LOCUS       NM_001666               3254 bp    mRNA    linear   PRI 17-SEP-2024
DEFINITION  Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript
            variant 2, mRNA.
ACCESSION   NM_001666
VERSION     NM_001666.5
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 3254)
  AUTHORS   Hu,Y.Y., Song,W., Liu,Z.G., Ye,X.G., Zhang,H.W., Li,X., Luo,J.X.,
            Wang,P.Y., Wang,J., Lin,X.F., Zhu,H.L., Liao,W.P., Li,B. and
            Chen,X.Q.
  TITLE     ARHGAP4 variants are associated with X-linked early-onset temporal
            lobe epilepsy
  JOURNAL   World J Pediatr 20 (8), 859-867 (2024)
   PUBMED   39060771
  REMARK    GeneRIF: ARHGAP4 variants are associated with X-linked early-onset
            temporal lobe epilepsy.
REFERENCE   2  (bases 1 to 3254)
  AUTHORS   Xiao,X., Lv,X., Lin,T., Li,J., Wang,R., Tian,S., Liu,X., Liu,S.,
            Jiang,H., Yue,D. and Wang,Y.
  TITLE     Rho GTPase-activating protein 4 is upregulated in Kidney Renal
            Clear Cell Carcinoma and associated with poor prognosis and immune
            infiltration
  JOURNAL   Cancer Biomark 40 (2), 205-223 (2024)
   PUBMED   38905034
  REMARK    GeneRIF: Rho GTPase-activating protein 4 is upregulated in Kidney
            Renal Clear Cell Carcinoma and associated with poor prognosis and
            immune infiltration.
REFERENCE   3  (bases 1 to 3254)
  AUTHORS   Qi,Y., Hu,M., Han,C., Wang,J., Chen,F., Guo,H., She,Y., Zhang,M.,
            Zhang,J., Zhao,Z., Xie,H., Wang,S., Chen,M., Wang,J. and Zeng,D.
  TITLE     ARHGAP4 promotes leukemogenesis in acute myeloid leukemia by
            inhibiting DRAM1 signaling
  JOURNAL   Oncogene 42 (34), 2547-2557 (2023)
   PUBMED   37443303
  REMARK    GeneRIF: ARHGAP4 promotes leukemogenesis in acute myeloid leukemia
            by inhibiting DRAM1 signaling.
REFERENCE   4  (bases 1 to 3254)
  AUTHORS   Sera,T., Sakuma,T., Maruo,K., Tsujio,G., Yamamoto,Y., Sugimoto,A.,
            Kushiyama,S., Togano,S., Kuroda,K., Kasashima,H., Ohira,M. and
            Maeda,K.
  TITLE     Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the Development
            of Scirrhous-type Gastric Cancer
  JOURNAL   Anticancer Res 42 (11), 5195-5203 (2022)
   PUBMED   36288877
  REMARK    GeneRIF: Candidate Oncogenes, ARHGAP4, NOS3, and OR51B5, for the
            Development of Scirrhous-type Gastric Cancer.
REFERENCE   5  (bases 1 to 3254)
  AUTHORS   Kang,N., Matsui,T.S., Liu,S. and Deguchi,S.
  TITLE     ARHGAP4-SEPT2-SEPT9 complex enables both up- and down-modulation of
            integrin-mediated focal adhesions, cell migration, and invasion
  JOURNAL   Mol Biol Cell 32 (21), ar28 (2021)
   PUBMED   34524873
  REMARK    GeneRIF: ARHGAP4-SEPT2-SEPT9 complex enables both up- and
            down-modulation of integrin-mediated focal adhesions, cell
            migration, and invasion.
REFERENCE   6  (bases 1 to 3254)
  AUTHORS   Demura,M., Takeda,Y., Yoneda,T., Furukawa,K., Usukura,M., Itoh,Y.
            and Mabuchi,H.
  TITLE     Two novel types of contiguous gene deletion of the AVPR2 and
            ARHGAP4 genes in unrelated Japanese kindreds with nephrogenic
            diabetes insipidus
  JOURNAL   Hum Mutat 19 (1), 23-29 (2002)
   PUBMED   11754100
  REMARK    GeneRIF: A novel type of contiguous gene deletion of ARHGAP4 has
            been identified in unrelated Japanese kindreds with nephrogenic
            diabetes insipidus.
