LOCUS       NM_021226               2729 bp    mRNA    linear   PRI 20-SEP-2024
DEFINITION  Homo sapiens Rho GTPase activating protein 22 (ARHGAP22),
            transcript variant 3, mRNA.
ACCESSION   NM_021226
VERSION     NM_021226.4
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 2729)
  AUTHORS   Mori,M., Saito,K., Sekine,A., Hasebe,R. and Ohta,Y.
  TITLE     Endosomal Localization of RacGAP Protein ARHGAP22 Regulates its GAP
            Activity in Human Melanoma Cells
  JOURNAL   Anticancer Res 42 (12), 5763-5771 (2022)
   PUBMED   36456117
  REMARK    GeneRIF: Endosomal Localization of RacGAP Protein ARHGAP22
            Regulates its GAP Activity in Human Melanoma Cells.
REFERENCE   2  (bases 1 to 2729)
  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 2729)
  AUTHORS   Han,M., Dong,Z., Duan,H., Sun,X., Zhang,T. and Ying,M.
  TITLE     Associations of rs2300782 CAMK4, rs2292239 ERBB3 and rs10491034
            ARHGAP22 with Diabetic Retinopathy Among Chinese Hui Population
  JOURNAL   DNA Cell Biol 39 (3), 398-403 (2020)
   PUBMED   31976761
  REMARK    GeneRIF: rs10491034 of gene ARHGAP22 is associated with diabetic
            retinopathy incidence and severity among Chinese Hui population.
REFERENCE   4  (bases 1 to 2729)
  AUTHORS   Koroknai,V., Szasz,I., Hernandez-Vargas,H., Fernandez-Jimenez,N.,
            Cuenin,C., Herceg,Z., Vizkeleti,L., Adany,R., Ecsedi,S. and
            Balazs,M.
  TITLE     DNA hypermethylation is associated with invasive phenotype of
            malignant melanoma
  JOURNAL   Exp Dermatol 29 (1), 39-50 (2020)
   PUBMED   31602702
  REMARK    GeneRIF: DNA hypermethylation is associated with invasive phenotype
            of malignant melanoma.
REFERENCE   5  (bases 1 to 2729)
  AUTHORS   Li,R., Chen,P., Li,J., Yan,M., Li,J., Li,S. and Zhu,H.
  TITLE     Association of ARHGAP22 gene polymorphisms with the risk of type 2
            diabetic retinopathy
  JOURNAL   J Gene Med 19 (6-7) (2017)
   PUBMED   28544509
  REMARK    GeneRIF: There is a significant association between single
            nucleotide polymorphism in the ARHGAP22 gene and diabetic
            retinopathy risk in a Han Chinese population
REFERENCE   6  (bases 1 to 2729)
  AUTHORS   Valnegri,P., Montrasio,C., Brambilla,D., Ko,J., Passafaro,M. and
            Sala,C.
  TITLE     The X-linked intellectual disability protein IL1RAPL1 regulates
            excitatory synapse formation by binding PTPdelta and RhoGAP2
  JOURNAL   Hum Mol Genet 20 (24), 4797-4809 (2011)
   PUBMED   21926414
  REMARK    GeneRIF: The interaction of the IL1RAPL1 family of proteins with
            PTPdelta and RhoGAP2 reveals a pathophysiological mechanism of
            cognitive impairment associated with a novel type of trans-synaptic
            signaling.
REFERENCE   7  (bases 1 to 2729)
  AUTHORS   Dick,D.M., Aliev,F., Krueger,R.F., Edwards,A., Agrawal,A.,
            Lynskey,M., Lin,P., Schuckit,M., Hesselbrock,V., Nurnberger,J. Jr.,
            Almasy,L., Porjesz,B., Edenberg,H.J., Bucholz,K., Kramer,J.,
            Kuperman,S. and Bierut,L.
  TITLE     Genome-wide association study of conduct disorder symptomatology
  JOURNAL   Mol Psychiatry 16 (8), 800-808 (2011)
   PUBMED   20585324
REFERENCE   8  (bases 1 to 2729)
  AUTHORS   Huang,Y.C., Lin,J.M., Lin,H.J., Chen,C.C., Chen,S.Y., Tsai,C.H. and
            Tsai,F.J.
  TITLE     Genome-wide association study of diabetic retinopathy in a
            Taiwanese population
  JOURNAL   Ophthalmology 118 (4), 642-648 (2011)
   PUBMED   21310492
  REMARK    GeneRIF: We identified a genetic association for susceptibility to
            retinopathy in 5 novel chromosomal regions and PLXDC2 and ARHGAP22,
            the latter 2 of which are genes implicated in endothelial cell
            angiogenesis and increased capillary permeability.
REFERENCE   9  (bases 1 to 2729)
  AUTHORS   Kahle,J.J., Gulbahce,N., Shaw,C.A., Lim,J., Hill,D.E.,
            Barabasi,A.L. and Zoghbi,H.Y.
