LOCUS       NM_139285               3375 bp    mRNA    linear   PRI 21-SEP-2024
DEFINITION  Homo sapiens growth arrest specific 2 like 2 (GAS2L2), mRNA.
ACCESSION   NM_139285
VERSION     NM_139285.4
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 3375)
  AUTHORS   Feng,G., Xu,Y., Saso,S., Sasano,H., Kondoh,S., Itani,H., Gotoh,S.,
            Nagao,M., Ikejiri,M., Tanabe,M. and Takeuchi,K.
  TITLE     A Novel Homozygous Variant in GAS2L2 in Two Sisters with Primary
            Ciliary Dyskinesia
  JOURNAL   Intern Med 61 (18), 2765-2769 (2022)
   PUBMED   36104176
  REMARK    GeneRIF: A Novel Homozygous Variant in GAS2L2 in Two Sisters with
            Primary Ciliary Dyskinesia.
REFERENCE   2  (bases 1 to 3375)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   3  (bases 1 to 3375)
  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   4  (bases 1 to 3375)
  AUTHORS   Bustamante-Marin,X.M., Yin,W.N., Sears,P.R., Werner,M.E.,
            Brotslaw,E.J., Mitchell,B.J., Jania,C.M., Zeman,K.L., Rogers,T.D.,
            Herring,L.E., Refabert,L., Thomas,L., Amselem,S., Escudier,E.,
            Legendre,M., Grubb,B.R., Knowles,M.R., Zariwala,M.A. and
            Ostrowski,L.E.
  TITLE     Lack of GAS2L2 Causes PCD by Impairing Cilia Orientation and
            Mucociliary Clearance
  JOURNAL   Am J Hum Genet 104 (2), 229-245 (2019)
   PUBMED   30665704
  REMARK    GeneRIF: results show that a pathogenic variant in GAS2L2 causes a
            genetic defect in ciliary orientation and impairs mucociliary
            clearance and results in primary ciliary dyskinesia
REFERENCE   5  (bases 1 to 3375)
  AUTHORS   Stroud,M.J., Nazgiewicz,A., McKenzie,E.A., Wang,Y., Kammerer,R.A.
            and Ballestrem,C.
  TITLE     GAS2-like proteins mediate communication between microtubules and
            actin through interactions with end-binding proteins
  JOURNAL   J Cell Sci 127 (Pt 12), 2672-2682 (2014)
   PUBMED   24706950
  REMARK    GeneRIF: GAS2L1 and GAS2L2 are differentially involved in mediating
            the crosstalk between F-actin and microtubules.
REFERENCE   6  (bases 1 to 3375)
  AUTHORS   Goriounov,D., Leung,C.L. and Liem,R.K.
  TITLE     Protein products of human Gas2-related genes on chromosomes 17 and
            22 (hGAR17 and hGAR22) associate with both microfilaments and
            microtubules
  JOURNAL   J Cell Sci 116 (Pt 6), 1045-1058 (2003)
   PUBMED   12584248
  REMARK    GeneRIF: The beta isoforms of hGAR17 and hGAR22 appear to be able
            to crosslink microtubules and microfilaments
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AC006237.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 5, 2019 this sequence version replaced NM_139285.3.
            
            Summary: The protein encoded by this gene appears to crosslink
            microtubules and microfilaments and may be part of the
            cytoskeleton. This gene is mainly expressed in skeletal muscle.
            [provided by RefSeq, Jul 2011].
