LOCUS       NM_017594               4105 bp    mRNA    linear   PRI 01-AUG-2024
DEFINITION  Homo sapiens DIRAS family GTPase 2 (DIRAS2), mRNA.
ACCESSION   NM_017594
VERSION     NM_017594.5
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 4105)
  AUTHORS   Hillmann,B., Zuberer,A., Obermeyer,L., Erb,M., Scheffler,K.,
            Nieratschker,V. and Ethofer,T.
  TITLE     ADHD patients with DIRAS2 risk allele need more thalamic activation
            during emotional face-voice recognition
  JOURNAL   Psychiatry Res 308, 114355 (2022)
   PUBMED   34990989
  REMARK    GeneRIF: ADHD patients with DIRAS2 risk allele need more thalamic
            activation during emotional face-voice recognition.
REFERENCE   2  (bases 1 to 4105)
  AUTHORS   Ying,K., Wang,C., Liu,S., Kuang,Y., Tao,Q. and Hu,X.
  TITLE     Diverse Ras-related GTPase DIRAS2, downregulated by PSMD2 in a
            proteasome-mediated way, inhibits colorectal cancer proliferation
            by blocking NF-kappaB signaling
  JOURNAL   Int J Biol Sci 18 (3), 1039-1050 (2022)
   PUBMED   35173535
  REMARK    GeneRIF: Diverse Ras-related GTPase DIRAS2, downregulated by PSMD2
            in a proteasome-mediated way, inhibits colorectal cancer
            proliferation by blocking NF-kappaB signaling.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 4105)
  AUTHORS   Rao,H., Li,X., Liu,M., Liu,J., Li,X., Xu,J., Li,L. and Gao,W.Q.
  TITLE     Di-Ras2 promotes renal cell carcinoma formation by activating the
            mitogen-activated protein kinase pathway in the absence of von
            Hippel-Lindau protein
  JOURNAL   Oncogene 39 (19), 3853-3866 (2020)
   PUBMED   32161311
  REMARK    GeneRIF: Di-Ras2 promotes renal cell carcinoma formation by
            activating the mitogen-activated protein kinase pathway in the
            absence of von Hippel-Lindau protein.
REFERENCE   4  (bases 1 to 4105)
  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   5  (bases 1 to 4105)
  AUTHORS   Grunewald,L., Becker,N., Camphausen,A., O'Leary,A., Lesch,K.P.,
            Freudenberg,F. and Reif,A.
  TITLE     Expression of the ADHD candidate gene Diras2 in the brain
  JOURNAL   J Neural Transm (Vienna) 125 (6), 913-923 (2018)
   PUBMED   29488099
  REMARK    GeneRIF: Our findings support the idea of DIRAS2 as a candidate
            gene for attention-deficit/hyperactivity disorder
REFERENCE   6  (bases 1 to 4105)
  AUTHORS   Reif,A., Nguyen,T.T., Weissflog,L., Jacob,C.P., Romanos,M.,
            Renner,T.J., Buttenschon,H.N., Kittel-Schneider,S., Gessner,A.,
            Weber,H., Neuner,M., Gross-Lesch,S., Zamzow,K., Kreiker,S.,
            Walitza,S., Meyer,J., Freitag,C.M., Bosch,R., Casas,M., Gomez,N.,
            Ribases,M., Bayes,M., Buitelaar,J.K., Kiemeney,L.A., Kooij,J.J.,
            Kan,C.C., Hoogman,M., Johansson,S., Jacobsen,K.K., Knappskog,P.M.,
            Fasmer,O.B., Asherson,P., Warnke,A., Grabe,H.J., Mahler,J.,
            Teumer,A., Volzke,H., Mors,O.N., Schafer,H., Ramos-Quiroga,J.A.,
            Cormand,B., Haavik,J., Franke,B. and Lesch,K.P.
  TITLE     DIRAS2 is associated with adult ADHD, related traits, and co-morbid
            disorders
  JOURNAL   Neuropsychopharmacology 36 (11), 2318-2327 (2011)
   PUBMED   21750579
  REMARK    GeneRIF: Four single nucleotide polymorphisms (SNPs) and two
            haplotype blocks in DIRAS2 show evidence of association with
            attention deficit/hyperactivity disorder (ADHD) in adults.
