LOCUS       NM_001369032            5419 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens Cdc42 guanine nucleotide exchange factor 9 (ARHGEF9),
            transcript variant 14, mRNA.
ACCESSION   NM_001369032
VERSION     NM_001369032.1
KEYWORDS    RefSeq.
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 5419)
  AUTHORS   Ma,X., Yan,W., Xu,P., Ma,L., Zan,Y., Huang,L., Wang,G., Liu,L. and
            Hui,W.
  TITLE     LncRNA-p21 suppresses cell proliferation and induces apoptosis in
            gastric cancer by sponging miR-514b-3p and up-regulating ARHGEF9
            expression
  JOURNAL   Biol Chem 403 (10), 945-958 (2022)
   PUBMED   35947460
  REMARK    GeneRIF: LncRNA-p21 suppresses cell proliferation and induces
            apoptosis in gastric cancer by sponging miR-514b-3p and
            up-regulating ARHGEF9 expression.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 5419)
  AUTHORS   Yang,H., Liao,H., Gan,S., Xiao,T. and Wu,L.
  TITLE     ARHGEF9 gene variant leads to developmental and epileptic
            encephalopathy: Genotypic phenotype analysis and treatment
            exploration
  JOURNAL   Mol Genet Genomic Med 10 (7), e1967 (2022)
   PUBMED   35638461
  REMARK    GeneRIF: ARHGEF9 gene variant leads to developmental and epileptic
            encephalopathy: Genotypic phenotype analysis and treatment
            exploration.
REFERENCE   3  (bases 1 to 5419)
  AUTHORS   Hines,D.J., Contreras,A., Garcia,B., Barker,J.S., Boren,A.J.,
            Moufawad El Achkar,C., Moss,S.J. and Hines,R.M.
  TITLE     Human ARHGEF9 intellectual disability syndrome is phenocopied by a
            mutation that disrupts collybistin binding to the GABAA receptor
            alpha2 subunit
  JOURNAL   Mol Psychiatry 27 (3), 1729-1741 (2022)
   PUBMED   35169261
  REMARK    GeneRIF: Human ARHGEF9 intellectual disability syndrome is
            phenocopied by a mutation that disrupts collybistin binding to the
            GABAA receptor alpha2 subunit.
REFERENCE   4  (bases 1 to 5419)
  AUTHORS   Ghesh,L., Besnard,T., Nizon,M., Trochu,E., Landeau-Trottier,G.,
            Breheret,F., Thauvin-Robinet,C., Bruel,A.L., Kuentz,P., Coubes,C.,
            Cuisset,L., Mignot,C., Keren,B., Bezieau,S. and Cogne,B.
  TITLE     Loss-of-function variants in ARHGEF9 are associated with an
            X-linked intellectual disability dominant disorder
  JOURNAL   Hum Mutat 42 (5), 498-505 (2021)
   PUBMED   33600053
  REMARK    GeneRIF: Loss-of-function variants in ARHGEF9 are associated with
            an X-linked intellectual disability dominant disorder.
REFERENCE   5  (bases 1 to 5419)
  AUTHORS   Scala,M., Zonneveld-Huijssoon,E., Brienza,M., Mecarelli,O., van der
            Hout,A.H., Zambrelli,E., Turner,K., Zara,F., Peron,A., Vignoli,A.
            and Striano,P.
  TITLE     De novo ARHGEF9 missense variants associated with
            neurodevelopmental disorder in females: expanding the genotypic and
            phenotypic spectrum of ARHGEF9 disease in females
  JOURNAL   Neurogenetics 22 (1), 87-94 (2021)
   PUBMED   32939676
  REMARK    GeneRIF: De novo ARHGEF9 missense variants associated with
            neurodevelopmental disorder in females: expanding the genotypic and
            phenotypic spectrum of ARHGEF9 disease in females.
REFERENCE   6  (bases 1 to 5419)
  AUTHORS   Harrington,A.W., Kim,J.Y. and Yoon,S.O.
