LOCUS       NM_002930               1086 bp    mRNA    linear   PRI 06-JUN-2024
DEFINITION  Homo sapiens Ras like without CAAX 2 (RIT2), transcript variant 1,
            mRNA.
ACCESSION   NM_002930
VERSION     NM_002930.4
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 1086)
  AUTHORS   Wang,J., Wei,S., Zhang,J. and Wang,H.
  TITLE     Association between RIT2 rs16976358 Polymorphism and Autism
            Spectrum Disorder in Asian Populations: A Meta-analysis
  JOURNAL   Biomed Res Int 2023, 8886927 (2023)
   PUBMED   36820223
  REMARK    GeneRIF: Association between RIT2 rs16976358 Polymorphism and
            Autism Spectrum Disorder in Asian Populations: A Meta-analysis.
            Review article
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1086)
  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   3  (bases 1 to 1086)
  AUTHORS   Liu,T.W., Wu,Y.R., Chen,Y.C., Fung,H.C. and Chen,C.M.
  TITLE     Association of RIT2 and RAB7L1 with Parkinson's disease: a
            case-control study in a Taiwanese cohort and a meta-analysis in
            Asian populations
  JOURNAL   Neurobiol Aging 87, 140 (2020)
   PUBMED   31818509
  REMARK    GeneRIF: Association of RIT2 and RAB7L1 with Parkinson's disease: a
            case-control study in a Taiwanese cohort and a meta-analysis in
            Asian populations.
REFERENCE   4  (bases 1 to 1086)
  AUTHORS   Uenaka,T., Satake,W., Cha,P.C., Hayakawa,H., Baba,K., Jiang,S.,
            Kobayashi,K., Kanagawa,M., Okada,Y., Mochizuki,H. and Toda,T.
  TITLE     In silico drug screening by using genome-wide association study
            data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's
            disease
  JOURNAL   Hum Mol Genet 27 (22), 3974-3985 (2018)
   PUBMED   30137437
  REMARK    GeneRIF: Dabrafenib targets B-Raf, and we confirmed a
            protein-protein interaction between B-Raf and Rit2, which is coded
            by RIT2, a Parkinson's disease (PD) risk gene in Asians and
            Caucasians.
REFERENCE   5  (bases 1 to 1086)
  AUTHORS   Daneshmandpour,Y., Darvish,H. and Emamalizadeh,B.
  TITLE     RIT2: responsible and susceptible gene for neurological and
            psychiatric disorders
  JOURNAL   Mol Genet Genomics 293 (4), 785-792 (2018)
   PUBMED   29860660
  REMARK    GeneRIF: RIT2 gene was recently introduced as a susceptibility gene
            in neurological disorders, a group of major problems in human
            society affecting millions of people worldwide. Several variants,
            including single nucleotide polymorphisms and CNVs, have been
            identified and studied in different populations.
            Review article
REFERENCE   6  (bases 1 to 1086)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   7  (bases 1 to 1086)
  AUTHORS   Reuther,G.W. and Der,C.J.
  TITLE     The Ras branch of small GTPases: Ras family members don't fall far
            from the tree
  JOURNAL   Curr Opin Cell Biol 12 (2), 157-165 (2000)
   PUBMED   10712923
  REMARK    Review article
REFERENCE   8  (bases 1 to 1086)
  AUTHORS   Shao,H., Kadono-Okuda,K., Finlin,B.S. and Andres,D.A.
  TITLE     Biochemical characterization of the Ras-related GTPases Rit and Rin
  JOURNAL   Arch Biochem Biophys 371 (2), 207-219 (1999)
   PUBMED   10545207
REFERENCE   9  (bases 1 to 1086)
  AUTHORS   Wes,P.D., Yu,M. and Montell,C.
  TITLE     RIC, a calmodulin-binding Ras-like GTPase
  JOURNAL   EMBO J 15 (21), 5839-5848 (1996)
   PUBMED   8918462
REFERENCE   10 (bases 1 to 1086)
  AUTHORS   Lee,C.H., Della,N.G., Chew,C.E. and Zack,D.J.
  TITLE     Rin, a neuron-specific and calmodulin-binding small G-protein, and
            Rit define a novel subfamily of ras proteins
  JOURNAL   J Neurosci 16 (21), 6784-6794 (1996)
   PUBMED   8824319
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            Y07565.1.
            
            On Nov 22, 2018 this sequence version replaced NM_002930.3.
            
