LOCUS       NM_001346793            1171 bp    mRNA    linear   PRI 06-APR-2024
DEFINITION  Homo sapiens ankyrin repeat domain 2 (ANKRD2), transcript variant
            5, mRNA.
ACCESSION   NM_001346793
VERSION     NM_001346793.2
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 1171)
  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   2  (bases 1 to 1171)
  AUTHORS   Jasnic-Savovic,J., Krause,S., Savic,S., Kojic,A., Kovcic,V.,
            Boskovic,S., Nestorovic,A., Rakicevic,L., Schreiber-Katz,O.,
            Vogel,J.G., Schoser,B.G., Walter,M.C., Valle,G., Radojkovic,D.,
            Faulkner,G. and Kojic,S.
  TITLE     Differential expression and localization of Ankrd2 isoforms in
            human skeletal and cardiac muscles
  JOURNAL   Histochem Cell Biol 146 (5), 569-584 (2016)
   PUBMED   27393496
  REMARK    GeneRIF: The results set the stage for investigation of the
            specific functions and interactions of the Ankrd2 isoforms in
            healthy and diseased human striated muscles.
REFERENCE   3  (bases 1 to 1171)
  AUTHORS   Jasnic-Savovic,J., Nestorovic,A., Savic,S., Karasek,S., Vitulo,N.,
            Valle,G., Faulkner,G., Radojkovic,D. and Kojic,S.
  TITLE     Profiling of skeletal muscle Ankrd2 protein in human cardiac tissue
            and neonatal rat cardiomyocytes
  JOURNAL   Histochem Cell Biol 143 (6), 583-597 (2015)
   PUBMED   25585647
  REMARK    GeneRIF: The Ankrd2 was found to be expressed in both the cytoplasm
            and nucleus, independently from maturation status of
            cardiomyocytes.
REFERENCE   4  (bases 1 to 1171)
  AUTHORS   Lun,A.S., Chen,J. and Lange,S.
  TITLE     Probing muscle ankyrin-repeat protein (MARP) structure and function
  JOURNAL   Anat Rec (Hoboken) 297 (9), 1615-1629 (2014)
   PUBMED   25125175
  REMARK    GeneRIF: Report structure activity relationships for ANKRD2.
REFERENCE   5  (bases 1 to 1171)
  AUTHORS   Mckoy,G., Hou,Y., Yang,S.Y., Vega Avelaira,D., Degens,H.,
            Goldspink,G. and Coulton,G.R.
  TITLE     Expression of Ankrd2 in fast and slow muscles and its response to
            stretch are consistent with a role in slow muscle function
  JOURNAL   J Appl Physiol (1985) 98 (6), 2337-43 (2005)
   PUBMED   15677738
  REMARK    GeneRIF: The orthologs of ANKRD2 in mouse and rat, which are also
            titin binding proteins, are stretch-response genes associated with
            slow muscle function and these proteins are part of a separate
            mechanotransduction system to the one that regulates muscle mass.
REFERENCE   6  (bases 1 to 1171)
  AUTHORS   Miller,M.K., Bang,M.L., Witt,C.C., Labeit,D., Trombitas,C.,
            Watanabe,K., Granzier,H., McElhinny,A.S., Gregorio,C.C. and
            Labeit,S.
  TITLE     The muscle ankyrin repeat proteins: CARP, ankrd2/Arpp and DARP as a
            family of titin filament-based stress response molecules
  JOURNAL   J Mol Biol 333 (5), 951-964 (2003)
   PUBMED   14583192
REFERENCE   7  (bases 1 to 1171)
  AUTHORS   Moriyama,M., Tsukamoto,Y., Fujiwara,M., Kondo,G., Nakada,C.,
            Baba,T., Ishiguro,N., Miyazaki,A., Nakamura,K., Hori,N., Sato,K.,
            Shomori,K., Takeuchi,K., Satoh,H., Mori,S. and Ito,H.