  TITLE     Activation of Rac GTPase by p75 is necessary for c-jun N-terminal
            kinase-mediated apoptosis
  JOURNAL   J Neurosci 22 (1), 156-166 (2002)
   PUBMED   11756498
REFERENCE   7  (bases 1 to 5419)
  AUTHORS   Grosskreutz,Y., Hermann,A., Kins,S., Fuhrmann,J.C., Betz,H. and
            Kneussel,M.
  TITLE     Identification of a gephyrin-binding motif in the GDP/GTP exchange
            factor collybistin
  JOURNAL   Biol Chem 382 (10), 1455-1462 (2001)
   PUBMED   11727829
  REMARK    GeneRIF: Here we identified residues critical for interaction with
            gephyrin in the linker region between the SH3 and the DH domains of
            collybistin.
REFERENCE   8  (bases 1 to 5419)
  AUTHORS   Kins,S., Betz,H. and Kirsch,J.
  TITLE     Collybistin, a newly identified brain-specific GEF, induces
            submembrane clustering of gephyrin
  JOURNAL   Nat Neurosci 3 (1), 22-29 (2000)
   PUBMED   10607391
REFERENCE   9  (bases 1 to 5419)
  AUTHORS   Reid,T., Bathoorn,A., Ahmadian,M.R. and Collard,J.G.
  TITLE     Identification and characterization of hPEM-2, a guanine nucleotide
            exchange factor specific for Cdc42
  JOURNAL   J Biol Chem 274 (47), 33587-33593 (1999)
   PUBMED   10559246
REFERENCE   10 (bases 1 to 5419)
  AUTHORS   Balint,B. and Thomas,R.
  TITLE     Hereditary Hyperekplexia Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301437
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL451106.9, AL355142.11 and
            AL391277.16.
            
            Summary: The protein encoded by this gene is a Rho-like GTPase that
            switches between the active (GTP-bound) state and inactive
            (GDP-bound) state to regulate CDC42 and other genes. This
            brain-specific protein also acts as an adaptor protein for the
            recruitment of gephyrin and together these proteins facilitate
            receceptor recruitement in GABAnergic and glycinergic synapses.
            Defects in this gene are the cause of startle disease with epilepsy
            (STHEE), also known as hyperekplexia with epilepsy, as well as
            several other types of cognitive disability. Multiple transcript
            variants encoding different isoforms have been found for this gene.
            [provided by RefSeq, Jul 2017].
            
            Sequence Note: The RefSeq transcript and protein were derived from
            genomic sequence to make the sequence consistent with the reference
            genome assembly. The genomic coordinates used for the transcript
            record were based on 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 :: SRR1803614.277653.1,
                                           SRR1803612.80265.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-816               AL451106.9         14795-15610         c
            817-996             AL355142.11        41494-41673         c
            997-1188            AL355142.11        23220-23411         c
            1189-1368           AL355142.11        14087-14266         c
            1369-1601           AL391277.16        189658-189890       c
            1602-1731           AL391277.16        185356-185485       c
            1732-1863           AL391277.16        177204-177335       c
