LOCUS       NM_018076               3603 bp    mRNA    linear   PRI 10-OCT-2024
DEFINITION  Homo sapiens outer dynein arm docking complex subunit 2 (ODAD2),
            transcript variant 3, mRNA.
ACCESSION   NM_018076
VERSION     NM_018076.5
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 3603)
  AUTHORS   Braschi,B., Omran,H., Witman,G.B., Pazour,G.J., Pfister,K.K.,
            Bruford,E.A. and King,S.M.
  TITLE     Consensus nomenclature for dyneins and associated assembly factors
  JOURNAL   J Cell Biol 221 (2) (2022)
   PUBMED   35006274
REFERENCE   2  (bases 1 to 3603)
  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 3603)
  AUTHORS   Raidt,J., Wallmeier,J., Hjeij,R., Onnebrink,J.G., Pennekamp,P.,
            Loges,N.T., Olbrich,H., Haffner,K., Dougherty,G.W., Omran,H. and
            Werner,C.
  TITLE     Ciliary beat pattern and frequency in genetic variants of primary
            ciliary dyskinesia
  JOURNAL   Eur Respir J 44 (6), 1579-1588 (2014)
   PUBMED   25186273
REFERENCE   4  (bases 1 to 3603)
  AUTHORS   Onoufriadis,A., Shoemark,A., Munye,M.M., James,C.T., Schmidts,M.,
            Patel,M., Rosser,E.M., Bacchelli,C., Beales,P.L., Scambler,P.J.,
            Hart,S.L., Danke-Roelse,J.E., Sloper,J.J., Hull,S., Hogg,C.,
            Emes,R.D., Pals,G., Moore,A.T., Chung,E.M. and Mitchison,H.M.
  CONSRTM   UK10K
  TITLE     Combined exome and whole-genome sequencing identifies mutations in
            ARMC4 as a cause of primary ciliary dyskinesia with defects in the
            outer dynein arm
  JOURNAL   J Med Genet 51 (1), 61-67 (2014)
   PUBMED   24203976
  REMARK    GeneRIF: Combined exome and whole-genome sequencing identifies
            mutations in ARMC4 as a cause of primary ciliary dyskinesia with
            defects in the outer dynein arm.
REFERENCE   5  (bases 1 to 3603)
  AUTHORS   Cheng,W., Ip,Y.T. and Xu,Z.
  TITLE     Gudu, an Armadillo repeat-containing protein, is required for
            spermatogenesis in Drosophila
  JOURNAL   Gene 531 (2), 294-300 (2013)
   PUBMED   24055424
REFERENCE   6  (bases 1 to 3603)
  AUTHORS   Hjeij,R., Lindstrand,A., Francis,R., Zariwala,M.A., Liu,X., Li,Y.,
            Damerla,R., Dougherty,G.W., Abouhamed,M., Olbrich,H., Loges,N.T.,
            Pennekamp,P., Davis,E.E., Carvalho,C.M., Pehlivan,D., Werner,C.,
            Raidt,J., Kohler,G., Haffner,K., Reyes-Mugica,M., Lupski,J.R.,
            Leigh,M.W., Rosenfeld,M., Morgan,L.C., Knowles,M.R., Lo,C.W.,
            Katsanis,N. and Omran,H.
  TITLE     ARMC4 mutations cause primary ciliary dyskinesia with randomization
            of left/right body asymmetry
  JOURNAL   Am J Hum Genet 93 (2), 357-367 (2013)
   PUBMED   23849778
  REMARK    GeneRIF: ARMC4 mutations cause primary ciliary dyskinesia with
            randomization of left/right body asymmetry.
REFERENCE   7  (bases 1 to 3603)
  AUTHORS   Comuzzie,A.G., Cole,S.A., Laston,S.L., Voruganti,V.S., Haack,K.,
            Gibbs,R.A. and Butte,N.F.
  TITLE     Novel genetic loci identified for the pathophysiology of childhood
            obesity in the Hispanic population
  JOURNAL   PLoS One 7 (12), e51954 (2012)
   PUBMED   23251661
REFERENCE   8  (bases 1 to 3603)
  AUTHORS   Harrington,J.J., Sherf,B., Rundlett,S., Jackson,P.D., Perry,R.,
            Cain,S., Leventhal,C., Thornton,M., Ramachandran,R.,
            Whittington,J., Lerner,L., Costanzo,D., McElligott,K., Boozer,S.,
            Mays,R., Smith,E., Veloso,N., Klika,A., Hess,J., Cothren,K., Lo,K.,
            Offenbacher,J., Danzig,J. and Ducar,M.