REFERENCE   7  (bases 1 to 3254)
  AUTHORS   Simpson,J.C., Wellenreuther,R., Poustka,A., Pepperkok,R. and
            Wiemann,S.
  TITLE     Systematic subcellular localization of novel proteins identified by
            large-scale cDNA sequencing
  JOURNAL   EMBO Rep 1 (3), 287-292 (2000)
   PUBMED   11256614
REFERENCE   8  (bases 1 to 3254)
  AUTHORS   Zuber,J., Tchernitsa,O.I., Hinzmann,B., Schmitz,A.C., Grips,M.,
            Hellriegel,M., Sers,C., Rosenthal,A. and Schafer,R.
  TITLE     A genome-wide survey of RAS transformation targets
  JOURNAL   Nat Genet 24 (2), 144-152 (2000)
   PUBMED   10655059
REFERENCE   9  (bases 1 to 3254)
  AUTHORS   Tribioli,C., Droetto,S., Bione,S., Cesareni,G., Torrisi,M.R.,
            Lotti,L.V., Lanfrancone,L., Toniolo,D. and Pelicci,P.
  TITLE     An X chromosome-linked gene encoding a protein with characteristics
            of a rhoGAP predominantly expressed in hematopoietic cells
  JOURNAL   Proc Natl Acad Sci U S A 93 (2), 695-699 (1996)
   PUBMED   8570618
REFERENCE   10 (bases 1 to 3254)
  AUTHORS   Tribioli,C., Mancini,M., Plassart,E., Bione,S., Rivella,S.,
            Sala,C., Torri,G. and Toniolo,D.
  TITLE     Isolation of new genes in distal Xq28: transcriptional map and
            identification of a human homologue of the ARD1 N-acetyl
            transferase of Saccharomyces cerevisiae
  JOURNAL   Hum Mol Genet 3 (7), 1061-1067 (1994)
   PUBMED   7981673
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from U52112.2, BC052303.1, D50921.1,
            X78817.1 and AI249937.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001666.4.
            
            Summary: This gene encodes a member of the rhoGAP family of
            proteins which play a role in the regulation of small GTP-binding
            proteins belonging to the RAS superfamily. The protein encoded by
            the orthologous gene in rat is localized to the Golgi complex and
            can redistribute to microtubules. The rat protein stimulates the
            activity of some Rho GTPases in vitro. Genomic deletions of this
            gene and a neighboring gene have been found in patients with
            nephrogenic diabetes insipidus. Multiple transcript variants
            encoding different isoforms have been found for this gene.
            [provided by RefSeq, Sep 2009].
            
            Transcript Variant: This variant (2) lacks an alternate in-frame
            exon in the central coding region, compared to variant 1. The
            resulting isoform (2) lacks an alternate segment, compared to
            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 :: D50921.1, X78817.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000350060.10/ ENSP00000203786.8
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-4                 U52112.2           79198-79201         c
            5-73                BC052303.1         1-69
            74-1777             D50921.1           1-1704
            1778-1887           X78817.1           1758-1867
            1888-3253           BC052303.1         2004-3369
            3254-3254           AI249937.1         36-36               c
FEATURES             Location/Qualifiers
     source          1..3254
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="X"
                     /map="Xq28"
     gene            1..3254
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /note="Rho GTPase activating protein 4"
                     /db_xref="GeneID:393"
                     /db_xref="HGNC:HGNC:674"
                     /db_xref="MIM:300023"
     exon            1..129
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     CDS             63..2903
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /note="isoform 2 is encoded by transcript variant 2;