  TITLE     Identification of a novel human ankyrin-repeated protein homologous
            to CARP
  JOURNAL   Biochem Biophys Res Commun 285 (3), 715-723 (2001)
   PUBMED   11453652
REFERENCE   8  (bases 1 to 1171)
  AUTHORS   Pallavicini,A., Kojic,S., Bean,C., Vainzof,M., Salamon,M.,
            Ievolella,C., Bortoletto,G., Pacchioni,B., Zatz,M., Lanfranchi,G.,
            Faulkner,G. and Valle,G.
  TITLE     Characterization of human skeletal muscle Ankrd2
  JOURNAL   Biochem Biophys Res Commun 285 (2), 378-386 (2001)
   PUBMED   11444853
REFERENCE   9  (bases 1 to 1171)
  AUTHORS   Kemp,T.J., Sadusky,T.J., Saltisi,F., Carey,N., Moss,J., Yang,S.Y.,
            Sassoon,D.A., Goldspink,G. and Coulton,G.R.
  TITLE     Identification of Ankrd2, a novel skeletal muscle gene coding for a
            stretch-responsive ankyrin-repeat protein
  JOURNAL   Genomics 66 (3), 229-241 (2000)
   PUBMED   10873377
REFERENCE   10 (bases 1 to 1171)
  AUTHORS   Lanfranchi,G., Muraro,T., Caldara,F., Pacchioni,B., Pallavicini,A.,
            Pandolfo,D., Toppo,S., Trevisan,S., Scarso,S. and Valle,G.
  TITLE     Identification of 4370 expressed sequence tags from a
            3'-end-specific cDNA library of human skeletal muscle by DNA
            sequencing and filter hybridization
  JOURNAL   Genome Res 6 (1), 35-42 (1996)
   PUBMED   8681137
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL359388.32 and AL355315.18.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Jun 2, 2019 this sequence version replaced NM_001346793.1.
            
            Summary: This gene encodes a protein that belongs to the muscle
            ankyrin repeat protein (MARP) family. A similar gene in rodents is
            a component of a muscle stress response pathway and plays a role in
            the stretch-response associated with slow muscle function.
            Alternative splicing results in multiple transcript variants
            encoding different isoforms. [provided by RefSeq, Mar 2014].
            
            Transcript Variant: This variant (1) represents the use of a
            downstream in-frame start codon compared to the AUG used in the
            transcript that produces isoform c. The encoded isoform (e, also
            known as S-Ankrd2) has a shorter N-terminus compared to isoform c.
            
            Sequence Note: This RefSeq record was created from transcript and
            genomic sequence data to make the sequence consistent with the
            reference genome assembly. The genomic coordinates used for the
            transcript record were based on transcript alignments.
            
            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 :: SRR5189655.76872.1, AB058599.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA2145774, SAMEA2145893
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            CDS uses downstream in-frame AUG :: experimental evidence
                                                (PMID:27393496)
            MANE Ensembl match               :: ENST00000370655.6/
                                                ENSP00000359689.1
            RefSeq Select criteria           :: based on manual assertion,
                                                conservation, expression
            ##RefSeq-Attributes-END##
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-97                AL359388.32        85853-85949
            98-199              AL355315.18        6575-6676
            200-358             AL355315.18        7015-7173
            359-466             AL355315.18        7273-7380
            467-565             AL355315.18        9630-9728
            566-664             AL355315.18        10091-10189
            665-763             AL355315.18        11090-11188
            764-862             AL355315.18        11379-11477
            863-1171            AL355315.18        12351-12659
FEATURES             Location/Qualifiers