            1864-2107           AL391277.16        166812-167055       c
            2108-2176           AL391277.16        155298-155366       c
            2177-5419           AL391277.16        146285-149527       c
FEATURES             Location/Qualifiers
     source          1..5419
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq11.1"
     gene            1..5419
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /note="Cdc42 guanine nucleotide exchange factor 9"
                     /db_xref="GeneID:23229"
                     /db_xref="HGNC:HGNC:14561"
                     /db_xref="MIM:300429"
     exon            1..816
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     CDS             808..2358
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /note="isoform 12 is encoded by transcript variant 14;
                     hPEM-2 collybistin; rho guanine nucleotide exchange factor
                     9; PEM-2 homolog; rac/Cdc42 guanine nucleotide exchange
                     factor 9; Cdc42 guanine nucleotide exchange factor (GEF)
                     9"
                     /codon_start=1
                     /product="rho guanine nucleotide exchange factor 9 isoform
                     12"
                     /protein_id="NP_001355961.1"
                     /db_xref="GeneID:23229"
                     /db_xref="HGNC:HGNC:14561"
                     /db_xref="MIM:300429"
                     /translation="MYDLITGDSIVSAEAVWDHVTMANRELAFKAGDVIKVLDASNKD
                     WWWGQIDDEEGWFPASFVRLWVNQEDEVEEGPSDVQNGHLDPNSDCLCLGRPLQNRDQ
                     MRANVINEIMSTERHYIKHLKDICEGYLKQCRKRRDMFSDEQLKVIFGNIEDIYRFQM
                     GFVRDLEKQYNNDDPHLSEIGPCFLEHQDGFWIYSEYCNNHLDACMELSKLMKDSRYQ
                     HFFEACRLLQQMIDIAIDGFLLTPVQKICKYPLQLAELLKYTAQDHSDYRYVAAALAV
                     MRNVTQQINERKRRLENIDKIAQWQASVLDWEGEDILDRSSELIYTGEMAWIYQPYGR
                     NQQRVFFLFDHQMVLCKKDLIRRDILYYKGRIDMDKYEVVDIEDGRDDDFNVSMKNAF
                     KLHNKETEEIHLFFAKKLEEKIRWLRAFREERKMVQEDEKIGFEISENQKRQAAMTVR
                     KVPKQKGVNSARSVPPSYPPPQDPLNHGQYLVPDGIAQSQVFEFTEPKRSQSPFWQNF
                     SRLTPFKK"
     exon            817..996
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            997..1188
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1189..1368
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1369..1601
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1602..1731
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1732..1863
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            1864..2107
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            2108..2176
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     exon            2177..5419
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      5399..5404
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /note="hexamer: AATAAA"
     polyA_site      5419
                     /gene="ARHGEF9"
                     /gene_synonym="COLLYBISTIN; DEE8; EIEE8; HPEM-2; PEM-2;
                     PEM2"
                     /note="major polyA site"
ORIGIN      
        1 gatggggaga gaagagggat agggccagca aggcagggat cgaacgagtg tctggcagcc
       61 gggagcccag cgaagagagc gagcaagctt aggaaaacga gcgaagtaaa gggagtaggg
      121 gagactgaga ctgaccggta gccaggcagg cggacggacg cacgcccgga cagactgagc