  TITLE     Creation of genome-wide protein expression libraries using random
            activation of gene expression
  JOURNAL   Nat Biotechnol 19 (5), 440-445 (2001)
   PUBMED   11329013
REFERENCE   9  (bases 1 to 3603)
  AUTHORS   Zariwala,M.A., Knowles,M.R. and Leigh,M.W.
  TITLE     Primary Ciliary Dyskinesia
  JOURNAL   (in) Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE and
            Amemiya A (Eds.);
            GENEREVIEWS(R);
            (1993)
   PUBMED   20301301
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL390866.14, BC085611.1,
            BC140846.1 and AK302627.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On May 17, 2019 this sequence version replaced NM_018076.4.
            
            Summary: The protein encoded by this gene contains ten Armadillo
            repeat motifs (ARMs) and one HEAT repeat, and is thought to be
            involved in ciliary and flagellar movement. This protein has been
            shown to localize to the ciliary axonemes and at the ciliary base
            of respiratory cells. Studies indicate that mutations in this gene
            cause partial outer dynein arm (ODA) defects in respiratory cilia.
            The cilia of cells with mutations in this gene displayed either
            reduced ciliary beat frequency and amplitude, or, complete
            immotility. Some individuals with primary ciliary dyskensia (PCD)
            have been shown to have mutations in this gene. PCD is
            characterized by chronic airway disease and left/right body
            asymmetry defects. Alternative splicing results in multiple
            transcript variants encoding different isoforms. [provided by
            RefSeq, Aug 2015].
            
            Transcript Variant: This variant (3) differs in the 5' UTR,
            compared to variant 1. Variants 1 and 3 encode the same protein
            (isoform 1).
            
            ##Evidence-Data-START##
            Transcript exon combination :: HM005697.1, AK001679.1 [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000305242.10/ ENSP00000306410.5
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-29                AL390866.14        123272-123300       c
            30-2182             BC085611.1         1-2153
            2183-3326           BC140846.1         2082-3225
            3327-3603           AK302627.1         2562-2838
FEATURES             Location/Qualifiers
     source          1..3603
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="10"
                     /map="10p12.1"
     gene            1..3603
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /note="outer dynein arm docking complex subunit 2"
                     /db_xref="GeneID:55130"
                     /db_xref="HGNC:HGNC:25583"
                     /db_xref="MIM:615408"
     exon            1..86
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            87..348
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     CDS             125..3259
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /note="isoform 1 is encoded by transcript variant 3;
                     armadillo repeat-containing protein 4; testis tissue
                     sperm-binding protein Li 74n; armadillo repeat containing
                     4"
                     /codon_start=1
                     /product="outer dynein arm-docking complex subunit 2
                     isoform 1"
                     /protein_id="NP_060546.2"
                     /db_xref="CCDS:CCDS7157.1"
                     /db_xref="GeneID:55130"
                     /db_xref="HGNC:HGNC:25583"
                     /db_xref="MIM:615408"
                     /translation="MGVALRKLTQWTAAGHGTGILEITPLNEAILKEIIVFVESFIYK
