LOCUS       NM_052844               1823 bp    mRNA    linear   PRI 22-SEP-2024
DEFINITION  Homo sapiens dynein 2 intermediate chain 2 (DYNC2I2), mRNA.
ACCESSION   NM_052844
VERSION     NM_052844.4
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 1823)
  AUTHORS   Huttlin,E.L., Bruckner,R.J., Navarrete-Perea,J., Cannon,J.R.,
            Baltier,K., Gebreab,F., Gygi,M.P., Thornock,A., Zarraga,G., Tam,S.,
            Szpyt,J., Gassaway,B.M., Panov,A., Parzen,H., Fu,S., Golbazi,A.,
            Maenpaa,E., Stricker,K., Guha Thakurta,S., Zhang,T., Rad,R.,
            Pan,J., Nusinow,D.P., Paulo,J.A., Schweppe,D.K., Vaites,L.P.,
            Harper,J.W. and Gygi,S.P.
  TITLE     Dual proteome-scale networks reveal cell-specific remodeling of the
            human interactome
  JOURNAL   Cell 184 (11), 3022-3040 (2021)
   PUBMED   33961781
REFERENCE   2  (bases 1 to 1823)
  AUTHORS   Solaguren-Beascoa,M., Bujakowska,K.M., Mejecase,C., Emmenegger,L.,
            Orhan,E., Neuille,M., Mohand-Said,S., Condroyer,C., Lancelot,M.E.,
            Michiels,C., Demontant,V., Antonio,A., Letexier,M., Saraiva,J.P.,
            Lonjou,C., Carpentier,W., Leveillard,T., Pierce,E.A., Dollfus,H.,
            Sahel,J.A., Bhattacharya,S.S., Audo,I. and Zeitz,C.
  TITLE     WDR34, a candidate gene for non-syndromic rod-cone dystrophy
  JOURNAL   Clin Genet 99 (2), 298-302 (2021)
   PUBMED   33124039
  REMARK    GeneRIF: WDR34, a candidate gene for non-syndromic rod-cone
            dystrophy.
REFERENCE   3  (bases 1 to 1823)
  AUTHORS   Yin,H., Peng,R., Chen,Z., Wang,H., Zhang,T. and Zheng,Y.
  TITLE     WDR34 mutation from anencephaly patients impaired both SHH and PCP
            signaling pathways
  JOURNAL   J Hum Genet 65 (11), 985-993 (2020)
   PUBMED   32576942
  REMARK    GeneRIF: WDR34 mutation from anencephaly patients impaired both SHH
            and PCP signaling pathways.
REFERENCE   4  (bases 1 to 1823)
  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   5  (bases 1 to 1823)
  AUTHORS   Toropova,K., Zalyte,R., Mukhopadhyay,A.G., Mladenov,M., Carter,A.P.
            and Roberts,A.J.
  TITLE     Structure of the dynein-2 complex and its assembly with
            intraflagellar transport trains
  JOURNAL   Nat Struct Mol Biol 26 (9), 823-829 (2019)
   PUBMED   31451806
REFERENCE   6  (bases 1 to 1823)
  AUTHORS   Wade,T.D., Gordon,S., Medland,S., Bulik,C.M., Heath,A.C.,
            Montgomery,G.W. and Martin,N.G.