      181 aggcgccgga gaaccactca caggttcccc ccgcctttcc ctttgaaagc taggattttg
      241 cctttcccgt ggcgcccgag agagaatgct ggactctgcc gacttcagcg caagctaaga
      301 tttctcagct agggacaaac gatcagccca atcctgagaa ggggggaacc aagcaccccg
      361 tccccatccc cctcccctcc cccgactaaa ctcgggcgcc aaacccagcc cttctctaac
      421 caccctactt cctcctctcc tttctagcat ggtggctgta tggacagtct gacagaacag
      481 agactgacat ctcccaatct gccggccccc cacctggaac actacagtgt tctgcattgc
      541 accatgaccc tggatgtgca aactgtagtc gtttttgccg tgattgtagt cctcctgctt
      601 gtcaatgtca tactcatgtt tttcctggga acgcgctgaa tggagtccag ccacctgagc
      661 tgtcgcgaac tctcgctttg atttcatccc gagagccacc gagaaaaaaa aaaaatcaca
      721 gacagagaca gggaaagaga gagaaagaac aagctttctt actcaggggg gaaaacgttt
      781 tgagcttcaa catggcctcg ctgtgatatg tatgacctga tcactggaga ttccatcgtt
      841 agtgctgagg cagtatggga tcacgtcacc atggccaacc gggagttggc atttaaagct
      901 ggcgacgtca tcaaagtctt ggatgcttcc aacaaggatt ggtggtgggg ccagatcgac
      961 gatgaggagg gatggtttcc tgccagcttt gtgaggctct gggtgaacca ggaggatgag
     1021 gtggaggagg ggcccagcga tgtgcagaac ggacacctgg accccaattc agactgcctc
     1081 tgtctggggc ggccactaca gaaccgggac cagatgcggg ccaatgtcat caatgagata
     1141 atgagcactg agcgtcacta catcaagcac ctcaaggata tttgtgaggg ctatctgaag
     1201 cagtgccgga agagaaggga catgttcagt gacgagcaac tgaaggtaat ctttgggaac
     1261 attgaagata tctacagatt tcagatgggc tttgtgagag acctggagaa acagtataac
     1321 aatgatgacc cccacctcag cgagatagga ccctgcttcc tagagcacca agatggattc
     1381 tggatatact ctgagtattg taacaaccac ctggatgctt gcatggagct ctccaaactg
     1441 atgaaggaca gccgctacca gcacttcttt gaggcctgtc gcctcttgca gcagatgatt
     1501 gacattgcta tcgatggttt ccttttgact ccagtgcaga agatctgcaa gtatccctta
     1561 cagttggctg agctcctaaa gtatactgcc caagaccaca gtgactacag gtatgtggca
     1621 gctgctttgg ctgtcatgag aaatgtgact cagcagatca acgaacgcaa gcgacgttta
     1681 gagaatattg acaagattgc tcagtggcag gcttctgtcc tagactggga gggcgaggac
     1741 atcctagaca ggagctcgga gctgatctac actggggaga tggcctggat ctaccagccc
     1801 tacggccgca accagcagcg ggtcttcttc ctgtttgacc accagatggt cctctgcaag
     1861 aaggacctaa tccggagaga catcctgtac tacaaaggcc gcattgacat ggataaatat
     1921 gaggtagttg acattgagga tggcagagat gatgacttca atgtcagcat gaagaatgcc
     1981 tttaagcttc acaacaagga gactgaggag atacatctgt tctttgccaa gaagctggag
     2041 gaaaaaatac gctggctcag ggctttcaga gaagagagga aaatggtaca ggaagatgaa
     2101 aaaattggct ttgaaatttc tgaaaaccag aagaggcagg ctgcaatgac tgtgagaaaa
     2161 gtccctaagc aaaaaggtgt caactctgcc cgctcagttc ctccttccta cccaccaccg
     2221 caggacccgt taaaccacgg ccagtacctg gtccccgacg gcatcgctca gtcgcaggtc
     2281 tttgagttca ccgaacccaa gcgcagccag tcaccattct ggcaaaactt cagcaggtta
     2341 acccccttca aaaaatgata cctacaggga ggcagataat tttaaaataa agtaaataaa
     2401 attatattta tagatggacc ttttttcgga gaagcactgt tgaaatttat acacacacac
     2461 acacacagag acccttgagt acacatacac acacacacac acagacacac acacacacac
     2521 acacacacac acacacacag agagataagg aacaaaagtg ttttctgttg ttttggggaa
     2581 gtgaaatatg tggttggtag gaagaggtac caatgacttc caaacatgtg attccgtctt
     2641 aaaagttttc catttttacc ctgtccccct tccctttgct ttcagaagtt gacatttcta
     2701 ttcattgctt ttcttgttaa gataatctct ttactcccct gtgagtgatt cactgccttg
     2761 tcattattac gatagatgtg tttgtattgt tttttttctg atgatactga tgttgatgaa