            Erratum:[Neuropsychopharmacology. 2012 Mar;37(4):1076]
REFERENCE   7  (bases 1 to 4105)
  AUTHORS   Melzer,D., Perry,J.R., Hernandez,D., Corsi,A.M., Stevens,K.,
            Rafferty,I., Lauretani,F., Murray,A., Gibbs,J.R., Paolisso,G.,
            Rafiq,S., Simon-Sanchez,J., Lango,H., Scholz,S., Weedon,M.N.,
            Arepalli,S., Rice,N., Washecka,N., Hurst,A., Britton,A., Henley,W.,
            van de Leemput,J., Li,R., Newman,A.B., Tranah,G., Harris,T.,
            Panicker,V., Dayan,C., Bennett,A., McCarthy,M.I., Ruokonen,A.,
            Jarvelin,M.R., Guralnik,J., Bandinelli,S., Frayling,T.M.,
            Singleton,A. and Ferrucci,L.
  TITLE     A genome-wide association study identifies protein quantitative
            trait loci (pQTLs)
  JOURNAL   PLoS Genet 4 (5), e1000072 (2008)
   PUBMED   18464913
  REMARK    Publication Status: Online-Only
REFERENCE   8  (bases 1 to 4105)
  AUTHORS   Seshadri,S., DeStefano,A.L., Au,R., Massaro,J.M., Beiser,A.S.,
            Kelly-Hayes,M., Kase,C.S., D'Agostino,R.B. Sr., Decarli,C.,
            Atwood,L.D. and Wolf,P.A.
  TITLE     Genetic correlates of brain aging on MRI and cognitive test
            measures: a genome-wide association and linkage analysis in the
            Framingham Study
  JOURNAL   BMC Med Genet 8 Suppl 1 (Suppl 1), S15 (2007)
   PUBMED   17903297
  REMARK    Publication Status: Online-Only
REFERENCE   9  (bases 1 to 4105)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
REFERENCE   10 (bases 1 to 4105)
  AUTHORS   Kontani,K., Tada,M., Ogawa,T., Okai,T., Saito,K., Araki,Y. and
            Katada,T.
  TITLE     Di-Ras, a distinct subgroup of ras family GTPases with unique
            biochemical properties
  JOURNAL   J Biol Chem 277 (43), 41070-41078 (2002)
   PUBMED   12194967
COMMENT     VALIDATED REFSEQ: This record has undergone validation or
            preliminary review. The reference sequence was derived from
            AK122986.1, BP360709.1, CN365099.1 and AK124628.1.
            
            On Nov 23, 2018 this sequence version replaced NM_017594.4.
            
            Summary: DIRAS2 belongs to a distinct branch of the functionally
            diverse Ras (see HRAS; MIM 190020) superfamily of monomeric
            GTPases.[supplied by OMIM, Apr 2004].
            
            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 :: SRR1803617.66327.1,
                                           SRR1660805.124933.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000375765.5/ ENSP00000364919.3
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1628              AK122986.1         3-1630
            1629-2201           BP360709.1         9-581
            2202-2595           CN365099.1         243-636
            2596-4105           AK124628.1         2542-4051
FEATURES             Location/Qualifiers
     source          1..4105
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q22.2"
     gene            1..4105
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /note="DIRAS family GTPase 2"
                     /db_xref="GeneID:54769"
                     /db_xref="HGNC:HGNC:19323"
                     /db_xref="MIM:607863"
     exon            1..73