                     HPQEAKFVFVEPLEWNTSLAPSAFESGYVVSETTVKSEEVDKNGQPLLFLSVPQIKIR
                     SFGQLSRLLLIAKTGKLKEAQACVEANRDPIVKILGSDYNTMKENSIALNILGKITRD
                     DDPESEIKMKIAMLLKQLDLHLLNHSLKHISLEISLSPMTVKKDIELLKRFSGKGNQT
                     VLESIEYTSDYEFSNGCRAPPWRQIRGEICYVLVKPHDGETLCITCSAGGVFLNGGKT
                     DDEGDVNYERKGSIYKNLVTFLREKSPKFSENMSKLGISFSEDQQKEKDQLGKAPKKE
                     EAAALRKDISGSDKRSLEKNQINFWRNQMTKRWEPSLNWKTTVNYKGKGSAKEIQEDK
                     HTGKLEKPRPSVSHGRAQLLRKSAEKIEETVSDSSSESEEDEEPPDHRQEASADLPSE
                     YWQIQKLVKYLKGGNQTATVIALCSMRDFSLAQETCQLAIRDVGGLEVLINLLETDEV
                     KCKIGSLKILKEISHNPQIRQNIVDLGGLPIMVNILDSPHKSLKCLAAETIANVAKFK
                     RARRVVRQHGGITKLVALLDCAHDSTKPAQSSLYEARDVEVARCGALALWSCSKSHTN
                     KEAIRKAGGIPLLARLLKTSHENMLIPVVGTLQECASEENYRAAIKAERIIENLVKNL
                     NSENEQLQEHCAMAIYQCAEDKETRDLVRLHGGLKPLASLLNNTDNKERLAAVTGAIW
                     KCSISKENVTKFREYKAIETLVGLLTDQPEEVLVNVVGALGECCQERENRVIVRKCGG
                     IQPLVNLLVGINQALLVNVTKAVGACAVEPESMMIIDRLDGVRLLWSLLKNPHPDVKA
                     SAAWALCPCIKNAKDAGEMVRSFVGGLELIVNLLKSDNKEVLASVCAAITNIAKDQEN
                     LAVITDHGVVPLLSKLANTNNNKLRHHLAEAISRCCMWGRNRVAFGEHKAVAPLVRYL
                     KSNDTNVHRATAQALYQLSEDADNCITMHENGAVKLLLDMVGSPDQDLQEAAAGCISN
                     IRRLALATEKARYT"
     exon            349..506
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            507..699
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            700..806
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            807..943
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            944..1060
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1061..1266
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1267..1362
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1363..1510
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1511..1657
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1658..1867
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            1868..2110
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2111..2221
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2222..2376
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2377..2619
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2620..2734
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2735..2923
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            2924..3145
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     exon            3146..3603
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /inference="alignment:Splign:2.1.0"
     regulatory      3579..3584
                     /regulatory_class="polyA_signal_sequence"
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /note="hexamer: AATAAA"
     polyA_site      3603
                     /gene="ODAD2"
                     /gene_synonym="ARMC4; CILD23; gudu"
                     /note="major polyA site"
ORIGIN      
        1 agcgcgggcg cagagcgtct ctggcgcggg catacggtgc aacgggtccg cgggaatctt
       61 ggatgcgcgg aggtcccgag accaggtgcg tgtgctaagc tcaggtctga gcacggtgga
      121 tcccatgggt gtggctctga ggaaattgac gcagtggact gctgccggac atggaactgg
      181 aatcctcgaa atcacccctc taaatgaagc gatattgaaa gaaattattg tgtttgtgga
      241 gagttttatc tataaacatc ctcaagaggc aaaatttgtt tttgtggaac cacttgaatg
      301 gaacacaagt ttggcgccct cagcatttga atcaggttat gttgtcagtg aaacaacagt
      361 caaatcagaa gaagttgata aaaatggaca gcctttgcta tttctctctg taccacaaat
      421 taaaattagg agctttgggc agctgtcacg cttgttactt attgccaaaa ctgggaagtt
      481 gaaggaagcc caagcatgtg ttgaagctaa cagagacccc atagtaaaaa tcctgggctc
      541 tgattataat acaatgaaag aaaactcaat tgcattaaat attcttggca aaattaccag
