-like GTP-binding protein 2; RAS-like GTP binding 2;
                     RAS (RAD and GEM)-like GTP binding 2"
                     /codon_start=1
                     /product="GTP-binding protein REM 2"
                     /protein_id="NP_775798.2"
                     /db_xref="CCDS:CCDS45082.1"
                     /db_xref="GeneID:161253"
                     /db_xref="HGNC:HGNC:20248"
                     /db_xref="MIM:616955"
                     /translation="MHTDLDTDMDMDTETTALCPSGSRRASPPGTPTPEADATLLKKS
                     EKLLAELDRSGLPSAPGAPRRRGSMPVPYKHQLRRAQAVDELDWPPQASSSGSSDSLG
                     SGEAAPAQKDGIFKVMLVGESGVGKSTLAGTFGGLQGDSAHEPENPEDTYERRIMVDK
                     EEVTLVVYDIWEQGDAGGWLRDHCLQTGDAFLIVFSVTDRRSFSKVPETLLRLRAGRP
                     HHDLPVILVGNKSDLARSREVSLEEGRHLAGTLSCKHIETSAALHHNTRELFEGAVRQ
                     IRLRRGRNHAGGQRPDPGSPEGPAPPARRESLTKKAKRFLANLVPRNAKFFKQRSRSC
                     HDLSVL"
     exon            170..511
                     /gene="REM2"
                     /inference="alignment:Splign:2.1.0"
     exon            512..585
                     /gene="REM2"
                     /inference="alignment:Splign:2.1.0"
     exon            586..793
                     /gene="REM2"
                     /inference="alignment:Splign:2.1.0"
     exon            794..1858
                     /gene="REM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1837..1842
                     /regulatory_class="polyA_signal_sequence"
                     /gene="REM2"
                     /note="hexamer: AATAAA"
     polyA_site      1858
                     /gene="REM2"
                     /note="major polyA site"
ORIGIN      
        1 gagtgaggga gagggtgctg cgagctgctg ggctgcacac gcacacgcac acgcacacgc
       61 acactgatgc acacggacct ggacacagac atggacatgg acacagaaac cacagcactc
      121 tgcccctctg gcagccgccg ggcctcccct ccagggacgc ccacaccaga agcagatgcc
      181 acgctactaa agaagtcaga gaaactgttg gcagagttgg accggagcgg gttaccctct
      241 gcccctgggg cccccagacg aagaggcagt atgcctgtcc cctacaagca ccagctccgg
      301 cgggcccagg ctgtagatga acttgactgg ccacctcagg cctcatcctc tggctcgtct
      361 gactccttgg gctcagggga ggcagcccct gctcaaaagg atggcatctt caaggtcatg
      421 ctagtggggg agagcggcgt gggcaagagc accctagcag gcacttttgg tggtctccag
      481 ggagacagtg ctcacgaacc ggagaaccca gaggatacct atgagagacg catcatggtg
      541 gataaggagg aagtgactct agtcgtttat gacatctggg aacaggggga tgcaggaggg
      601 tggctgcggg accactgcct tcagaccggg gacgcctttc tcatcgtctt ctcagtcacc
      661 gaccgacgga gtttctccaa agttccagag accctacttc ggctccgggc tgggaggccg
      721 caccacgacc tacccgttat cctcgttgga aacaagagcg acttggcccg ctcccgggag
      781 gtatcactgg aggagggccg ccacctggcc gggacgctga gctgcaagca catcgagacg
      841 tcggccgcac tgcaccacaa cacgagggag ctcttcgagg gcgcggtgcg ccagatccgg
      901 ctgcggcggg gccgaaacca cgccggaggc cagaggcccg atccgggcag ccccgagggc
      961 cctgcgccac ctgcacgccg cgagagcctc accaagaaag ccaagaggtt cctcgccaac
     1021 ctggtgccgc gcaacgccaa gttcttcaag cagcgctcca ggtcgtgtca cgacctctcg
     1081 gtgctctgag ccgcggtcgc catggccact gcggtcgcca tggtcaccgc gccctccgct
     1141 cgccccccct cgccccgccc cgcccccgtc cggcttcctt ggtggaggcc gtctaggaaa
     1201 ccaaaaactc ccaggatgcc ccggtgtgac cgccgggggc ggcccggggc cgctcggcgg
     1261 cacctccaca cccgccccaa cgcgttctct ggagctttgg gcctcagggc gcctagaagg
     1321 cgaggacgca gacctgaagg cggccggtga gcggggcggg ttctgctggg tcgggaagaa
     1381 aaataattct gcaaggtatt ttgtttttta ttaattcgcg cttggccacc tcatctgtaa
     1441 agagattcta aaagcaagat ctggaaaagt gcttcgtaga ctccttgacg gagtttgcct
     1501 cctttgtacg ctgcgtgaac atgcctcacc tttaagagag tcttaaaggt aaagacacga
     1561 aaacacttcc tccagggacc ttcccgaaaa cgttctggct ctcatctggt gcggcatgtg
     1621 tccactttgc ctttaaggag ttcttaaagg caagggcctg gaagtgctgt tcctgagatg
     1681 gattctcttg acttaccagt ccaccacggc acttcccctt taaggttatt aaaggtaagg
     1741 ggtggacaga ctttctgcat tcagataatg agcagtggca accccttttg gccagggcca
     1801 ggggggcacc agcaaggggc caccctttcc cttttcaata aataattttt gtactgcc
//
