LOCUS       NM_023036               2292 bp    mRNA    linear   PRI 09-OCT-2024
DEFINITION  Homo sapiens dynein axonemal intermediate chain 2 (DNAI2),
            transcript variant 1, mRNA.
ACCESSION   NM_023036
VERSION     NM_023036.6
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 2292)
  AUTHORS   Olcese,C., Patel,M.P., Shoemark,A., Kiviluoto,S., Legendre,M.,
            Williams,H.J., Vaughan,C.K., Hayward,J., Goldenberg,A., Emes,R.D.,
            Munye,M.M., Dyer,L., Cahill,T., Bevillard,J., Gehrig,C.,
            Guipponi,M., Chantot,S., Duquesnoy,P., Thomas,L., Jeanson,L.,
            Copin,B., Tamalet,A., Thauvin-Robinet,C., Papon,J.F., Garin,A.,
            Pin,I., Vera,G., Aurora,P., Fassad,M.R., Jenkins,L., Boustred,C.,
            Cullup,T., Dixon,M., Onoufriadis,A., Bush,A., Chung,E.M.,
            Antonarakis,S.E., Loebinger,M.R., Wilson,R., Armengot,M.,
            Escudier,E., Hogg,C., Amselem,S., Sun,Z., Bartoloni,L., Blouin,J.L.
            and Mitchison,H.M.
  CONSRTM   UK10K Rare Group
  TITLE     X-linked primary ciliary dyskinesia due to mutations in the
            cytoplasmic axonemal dynein assembly factor PIH1D3
  JOURNAL   Nat Commun 8, 14279 (2017)
   PUBMED   28176794
  REMARK    Publication Status: Online-Only
REFERENCE   2  (bases 1 to 2292)
  AUTHORS   Diggle,C.P., Moore,D.J., Mali,G., zur Lage,P., Ait-Lounis,A.,
            Schmidts,M., Shoemark,A., Garcia Munoz,A., Halachev,M.R.,
            Gautier,P., Yeyati,P.L., Bonthron,D.T., Carr,I.M., Hayward,B.,
            Markham,A.F., Hope,J.E., von Kriegsheim,A., Mitchison,H.M.,
            Jackson,I.J., Durand,B., Reith,W., Sheridan,E., Jarman,A.P. and
            Mill,P.
  TITLE     HEATR2 plays a conserved role in assembly of the ciliary motile
            apparatus
  JOURNAL   PLoS Genet 10 (9), e1004577 (2014)
   PUBMED   25232951
  REMARK    Publication Status: Online-Only
REFERENCE   3  (bases 1 to 2292)
  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
REFERENCE   4  (bases 1 to 2292)
  AUTHORS   Knowles,M.R., Leigh,M.W., Ostrowski,L.E., Huang,L., Carson,J.L.,
            Hazucha,M.J., Yin,W., Berg,J.S., Davis,S.D., Dell,S.D.,
            Ferkol,T.W., Rosenfeld,M., Sagel,S.D., Milla,C.E., Olivier,K.N.,
            Turner,E.H., Lewis,A.P., Bamshad,M.J., Nickerson,D.A., Shendure,J.
            and Zariwala,M.A.
  CONSRTM   Genetic Disorders of Mucociliary Clearance Consortium
  TITLE     Exome sequencing identifies mutations in CCDC114 as a cause of
            primary ciliary dyskinesia
  JOURNAL   Am J Hum Genet 92 (1), 99-106 (2013)
   PUBMED   23261302
REFERENCE   5  (bases 1 to 2292)
  AUTHORS   Hom,E.F., Witman,G.B., Harris,E.H., Dutcher,S.K., Kamiya,R.,
            Mitchell,D.R., Pazour,G.J., Porter,M.E., Sale,W.S., Wirschell,M.,
            Yagi,T. and King,S.M.
  TITLE     A unified taxonomy for ciliary dyneins
  JOURNAL   Cytoskeleton (Hoboken) 68 (10), 555-565 (2011)
   PUBMED   21953912
REFERENCE   6  (bases 1 to 2292)
  AUTHORS   Luciano,M., Hansell,N.K., Lahti,J., Davies,G., Medland,S.E.,
            Raikkonen,K., Tenesa,A., Widen,E., McGhee,K.A., Palotie,A.,
            Liewald,D., Porteous,D.J., Starr,J.M., Montgomery,G.W.,
            Martin,N.G., Eriksson,J.G., Wright,M.J. and Deary,I.J.
  TITLE     Whole genome association scan for genetic polymorphisms influencing
            information processing speed
  JOURNAL   Biol Psychol 86 (3), 193-202 (2011)
   PUBMED   21130836
REFERENCE   7  (bases 1 to 2292)
  AUTHORS   Loges,N.T., Olbrich,H., Fenske,L., Mussaffi,H., Horvath,J.,
            Fliegauf,M., Kuhl,H., Baktai,G., Peterffy,E., Chodhari,R.,
            Chung,E.M., Rutman,A., O'Callaghan,C., Blau,H., Tiszlavicz,L.,
            Voelkel,K., Witt,M., Zietkiewicz,E., Neesen,J., Reinhardt,R.,
            Mitchison,H.M. and Omran,H.