            Summary: RIN belongs to the RAS (HRAS; MIM 190020) superfamily of
            small GTPases (Shao et al., 1999 [PubMed 10545207]).[supplied by
            OMIM, Mar 2008].
            
            Transcript Variant: This variant (1) 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 :: Y07565.1, SRR5189664.170107.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145544, SAMEA2145743
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000326695.10/ ENSP00000321805.4
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1086              Y07565.1           9-1094
FEATURES             Location/Qualifiers
     source          1..1086
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="18"
                     /map="18q12.3"
     gene            1..1086
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /note="Ras like without CAAX 2"
                     /db_xref="GeneID:6014"
                     /db_xref="HGNC:HGNC:10017"
                     /db_xref="MIM:609592"
     exon            1..269
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /inference="alignment:Splign:2.1.0"
     CDS             167..820
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /EC_number="3.6.5.2"
                     /note="isoform 1 is encoded by transcript variant 1;
                     GTP-binding protein Roc2; GTP-binding protein Rit2;
                     ras-like without CAAX protein 2; ras-like protein
                     expressed in neurons; Ric-like, expressed in neurons"
                     /codon_start=1
                     /product="GTP-binding protein Rit2 isoform 1"
                     /protein_id="NP_002921.1"
                     /db_xref="CCDS:CCDS11921.1"
                     /db_xref="GeneID:6014"
                     /db_xref="HGNC:HGNC:10017"
                     /db_xref="MIM:609592"
                     /translation="MEVENEASCSPGSASGGSREYKVVMLGAGGVGKSAMTMQFISHQ
                     FPDYHDPTIEDAYKTQVRIDNEPAYLDILDTAGQAEFTAMREQYMRGGEGFIICYSVT
                     DRQSFQEAAKFKELIFQVRHTYEIPLVLVGNKIDLEQFRQVSTEEGLSLAQEYNCGFF
                     ETSAALRFCIDDAFHGLVREIRKKESMPSLMEKKLKRKDSLWKKLKGSLKKKRENMT"
     exon            270..326
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /inference="alignment:Splign:2.1.0"
     exon            327..400
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /inference="alignment:Splign:2.1.0"
     exon            401..592
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /inference="alignment:Splign:2.1.0"
     exon            593..1086
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1060..1065
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /note="hexamer: AATAAA"
     polyA_site      1086
                     /gene="RIT2"
                     /gene_synonym="RIBA; RIN; ROC2"
                     /note="major polyA site"
ORIGIN      
        1 atgagacccg ctcgagcgga ggaccagcag ccagcccgac gctgatggtt cttacctcgt
       61 actaaaacct ttgctttgac acagttttag agttgcttaa tattcgagca agcacctgac
      121 acgggtgact ttctccttct ttttttcctc cggtccctcg ggtaagatgg aggtagaaaa
      181 tgaagccagc tgctccccgg gcagcgcatc aggcgggtcc agagagtaca aggtggtaat
      241 gctgggagca gggggagttg gtaaaagcgc aatgacaatg cagtttatta gtcatcagtt
      301 ccctgattat catgacccta ctatagaaga tgcttataag acccaggtca ggattgacaa
      361 tgagccagct tacttggaca tcttggacac tgctggccag gcagaattca cagccatgcg
      421 ggagcagtac atgcgaggtg gggaaggctt catcatctgc tactccgtca ctgaccgtca
      481 atcatttcag gaggctgcca agtttaaaga gctcattttt caggtccgcc acacctatga
      541 aattcccctg gtgctggtgg gtaacaaaat tgatctggaa cagttccgcc aggtttctac
      601 agaagaaggc ttgagtcttg cccaagaata taattgtggt ttttttgaga cctctgcagc
      661 cctcagattc tgtattgatg atgcttttca tggcttagtg agggaaattc gcaagaagga
      721 gtccatgcca tccttgatgg aaaagaaact gaagagaaaa gacagcctgt ggaagaagct
      781 caaaggttct ttgaagaaga agagagaaaa tatgacatga tatctttgct tttgagttcc
      841 tcacgctctc tgaattttat tagttggaca attccatatg tagcattctg cttcaatatt
      901 atctctctat gtgtctctct ctctttaaat atctgcctgt aggtaaaagc aagctctgca
      961 tatctgtacc tcttgagata gttttgtttt gcctttaaca gttggatgga ttttgtcaat
     1021 cagctggata tgctgtttag tttttacaac atagtactaa ataaaattga cattccaatt
     1081 gcctca
//