                     Rho-GAP hematopoietic protein C1; rho GTPase-activating
                     protein 4; rho-type GTPase-activating protein 4"
                     /codon_start=1
                     /product="rho GTPase-activating protein 4 isoform 2"
                     /protein_id="NP_001657.3"
                     /db_xref="CCDS:CCDS14736.1"
                     /db_xref="GeneID:393"
                     /db_xref="HGNC:HGNC:674"
                     /db_xref="MIM:300023"
                     /translation="MAAHGKLRRERGLQAEYETQVKEMRWQLSEQLRCLELQGELRRE
                     LLQELAEFMRRRAEVELEYSRGLEKLAERFSSRGGRLGSSREHQSFRKEPSLLSPLHC
                     WAVLLQHTRQQSRESAALSEVLAGPLAQRLSHIAEDVGRLVKKSRDLEQQLQDELLEV
                     VSELQTAKKTYQAYHMESVNAEAKLREAERQEEKRAGRSVPTTTAGATEAGPLRKSSL
                     KKGGRLVEKRQAKFMEHKLKCTKARNEYLLSLASVNAAVSNYYLHDVLDLMDCCDTGF
                     HLALGQVLRSYTAAESRTQASQVQGLGSLEEAVEALDPPGDKAKVLEVHATVFCPPLR
                     FDYHPHDGDEVAEICVEMELRDEILPRAQNIQSRLDRQTIETEEVNKTLKATLQALLE
                     VVASDDGDVLDSFQTSPSTESLKSTSSDPGSRQAGRRRGQQQETETFYLTKLQEYLSG
                     RSILAKLQAKHEKLQEALQRGDKEEQEVSWTQYTQRKFQKSRQPRPSSQYNQRLFGGD
                     MEKFIQSSGQPVPLVVESCIRFINLNGLQHEGIFRVSGAQLRVSEIRDAFERGEDPLV
                     EGCTAHDLDSVAGVLKLYFRSLEPPLFPPDLFGELLASSELEATAERVEHVSRLLWRL
                     PAPVLVVLRYLFTFLNHLAQYSDENMMDPYNLAVCFGPTLLPVPAGQDPVALQGRVNQ
                     LVQTLIVQPDRVFPPLTSLPGPVYEKCMAPPSASCLGDAQLESLGADNEPELEAEMPA
                     QEDDLEGVVEAVACFAYTGRTAQELSFRRGDVLRLHERASSDWWRGEHNGMRGLIPHK
                     YITLPAGTEKQVVGAGLQTAGESGSSPEGLLASELVHRPEPCTSPEAMGPSGHRRRCL
                     VPASPEQHVEVDKAVAQNMDSVFKELLGKTSVRQGLGPASTTSPSPGPRSPKAPPSSR
                     LGRNKGFSRGPGAPASPSASHPQGLDTTPKPH"
     exon            130..334
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            335..497
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            498..560
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            561..743
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            744..872
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            873..1094
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1095..1196
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1197..1388
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1389..1473
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1474..1501
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1502..1604
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1605..1665
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1666..1743
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1744..1878
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1879..1984
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            1985..2218
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            2219..2292
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            2293..2476
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            2477..2569
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            2570..2669
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     exon            2670..3254
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3230..3235
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /note="hexamer: CATAAA"
     polyA_site      3254
                     /gene="ARHGAP4"
                     /gene_synonym="C1; p115; RGC1; RhoGAP4; SrGAP4"
                     /note="major polyA site"
ORIGIN      
        1 gccgggcccg ctcacggccg cgtgggagca gtggggttcg acggcgcggc cgcgaggccg
       61 ccatggccgc tcacgggaag ctgcggcggg agcgggggct gcaggctgag tatgagacgc
      121 aagtcaaaga gatgcgctgg cagctgagcg agcagctgcg ctgcctggag ctgcagggcg
      181 agctgcggcg ggagttgctg caggagctgg cagagttcat gcggcgccgc gctgaggtgg