      601 agatgatgat cctgaaagtg aaattaagat gaagattgct atgctgctta agcaattgga
      661 tctgcacctc ctcaatcatt ctctaaaaca tatttcatta gaaataagtt taagtcccat
      721 gacggtgaag aaggatatag aactgctcaa acgtttctca ggaaaaggaa accaaacagt
      781 cttggaatct attgaatata cctcagatta tgaattttca aatggatgtc gagccccacc
      841 gtggagacaa attcgtgggg aaatttgtta tgtgctggtg aaacctcacg atggtgagac
      901 tctgtgcatt acttgcagtg caggaggagt atttttaaat ggtggcaaaa cagatgatga
      961 aggggacgtt aattatgaga gaaaaggttc aatttataaa aaccttgtca catttttaag
     1021 agaaaaatca ccaaaatttt cagaaaatat gtctaaattg ggaattagct tcagtgaaga
     1081 ccagcaaaag gaaaaggatc agcttggcaa agcccccaag aaggaagaag cagctgccct
     1141 ccgcaaagac atttctggtt cagacaaaag gtcactggag aagaaccaaa ttaatttttg
     1201 gaggaatcaa atgaccaaga gatgggaacc aagcttaaac tggaagacca ctgttaatta
     1261 caaaggcaaa ggctcagcaa aagaaatcca agaggacaaa cacacaggaa aacttgaaaa
     1321 accaagacca tctgtttcac acggaagagc acaattactt cggaagagtg ctgaaaagat
     1381 tgaggaaact gttagcgata gctcctcaga aagtgaggaa gatgaagaac cacctgacca
     1441 tcgtcaggaa gcaagtgcag atttgccatc agaatattgg caaattcaga agctggtgaa
     1501 atatttaaag ggaggaaatc aaacagctac agtgattgcg ttgtgttcaa tgagggattt
     1561 cagcttagct caagaaacct gccagttggc catcagagat gttggaggcc tggaagtgct
     1621 gataaatttg cttgaaaccg atgaagtcaa atgtaagatt ggttcattaa aaatactgaa
     1681 ggaaatcagt cataatcctc aaatcagaca gaatattgtt gaccttgggg gcttaccaat
     1741 tatggtgaat atacttgatt ctccacacaa gagtctaaaa tgtttggcag ccgagactat
     1801 cgcgaatgtt gccaagttta aaagagcacg gcgggtggtg aggcagcacg ggggtatcac
     1861 caaactggtt gctctactag actgtgcaca tgattccaca aaacctgccc aatcgagtct
     1921 gtatgaggcc agagacgtgg aagtggctcg ctgtggggca ctggccctgt ggagctgcag
     1981 taagagtcat acgaataaag aagccatccg caaagctggg ggcattcctc tgttggctcg
     2041 gctgctgaag acttctcatg aaaacatgct aattccagtg gtggggacat tgcaagagtg
     2101 tgcatcagag gaaaactacc gggctgcaat caaagcagaa aggatcattg aaaaccttgt
     2161 caagaaccta aatagtgaga atgagcagct gcaggagcac tgcgccatgg ccatttacca
     2221 gtgtgctgaa gataaggaaa cccgggacct cgttaggctg cacggaggac ttaagccctt
     2281 ggccagtcta ctcaataaca ctgacaataa agagcggtta gctgctgtca caggggctat
     2341 atggaaatgt tccatcagca aagagaatgt taccaagttt cgggaataca aagccattga
     2401 aaccttggtg ggacttctaa cagatcagcc tgaagaagta cttgtgaatg tggttggggc
     2461 cttgggagaa tgctgccaag aacgtgaaaa ccgagtcatt gtccggaaat gtggtggcat
     2521 tcaaccactt gtgaacctcc ttgttggaat aaaccaagct cttcttgtga atgttacaaa
     2581 agcagttggt gcttgtgcag tagaacctga aagtatgatg ataattgatc gcttagatgg
     2641 agttcgtttg ttgtggtccc tgctgaaaaa tcctcaccca gacgtgaagg ccagcgcagc
     2701 atgggcactc tgtccatgca tcaaaaatgc aaaggatgct ggggaaatgg ttcgttcctt
     2761 tgttggtggt ttggaactta ttgtcaattt actgaaatca gataacaaag aagttctggc
     2821 aagtgtatgt gctgccatta ccaacatagc aaaagatcaa gaaaatttag ctgttatcac
     2881 agatcatgga gttgttcctt tattgtccaa actggcaaat acaaataaca ataaattgag
     2941 acatcatcta gcagaagcta tttcacgttg ctgtatgtgg ggcaggaata gagtggcctt
     3001 cggtgagcac aaagcagtgg ctccactagt gcgttatctg aaatcaaatg acaccaacgt
     3061 gcatcgggcg acagctcagg ccttgtacca actctcagaa gacgccgata actgcatcac
     3121 catgcatgag aatggtgcag taaagcttct actggatatg gttgggtccc ctgaccagga
     3181 tctccaggaa gctgcagctg gttgtatatc caatatccgc aggctggctc ttgctacaga
     3241 gaaggcaaga tacacttgaa atttaaatgg acattacaag ctatcaaatt ctacatgaca
     3301 caggacatgt cactcccatg gccagaaagc ctaaattggg aaacagttgt tagcaaaccc
     3361 tttcaaccat ctaaatgaaa acacacaaat tgaaaatgca cagaatgttt ttcatctgaa
     3421 aattgcatgg agacttttgt ttctatttaa tgttttcgag atatgacatg tgataagatg
     3481 gaaagccaat aaacctgtga taagtttcta agaatatgag aatatacgta tatgatgtat
     3541 ttttagttca gtgatgcttt tgtatttgtg gcgattttaa taaaaaggat atggccttcc
     3601 caa
//