  TITLE     Genetic variants associated with disordered eating
  JOURNAL   Int J Eat Disord 46 (6), 594-608 (2013)
   PUBMED   23568457
REFERENCE   7  (bases 1 to 1823)
  AUTHORS   Cheng,C.Y., Schache,M., Ikram,M.K., Young,T.L., Guggenheim,J.A.,
            Vitart,V., MacGregor,S., Verhoeven,V.J., Barathi,V.A., Liao,J.,
            Hysi,P.G., Bailey-Wilson,J.E., St Pourcain,B., Kemp,J.P.,
            McMahon,G., Timpson,N.J., Evans,D.M., Montgomery,G.W., Mishra,A.,
            Wang,Y.X., Wang,J.J., Rochtchina,E., Polasek,O., Wright,A.F.,
            Amin,N., van Leeuwen,E.M., Wilson,J.F., Pennell,C.E., van
            Duijn,C.M., de Jong,P.T., Vingerling,J.R., Zhou,X., Chen,P., Li,R.,
            Tay,W.T., Zheng,Y., Chew,M., Burdon,K.P., Craig,J.E., Iyengar,S.K.,
            Igo,R.P. Jr., Lass,J.H. Jr., Chew,E.Y., Haller,T., Mihailov,E.,
            Metspalu,A., Wedenoja,J., Simpson,C.L., Wojciechowski,R., Hohn,R.,
            Mirshahi,A., Zeller,T., Pfeiffer,N., Lackner,K.J., Bettecken,T.,
            Meitinger,T., Oexle,K., Pirastu,M., Portas,L., Nag,A.,
            Williams,K.M., Yonova-Doing,E., Klein,R., Klein,B.E.,
            Hosseini,S.M., Paterson,A.D., Makela,K.M., Lehtimaki,T.,
            Kahonen,M., Raitakari,O., Yoshimura,N., Matsuda,F., Chen,L.J.,
            Pang,C.P., Yip,S.P., Yap,M.K., Meguro,A., Mizuki,N., Inoko,H.,
            Foster,P.J., Zhao,J.H., Vithana,E., Tai,E.S., Fan,Q., Xu,L.,
            Campbell,H., Fleck,B., Rudan,I., Aung,T., Hofman,A.,
            Uitterlinden,A.G., Bencic,G., Khor,C.C., Forward,H., Parssinen,O.,
            Mitchell,P., Rivadeneira,F., Hewitt,A.W., Williams,C., Oostra,B.A.,
            Teo,Y.Y., Hammond,C.J., Stambolian,D., Mackey,D.A., Klaver,C.C.,
            Wong,T.Y., Saw,S.M. and Baird,P.N.
  CONSRTM   Consortium for Refractive Error and Myopia; Fuchs' Genetics
            Multi-Center Study Group; Wellcome Trust Case Control Consortium 2;
            Diabetes Control and Complications Trial/Epidemiology of Diabetes
            Interventions, and Complications Research Group
  TITLE     Nine loci for ocular axial length identified through genome-wide
            association studies, including shared loci with refractive error
  JOURNAL   Am J Hum Genet 93 (2), 264-277 (2013)
   PUBMED   24144296
REFERENCE   8  (bases 1 to 1823)
  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   9  (bases 1 to 1823)
  AUTHORS   Gao,D., Wang,R., Li,B., Yang,Y., Zhai,Z. and Chen,D.Y.
  TITLE     WDR34 is a novel TAK1-associated suppressor of the
            IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway
  JOURNAL   Cell Mol Life Sci 66 (15), 2573-2584 (2009)
   PUBMED   19521662
  REMARK    GeneRIF: Results suggest that WDR34 is a TAK1-associated inhibitor
            of the IL-1R/TLR3/TLR4-induced NF-kappaB activation pathway.
REFERENCE   10 (bases 1 to 1823)
  AUTHORS   Humphray,S.J., Oliver,K., Hunt,A.R., Plumb,R.W., Loveland,J.E.,
            Howe,K.L., Andrews,T.D., Searle,S., Hunt,S.E., Scott,C.E.,
            Jones,M.C., Ainscough,R., Almeida,J.P., Ambrose,K.D., Ashwell,R.I.,
            Babbage,A.K., Babbage,S., Bagguley,C.L., Bailey,J., Banerjee,R.,
            Barker,D.J., Barlow,K.F., Bates,K., Beasley,H., Beasley,O.,
            Bird,C.P., Bray-Allen,S., Brown,A.J., Brown,J.Y., Burford,D.,
            Burrill,W., Burton,J., Carder,C., Carter,N.P., Chapman,J.C.,
            Chen,Y., Clarke,G., Clark,S.Y., Clee,C.M., Clegg,S., Collier,R.E.,
            Corby,N., Crosier,M., Cummings,A.T., Davies,J., Dhami,P., Dunn,M.,
            Dutta,I., Dyer,L.W., Earthrowl,M.E., Faulkner,L., Fleming,C.J.,
            Frankish,A., Frankland,J.A., French,L., Fricker,D.G., Garner,P.,
            Garnett,J., Ghori,J., Gilbert,J.G., Glison,C., Grafham,D.V.,
            Gribble,S., Griffiths,C., Griffiths-Jones,S., Grocock,R., Guy,J.,
            Hall,R.E., Hammond,S., Harley,J.L., Harrison,E.S., Hart,E.A.,
            Heath,P.D., Henderson,C.D., Hopkins,B.L., Howard,P.J., Howden,P.J.,
            Huckle,E., Johnson,C., Johnson,D., Joy,A.A., Kay,M., Keenan,S.,
            Kershaw,J.K., Kimberley,A.M., King,A., Knights,A., Laird,G.K.,
            Langford,C., Lawlor,S., Leongamornlert,D.A., Leversha,M., Lloyd,C.,
            Lloyd,D.M., Lovell,J., Martin,S., Mashreghi-Mohammadi,M.,
            Matthews,L., McLaren,S., McLay,K.E., McMurray,A., Milne,S.,
            Nickerson,T., Nisbett,J., Nordsiek,G., Pearce,A.V., Peck,A.I.,
            Porter,K.M., Pandian,R., Pelan,S., Phillimore,B., Povey,S.,
            Ramsey,Y., Rand,V., Scharfe,M., Sehra,H.K., Shownkeen,R.,
            Sims,S.K., Skuce,C.D., Smith,M., Steward,C.A., Swarbreck,D.,
            Sycamore,N., Tester,J., Thorpe,A., Tracey,A., Tromans,A.,
            Thomas,D.W., Wall,M., Wallis,J.M., West,A.P., Whitehead,S.L.,
            Willey,D.L., Williams,S.A., Wilming,L., Wray,P.W., Young,L.,
            Ashurst,J.L., Coulson,A., Blocker,H., Durbin,R., Sulston,J.E.,
            Hubbard,T., Jackson,M.J., Bentley,D.R., Beck,S., Rogers,J. and
            Dunham,I.