  TITLE     Comparison of an expanded ataxia interactome with patient medical
            records reveals a relationship between macular degeneration and
            ataxia
  JOURNAL   Hum Mol Genet 20 (3), 510-527 (2011)
   PUBMED   21078624
REFERENCE   10 (bases 1 to 2729)
  AUTHORS   Katoh,M. and Katoh,M.
  TITLE     Identification and characterization of ARHGAP24 and ARHGAP25 genes
            in silico
  JOURNAL   Int J Mol Med 14 (2), 333-338 (2004)
   PUBMED   15254788
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AY324801.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_021226.3.
            
            Summary: This gene encodes a member of the GTPase activating
            protein family which activates a GTPase belonging to the RAS
            superfamily of small GTP-binding proteins. The encoded protein is
            insulin-responsive, is dependent on the kinase Akt and requires the
            Akt-dependent 14-3-3 binding protein which binds sequentially to
            two serine residues. The result of these interactions is regulation
            of cell motility. Multiple transcript variants encoding different
            isoforms have been found for this gene. [provided by RefSeq, Dec
            2011].
            
            Transcript Variant: This variant (3) uses an alternate in-frame
            splice site in the 5' coding region compared to variant 1. The
            resulting protein (isoform 3) is shorter compared with 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 :: AY324801.1, BC047096.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2157437, SAMEA2467144
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000249601.9/ ENSP00000249601.4
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-2729              AY324801.1         21-2749
FEATURES             Location/Qualifiers
     source          1..2729
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q11.22-q11.23"
     gene            1..2729
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /note="Rho GTPase activating protein 22"
                     /db_xref="GeneID:58504"
                     /db_xref="HGNC:HGNC:30320"
                     /db_xref="MIM:610585"
     exon            1..311
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     CDS             278..2374
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /note="isoform 3 is encoded by transcript variant 3; rho
                     GTPase-activating protein 22; rho-type GTPase-activating
                     protein 22"
                     /codon_start=1
                     /product="rho GTPase-activating protein 22 isoform 3"
                     /protein_id="NP_067049.2"
                     /db_xref="CCDS:CCDS7227.1"
                     /db_xref="GeneID:58504"
                     /db_xref="HGNC:HGNC:30320"
                     /db_xref="MIM:610585"
                     /translation="MLSPKIRQARRARSKSLVMGEQSRSPGRMPCPHRLGPVLKAGWL
                     KKQRSIMKNWQQRWFVLRGDQLFYYKDKDEIKPQGFISLQGTQVTELPPGPEDPGKHL
                     FEISPGGAGEREKVPANPEALLLMASSQRDMEDWVQAIRRVIWAPLGGGIFGQRLEET
                     VHHERKYGPRLAPLLVEQCVDFIRERGLTEEGLFRMPGQANLVRDLQDSFDCGEKPLF
                     DSTTDVHTVASLLKLYLRELPEPVVPFARYEDFLSCAQLLTKDEGEGTLELAKQVSNL
                     PQANYNLLRYICKFLDEVQAYSNVNKMSVQNLATVFGPNILRPQVEDPVTIMEGTSLV
                     QHLMTVLIRKHSQLFTAPVPEGPTSPRGGLQCAVGWGSEEVTRDSQGEPGGPGLPAHR
                     TSSLDGAAVAVLSRTAPTGPGSRCSPGKKVQTLPSWKSSFRQPRSLSGSPKGGGSSLE
                     VPIISSGGNWLMNGLSSLRGHRRASSGDRLKDSGSVQRLSTYDNVPAPGLVPGIPSVA
                     SMAWSGASSSESSVGGSLSSCTACRASDSSARSSLHTDWALEPSPLPSSSEDPKSLDL
                     DHSMDEAGAGASNSEPSEPDSPTREHARRSEALQGLVTELRAELCRQRTEYERSVKRI
                     EEGSADLRKRMSRLEEELDQEKKKYIMLEIKLRNSERAREDAERRNQLLQREMEEFFS
                     TLGSLTVGAKGARAPK"
     exon            312..511
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            512..599
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            600..728
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            729..936