      241 agctggaata ctcccggggc ctggaaaagc tggccgagcg cttctccagc cgtggaggcc
      301 gcctggggag cagccgggag caccaaagct tccggaagga gccgtccctc ctgtcgccct
      361 tgcactgctg ggcggtgctg ctgcagcaca cgcggcagca gagccgggag agcgcggccc
      421 tgagtgaggt gctggccggg cccctggccc agcgcctgag tcacattgca gaggacgtgg
      481 ggcgcctggt caagaagagc agggatctgg agcagcagct gcaggatgag ctcctggagg
      541 tggtctcaga gctccagacg gccaagaaga cgtaccaggc atatcacatg gagagcgtga
      601 atgccgaggc caagctccgg gaggccgagc ggcaggagga gaagcgggca ggccggagtg
      661 tccccaccac caccgctggt gccactgagg cagggcccct ccgcaagagc tccctcaaga
      721 agggagggag gctggtggag aagcggcagg ccaagttcat ggagcacaaa ctcaagtgca
      781 caaaggcgcg caacgagtac ctgcttagcc tggctagtgt caacgctgct gtcagtaact
      841 actacctgca tgacgtcttg gacctcatgg actgctgtga cacagggttc cacctggccc
      901 tggggcaggt gctccggagc tacacggccg ctgagagccg cacccaagcc tcccaagtgc
      961 agggcctggg cagcctggaa gaagctgtgg aggccctgga tcctccaggg gacaaagcca
     1021 aggttctcga ggtgcatgct accgtcttct gtcccccgct gcgctttgac taccaccccc
     1081 atgatgggga tgaggtggct gagatctgcg ttgaaatgga gctgcgggac gagattctgc
     1141 ccagagccca gaacatccag agccgcctgg accgacagac cattgagaca gaggaggtga
     1201 acaagactct gaaggcgaca ctgcaggccc tgctggaggt ggtggcctcg gatgacgggg
     1261 atgtgcttga ttccttccag accagcccct ccaccgagtc cctcaagtcc accagctcag
     1321 acccaggcag ccggcaggcg ggccggaggc gcggccagca gcaggagacc gaaaccttct
     1381 acctcacgaa gctccaggag tatctgagtg gacggagcat cctcgccaag ctgcaggcca
     1441 agcacgagaa gctgcaggag gcccttcagc gaggtgacaa ggaggagcag gaggtgtctt
     1501 ggacccagta cacacagaga aaattccaga agagccgcca gccccgcccc agctcccagt
     1561 ataaccagag actctttggg ggagacatgg agaagtttat ccagagctca ggccagcctg
     1621 tgcccctggt ggtggagagc tgcattcgct tcatcaacct caatggcctg cagcatgaag
     1681 gcatcttccg ggtatcgggt gcccagctcc gggtctcaga gatccgtgat gccttcgaga
     1741 gaggggagga cccactggtg gagggctgca ctgcccatga cctggactcg gtggccgggg
     1801 tgctgaagct ctacttccgg agcctggagc ccccactctt ccccccagac ctgttcggcg
     1861 agctgctggc ttcttcggag ctggaggcca cagcggagag ggtggagcac gtgagccgcc
     1921 tgctgtggcg gctgcccgcg ccggtgctgg tggttctgcg ctacctcttc accttcctca
     1981 accacctggc ccagtacagc gatgagaaca tgatggaccc ctacaacctg gccgtgtgct
     2041 tcgggcccac gctgctaccg gtgcccgctg ggcaggaccc ggtggcgctg cagggccggg
     2101 tgaaccagct ggtgcagacg ctcatagtgc agcccgatcg ggtcttcccg cccctgacct
     2161 cgctgcctgg ccccgtctac gagaagtgca tggcaccgcc ttccgccagc tgcctggggg
     2221 acgcccagct ggagagcctg ggggcggaca atgagccgga gctggaagcc gagatgcccg
     2281 cacaggagga tgacctggag ggggtcgtgg aggctgtggc ctgctttgcc tacacgggcc
     2341 gcacagccca ggagctgagc ttccggcggg gggacgtact gcggctgcac gagagggcct
     2401 cgagcgactg gtggcggggg gagcacaacg gcatgcgggg cctcatcccc cacaagtata
     2461 tcacgctgcc cgccgggacg gagaagcagg tggtgggcgc agggctgcag actgcagggg
     2521 agtctgggag cagtcccgag ggcctcctgg catcggagct ggtccaccgg ccagagccat
     2581 gcacctcacc tgaggccatg ggaccctctg gacacagacg acgctgcttg gtcccagcct
     2641 ccccagagca acacgtggag gtggataagg ctgtggcaca gaacatggac tctgtgttta
     2701 aggagctctt gggaaagacc tctgtccgcc agggccttgg gccagcatct accacctctc
     2761 ccagtcctgg gccccgaagc ccaaaggccc cgcccagcag ccgcctgggc aggaacaaag
     2821 gcttctcccg gggccctggg gccccagcct caccctcagc ttcccacccc cagggcctag
     2881 acacgacccc caagccacac tgaggtgccg ctgctggaga tgcgtgcccc cggcggctac
     2941 ccgctggacc ggccactctc cccagccccc ttgcttctct ccagccctgt ccagcaagtg
     3001 cagggtgcct gcacttcacc ctgtgcagag aggtgggatg gggccgtgca cacagggatg
     3061 cccgctccac atcctgcctg cccctcagcc ctggcccagg ccccttttgg aggcagctga
     3121 ggaaggatgc tggggaaagc cctcttctgc agctttgtgg aaggctgatc agtggctgct
     3181 gggtggcggg tacccttgct cagatgcctg gcagggctgg gtggcgattc ataaagacct
     3241 cgtgttgatt cccc
//
