LOCUS       NM_001615               1501 bp    mRNA    linear   PRI 11-OCT-2024
DEFINITION  Homo sapiens actin gamma 2, smooth muscle (ACTG2), transcript
            variant 1, mRNA.
ACCESSION   NM_001615
VERSION     NM_001615.4
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 1501)
  AUTHORS   Ceron,R.H., Baez-Cruz,F.A., Palmer,N.J., Carman,P.J.,
            Boczkowska,M., Heuckeroth,R.O., Ostap,E.M. and Dominguez,R.
  TITLE     Molecular mechanisms linking missense ACTG2 mutations to visceral
            myopathy
  JOURNAL   Sci Adv 10 (22), eadn6615 (2024)
   PUBMED   38820162
  REMARK    GeneRIF: Molecular mechanisms linking missense ACTG2 mutations to
            visceral myopathy.
REFERENCE   2  (bases 1 to 1501)
  AUTHORS   Liu,H., Xiang,P., Miao,W., Liu,H., Shen,H. and Xue,S.
  TITLE     Analysis of the Regulatory Effect of ACTG2 on Biological Behavior
            of Bladder Cancer Cells Based on Database Screening
  JOURNAL   Cell Mol Biol (Noisy-le-grand) 69 (1), 125-130 (2023)
   PUBMED   37213144
  REMARK    GeneRIF: Analysis of the Regulatory Effect of ACTG2 on Biological
            Behavior of Bladder Cancer Cells Based on Database Screening.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1501)
  AUTHORS   Kapur,R.P., Goldstein,A.M., Loeff,D.S., Myers,C.T. and Paschal,C.R.
  TITLE     Intestinal Pathology in Patients With Pathogenic ACTG2-Variant
            Visceral Myopathy: 16 Patients From 12 Families and Review of the
            Literature
  JOURNAL   Pediatr Dev Pathol 25 (6), 581-597 (2022)
   PUBMED   35695198
  REMARK    GeneRIF: Intestinal Pathology in Patients With Pathogenic
            ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and
            Review of the Literature.
            Review article
REFERENCE   4  (bases 1 to 1501)
  AUTHORS   Krabek,R., Smed,V.M., Oestergaard,E. and Sundberg,K.
  TITLE     Variant in ACTG2 Causing Megacystis Microcolon Hypoperistalsis
            Syndrome and Severe Familial Postpartum Bleeding
  JOURNAL   Fetal Diagn Ther 49 (11-12), 491-495 (2022)
   PUBMED   36509086
  REMARK    GeneRIF: Variant in ACTG2 Causing Megacystis Microcolon
            Hypoperistalsis Syndrome and Severe Familial Postpartum Bleeding.
REFERENCE   5  (bases 1 to 1501)
  AUTHORS   Ueyama,H., Inazawa,J., Nishino,H., Han-Xiang,D., Ochiai,Y. and
            Ohkubo,I.
  TITLE     Chromosomal mapping of the human smooth muscle actin gene (enteric
            type, ACTA3) to 2p13.1 and molecular nature of the hindIII
            polymorphism
  JOURNAL   Genomics 25 (3), 720-723 (1995)
   PUBMED   7759108
REFERENCE   6  (bases 1 to 1501)
  AUTHORS   Ambartsumyan,L.
  TITLE     Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   31070878
REFERENCE   7  (bases 1 to 1501)
  AUTHORS   Bhagwat,P.K. and Wangler,M.F.
  TITLE     ACTG2 Visceral Myopathy
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   26072522
REFERENCE   8  (bases 1 to 1501)
  AUTHORS   Miwa,T., Manabe,Y., Kurokawa,K., Kamada,S., Kanda,N., Bruns,G.,
            Ueyama,H. and Kakunaga,T.
  TITLE     Structure, chromosome location, and expression of the human smooth
            muscle (enteric type) gamma-actin gene: evolution of six human
            actin genes
  JOURNAL   Mol Cell Biol 11 (6), 3296-3306 (1991)
   PUBMED   1710027
REFERENCE   9  (bases 1 to 1501)
  AUTHORS   Ueyama,H.
  TITLE     A HindIII DNA polymorphism in the human enteric type smooth muscle
            actin gene (ACTSG)
  JOURNAL   Nucleic Acids Res 19 (2), 411 (1991)
   PUBMED   1673027
REFERENCE   10 (bases 1 to 1501)
  AUTHORS   Miwa,T. and Kamada,S.
  TITLE     The nucleotide sequence of a human smooth muscle (enteric type)
            gamma-actin cDNA
  JOURNAL   Nucleic Acids Res 18 (14), 4263 (1990)
   PUBMED   2377475
REFERENCE   11 (bases 27 to 1288)
  AUTHORS   Miwa,T. and Kamada,S.
  TITLE     The nucleotide sequence of a human smooth muscle (enteric type)
            gamma-actin cDNA
  JOURNAL   Nucleic Acids Res. 18 (14), 4263 (1990)
   PUBMED   2377475
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BI850192.1, X16940.1,
            BC012617.1 and AC073046.7.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_001615.3.
            
            Summary: Actins are highly conserved proteins that are involved in
            various types of cell motility and in the maintenance of the
            cytoskeleton. Three types of actins, alpha, beta and gamma, have
            been identified in vertebrates. Alpha actins are found in muscle
            tissues and are a major constituent of the contractile apparatus.