  TITLE     DNA sequence and analysis of human chromosome 9
  JOURNAL   Nature 429 (6990), 369-374 (2004)
   PUBMED   15164053
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AL356481.16.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Aug 21, 2020 this sequence version replaced NM_052844.3.
            
            Summary: This gene encodes a member of the WD repeat protein
            family. WD repeats are minimally conserved regions of approximately
            40 amino acids typically bracketed by gly-his and trp-asp (GH-WD),
            which may facilitate formation of heterotrimeric or multiprotein
            complexes. Members of this family are involved in a variety of
            cellular processes, including cell cycle progression, signal
            transduction, apoptosis, and gene regulation. Defects in this gene
            are a cause of short-rib thoracic dysplasia 11 with or without
            polydactyly. [provided by RefSeq, Mar 2014].
            
            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 :: BC011874.2, SRR14038197.1721294.1
                                           [ECO:0000332]
            RNAseq introns              :: mixed sample support SAMEA1965299,
                                           SAMEA1966682 [ECO:0006172]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000372715.7/ ENSP00000361800.2
            RefSeq Select criteria :: based on manual assertion, conservation,
                                      expression, longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: complete on the 3' end.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-307               AL356481.16        137177-137483       c
            308-556             AL356481.16        121327-121575       c
            557-666             AL356481.16        117554-117663       c
            667-824             AL356481.16        116917-117074       c
            825-934             AL356481.16        116294-116403       c
            935-1102            AL356481.16        115728-115895       c
            1103-1335           AL356481.16        115325-115557       c
            1336-1493           AL356481.16        114862-115019       c
            1494-1823           AL356481.16        114289-114618       c
FEATURES             Location/Qualifiers
     source          1..1823
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="9"
                     /map="9q34.11"
     gene            1..1823
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /note="dynein 2 intermediate chain 2"
                     /db_xref="GeneID:89891"
                     /db_xref="HGNC:HGNC:28296"
                     /db_xref="MIM:613363"
     exon            1..307
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     CDS             122..1732
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /note="WD repeat-containing protein 34; WD repeat domain
                     34"
                     /codon_start=1
                     /product="cytoplasmic dynein 2 intermediate chain 2"
                     /protein_id="NP_443076.2"
                     /db_xref="CCDS:CCDS6906.2"
                     /db_xref="GeneID:89891"
                     /db_xref="HGNC:HGNC:28296"
                     /db_xref="MIM:613363"
                     /translation="MATRAQPGPLSQAGSAGVAALATVGVASGPGPGRPGPLQDETLG
                     VASVPSQWRAVQGIRWETKSCQTASIATASASAQARNHVDAQVQTEAPVPVSVQPPSQ
                     YDIPRLAAFLRRVEAMVIRELNKNWQSHAFDGFEVNWTEQQQMVSCLYTLGYPPAQAQ
                     GLHVTSISWNSTGSVVACAYGRLDHGDWSTLKSFVCAWNLDRRDLRPQQPSAVVEVPS
                     AVLCLAFHPTQPSHVAGGLYSGEVLVWDLSRLEDPLLWRTGLTDDTHTDPVSQVVWLP