  TITLE     DNAI2 mutations cause primary ciliary dyskinesia with defects in
            the outer dynein arm
  JOURNAL   Am J Hum Genet 83 (5), 547-558 (2008)
   PUBMED   18950741
  REMARK    GeneRIF: DNAI2 mutations cause primary ciliary dyskinesia with
            defects in the outer dynein arm.
REFERENCE   8  (bases 1 to 2292)
  AUTHORS   Pennarun,G., Chapelin,C., Escudier,E., Bridoux,A.M., Dastot,F.,
            Cacheux,V., Goossens,M., Amselem,S. and Duriez,B.
  TITLE     The human dynein intermediate chain 2 gene (DNAI2): cloning,
            mapping, expression pattern, and evaluation as a candidate for
            primary ciliary dyskinesia
  JOURNAL   Hum Genet 107 (6), 642-649 (2000)
   PUBMED   11153919
REFERENCE   9  (bases 1 to 2292)
  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 AC103809.2, BC039582.1,
            BI464166.1 and AF250288.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_023036.5.
            
            Summary: The protein encoded by this gene belongs to the dynein
            intermediate chain family, and is part of the dynein complex of
            respiratory cilia and sperm flagella. Mutations in this gene are
            associated with primary ciliary dyskinesia type 9. Alternatively
            spliced transcript variants encoding different isoforms have been
            noted for this gene. [provided by RefSeq, Mar 2010].
            
            Transcript Variant: This variant (1) encodes isoform 1.
            
            ##Evidence-Data-START##
            Transcript exon combination :: SRR1660807.99787.1, AF250288.1
                                           [ECO:0000332]
            RNAseq introns              :: single sample supports all introns
                                           SAMEA1968968, SAMEA2144333
                                           [ECO:0000348]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000311014.11/ ENSP00000308312.6
            NMD candidate          :: translation inferred from conservation
            RefSeq Select criteria :: based on conservation, expression
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-13                AC103809.2         96124-96136         c
            14-51               BC039582.1         1-38
            52-129              BI464166.1         25-102
            130-1794            AF250288.1         74-1738
            1795-1795           AC103809.2         58190-58190         c
            1796-2292           BC039582.1         1734-2230
FEATURES             Location/Qualifiers
     source          1..2292
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="17"
                     /map="17q25.1"
     gene            1..2292
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /note="dynein axonemal intermediate chain 2"
                     /db_xref="GeneID:64446"
                     /db_xref="HGNC:HGNC:18744"
                     /db_xref="MIM:605483"
     exon            1..112
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            113..306
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     CDS             124..1941
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /note="isoform 1 is encoded by transcript variant 1;
                     dynein, axonemal, intermediate polypeptide 2"
                     /codon_start=1
                     /product="dynein axonemal intermediate chain 2 isoform 1"
                     /protein_id="NP_075462.3"
                     /db_xref="CCDS:CCDS11697.1"
                     /db_xref="GeneID:64446"
                     /db_xref="HGNC:HGNC:18744"
                     /db_xref="MIM:605483"
                     /translation="MEIVYVYVKKRSEFGKQCNFSDRQAELNIDIMPNPELAEQFVER
                     NPVDTGIQCSISMSEHEANSERFEMETRGVNHVEGGWPKDVNPLELEQTIRFRKKVEK
                     DENYVNAIMQLGSIMEHCIKQNNAIDIYEEYFNDEEAMEVMEEDPSAKTINVFRDPQE
                     IKRAATHLSWHPDGNRKLAVAYSCLDFQRAPVGMSSDSYIWDLENPNKPELALKPSSP
                     LVTLEFNPKDSHVLLGGCYNGQIACWDTRKGSLVAELSTIESSHRDPVYGTIWLQSKT
                     GTECFSASTDGQVMWWDIRKMSEPTEVVILDITKKEQLENALGAISLEFESTLPTKFM
                     VGTEQGIVISCNRKAKTSAEKIVCTFPGHHGPIYALQRNPFYPKNFLTVGDWTARIWS
                     EDSRESSIMWTKYHMAYLTDAAWSPVRPTVFFTTRMDGTLDIWDFMFEQCDPTLSLKV