            The beta and gamma actins co-exist in most cell types as components
            of the cytoskeleton and as mediators of internal cell motility.
            This gene encodes actin gamma 2; a smooth muscle actin found in
            enteric tissues. Alternative splicing results in multiple
            transcript variants encoding distinct isoforms. Based on similarity
            to peptide cleavage of related actins, the mature protein of this
            gene is formed by removal of two N-terminal peptides.[provided by
            RefSeq, Dec 2010].
            
            Transcript Variant: This variant (1) represents the longer
            transcript and encodes the longer 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 :: BC012617.1, AK312955.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1965299, SAMEA1966682
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000345517.8/ ENSP00000295137.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-9                 BI850192.1         43-51
            10-1288             X16940.1           1-1279
            1289-1289           BC012617.1         1293-1293
            1290-1501           AC073046.7         99748-99959
FEATURES             Location/Qualifiers
     source          1..1501
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="2"
                     /map="2p13.1"
     gene            1..1501
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /note="actin gamma 2, smooth muscle"
                     /db_xref="GeneID:72"
                     /db_xref="HGNC:HGNC:145"
                     /db_xref="MIM:102545"
     exon            1..44
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            45..206
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     CDS             81..1211
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /note="isoform 1 precursor is encoded by transcript
                     variant 1; actin, gamma-enteric smooth muscle; actin-like
                     protein; alpha-actin-3; actin, gamma 2, smooth muscle,
                     enteric"
                     /codon_start=1
                     /product="actin, gamma-enteric smooth muscle isoform 1
                     precursor"
                     /protein_id="NP_001606.1"
                     /db_xref="CCDS:CCDS1930.1"
                     /db_xref="GeneID:72"
                     /db_xref="HGNC:HGNC:145"
                     /db_xref="MIM:102545"
                     /translation="MCEEETTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQGV
                     MVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEEH
                     PTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGV
                     THNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLC
                     YVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIH
                     ETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPP
                     ERKYSVWIGGSILASLSTFQQMWISKPEYDEAGPSIVHRKCF"
     exon            207..335
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            336..446
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            447..531
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            532..693
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            694..885
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            886..1067
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     exon            1068..1501
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1270..1275
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /note="hexamer: ATTAAA"
     polyA_site      1289
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /note="major polyA site"
     regulatory      1475..1480
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
                     /note="hexamer: ATTAAA"
     polyA_site      1501
                     /gene="ACTG2"
                     /gene_synonym="ACT; ACTA3; ACTE; ACTL3; ACTSG; MMIHS5;
                     VSCM; VSCM1"
ORIGIN      
        1 acaccagccc tcagtcactg ggagaagaac ctctcatacc ctcggtgctc cagtccccag
       61 ctcactcagc cacacacacc atgtgtgaag aggagaccac cgcgctcgtg tgtgacaatg
      121 gctctggcct gtgcaaggca ggcttcgcag gagatgatgc cccccgggct gtcttcccct
      181 ccattgtggg ccgccctcgc caccagggtg tgatggtggg aatgggccag aaagacagct
      241 atgtggggga tgaggctcag agcaagcgag ggatcctaac tctcaaatac cccattgaac
      301 acggcatcat caccaactgg gatgacatgg agaagatctg gcaccactcc ttctacaatg
      361 agctgcgtgt agcacctgaa gagcacccca ccctgctcac agaggctccc ctaaatccca
      421 aggccaacag ggaaaagatg acccagatca tgtttgaaac cttcaatgtc cctgccatgt
      481 acgtcgccat tcaagctgtg ctctccctct atgcctctgg ccgcacgaca ggcatcgtcc
      541 tggattcagg tgatggcgtc acccacaatg tccccatcta tgaaggctat gccctgcccc
      601 atgccatcat gcgcctggac ttggctggcc gtgacctcac ggactacctc atgaagatcc
      661 tcacagagag aggctattcc tttgtgacca cagctgagag agaaattgtg cgagacatca
      721 aggagaagct gtgctatgtg gccctggatt ttgagaatga gatggccaca gcagcttcct
      781 cttcctccct ggagaagagc tatgagctgc cagatgggca ggttatcacc attggcaatg
      841 agcgcttccg ctgccctgag accctcttcc agccttcctt tattggcatg gagtccgctg
      901 gaattcatga gacaacctac aattccatca tgaagtgtga cattgacatc cgtaaggact
      961 tatatgccaa caatgtcctc tctgggggca ccaccatgta ccctggcatt gctgacagga
     1021 tgcagaagga gatcacagcc ctggccccca gcaccatgaa gatcaagatt attgctcccc
     1081 cagagcggaa gtactcagtc tggatcgggg gctctatcct ggcctctctc tccaccttcc
     1141 agcagatgtg gatcagcaag cctgagtatg atgaggcagg gccctccatt gtccacagga
     1201 agtgcttcta aagtcagaac aggttctcca aggatcccct cgagactact ctgttaccag
     1261 tcatgaaaca ttaaaaccta caagccttac ttctctgtgt ggggctcttt tttcctgggc
     1321 tatgtctcat acacagtgct aaggactttt cacacattac ttttaatcca tgcaatagtg
     1381 ctgtaaggta ggtgctatca ttatacccat attacagatg aggaaattga ggctcagaga
     1441 agtcaaggac ttgcgaagat cacacagatt ccagattaaa attcaagtat ctgactgcaa
     1501 a
//
