LOCUS       NM_002872               1472 bp    mRNA    linear   PRI 20-FEB-2025
DEFINITION  Homo sapiens Rac family small GTPase 2 (RAC2), mRNA.
ACCESSION   NM_002872 NM_014029
VERSION     NM_002872.5
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 1472)
  AUTHORS   Donko,A., Sharapova,S.O., Kabat,J., Ganesan,S., Hauck,F.H.,
            Bergerson,J.R.E., Marois,L., Abbott,J., Moshous,D., Williams,K.W.,
            Campbell,N., Martin,P.L., Lagresle-Peyrou,C., Trojan,T.,
            Kuzmenko,N.B., Deordieva,E.A., Raykina,E.V., Abers,M.S.,
            Abolhassani,H., Barlogis,V., Milla,C., Hall,G., Mousallem,T.,
            Church,J., Kapoor,N., Cros,G., Chapdelaine,H., Franco-Jarava,C.,
            Lopez-Lerma,I., Miano,M., Leiding,J.W., Klein,C., Stasia,M.J.,
            Fischer,A., Hsiao,K.C., Martelius,T., Seppanen,M.R.J.,
            Barmettler,S., Walter,J., Masmas,T.N., Mukhina,A.A., Falcone,E.L.,
            Kracker,S., Shcherbina,A., Holland,S.M., Leto,T.L. and Hsu,A.P.
  TITLE     Clinical and functional spectrum of RAC2-related immunodeficiency
  JOURNAL   Blood 143 (15), 1476-1487 (2024)
   PUBMED   38194689
  REMARK    GeneRIF: Clinical and functional spectrum of RAC2-related
            immunodeficiency.
            Erratum:[Blood. 2024 Sep 5;144(10):1132. doi:
            10.1182/blood.2024025827.. PMID: 39235795]
REFERENCE   2  (bases 1 to 1472)
  AUTHORS   Liu,X., Shi,Y., Liu,R., Song,K. and Chen,L.
  TITLE     Structure of human phagocyte NADPH oxidase in the activated state
  JOURNAL   Nature 627 (8002), 189-195 (2024)
   PUBMED   38355798
REFERENCE   3  (bases 1 to 1472)
  AUTHORS   Ilarraza,R., Chao,D.V., Bodman,J.A.R., Chesley,A., Humble,A.,
            Shaheen,F., Eitzen,G. and Lacy,P.
  TITLE     Rac2 regulates immune complex-mediated granule polarization and
            exocytosis in neutrophils
  JOURNAL   J Leukoc Biol 114 (2), 116-125 (2023)
   PUBMED   37017007
  REMARK    GeneRIF: Rac2 regulates immune complex-mediated granule
            polarization and exocytosis in neutrophils.
REFERENCE   4  (bases 1 to 1472)
  AUTHORS   Ambruso,D.R., Knall,C., Abell,A.N., Panepinto,J., Kurkchubasche,A.,
            Thurman,G., Gonzalez-Aller,C., Hiester,A., deBoer,M., Harbeck,R.J.,
            Oyer,R., Johnson,G.L. and Roos,D.
  TITLE     Human neutrophil immunodeficiency syndrome is associated with an
            inhibitory Rac2 mutation
  JOURNAL   Proc Natl Acad Sci U S A 97 (9), 4654-4659 (2000)
   PUBMED   10758162
REFERENCE   5  (bases 1 to 1472)
  AUTHORS   Courjal,F., Chuchana,P., Theillet,C. and Fort,P.
  TITLE     Structure and chromosomal assignment to 22q12 and 17qter of the
            ras-related Rac2 and Rac3 human genes
  JOURNAL   Genomics 44 (2), 242-246 (1997)
   PUBMED   9299243
REFERENCE   6  (bases 1 to 1472)
  AUTHORS   Mizuno,T., Kaibuchi,K., Ando,S., Musha,T., Hiraoka,K., Takaishi,K.,
            Asada,M., Nunoi,H., Matsuda,I. and Takai,Y.