     2821 tttttaattt tatttgatgt ggtagagttg ggaggtttca gggttttttc ccctctttta
     2881 ctttccattg aggaagggaa tgagctcctt tctcctctcc ttcagccaat cattatcaaa
     2941 tgttccttca gccctgcagt tgccccaaat aacctttttt cagcatcctc tgtcctcagt
     3001 catgccagtc tggacatgct ctgttgtgcc ctgtgacaaa actgctcagt attcctattg
     3061 cttttactgt gttttaggta ctgtgaaggg atcaaaaaac caaacagaag caagggagta
     3121 tcagactatg atgatgctgg agtggacttc tgttcaggga acattttgca ttcaggctgt
     3181 ttcttctatc actggggttt cccatgttgc agcacttctg ggtcgttgca attttgcatc
     3241 taggagttag tttgatcgag ttattctctt ttttcaagtc acttttgtta taggtctccc
     3301 cctaggcctg tctctccctt agcccaaaag atctgaactg gaagcagagg ttgagattct
     3361 gcctcccagg agagggattt acctgccccc tagtaccaga taggtttagg gcagtgatct
     3421 ctacagcaat cagttcagtg tcctggttgt ccctgctccc atttacagat gtttgggcag
     3481 cattgataga agtatggagg ggttcaagac agagcccacc tgatcaagat catcagctac
     3541 cttcaaatta ttgacctgga cagggtccaa gtctgatagt aaccttttac aagaaagaac
     3601 agggatggga atggaaagag atagccttga tccacagtat tgtacctgca ttttctacca
     3661 ccctaaaatt gtgtgagact tctcccattg ttaacagatt gcatggacaa tcttccctgg
     3721 cttctttctt tccctctctc tttcttcttt ctcctgccat cctagcacag gaggattttt
     3781 ggtattgata tagttaaagc tgttctggca ctcaaagaag gccgtgtttc caacatcctc
     3841 tcatcccagg acatttgggg caagtgagtt aggggcccag gggcaatttt ccctctgaat
     3901 aacgtgtctg aggcagggat gctaccctca ggctcgcttt tggccagctt tttgcttggg
     3961 aaaatctaac ttctttcaca aggaggcagg cttcctatgg atgttggagt acctgttttt
     4021 cctccacaca tagccctttt catggataga ccttgaacaa caaaaagggt ataagggaat
     4081 aaggatgaac tctgctgtga agagcaagcc actgtagtga ggaatgtgga gactgggagt
     4141 ctgtcctaaa ccccatggga gaagacttca tcatgacagg acttcagctt accaagcagc
     4201 agccatagct gtgtggaggc ttcagcatag ctagcatgtt tactgctcta tgcctcctga
     4261 tccagaccag gcattgccca gcctgggaat cttttctttg tgggaatcaa attacaagct
     4321 atttaagttt atattccatc acaaccaagt cagacttgta ttataagtca aggatgagcc
     4381 tgatctgggg agagggccgg ggctcgggac tggccaccac tgttcagcac atgacctaac
     4441 tacgtaagcc tctttggcaa gggtcctggt gcccagcacc caggctaaaa tatcctgtct
     4501 ggcagagtgt tttggtagct atgcaggcct cccttcagtg tacctctttt tccaacttct
     4561 cactcctcct tactaggctt ggccttgaca tgcttcttcg agggttggca gcacaccggg
     4621 aggggatgct tggacaagtt tctgggccta catttcttga ctaggccctc tcatttcctc
     4681 cctccttggg gcttctgccc agggctccag gatcagggat attacttctc aacccgcact
     4741 tctcctctac tgaacccact ggcatcacct gatgccacta atttgtgaac aacaagaaat
     4801 catttcccca ttggttggag tattccctca gcctatagca tcaaagcaga ccagtggcca
     4861 acagccccaa ggggagccca attaaatacc tgggttcagt atcctaacct gttatgtcct
     4921 gacagcaatg gtaaccccag taattctgta atgttgtaat ttccgcatgg ccctgagctc
     4981 ccttttcctc aactcagtga ggccaggatt tgctctccaa aaggctttgc tagtgtgttc
     5041 aatgggacct gctgtgggga gtcctaagac agacatctaa ttattctctc tttttccccc
     5101 cctctctatg tgtatatttc taatggatct ataagaacag caacaagaga gttctaacaa
     5161 ttctagtgtg aagccaaata gtgatctttt agtgctttgg ggatggggtg ggctggggtg
     5221 gatggatggg caacagtgac tttgattacc cttgctgctc tgcatttgcc agtttattct
     5281 tttgtttctt ttatctgact gactctgtca aacaagtgtc aaagttgtgt gttaaaaaat
     5341 gtttaacaaa aaaaatgttg taatgacaca aagccttatg aaaatattta tggagttcaa
     5401 taaaagaagt aaaaagaca
//