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            937..1069
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            1070..1143
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            1144..1265
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            1266..2145
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     exon            2146..2729
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2709..2714
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /note="hexamer: ATTAAA"
     polyA_site      2729
                     /gene="ARHGAP22"
                     /gene_synonym="RhoGAP2; RhoGap22"
                     /note="major polyA site"
ORIGIN      
        1 agtgattgat cagcagtgat tactgaggct ttaatggtcc gcttggatgg gaattaattc
       61 tgggatggat aaataatgca tcgaggttta tgtagtccaa ggcgagccgt ccgtccggag
      121 ccaggagagg tagccgaggg agcctgacgg gtgacgccag cggccacggg gccccgaacg
      181 agcaggacat gaggggcgac taggcgcgag gacgagcaaa agcaagtgga tgacagcatg
      241 aacggccctg cggggctggc cggacggctg caagaacatg ctgagcccaa agatcaggca
      301 ggccaggagg gcccgctcca aaagcctagt gatgggggag cagagccgga gccctgggcg
      361 gatgccgtgc cctcacaggc tgggccccgt gctgaaggcg ggctggctga agaagcagag
      421 gagcatcatg aagaactggc agcagcgctg gtttgtgctg cgtggggatc agcttttcta
      481 ctacaaggac aaagatgaga tcaagcccca gggatttatt tctctacaag ggacacaggt
      541 gactgaactt cctcctggcc ccgaggaccc agggaagcac ctctttgaga tcagcccagg
      601 tggtgccggg gagcgggaga aggtgccggc caaccccgag gcgctcctgc tcatggccag
      661 ctcccagcgt gacatggagg actgggtgca ggccatccgc cgagtcatct gggccccgct
      721 gggcggaggg atctttgggc agcgcctaga ggaaacagtc caccacgagc ggaagtatgg
      781 cccccgcctg gcgcccctgc tggtggagca gtgtgtggac ttcatccggg agcgcgggct
      841 cactgaggag gggctgttcc gcatgccagg ccaggccaac ctggtgaggg acctgcagga
      901 ttccttcgac tgtggggaga agccactgtt tgacagcaca acagacgtgc acacggtggc
      961 ctccctgctg aagctgtacc tgcgggagct ccccgagccc gtggtcccct tcgccaggta
     1021 cgaggacttc ctcagctgcg cccagctgct caccaaggac gagggggagg gcactctgga
     1081 gttggctaaa caagtgagca accttcctca ggcaaattac aacctgctca gatacatctg
     1141 caagtttctg gatgaagttc aggcatactc aaatgtcaac aagatgagtg tccagaatct
     1201 ggcaaccgtt tttggaccta acattctgcg gccacaggta gaggacccag taaccatcat
     1261 ggaaggcact tccctcgtcc agcacctgat gaccgtcctc atccgcaaac acagccagct
     1321 cttcacggca ccggtcccgg aagggcccac ctccccgcgc gggggcctgc aatgcgcagt
     1381 ggggtggggc tccgaggagg tcaccaggga cagccaagga gagcccggcg gccccggcct
     1441 gcccgcgcac aggacctctt ccctggacgg ggcggccgtg gcggtgctct ccagaacagc
     1501 ccccacgggg ccggggagcc ggtgcagccc tgggaagaag gtgcagaccc tgcccagttg
     1561 gaagtcctcc ttccggcagc cgaggtccct atcgggaagc ccgaaggggg gcggctcatc
     1621 cctggaggtg cccatcatct cctccggcgg gaactggctt atgaacgggc tgtcctccct
     1681 gcgcggacac cgccgggcct cgtcgggaga ccggctcaag gactcgggct ccgtgcagag
     1741 actctccacc tacgacaatg tgcccgcgcc gggcctggtc cccggcatac ccagcgtggc
     1801 cagtatggcg tggtccgggg cctcgtccag cgagtcgtcg gtggggggct cactcagcag
     1861 ctgcacggcc tgccgcgcca gcgactcgtc tgcccgcagt tccctgcaca ccgactgggc
     1921 cctggagccc tccccgctcc ccagcagcag cgaggacccc aagtccctgg acctggacca
     1981 cagcatggac gaggcgggcg cgggtgccag caacagcgag cccagcgagc cggacagccc
     2041 cacccgggaa cacgcgcgcc gctccgaggc cttacagggg ctggtcactg agctcagggc
     2101 cgagctgtgc cgccagcgga ctgagtacga gaggagtgtg aaaagaatcg aagaagggag
     2161 tgctgacctg agaaaacgaa tgtcccggtt agaagaagaa ctggaccagg aaaagaaaaa
     2221 atacatcatg ctggaaataa agctgcggaa ctctgaacgg gcgcgggagg atgcggagag
     2281 gaggaaccag ctgttgcaga gggaaatgga ggagtttttt tcgaccctag gaagcttgac
     2341 tgttggggca aaaggtgcca gggccccaaa gtaaaaggaa tggcagagct cacttctgta
     2401 ccacgtctgc tggtctccag ccttgtatgg agttagaagc gtctgtatct ctggagcagc
     2461 caggcgctct ggagccagct ggagagagag agatcctgat acctctgtgg ggactgtggg
     2521 gacttttggg accccacaca ctccaggtgg gatcagatgc tgctccaacc atgcagttcc
     2581 tggtgagggt cagaagggga cggtaccaag agtagcgctt agcccttacc caggaaatat
     2641 ccttcatggc cacagaaatg gagggcgccc aggatccagg cagccaccgg gaacagtcag
     2701 ctttctttat taaatgtgct cacaaagca
//
