LOCUS       NM_001613               1349 bp    mRNA    linear   PRI 15-OCT-2024
DEFINITION  Homo sapiens actin alpha 2, smooth muscle (ACTA2), transcript
            variant 2, mRNA.
ACCESSION   NM_001613 XR_017865
VERSION     NM_001613.4
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 1349)
  AUTHORS   Sebastian,W.A., Inoue,M., Shimizu,N., Sato,R., Oguri,S.,
            Itonaga,T., Kishimoto,S., Shiraishi,H., Hanada,T. and Ihara,K.
  TITLE     Cardiac manifestations of human ACTA2 variants recapitulated in a
            zebrafish model
  JOURNAL   J Hum Genet 69 (3-4), 133-138 (2024)
   PUBMED   38316882
  REMARK    GeneRIF: Cardiac manifestations of human ACTA2 variants
            recapitulated in a zebrafish model.
REFERENCE   2  (bases 1 to 1349)
  AUTHORS   Akbas,G. and Bagci,P.
  TITLE     The Importance of Stroma and Stromal SMA Expression in Pancreatic
            Ductal Adenocarcinoma
  JOURNAL   Turk Patoloji Derg 40 (3), 181-189 (2024)
   PUBMED   38938104
  REMARK    GeneRIF: The Importance of Stroma and Stromal SMA Expression in
            Pancreatic Ductal Adenocarcinoma.
REFERENCE   3  (bases 1 to 1349)
  AUTHORS   Tenyi,A., Milutinovic,A. and Nemeth,L.
  TITLE     Expression of CD31, CD34, and smooth muscle actin (SMA) in
            endothelial cells of dental pulp vessels
  JOURNAL   Biomol Biomed 24 (4), 821-826 (2023)
   PUBMED   38153414
  REMARK    GeneRIF: Expression of CD31, CD34, and smooth muscle actin (SMA) in
            endothelial cells of dental pulp vessels.
            Publication Status: Online-Only
REFERENCE   4  (bases 1 to 1349)
  AUTHORS   Bobba,C.M., Azarrafiy,R., Spratt,J.R., Hendrickson,J., Martin,T.D.,
            Arnaoutakis,G.J., Jeng,E.I. and Beaver,T.M.
  TITLE     A highly penetrant ACTA2 mutation of thoracic aortic disease
  JOURNAL   J Cardiothorac Surg 18 (1), 352 (2023)
   PUBMED   38044429
  REMARK    GeneRIF: A highly penetrant ACTA2 mutation of thoracic aortic
            disease.
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1349)
  AUTHORS   Yuan,S.M.
  TITLE     alpha-Smooth Muscle Actin and ACTA2 Gene Expressions in
            Vasculopathies
  JOURNAL   Braz J Cardiovasc Surg 30 (6), 644-649 (2015)
   PUBMED   26934405
  REMARK    GeneRIF: ACTA2 mutations are associated with structural disruption
            and functional impairment of contractile proteins, and predispose
            to a variety of diffuse vascular diseases including TAAD, CAD,
            ischemic strokes, and Moyamoya disease. Vascular SMCs are also
            implicated in vascular remodeling in both physiological and
            pathological conditions.
            Review article
REFERENCE   6  (bases 1 to 1349)
  AUTHORS   Milewicz,D.M. and Cecchi,A.C.
  TITLE     Heritable Thoracic Aortic Disease Overview
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301299
REFERENCE   7  (bases 1 to 1349)
  AUTHORS   Harris,D.E., Warshaw,D.M. and Periasamy,M.
  TITLE     Nucleotide sequences of the rabbit alpha-smooth-muscle and
            beta-non-muscle actin mRNAs
  JOURNAL   Gene 112 (2), 265-266 (1992)
   PUBMED   1555776
REFERENCE   8  (bases 1 to 1349)
  AUTHORS   Jahoda,C.A., Reynolds,A.J., Chaponnier,C., Forester,J.C. and
            Gabbiani,G.
  TITLE     Smooth muscle alpha-actin is a marker for hair follicle dermis in
            vivo and in vitro
  JOURNAL   J Cell Sci 99 (Pt 3), 627-636 (1991)
   PUBMED   1939373
REFERENCE   9  (bases 1 to 1349)
  AUTHORS   Nakano,Y., Nishihara,T., Sasayama,S., Miwa,T., Kamada,S. and
            Kakunaga,T.
  TITLE     Transcriptional regulatory elements in the 5' upstream and first
            intron regions of the human smooth muscle (aortic type)
            alpha-actin-encoding gene
  JOURNAL   Gene 99 (2), 285-289 (1991)
   PUBMED   2022339
REFERENCE   10 (bases 1 to 1349)
  AUTHORS   Ueyama,H. and Ohsugi,R.
  TITLE     TaqI polymorphism in the 3' flanking region of the human aortic
            smooth muscle actin gene
  JOURNAL   Nucleic Acids Res 18 (5), 1318 (1990)
   PUBMED   1969628
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from BP320140.1, BC093052.1 and
            BQ029841.1.
            