  TITLE     Regulation of the superoxide-generating NADPH oxidase by a small
            GTP-binding protein and its stimulatory and inhibitory GDP/GTP
            exchange proteins
  JOURNAL   J Biol Chem 267 (15), 10215-10218 (1992)
   PUBMED   1316893
REFERENCE   7  (bases 1 to 1472)
  AUTHORS   Knaus,U.G., Heyworth,P.G., Evans,T., Curnutte,J.T. and Bokoch,G.M.
  TITLE     Regulation of phagocyte oxygen radical production by the
            GTP-binding protein Rac 2
  JOURNAL   Science 254 (5037), 1512-1515 (1991)
   PUBMED   1660188
REFERENCE   8  (bases 1 to 1472)
  AUTHORS   Kinsella,B.T., Erdman,R.A. and Maltese,W.A.
  TITLE     Carboxyl-terminal isoprenylation of ras-related GTP-binding
            proteins encoded by rac1, rac2, and ralA
  JOURNAL   J Biol Chem 266 (15), 9786-9794 (1991)
   PUBMED   1903399
REFERENCE   9  (bases 1 to 1472)
  AUTHORS   Reibel,L., Dorseuil,O., Stancou,R., Bertoglio,J. and Gacon,G.
  TITLE     A hemopoietic specific gene encoding a small GTP binding protein is
            overexpressed during T cell activation
  JOURNAL   Biochem Biophys Res Commun 175 (2), 451-458 (1991)
   PUBMED   1902092
REFERENCE   10 (bases 1 to 1472)
  AUTHORS   Didsbury,J., Weber,R.F., Bokoch,G.M., Evans,T. and Snyderman,R.
  TITLE     rac, a novel ras-related family of proteins that are botulinum
            toxin substrates
  JOURNAL   J Biol Chem 264 (28), 16378-16382 (1989)
   PUBMED   2674130
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI908751.1, BQ934070.1,
            BC001485.2, Z82188.2 and AF077208.1.
            
            On Nov 23, 2018 this sequence version replaced NM_002872.4.
            
            Summary: This gene encodes a member of the Ras superfamily of small
            guanosine triphosphate (GTP)-metabolizing proteins. The encoded
            protein localizes to the plasma membrane, where it regulates
            diverse processes, such as secretion, phagocytosis, and cell
            polarization. Activity of this protein is also involved in the
            generation of reactive oxygen species. Mutations in this gene are
            associated with neutrophil immunodeficiency syndrome. There is a
            pseudogene for this gene on chromosome 6. [provided by RefSeq, Jul
            2013].
            
            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 :: SRR1163657.42286.1,
                                           SRR3476690.25701.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2149876, SAMEA2150385
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000249071.11/ ENSP00000249071.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2                 BI908751.1         31-32
            3-633               BQ934070.1         1-631
            634-1336            BC001485.2         636-1338
            1337-1337           Z82188.2           73836-73836         c
            1338-1472           AF077208.1         591-725
FEATURES             Location/Qualifiers
     source          1..1472
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="22"
                     /map="22q13.1"
     gene            1..1472
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /note="Rac family small GTPase 2"
                     /db_xref="GeneID:5880"
                     /db_xref="HGNC:HGNC:9802"
                     /db_xref="MIM:602049"
     exon            1..156
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..700
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /EC_number="3.6.5.2"
                     /note="small G protein; ras-related C3 botulinum toxin