                     CDEALFCLRVQDNGCLIACGSQLGTTTLLEVSPGLSTLQRNEKNVASSMFERETRREK
                     ILEARHREMRLKEKGKAEGRDEEQTDEELAVDLEALVSKAEEEFFDIIFAELKKKEAD
                     AIKLTPVPQQPSPEEDQVVEEGEEAAGEEGDEEVEEDLA"
     exon            307..468
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            469..590
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            591..733
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            734..847
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            848..987
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            988..1110
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1111..1334
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1335..1470
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1471..1617
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1618..1845
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1846..1996
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     exon            1997..2292
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /inference="alignment:Splign:2.1.0"
     regulatory      2269..2274
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /note="hexamer: ATTAAA"
     polyA_site      2292
                     /gene="DNAI2"
                     /gene_synonym="CILD9; DIC2; oda6"
                     /note="major polyA site"
ORIGIN      
        1 aggccggggt tgccaagcaa ccggtaaacg ccgccgtttg aggagcaccg gagccgcgac
       61 cgtggattga acgcttcccc agagacccag aagcagaagg agcggaccca ggcagccggc
      121 accatggaga ttgtgtacgt gtacgtcaag aagcgcagcg agttcgggaa gcagtgcaat
      181 ttctcggacc gccaggccga gctgaacatc gacatcatgc ccaaccctga gctggccgag
      241 cagttcgtgg agcggaaccc agtggacacg ggcatccagt gctcgatcag catgtcggaa
      301 cacgaggcca actcagagcg gtttgagatg gagacccggg gagttaacca tgtcgagggg
      361 ggctggccca aggacgtgaa ccccctggag ctggagcaga ccatccgttt ccggaagaaa
      421 gtggagaaag atgagaacta cgttaacgcc atcatgcagc tcggctctat catggagcac
      481 tgcatcaagc agaacaatgc cattgacatc tatgaagagt atttcaatga cgaggaggcc
      541 atggaagtga tggaggagga cccttcagct aaaaccatca atgtgttcag ggacccccag
      601 gaaatcaaga gggctgccac acacctctcc tggcaccccg atggcaacag gaagttggca
      661 gtggcatact cctgcttgga ttttcagcgg gcacctgtgg gcatgagcag cgattcatac
      721 atctgggacc tggaaaaccc caacaagcct gaacttgctc tgaagccatc gtctccactc
      781 gtgacgttgg agttcaaccc caaagattcc cacgtactcc tgggtggctg ctacaatgga
      841 cagatagcct gctgggacac ccgaaagggc agcctggtgg cggagctatc caccattgag
      901 tccagccacc gagaccctgt gtatggcacc atctggctgc agtcgaagac gggcaccgag
      961 tgcttctcag cttccacgga tgggcaggtc atgtggtggg acatccgaaa gatgagcgag
     1021 cccactgaag ttgtgatctt ggacatcacc aagaaggaac agttggaaaa tgccttgggg
     1081 gccatctccc tggagttcga atctactttg cccaccaagt tcatggtggg gaccgagcag
     1141 ggcatcgtca tctcctgcaa ccgcaaggcc aagacgtcag ctgaaaagat tgtgtgcacc
     1201 ttcccgggcc atcatggccc catctacgcc ctccagagaa accccttcta cccgaagaac
     1261 ttcctgacgg ttggcgactg gacagcccgc atttggtctg aagacagccg ggaatcgtcc
     1321 atcatgtgga ccaagtacca catggcttac ctcactgatg ctgcctggag ccccgtgagg
     1381 ccgaccgttt tctttaccac caggatggac ggaaccctgg atatctggga cttcatgttc
     1441 gagcagtgcg atcccaccct cagcttgaag gtgtgtgacg aggccctctt ctgcctccgg
     1501 gtgcaggaca atgggtgtct catcgcctgc ggctcccagc tggggacaac caccctgctg
     1561 gaggtctcgc ctgggctctc taccctccag aggaatgaga agaacgtagc ctcttccatg
     1621 tttgagcgtg agacccggcg agagaagatc ctggaggcca ggcaccggga gatgcggctg
     1681 aaggagaagg gtaaggcgga gggcagggat gaggagcaga ccgatgagga gctggccgta
     1741 gacctggagg cgctggtcag caaggccgag gaggagttct tcgacatcat cttcgcagag
     1801 ctgaagaaga aggaggcaga cgccataaag ctgacgccag tgcctcagca accaagtcca
     1861 gaagaagacc aggtggtgga ggagggagag gaagcagcgg gggaagaagg ggatgaagaa
     1921 gtggaagaag acttagccta gaagtcagcc ttcgactgcg gcgctatccc tgtgtgcctt
     1981 cctttcccac ctcttgaccc tcaaccagac ttgcatggcc atggcagggc ctcgggaaga
     2041 ccttcaggag tggggaaggg tttctcctcc atgatcgacc ctcctcgtcc acctacaaat
     2101 caggaacaga aagtctgtcc actttgaaaa tacctttcca ggcagctccc tgaccatttg
     2161 gacacattgc cacgacagga gcctccaagt atgtgggagg ggacgggcgg gacgagcttg
     2221 gctgttctgc tgcacctgaa tgctttctgt tatcctaatt cttgtaaaat taaatgaatc
     2281 gtaacaatgc ca
//