                     EPGHSHRFQVLSVATDGKVLLWQGIGVGQLQLTEGFALVMQQLPRSTKLKKHPRGETE
                     VGATAVAFSSFDPRLFILGTEGGFPLKCSLAAGEAALTRMPSSVPLRAPAQFTFSPHG
                     GPIYSVSCSPFHRNLFLSAGTDGHVHLYSMLQAPPLTSLQLSLKYLFAVRWSPVRPLV
                     FAAASGKGDVQLFDLQKSSQKPTVLIKQTQDESPVYCLEFNSQQTQLLAAGDAQGTVK
                     VWQLSTEFTEQGPREAEDLDCLAAEVAA"
     exon            308..556
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            557..666
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            667..824
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            825..934
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            935..1102
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            1103..1335
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            1336..1493
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     exon            1494..1823
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1800..1805
                     /regulatory_class="polyA_signal_sequence"
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /note="hexamer: AAGAAA"
     polyA_site      1823
                     /gene="DYNC2I2"
                     /gene_synonym="bA216B9.3; CFAP133; DIC5; FAP133; SRTD11;
                     WDR34"
                     /note="major polyA site"
ORIGIN      
        1 ggcgctgcga ccaattcaaa catggcgccg tcagcctcac attccccgtt ttccgctcat
       61 ggcggcgtag gggcggaggt cgcgcctgag tgcgtccgca cgagagggcg gaaccgtctc
      121 catggcaacc cgcgcgcagc cggggccact cagccaggcg ggaagcgctg gtgttgcggc
      181 gctggcgaca gtcggggttg cgagcggccc ggggccgggg cggccagggc cgctgcagga
      241 cgagaccctg ggtgtggcgt ccgtgccctc gcagtggagg gccgtccagg gcatccgctg
      301 ggagacgaaa agttgccaga cggccagcat tgccactgcc agtgcatccg cccaggccag
      361 gaatcatgtg gacgcccagg tgcagacgga ggcccccgtg cctgtcagcg tgcagccccc
      421 gtcccagtat gacataccca ggctcgcagc ctttcttcgg agagtggagg ccatggtcat
      481 ccgagagctg aacaagaatt ggcagagcca cgcgtttgat ggcttcgagg tgaactggac
      541 cgagcagcag cagatggtgt cttgtctgta taccctgggc tacccgccag cccaagcgca
      601 gggtctgcat gtgaccagca tctcctggaa ctccactggc tctgtggtgg cctgtgccta
      661 cggccggctg gaccatgggg actggagcac gcttaagtcc ttcgtgtgtg cctggaacct
      721 ggaccggcga gacctgcgtc cccagcagcc gtcggccgtg gtggaggtcc ccagcgctgt
      781 cctgtgtctg gccttccacc ccacgcagcc ctcccacgtc gcaggagggc tgtacagtgg
      841 tgaggtgttg gtgtgggacc tgagccgtct tgaggacccg ctgctgtggc gcacaggcct
      901 gacggatgac acccacacag accctgtgtc ccaggtggtg tggctgcccg agcctgggca
      961 cagccaccgc ttccaggtgc tgagtgtggc caccgacggg aaggtgctac tctggcaggg
     1021 catcggggta ggccagctgc agctcacaga gggcttcgcc ctggtcatgc agcagctgcc
     1081 acggagcacc aagctcaaga agcatccccg cggggagacc gaggtgggcg ccacggcagt
     1141 ggccttctcc agctttgacc ctaggctgtt cattctgggc acggaaggcg gcttcccgct
     1201 caagtgttcc ctggcagctg gagaggcagc cctcacgcgg atgcccagct ccgtgcccct
     1261 gcgggcccca gcacagttta ccttctcccc ccacggcggt cccatctact ctgtgagctg
     1321 ttcccccttc cacaggaatc tcttcctgag cgctgggact gacgggcatg tccacctgta
     1381 ctccatgctg caggcccctc ccttgacttc gctgcagctc tccctcaagt atctgtttgc
     1441 tgtgcgctgg tccccagtgc ggcccttggt ttttgcagct gcctctggga aaggtgacgt
     1501 gcagctgttt gatctccaga aaagctccca gaaacccaca gttttgatca agcaaaccca
     1561 ggatgaaagc cctgtctact gtctggagtt caacagccag cagactcagc tcttggctgc
     1621 gggcgatgcc cagggcacag tgaaggtgtg gcagctgagc acagagttca cggaacaagg
     1681 gccccgggaa gctgaggacc tggactgcct ggcagcagag gtggcggcct gaggggtccc
     1741 gggaggcggg tgcaagcctt cgctgtgccg agccttgtgt ttctgacgca agccaaatga
     1801 agaaaagcaa agctttgggg gaa
//