                     substrate 2 (rho family, small GTP binding protein Rac2);
                     Ras-related C3 botulinum toxin substrate 3 (rho family,
                     small GTP-binding protein Rac2)"
                     /codon_start=1
                     /product="ras-related C3 botulinum toxin substrate 2"
                     /protein_id="NP_002863.1"
                     /db_xref="CCDS:CCDS13945.1"
                     /db_xref="GeneID:5880"
                     /db_xref="HGNC:HGNC:9802"
                     /db_xref="MIM:602049"
                     /translation="MQAIKCVVVGDGAVGKTCLLISYTTNAFPGEYIPTVFDNYSANV
                     MVDSKPVNLGLWDTAGQEDYDRLRPLSYPQTDVFLICFSLVSPASYENVRAKWFPEVR
                     HHCPSTPIILVGTKLDLRDDKDTIEKLKEKKLAPITYPQGLALAKEIDSVKYLECSAL
                     TQRGLKTVFDEAIRAVLCPQPTRQQKRACSLL"
     exon            157..228
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     exon            229..346
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     exon            347..409
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     exon            410..569
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     exon            570..702
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     exon            703..1472
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1454..1459
                     /regulatory_class="polyA_signal_sequence"
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /note="hexamer: AATAAA"
     polyA_site      1472
                     /gene="RAC2"
                     /gene_synonym="EN-7; Gx; HSPC022; IMD73A; IMD73B; IMD73C;
                     p21-Rac2"
                     /note="major polyA site"
ORIGIN      
        1 ctcctgcccc accaccgctg ctcctcagca ggcgcctcac cagcctccac accccttgcg
       61 cccgcagaaa cgcgcctggc cctgagctgt caccaccgac actctccagg ctccggacac
      121 gatgcaggcc atcaagtgtg tggtggtggg agatggggcc gtgggcaaga cctgccttct
      181 catcagctac accaccaacg cctttcccgg agagtacatc cccaccgtgt ttgacaacta
      241 ttcagccaat gtgatggtgg acagcaagcc agtgaacctg gggctgtggg acactgctgg
      301 gcaggaggac tacgaccgtc tccggccgct ctcctatcca cagacggacg tcttcctcat
      361 ctgcttctcc ctcgtcagcc cagcctctta tgagaacgtc cgcgccaagt ggttcccaga
      421 agtgcggcac cactgcccca gcacacccat catcctggtg ggcaccaagc tggacctgcg
      481 ggacgacaag gacaccatcg agaaactgaa ggagaagaag ctggctccca tcacctaccc
      541 gcagggcctg gcactggcca aggagattga ctcggtgaaa tacctggagt gctcagctct
      601 cacccagaga ggcctgaaaa ccgtgttcga cgaggccatc cgggccgtgc tgtgccctca
      661 gcccacgcgg cagcagaagc gcgcctgcag cctcctctag gggttgcacc ccagcgctcc
      721 cacctagatg ggtctgatcc tccaggatcc ccacccaaag cctgatggca ccccggctgg
      781 ccatgctgtc ccctccctgt ggcgtttctt agcagatggc tgcagagctt cgttgatggt
      841 cttttctgta ctggaggcct cctgaggcca ggaacgtgca aatttgcagg tgctgcatcc
      901 caagcccctc atgctcctgc cttcctgagg gccagagggg agccccagga cccattaagc
      961 cacccccgtg ttcctgccgt cagtgccaac tgccgcatgt ggaagcatct acccgttcac
     1021 tccagtccca ccccacgcct gactcccctc tggaaactgc aggccagatg gttgctgcca
     1081 caacttgtgt accttcaggg atggggctct tactccctcc tgaggccagc tgctctaata
     1141 tcgatggtcc tgcttgccag agagttcctc tacccagcaa aaatgagtgt ctcagaagtg
     1201 tgctcctctg gcctcagttc tcctcttttg gaacaacata aaacaaattt aattttctac
     1261 gcctctgggg atatctgctc agccaatgga aaatctgggt tcaaccagcc cctgccattt
     1321 cttaagactt tctgctgcac tcacaggatc ctgagctgca cttacctgtg agagtcttca
     1381 aacttttaaa ccttgccagt caggactttt gctattgcaa atagaaaacc caactcaacc
     1441 tgcttaagca gaaaataaat ttattgattc aa
//