     source          1..1171
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10q24.2"
     gene            1..1171
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /note="ankyrin repeat domain 2"
                     /db_xref="GeneID:26287"
                     /db_xref="HGNC:HGNC:495"
                     /db_xref="MIM:610734"
     exon            1..97
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     CDS             11..1012
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /note="isoform e is encoded by transcript variant 5;
                     ankyrin repeat domain-containing protein 2; skeletal
                     muscle ankyrin repeat protein; ankyrin repeat domain 2
                     (stretch responsive muscle)"
                     /codon_start=1
                     /product="ankyrin repeat domain-containing protein 2
                     isoform e"
                     /protein_id="NP_001333722.1"
                     /db_xref="CCDS:CCDS86133.1"
                     /db_xref="GeneID:26287"
                     /db_xref="HGNC:HGNC:495"
                     /db_xref="MIM:610734"
                     /translation="MDGTMEDSEAVQRATALIEQRLAQEEENEKLRGDARQKLPMDLL
                     VLEDEKHHGAQSAALQKVKGQERVRKTSLDLRREIIDVGGIQNLIELRKKRKQKKRDA
                     LAASHEPPPEPEEITGPVDEETFLKAAVEGKMKVIEKFLADGGSADTCDQFRRTALHR
                     ASLEGHMEILEKLLDNGATVDFQDRLDCTAMHWACRGGHLEVVKLLQSHGADTNVRDK
                     LLSTPLHVAVRTGQVEIVEHFLSLGLEINARDREGDTALHDAVRLNRYKIIKLLLLHG
                     ADMMTKNLAGKTPTDLVQLWQADTRHALEHPEPGAEHNGLEGPNDSGRETPQPVPAQ"
     exon            98..199
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            200..358
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            359..466
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            467..565
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            566..664
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            665..763
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            764..862
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     exon            863..1171
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1149..1154
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /note="hexamer: AATAAA"
     polyA_site      1171
                     /gene="ANKRD2"
                     /gene_synonym="ARPP"
                     /note="major polyA site"
ORIGIN      
        1 agaggcggtt atggacggca ccatggagga ctccgaggcg gtgcagaggg ccacagcgct
       61 catcgagcag cggctggcac aggaggagga gaatgagaaa ctccgaggag acgcacgcca
      121 gaagctgccc atggacttgc tggtgctgga ggatgagaag caccacgggg ctcagagtgc
      181 agccctgcag aaggtgaagg gccaagagcg cgtgcgcaag acgtccctgg acctgcggcg
      241 ggagatcatc gatgtgggcg ggatccagaa cctcatcgag ctgcggaaga aacgcaagca
      301 gaagaagcgg gacgctctgg ccgcctcgca tgagccgccc ccagagcccg aggagatcac
      361 tggccctgtg gatgaggaga ccttcctgaa agctgcggtg gaggggaaaa tgaaggtcat
      421 tgagaagttc ctggctgacg gggggtcagc cgacacgtgc gaccagttcc gtcggacagc
      481 actgcaccga gcttccctgg aaggccacat ggaaatcctg gagaagcttc tagataatgg
      541 ggccactgtg gacttccagg atcggctgga ctgcacagcc atgcattggg cctgccgcgg
      601 gggccactta gaggtggtga aacttctgca aagccatgga gcagacacca atgtgaggga
      661 taagctgctg agcaccccgc tgcacgtggc agtccggaca gggcaggtgg agattgtgga
      721 gcactttcta tccctgggcc tggaaatcaa tgccagagac agggaagggg atactgccct
      781 gcatgacgct gtgaggctca accgctacaa aatcatcaaa ctgctgctcc tgcatggggc
      841 tgacatgatg accaagaacc tggcaggaaa gaccccgacg gacctggtgc agctctggca
      901 ggctgatacc cggcacgccc tggagcatcc tgagccgggg gctgagcata acgggctgga
      961 ggggcctaat gatagtgggc gagagacccc tcagcctgtg ccagcccagt gaatgcgtgc
     1021 cccagcccag ccagctaccc agcccctctc tgtgtgcagc cggagggtcc taagaatggc
     1081 tcccggagct aactgagggc ccagcctttt ttctgcatga tccaggagca cataccacaa
     1141 actaccacaa taaaaaagct gtttttgcta a
//