            
            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.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AF508785.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1968189,
                                           SAMEA1968540 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000604641.6/ ENSP00000474529.2
            RefSeq Select criteria :: based on single protein-coding transcript
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-774               AC006237.1         34760-35533
            775-1016            AC006237.1         37681-37922
            1017-1124           AC006237.1         38782-38889
            1125-1221           AC006237.1         40054-40150
            1222-1474           AC006237.1         40731-40983
            1475-3375           AC006237.1         41588-43488
FEATURES             Location/Qualifiers
     source          1..3375
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q12"
     gene            1..3375
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /note="growth arrest specific 2 like 2"
                     /db_xref="GeneID:246176"
                     /db_xref="HGNC:HGNC:24846"
                     /db_xref="MIM:611398"
     exon            1..774
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     CDS             390..3032
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /note="GAS2-related protein on chromosome 17"
                     /codon_start=1
                     /product="GAS2-like protein 2"
                     /protein_id="NP_644814.1"
                     /db_xref="CCDS:CCDS11298.1"
                     /db_xref="GeneID:246176"
                     /db_xref="HGNC:HGNC:24846"
                     /db_xref="MIM:611398"
                     /translation="MSQPAGGRRKPRTLGPPVCSIRPFKSSEQYLEAMKEDLAEWLRD
                     LYGLDIDAANFLQVLETGLVLCQHANVVTDAALAFLAEAPAQAQKIPMPRVGVSCNGA
                     AQPGTFQARDNVSNFIQWCRKEMGIQEVLMFETEDLVLRKNVKNVVLCLLELGRRAWR
                     FGVAAPTLVQLEEEIEEEVRRELALPPPDPSPPAPPRRQPCHFRNLDQMVQSLVSHCT
                     CPVQFSMVKVSEGKYRVGDSNTLIFIRILRNHVMVRVGGGWDTLGHYLDKHDPCRCTS
                     LSHKPGSFLKPPAPPVQHEVRVQDGPSQTQPTMTISRSQSPPPPVDWKTYTSSDRRLR
                     PPTPSSPRPRRERGAGTGASREMAPFLRCQERSLIPSWRQPTAGDSPPSPQSSSTQKG
                     RDPQCTSSGKREERYPPELPRGRIPTSWVHEETDSWGTDAGNPTPQRLRAIEATTKGI
                     SARGPSPLPRSFGPAECLGLRLPLRDEAKGAFFQFREPESVRSPTPVQGLTKIPIRLP
                     PARPPTPGRSFPGATSGSPRTELGRDPIPLRAVTVDLAGSTHGDCSVEVRQEDQQLDI
                     QVMAEARESWDLGLQEQEGRYTPLPLGGNKEQAIYCSLEEEILGNMKLLEVRSACPQG
                     TRSGVIPRSGVYIPRLAGQWPEPGGPYDKAIQELAQGSPSLLKVDLEAWKAAPTGSPK
                     PAVTPGPGSLKGKLGARQSGPRTKASLSAKGTHMRKVPPQGGQDCSASTVSASPEAPT
                     PSPLDPNSDKAKACLSKGRRTLRKPKRVPSIYKLKLRPRIRPRRDHRPEKQPSRIPRP
                     LAYVFLGPARQPPKDRLLRAVLGSKGGEASRVDGASVGEEEEEGKEEKEPAAPLESSP
                     QPPEGLQPHWLNQAPLPPEEESWV"
     exon            775..1016
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1017..1124
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1125..1221
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1222..1474
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     exon            1475..3375
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3349..3354
                     /regulatory_class="polyA_signal_sequence"
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /note="hexamer: ATTAAA"
     polyA_site      3375
                     /gene="GAS2L2"
                     /gene_synonym="CILD41; GAR17"
                     /note="major polyA site"
ORIGIN      
        1 accccaggct ctgtggccgc agccagcaga gggtaggagg cagccagctt gatctctcca
       61 gctctgggga aagagaggag tgtcctcact tccatctggc ctcagagggg tgaactccaa
      121 gtggactggg cagcctgaga gcaaggttgc tgcagggcca ccagggaaag ctctggcaag
      181 gactgaggaa tgtggggggg caggggctgg gccaggcctg gcagctgaag ccagtggcaa