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /inference="alignment:Splign:2.1.0"
     exon            74..4105
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /inference="alignment:Splign:2.1.0"
     CDS             110..709
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /note="distinct subgroup of the Ras family member 2; DIRAS
                     family, GTP-binding RAS-like 2"
                     /codon_start=1
                     /product="GTP-binding protein Di-Ras2"
                     /protein_id="NP_060064.2"
                     /db_xref="CCDS:CCDS6687.1"
                     /db_xref="GeneID:54769"
                     /db_xref="HGNC:HGNC:19323"
                     /db_xref="MIM:607863"
                     /translation="MPEQSNDYRVAVFGAGGVGKSSLVLRFVKGTFRESYIPTVEDTY
                     RQVISCDKSICTLQITDTTGSHQFPAMQRLSISKGHAFILVYSITSRQSLEELKPIYE
                     QICEIKGDVESIPIMLVGNKCDESPSREVQSSEAEALARTWKCAFMETSAKLNHNVKE
                     LFQELLNLEKRRTVSLQIDGKKSKQQKRKEKLKGKCVIM"
     regulatory      4080..4085
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /note="hexamer: AATAAA"
     polyA_site      4105
                     /gene="DIRAS2"
                     /gene_synonym="Di-Ras2"
                     /note="major polyA site"
ORIGIN      
        1 acaccctgcg ctgccctgtc ctgcgcgagt ggagctctga agaagctctg agcggagttg
       61 tgttcttccc caggtgcgtc ctggctgaga gttggagctc tccagcaaca tgcctgagca
      121 gagtaacgat taccgggtgg ccgtgtttgg ggctggcggt gttggcaaga gctccctggt
      181 gttgaggttt gtgaaaggca cattccggga gagctacatc ccgacggtgg aagacaccta
      241 ccggcaagtg atcagctgtg acaagagcat atgcacattg cagatcaccg acacgacggg
      301 gagccaccag ttcccggcca tgcagcggct gtccatctcc aaagggcacg ccttcatcct
      361 ggtgtactcc attaccagcc gacagtcctt ggaggagctc aagcccatct acgaacaaat
      421 ctgcgagatc aaaggggacg tggagagcat ccccatcatg ctggtgggga acaagtgtga
      481 tgagagcccc agccgcgagg tgcagagcag cgaggcggag gccttggccc gcacatggaa
      541 gtgtgccttc atggagacct cagccaagct caaccataac gtgaaggagc ttttccagga
      601 gctgctcaac ctggagaagc gcaggaccgt gagtctccag atcgacggga aaaagagcaa
      661 gcagcagaaa aggaaagaga agctcaaagg caagtgcgtg atcatgtgaa ggcccttcct
      721 gcgggaggag cagctgtgtg tccccggcac ctcactcccc caaaatgaca cccaccgtcg
      781 tcagggtagc atgtataatg cccacgtgtt aaacattgca tttaatcgag atgcgtccta
      841 ttgtccttaa gagggcgttt cacaccacca acagtaagcc acccactctg gagtcacaga
      901 atctgccagg cggttcaagt gaaaaccaac acactcagca tccctgggaa ctgagaggtg
      961 ccagcaattg ctgaaggtgg cgatgaacac ccgaaggtgg gagggaggac tggtacccac
     1021 aaagcaacat gtaccgagag gactaaatgt catctacgtg catgtgagag cgtgttaacc
     1081 tagagttacc tgcaccaacc ccagacagaa gccaatcaca tctttggggg aggggagggg
     1141 caggaagagg tgagaagatc agatggtcca aagtggacca cacttggtcc attttacact
     1201 tttttaaagg ggattaaaaa acacagcctc tcccccaaag ggtgtccgtt cttaattccc
     1261 acctggcctg ttaggagcct tgctaccctg aggggatgtg ttcaccttac ctagacctag
     1321 ttaggaagta tcattttaag ctattagagt atttatcttc atgtgcaggg ataagtgcac
     1381 taacagtgtg ctgctctgtc ggaagttctt cagtttttaa gtgaggatat cgtgacagta
     1441 ttaaaacatc gcaataatgt tcctgtgtgt tatacatcga gggttttaga aatgtgattt
     1501 tcttcttttg acctgtgagg agtataactt ctttcagccc tcagatttta aatacaagca