            On Nov 22, 2018 this sequence version replaced NM_001613.3.
            
            Summary: This gene encodes one of six different actin proteins.
            Actins are highly conserved proteins that are involved in cell
            motility, structure, integrity, and intercellular signaling. The
            encoded protein is a smooth muscle actin that is involved in
            vascular contractility and blood pressure homeostasis. Mutations in
            this gene cause a variety of vascular diseases, such as thoracic
            aortic disease, coronary artery disease, stroke, and Moyamoya
            disease, as well as multisystemic smooth muscle dysfunction
            syndrome. [provided by RefSeq, Sep 2017].
            
            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 :: SRR5189652.142831.1,
                                           SRR5189652.195477.1 [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968189, SAMEA1968540
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000224784.10/ ENSP00000224784.6
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-1                 BP320140.1         105-105
            2-1346              BC093052.1         1-1345
            1347-1349           BQ029841.1         17-19               c
FEATURES             Location/Qualifiers
     source          1..1349
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q23.31"
     gene            1..1349
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /note="actin alpha 2, smooth muscle"
                     /db_xref="GeneID:59"
                     /db_xref="HGNC:HGNC:130"
                     /db_xref="MIM:102620"
     exon            1..43
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            44..195
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     CDS             67..1200
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /note="isoform 1 is encoded by transcript variant 2;
                     alpha-cardiac actin; actin, aortic smooth muscle; cell
                     growth-inhibiting gene 46 protein; actin, alpha 2, smooth
                     muscle, aorta"
                     /codon_start=1
                     /product="actin, aortic smooth muscle isoform 1"
                     /protein_id="NP_001604.1"
                     /db_xref="CCDS:CCDS7392.1"
                     /db_xref="GeneID:59"
                     /db_xref="HGNC:HGNC:130"
                     /db_xref="MIM:102620"
                     /translation="MCEEEDSTALVCDNGSGLCKAGFAGDDAPRAVFPSIVGRPRHQG
                     VMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHSFYNELRVAPEE
                     HPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG
                     VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKL
                     CYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGI
                     HETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAP
                     PERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF"
     exon            196..324
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            325..435
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            436..520
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            521..682
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            683..874
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            875..1056
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     exon            1057..1349
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1323..1328
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /note="hexamer: AATAAA"
     polyA_site      1349
                     /gene="ACTA2"
                     /gene_synonym="ACTSA; SMDYS"
                     /note="major polyA site"
ORIGIN      
        1 gaacaccacc cagtgtggag cagcccagcc aagcactgtc aggaatcctg tgaagcagct
       61 ccagctatgt gtgaagaaga ggacagcact gccttggtgt gtgacaatgg ctctgggctc
      121 tgtaaggccg gctttgctgg ggacgatgct cccagggctg ttttcccatc cattgtggga
      181 cgtcccagac atcagggggt gatggtggga atgggacaaa aagacagcta cgtgggtgac
      241 gaagcacaga gcaaaagagg aatcctgacc ctgaagtacc cgatagaaca tggcatcatc
      301 accaactggg acgacatgga aaagatctgg caccactctt tctacaatga gcttcgtgtt
      361 gcccctgaag agcatcccac cctgctcacg gaggcacccc tgaaccccaa ggccaaccgg
      421 gagaaaatga ctcaaattat gtttgagact ttcaatgtcc cagccatgta tgtggctatc
      481 caggcggtgc tgtctctcta tgcctctgga cgcacaactg gcatcgtgct ggactctgga
      541 gatggtgtca cccacaatgt ccccatctat gagggctatg ccttgcccca tgccatcatg
      601 cgtctggatc tggctggccg agatctcact gactacctca tgaagatcct gactgagcgt
      661 ggctattcct tcgttactac tgctgagcgt gagattgtcc gggacatcaa ggagaaactg
      721 tgttatgtag ctctggactt tgaaaatgag atggccactg ccgcatcctc atcctccctt
      781 gagaagagtt acgagttgcc tgatgggcaa gtgatcacca tcggaaatga acgtttccgc
      841 tgcccagaga ccctgttcca gccatccttc atcgggatgg agtctgctgg catccatgaa
      901 accacctaca acagcatcat gaagtgtgat attgacatca ggaaggacct ctatgctaac
      961 aatgtcctat cagggggcac cactatgtac cctggcattg ccgaccgaat gcagaaggag
     1021 atcacggccc tagcacccag caccatgaag atcaagatca ttgcccctcc ggagcgcaaa
     1081 tactctgtct ggatcggtgg ctccatcctg gcctctctgt ccaccttcca gcagatgtgg
     1141 atcagcaaac aggaatacga tgaagccggg ccttccattg tccaccgcaa atgcttctaa
     1201 aacactttcc tgctcctctc tgtctctagc acacaactgt gaatgtcctg tggaattatg
     1261 ccttcagttc ttttccaaat cattcctagc caaagctctg actcgttacc tatgtgtttt
     1321 ttaataaatc tgaaataggc tactggtaa
//