      241 gtagcagcac tggaggtccc gggctctcag cgagtacacg ggaacctcag aatcaggaag
      301 aacccagccg agacccagca gcagcgggag gaaagaggcg gcagtgggag aggggaggtg
      361 cccacctcct gccctgctgg ggtccagcca tgtcccagcc tgcgggaggc aggaggaagc
      421 ccaggaccct agggccgcct gtgtgcagta tccggccttt caagtcgagt gagcagtacc
      481 tggaggccat gaaggaagac ctggctgagt ggcttcgcga cctctatggg ctggacatcg
      541 acgcagccaa cttcctgcag gtgctggaaa cgggcctggt gctgtgccaa cacgccaacg
      601 ttgtcactga cgctgccctg gccttcctgg ctgaggcacc tgcccaagcc cagaagattc
      661 ccatgccccg ggtcggggtc tcctgcaatg gggccgccca gccaggtacc ttccaggcca
      721 gggacaatgt ctctaacttc atccagtggt gtcgaaagga gatgggcatc caagaggtgc
      781 tgatgttcga gacggaggac ttggtgctgc gcaagaacgt gaagaacgtg gtgctgtgtt
      841 tgctggagct gggccgccgg gcgtggcgct ttggtgttgc ggcgcccaca ctcgtgcagc
      901 tggaggagga gatcgaggag gaggtgcggc gggagctggc cctgcccccg cccgacccct
      961 cgccgccagc gccccccagg cgccagccct gccacttccg caacctggac cagatggtgc
     1021 agagccttgt gagccactgc acgtgcccag tgcagttctc catggtcaaa gtgtctgagg
     1081 ggaagtaccg tgtgggtgac tccaacaccc tcatcttcat ccggatcctc cggaaccatg
     1141 tgatggtacg tgtagggggc ggctgggaca cactgggcca ttacctggac aaacatgacc
     1201 cctgccgctg cacatccctc tcacacaagc caggcagctt cctgaagccc ccggccccac
     1261 cagtgcagca tgaagtaagg gtacaggatg gaccctcaca gacccagcct acaatgacca
     1321 tcagccgctc acagagccca ccaccccctg tggactggaa gacatatacc tcttcagacc
     1381 gaaggctgag gccccccacc ccatcctccc ccagaccccg cagggaacgg ggagcaggga
     1441 cgggggcctc cagagagatg gcaccattcc tgaggtgcca ggagaggtct ctcatcccat
     1501 cttggaggca gccgacagct ggggacagcc cacccagccc ccagtcctca tctacccaaa
     1561 aaggccgaga cccacagtgt acctcgtcag gaaagaggga ggagagatac ccccctgaac
     1621 tccccagggg aaggattccc acatcttggg ttcatgaaga aacagacagc tggggaaccg
     1681 acgccgggaa ccccacccca caaagactcc gagccattga ggccaccacc aaagggatat
     1741 cagcaagagg accatctccc ctgcctcgtt cctttggccc agccgagtgc ctgggcctca
     1801 ggctgccact ccgggatgag gccaagggtg cgttcttcca gttcagggag ccagagtctg
     1861 tccgttctcc aacccctgtc caaggcctaa ccaagatccc catccggctg ccccctgctc
     1921 gccccccaac accaggaagg agctttcctg gtgctacaag tggaagtccc aggacagaac
     1981 ttgggagaga ccccatccca ctaagggccg tcactgtgga cctggctggg tccacgcatg
     2041 gggactgctc tgtggaagtg aggcaggagg accagcagct ggacatccag gtcatggcag
     2101 aggccagaga gtcctgggac ctgggcctac aggagcagga ggggcggtac acacctctgc
     2161 ccttgggcgg gaacaaggag caagccatct actgtagcct tgaagaggag attttgggca
     2221 acatgaagct gctagaagtc aggagtgcct gtccgcaggg cacaaggtct ggggtcatcc
     2281 ctcgcagtgg ggtctacatc cccaggctgg ctgggcagtg gcctgagcct gggggtcctt
     2341 atgacaaagc catccaagaa ctggctcagg ggtccccatc cctccttaaa gtggacctgg
     2401 aagcctggaa ggcagccccg actggctccc ctaagccagc tgttacccca ggaccgggaa
     2461 gcctcaaagg gaagttggga gccagacaga gtgggcccag gacaaaggca agcctgagtg
     2521 ccaagggcac ccacatgagg aaggtcccac ctcagggagg gcaggactgc tcggcttcta
     2581 ctgtgtctgc cagcccggag gcccccacac cttcgccctt ggaccccaac tctgacaaag
     2641 ccaaggcatg tctgagcaag ggcaggagaa ctctccggaa gcccaagagg gtcccgtcca
     2701 tctacaagct gaagctgaga cccaggattc ggccccggag agaccacagg cctgagaagc
     2761 agccttcacg aatccccagg ccactggcct atgtcttcct gggtccagcc aggcagcccc
     2821 ccaaggacag gctgttgaga gctgtgctgg gcagcaaggg aggggaggca tcccgggtgg
     2881 atggagcttc agtaggtgag gaggaggagg aaggaaagga ggagaaagag ccagccgctc
     2941 cattggagag cagcccccaa cctccagagg gcctgcaacc tcactggctt aatcaagctc
     3001 cacttccacc tgaggaggag tcctgggtct gaggcacatg agcgtgttgg gtaggaggga
     3061 agcaaaaagg atggccatgt atacactgga ttcacagctg cgggaacaga agggatgttc
     3121 cctcacctcc acacagggcc ttgggcagga gtgggtcaga agacaaatat agactccatc
     3181 tgctcatctg agcaaagggg caacccactg ctctcactcc aactccagag gtaggccagg
     3241 ggcagtagga ccatcctgta tctcattact ctcccctaga acggctcacc acactcctgg
     3301 cctctggccc ctggccatgc ccacctgttt ccataactcc cataagttat taaatgcatg
     3361 tgattctgcc cttga
//