     1561 aataaactca ctatttttag acgttttttt cctccaaggt ggttttcttc tcttaaataa
     1621 ctcgatctgt acccagctgg gtagcagcca gcaaaggcca tcagacaacc agaagcacat
     1681 ccatttttgt agtgtcacaa acatgtatat gccacacttt gcaccttaat gaaatacttt
     1741 gaaacagaag ttattcactg tgtttttgat gatctatctg tattggaaat atgttcctgg
     1801 aaaatgcatt taaataatag taaattctct tgcatgttcc attatacgtg tcttctaaga
     1861 gctgttcaat acagtattca ctctagaaac aattatcttt ttctcttaat gattttgtgt
     1921 gcatctttaa tctttcaagc caaattacag ctatttcagg tttcctgtgt tagcttgggg
     1981 ataggatggt ggctggagac aggcaggctt ctctgccctg ggaagagccc actcagctta
     2041 attgctctgc catcgtagag cctggttgga cttggcttcc tgaaaactcc cactgatagt
     2101 gcctgttaga tctcctgttt gtttcagttg gcagaacatt tactggcccc aactgtggca
     2161 tcatcctctc agcagtcttc ctgtcacccg cctggcaggc agaaggagct gcagtcccac
     2221 gtgggcctgc ctgggggggt gggggctgca tggctgttgg gtggcagtgt cagcacaggg
     2281 agggcttaag ttggggatgt ttgaccaggc cacctcctgc aactgctgtt tctcctgtcc
     2341 ctcctatgca gggcttgcag cagcagcagt gtggccatct ccatccccca aagcacactt
     2401 gctctctcaa tatgtcctag ttttcttcag ccttttctgg ttcagttccc ttgtcctgat
     2461 ctcatcctct ctggtctccc aataactcac ccttgggatg tgtttagagc gtgggaggtg
     2521 cctttgagaa ctgcttgact ccatgatctc ctagaacaaa accgccctga ctttacaggg
     2581 ggaacactca tgctgagctg agaaagcaga gaagtggcgt gggagccagc tgggggtgaa
     2641 gagcatttgg gccagtcccg tggccccctt cagattcctc aagcaggatt gttctgttct
     2701 aaaaagctgt tgcacagcat tcgcaatgag atctttagtt ggcggatttt ctggaacatt
     2761 tgtttttcaa cttgtcccga catttttttt ctgtttctat tctgagagag agatgatcaa
     2821 gttttaattt gggtataggt taaatggaag aagaaacaga acttcatggc caaagtagac
     2881 ctatagattt tgattgggtt ctttgttaac agtagaatgc gatctttgcc actgactgta
     2941 gtattaataa ggttttaatg tgagatattc ctgcaaacca tcccatttct actgattgta
     3001 agtcagaatt tcttttatcc ctttcaaatc agtttctaca tgtttaagtg ttcagggctt
     3061 catcagcatg agaagtttgt aattactgaa agtctgattt cattcaggac acattttttc
     3121 cttcatattt tttctgtgaa tttataggct aggaaggcta ttgaagcctc aattatgggt
     3181 cttcattttg agatcgtttt ctatgagctg aactgaggat atcaatggtt atctcaaaat
     3241 cgtcttttag gagatcccca attgactcag agtttgagga gttagtatca cagaattaga
     3301 tttttttaaa gcatttgtac gtttccattc ccaaatatgt agctgtggtt cttgaaaaca
     3361 catcctacat tgcatatggg catagcagtt tttgacccag gcagaataag ttaatattta
     3421 attaaatatt gctttgaaga tggcgctctg ggcatgagca tggggctcca tgacttccct
     3481 tctatcccca tgagcccctc ctccatccag cgacaagcca tgggcatgca tacaatgcag
     3541 caagaccaac acaagagcaa tattgaattg ttcattctat ctaaaattac atgtatataa
     3601 aatatataat ttatcttcct gcatttttga agtataaagt cataaattgt acatatctgt
     3661 aagctagtat atttgtttca ctgtttgtaa tatttaagaa atgctcattc tttgtagaac
     3721 aaaaatgtat taaatatttt aaaaattgct ctgtgatact taattttttt ccccaaaatt
     3781 tgtaatgtgt tgcttctaca taagttctct ggaaatatct acaactaata ggacacatgt
     3841 aaatccttga agacacatcc tggaattcat accccacaag gacagtgtgt atacaaagta
     3901 tttgcagagc atgactttta tatgtgtggg atatcaatgt gtatatttat atttaaagtg
     3961 tatttattgt tacaagtcta ttctctatta tattttattt actctgcggt tataaaaatc
     4021 acccttgcat acaagtttct agttgccagt gatgttctgg aaataatggg agatattaca
     4081 ataaagctac agttatgaca ccctg
//
